TESMIN

testis expressed metallothionein like protein

Basic information

Region (hg38): 11:68707439-68751520

Previous symbols: [ "MTL5" ]

Links

ENSG00000132749 ∙ NCBI:9633 ∙ OMIM:604374 ∙ HGNC:7446 ∙ Uniprot:Q9Y4I5 ∙ 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 TESMIN gene.

• Inborn genetic diseases (4 variants)

Variants pathogenicity by type

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

Variants in TESMIN

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

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

Position	Type	Phenotype	Significance	ClinVar
11-68708327-T-A		not specified	Uncertain significance (Jun 11, 2021)
11-68708386-C-A		not specified	Uncertain significance (Sep 15, 2021)
11-68747304-C-G		not specified	Uncertain significance (Sep 16, 2021)
11-68750593-C-A		not specified	Uncertain significance (Oct 26, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TESMIN	protein_coding	protein_coding	ENST00000255087	9	44125

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000223	0.980	125727	0	21	125748	0.0000835

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.16	212	265	0.799	0.0000142	3285
Missense in Polyphen		55	56.713	0.9698		740
Synonymous	0.885	102	114	0.895	0.00000753	958
Loss of Function	2.09	11	21.5	0.512	0.00000100	282

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000303	0.000301
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000908	0.0000879
Middle Eastern	0.0000544	0.0000544
South Asian	0.0000653	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May have a role in spermatogenesis. {ECO:0000305}.

Recessive Scores

• pRec: 0.143

Intolerance Scores

• rvis_EVS: 0.55
• rvis_percentile_EVS: 81.48

Haploinsufficiency Scores

• pHI: 0.0813
• hipred: N
• hipred_score: 0.233
• ghis: 0.377

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Tesmin

Gene ontology

• Biological process: regulation of transcription, DNA-templated;cellular metal ion homeostasis;multicellular organism development;spermatogenesis;response to metal ion;cell differentiation
• Cellular component: nucleus;cytoplasm
• Molecular function: RNA polymerase II regulatory region sequence-specific DNA binding;metal ion binding