MFSD6L

major facilitator superfamily domain containing 6 like

Basic information

Region (hg38): 17:8797110-8799365

Links

ENSG00000185156 ∙ NCBI:162387 ∙ ∙ HGNC:26656 ∙ Uniprot:Q8IWD5 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• cataract (Limited), mode of inheritance: AR

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MFSD6L gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MFSD6L 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					3	3
missense			54	3	4	61
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding					2	2
Total	0	0	54	3	9

Variants in MFSD6L

This is a list of pathogenic ClinVar variants found in the MFSD6L region.

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

Position	Type	Phenotype	Significance	ClinVar
17-8797398-A-C		not specified	Uncertain significance (Nov 30, 2022)
17-8797452-G-C		not specified	Uncertain significance (Oct 25, 2024)
17-8797460-G-A			Benign (Nov 12, 2018)
17-8797463-T-C		not specified	Uncertain significance (Nov 13, 2023)
17-8797479-C-G		not specified	Uncertain significance (Aug 17, 2021)
17-8797500-T-C		not specified	Uncertain significance (Nov 27, 2023)
17-8797535-A-G		not specified	Uncertain significance (Feb 14, 2024)
17-8797571-C-T		not specified	Uncertain significance (Aug 12, 2024)
17-8797573-C-T		not specified	Uncertain significance (Dec 02, 2021)
17-8797581-C-T		not specified	Uncertain significance (Mar 29, 2022)
17-8797586-C-G		not specified	Uncertain significance (Jan 12, 2024)
17-8797616-C-G		not specified	Uncertain significance (Oct 04, 2022)
17-8797619-C-A		not specified	Uncertain significance (Jun 09, 2022)
17-8797664-C-T			Benign (Nov 12, 2018)
17-8797776-A-G		not specified	Uncertain significance (Nov 12, 2021)
17-8797778-T-G		not specified	Uncertain significance (Jan 22, 2024)
17-8797782-A-G		not specified	Uncertain significance (May 14, 2024)
17-8797798-G-A			Benign (Nov 12, 2018)
17-8797800-G-A		not specified	Uncertain significance (Dec 15, 2023)
17-8797804-G-C		not specified	Uncertain significance (Jan 27, 2025)
17-8797829-G-A			Likely benign (Jan 01, 2023)
17-8797872-G-A		not specified	Uncertain significance (Nov 09, 2023)
17-8797886-A-C		not specified	Uncertain significance (Dec 02, 2024)
17-8797969-A-G			Benign (May 04, 2021)
17-8798018-A-T		not specified	Uncertain significance (Jun 12, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MFSD6L	protein_coding	protein_coding	ENST00000329805	1	2232

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.02e-8	0.441	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.217	351	340	1.03	0.0000190	3737
Missense in Polyphen		83	87.14	0.95249		1086
Synonymous	0.472	151	159	0.952	0.00000967	1307
Loss of Function	0.892	14	18.1	0.774	0.00000121	162

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.203
• rvis_EVS: 2.65
• rvis_percentile_EVS: 98.83

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.153
• ghis: 0.422

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0697

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mfsd6l

Gene ontology

• Cellular component: integral component of membrane