Incidental Mutation 'IGL02672:Tmprss3'
ID302972
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmprss3
Ensembl Gene ENSMUSG00000024034
Gene Nametransmembrane protease, serine 3
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.075) question?
Stock #IGL02672
Quality Score
Status
Chromosome17
Chromosomal Location31179272-31198975 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 31191007 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 211 (Y211C)
Ref Sequence ENSEMBL: ENSMUSP00000110196 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024833] [ENSMUST00000114549]
Predicted Effect probably damaging
Transcript: ENSMUST00000024833
AA Change: Y189C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000024833
Gene: ENSMUSG00000024034
AA Change: Y189C

DomainStartEndE-ValueType
transmembrane domain 49 71 N/A INTRINSIC
LDLa 72 109 1.76e-5 SMART
SR 108 205 3.99e-4 SMART
Tryp_SPc 216 443 5.22e-96 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000114549
AA Change: Y211C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000110196
Gene: ENSMUSG00000024034
AA Change: Y211C

DomainStartEndE-ValueType
transmembrane domain 70 92 N/A INTRINSIC
LDLa 94 131 1.76e-5 SMART
SR 130 227 3.99e-4 SMART
Tryp_SPc 238 465 5.22e-96 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the serine protease family. The encoded protein contains a serine protease domain, a transmembrane domain, an LDL receptor-like domain, and a scavenger receptor cysteine-rich domain. Serine proteases are known to be involved in a variety of biological processes, whose malfunction often leads to human diseases and disorders. This gene was identified by its association with both congenital and childhood onset autosomal recessive deafness. This gene is expressed in fetal cochlea and many other tissues, and is thought to be involved in the development and maintenance of the inner ear or the contents of the perilymph and endolymph. This gene was also identified as a tumor-associated gene that is overexpressed in ovarian tumors. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2012]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit early onset deafness and disrupted vestibular function associated with hair cell degeneration. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agrn C T 4: 156,174,561 probably benign Het
Alpi A G 1: 87,101,272 L60P probably damaging Het
Arpc1a A C 5: 145,104,887 I327L probably damaging Het
Col5a1 C T 2: 27,974,715 A737V unknown Het
Dcaf7 T C 11: 106,054,858 probably benign Het
Dnah9 T G 11: 65,927,601 I3304L probably benign Het
Dpp10 T A 1: 123,376,647 H508L probably benign Het
Dync1i1 A G 6: 5,767,034 D86G probably benign Het
Enpp7 T C 11: 118,992,340 probably null Het
Fbxw9 C A 8: 85,066,053 probably null Het
Foxred2 A G 15: 77,945,577 probably null Het
Gas2l2 C T 11: 83,425,131 R254H probably damaging Het
Gatad2b C T 3: 90,341,891 L79F possibly damaging Het
Igf1r A T 7: 68,190,033 D696V probably benign Het
Kcnk5 A G 14: 20,146,512 I96T probably damaging Het
Lrrc8c C T 5: 105,607,358 T333M possibly damaging Het
Mcm10 T C 2: 5,001,281 T417A probably benign Het
Mesp2 T C 7: 79,811,397 S157P probably benign Het
Naca A G 10: 128,040,283 probably benign Het
Olfr1102 A T 2: 87,002,073 M35L probably benign Het
Osgepl1 A G 1: 53,320,111 T260A probably benign Het
Otop1 T C 5: 38,277,826 probably null Het
Pdk1 T C 2: 71,895,752 S335P probably damaging Het
Phkb A G 8: 85,942,358 N338S probably benign Het
Pogz G A 3: 94,856,099 V61I probably benign Het
Ppp4r1 A G 17: 65,840,947 Y928C probably damaging Het
Rab17 T C 1: 90,959,218 E160G probably damaging Het
Rasgrp3 T A 17: 75,496,417 F70Y probably benign Het
Rere T A 4: 150,510,026 N364K unknown Het
Ryr1 A T 7: 29,004,519 probably benign Het
Sae1 A G 7: 16,370,348 V112A probably damaging Het
Serpinb6d C T 13: 33,671,389 H349Y probably benign Het
Slc12a1 T C 2: 125,170,676 V286A probably damaging Het
Smad3 A T 9: 63,667,727 probably null Het
Sox8 T A 17: 25,568,989 D162V probably damaging Het
Sptbn1 A G 11: 30,137,239 F1067L probably damaging Het
Top2b T C 14: 16,409,166 probably benign Het
Tpp1 A T 7: 105,746,961 H510Q probably benign Het
Ugcg T A 4: 59,218,587 probably benign Het
Vmn2r96 T A 17: 18,598,114 I651N probably benign Het
Wdr25 A T 12: 108,898,081 K51* probably null Het
Other mutations in Tmprss3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00159:Tmprss3 APN 17 31195008 missense probably damaging 0.97
IGL01836:Tmprss3 APN 17 31191044 missense probably benign
IGL02525:Tmprss3 APN 17 31194891 splice site probably benign
IGL02900:Tmprss3 APN 17 31184579 missense probably damaging 1.00
R0122:Tmprss3 UTSW 17 31193902 splice site probably benign
R0617:Tmprss3 UTSW 17 31193912 missense probably damaging 1.00
R4001:Tmprss3 UTSW 17 31186559 missense probably damaging 1.00
R5587:Tmprss3 UTSW 17 31193992 missense probably benign 0.00
R6077:Tmprss3 UTSW 17 31189167 missense possibly damaging 0.94
R6271:Tmprss3 UTSW 17 31186562 missense probably damaging 1.00
R6329:Tmprss3 UTSW 17 31183859 nonsense probably null
R6918:Tmprss3 UTSW 17 31188357 missense probably benign 0.19
R8279:Tmprss3 UTSW 17 31197735 missense probably benign 0.20
R8372:Tmprss3 UTSW 17 31184697 missense probably benign 0.00
Posted On2015-04-16