MIPOL1

mirror-image polydactyly 1

Basic information

Region (hg38): 14:37197894-37579125

Links

ENSG00000151338 ∙ NCBI:145282 ∙ OMIM:606850 ∙ HGNC:21460 ∙ Uniprot:Q8TD10 ∙ 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 MIPOL1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MIPOL1 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				2		2
missense			22	1		23
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1		1
non coding				1		1
Total	0	0	22	4	0

Variants in MIPOL1

This is a list of pathogenic ClinVar variants found in the MIPOL1 region.

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

Position	Type	Phenotype	Significance	ClinVar
14-37266941-T-A		not specified	Uncertain significance (Jun 13, 2023)
14-37266944-C-T		not specified	Uncertain significance (Mar 16, 2022)
14-37266965-A-G		not specified	Uncertain significance (Feb 23, 2023)
14-37267010-C-T		not specified	Uncertain significance (Jun 06, 2023)
14-37267120-A-T		not specified	Uncertain significance (Sep 28, 2021)
14-37268659-G-T		not specified	Uncertain significance (Jun 05, 2023)
14-37268682-T-A		not specified	Uncertain significance (May 14, 2024)
14-37268687-A-G		not specified	Uncertain significance (Dec 20, 2021)
14-37268704-C-G		not specified	Uncertain significance (Jun 16, 2024)
14-37268736-G-A		MIPOL1-related disorder	Likely benign (Nov 05, 2021)
14-37268779-A-G		not specified	Likely benign (Oct 26, 2021)
14-37270444-G-A		not specified	Uncertain significance (Feb 05, 2024)
14-37270504-A-G		not specified	Uncertain significance (May 13, 2024)
14-37270509-T-C		MIPOL1-related disorder	Likely benign (Mar 11, 2022)
14-37285444-A-G		not specified	Uncertain significance (Oct 16, 2023)
14-37308080-A-C		not specified	Uncertain significance (Nov 15, 2021)
14-37308353-T-C		not specified	Uncertain significance (Dec 13, 2021)
14-37308383-C-T		not specified	Uncertain significance (Jun 27, 2022)
14-37308408-G-T		not specified	Uncertain significance (Jul 11, 2023)
14-37308500-G-A		not specified	Uncertain significance (Feb 28, 2023)
14-37308515-C-T		not specified	Uncertain significance (Aug 17, 2021)
14-37369547-G-C		not specified	Likely benign (Mar 30, 2024)
14-37369563-A-G		not specified	Uncertain significance (Dec 13, 2022)
14-37369581-T-C		not specified	Uncertain significance (Mar 30, 2024)
14-37369632-T-C		MIPOL1-related disorder	Likely benign (Apr 30, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MIPOL1	protein_coding	protein_coding	ENST00000327441	11	354449

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.08e-11	0.403	125648	2	96	125746	0.000390

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.422	238	220	1.08	0.0000109	2925
Missense in Polyphen		58	68.132	0.85128		958
Synonymous	0.484	69	74.3	0.929	0.00000358	754
Loss of Function	1.16	20	26.4	0.757	0.00000136	336

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000946	0.000937
Ashkenazi Jewish	0.00	0.00
East Asian	0.000278	0.000272
Finnish	0.000139	0.000139
European (Non-Finnish)	0.000439	0.000431
Middle Eastern	0.000278	0.000272
South Asian	0.000631	0.000555
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0916

Intolerance Scores

• loftool: 0.843
• rvis_EVS: -0.71
• rvis_percentile_EVS: 14.5

Haploinsufficiency Scores

• pHI: 0.0525
• hipred: N
• hipred_score: 0.173
• ghis: 0.429

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.274

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mipol1
• Phenotype: nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); vision/eye phenotype

Gene ontology

• Cellular component: nucleus
• Molecular function: protein binding;identical protein binding