CD300LG

CD300 molecule like family member g, the group of V-set domain containing

Basic information

Region (hg38): 17:43847148-43863639

Links

ENSG00000161649 ∙ NCBI:146894 ∙ OMIM:610520 ∙ HGNC:30455 ∙ Uniprot:Q6UXG3 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CD300LG gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CD300LG gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			28	4		32
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	28	4	0

Variants in CD300LG

This is a list of pathogenic ClinVar variants found in the CD300LG region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
17-43848578-C-T		not specified	Uncertain significance (Sep 16, 2021)
17-43848599-G-A		not specified	Uncertain significance (Mar 12, 2024)
17-43848614-T-C		not specified	Uncertain significance (Oct 10, 2023)
17-43848653-C-G		not specified	Uncertain significance (Oct 29, 2021)
17-43848695-T-G		not specified	Uncertain significance (Dec 15, 2022)
17-43848773-G-C		not specified	Uncertain significance (Feb 16, 2023)
17-43848849-G-A		not specified	Uncertain significance (Aug 12, 2021)
17-43848860-G-A		not specified	Uncertain significance (Nov 10, 2022)
17-43852942-C-A		not specified	Uncertain significance (Feb 28, 2024)
17-43852966-G-A		not specified	Uncertain significance (Mar 04, 2024)
17-43852996-C-A		not specified	Uncertain significance (Feb 27, 2023)
17-43853831-C-T		not specified	Likely benign (Aug 16, 2022)
17-43853846-A-C		not specified	Uncertain significance (Nov 06, 2023)
17-43853855-C-T		not specified	Uncertain significance (Mar 01, 2023)
17-43853860-G-T		not specified	Uncertain significance (Jun 10, 2022)
17-43853884-A-G		not specified	Uncertain significance (Feb 13, 2023)
17-43853956-G-T		not specified	Uncertain significance (May 05, 2023)
17-43853959-G-A		not specified	Uncertain significance (Apr 09, 2024)
17-43853974-C-G		not specified	Likely benign (Oct 27, 2022)
17-43853975-C-T		not specified	Uncertain significance (Jun 18, 2021)
17-43853977-A-G		not specified	Uncertain significance (Nov 15, 2021)
17-43854025-A-T		not specified	Uncertain significance (Dec 05, 2022)
17-43855208-G-T		not specified	Uncertain significance (Dec 30, 2023)
17-43855227-G-A		not specified	Uncertain significance (Jun 21, 2023)
17-43855247-G-T		not specified	Uncertain significance (Mar 02, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CD300LG	protein_coding	protein_coding	ENST00000317310	7	16482

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000736	0.929	125726	0	22	125748	0.0000875

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.181	199	192	1.04	0.0000112	2091
Missense in Polyphen		51	43.687	1.1674		521
Synonymous	0.0685	84	84.8	0.991	0.00000532	716
Loss of Function	1.61	7	13.3	0.525	5.67e-7	159

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000455	0.000453
Ashkenazi Jewish	0.00	0.00
East Asian	0.000163	0.000163
Finnish	0.0000930	0.0000924
European (Non-Finnish)	0.0000530	0.0000527
Middle Eastern	0.000163	0.000163
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Receptor which may mediate L-selectin-dependent lymphocyte rollings. Binds SELL in a calcium dependent manner. Binds lymphocyte (By similarity). {ECO:0000250}.
• Pathway: Immune System;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Adaptive Immune System (Consensus)

Intolerance Scores

• loftool: 0.902
• rvis_EVS: -0.29
• rvis_percentile_EVS: 33.34

Haploinsufficiency Scores

• pHI: 0.0600
• hipred: N
• hipred_score: 0.212
• ghis: 0.557

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0406

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Cd300lg
• Phenotype: normal phenotype; hematopoietic system phenotype; skeleton phenotype

Gene ontology

• Biological process: immune system process;regulation of immune response
• Cellular component: plasma membrane;integral component of membrane;basolateral plasma membrane;apical plasma membrane;multivesicular body membrane
• Molecular function: protein binding