MFSD5

major facilitator superfamily domain containing 5, the group of Solute carrier family 61

Basic information

Region (hg38): 12:53251251-53254406

Links

ENSG00000182544 ∙ NCBI:84975 ∙ ∙ HGNC:28156 ∙ Uniprot:Q6N075 ∙ 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 MFSD5 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MFSD5 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			27			27
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	29	0	0

Variants in MFSD5

This is a list of pathogenic ClinVar variants found in the MFSD5 region.

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

Position	Type	Phenotype	Significance	ClinVar
12-53251979-G-A		not specified	Uncertain significance (Aug 02, 2021)
12-53252824-C-T		not specified	Uncertain significance (Sep 26, 2023)
12-53252834-C-T		not specified	Uncertain significance (Jul 21, 2021)
12-53253030-A-C		not specified	Uncertain significance (Jun 30, 2022)
12-53253215-A-G		not specified	Uncertain significance (Apr 15, 2022)
12-53253241-C-T		not specified	Uncertain significance (Nov 07, 2022)
12-53253314-A-G		not specified	Uncertain significance (Jul 12, 2023)
12-53253353-G-C		not specified	Uncertain significance (Jul 25, 2023)
12-53253440-C-T		not specified	Uncertain significance (Apr 04, 2023)
12-53253470-C-T		not specified	Uncertain significance (Oct 05, 2023)
12-53253490-C-G		not specified	Uncertain significance (Sep 12, 2023)
12-53253494-G-A		not specified	Uncertain significance (Jun 28, 2022)
12-53253505-G-A		not specified	Uncertain significance (May 13, 2024)
12-53253518-G-A		not specified	Uncertain significance (Oct 26, 2021)
12-53253524-G-A		not specified	Uncertain significance (Apr 16, 2024)
12-53253553-C-G		not specified	Uncertain significance (Sep 12, 2023)
12-53253556-C-T		not specified	Uncertain significance (Dec 21, 2022)
12-53253577-C-T		not specified	Uncertain significance (Oct 14, 2023)
12-53253578-G-A		not specified	Uncertain significance (Dec 06, 2022)
12-53253627-C-G		not specified	Uncertain significance (Dec 17, 2023)
12-53253661-C-G		not specified	Uncertain significance (Jun 06, 2023)
12-53253667-G-A		not specified	Uncertain significance (Mar 14, 2023)
12-53253733-C-T		not specified	Uncertain significance (Sep 09, 2021)
12-53253799-G-A		not specified	Uncertain significance (Jun 16, 2024)
12-53253837-C-A		not specified	Uncertain significance (Feb 06, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MFSD5	protein_coding	protein_coding	ENST00000534842	2	3155

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00233	0.982	125725	0	23	125748	0.0000915

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.04	260	312	0.834	0.0000176	3534
Missense in Polyphen		56	73.84	0.75839		954
Synonymous	-0.872	141	128	1.10	0.00000667	1257
Loss of Function	2.13	7	16.3	0.431	9.91e-7	167

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000177	0.000177
Ashkenazi Jewish	0.0000992	0.0000992
East Asian	0.000163	0.000163
Finnish	0.00	0.00
European (Non-Finnish)	0.000123	0.000105
Middle Eastern	0.000163	0.000163
South Asian	0.0000653	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Mediates high-affinity intracellular uptake of the rare oligo-element molybdenum. {ECO:0000269|PubMed:21464289}.

Recessive Scores

• pRec: 0.109

Intolerance Scores

• loftool: 0.242
• rvis_EVS: -0.78
• rvis_percentile_EVS: 12.77

Haploinsufficiency Scores

• pHI: 0.202
• hipred: N
• hipred_score: 0.267
• ghis: 0.614

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0923

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mfsd5

Gene ontology

• Biological process: molybdate ion transport
• Cellular component: plasma membrane;membrane;integral component of membrane
• Molecular function: protein binding;molybdate ion transmembrane transporter activity