Incidental Mutation 'IGL02672:Tmprss3'
ID 302972
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmprss3
Ensembl Gene ENSMUSG00000024034
Gene Name transmembrane protease, serine 3
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.054) question?
Stock # IGL02672
Quality Score
Status
Chromosome 17
Chromosomal Location 31398239-31417951 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 31409981 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q8K1T0
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: 156,259,018 (GRCm39) probably benign Het
Alpi A G 1: 87,028,994 (GRCm39) L60P probably damaging Het
Arpc1a A C 5: 145,041,697 (GRCm39) I327L probably damaging Het
Col5a1 C T 2: 27,864,727 (GRCm39) A737V unknown Het
Dcaf7 T C 11: 105,945,684 (GRCm39) probably benign Het
Dnah9 T G 11: 65,818,427 (GRCm39) I3304L probably benign Het
Dpp10 T A 1: 123,304,376 (GRCm39) H508L probably benign Het
Dync1i1 A G 6: 5,767,034 (GRCm39) D86G probably benign Het
Enpp7 T C 11: 118,883,166 (GRCm39) probably null Het
Fbxw9 C A 8: 85,792,682 (GRCm39) probably null Het
Foxred2 A G 15: 77,829,777 (GRCm39) probably null Het
Gas2l2 C T 11: 83,315,957 (GRCm39) R254H probably damaging Het
Gatad2b C T 3: 90,249,198 (GRCm39) L79F possibly damaging Het
Igf1r A T 7: 67,839,781 (GRCm39) D696V probably benign Het
Kcnk5 A G 14: 20,196,580 (GRCm39) I96T probably damaging Het
Lrrc8c C T 5: 105,755,224 (GRCm39) T333M possibly damaging Het
Mcm10 T C 2: 5,006,092 (GRCm39) T417A probably benign Het
Mesp2 T C 7: 79,461,145 (GRCm39) S157P probably benign Het
Naca A G 10: 127,876,152 (GRCm39) probably benign Het
Or5t17 A T 2: 86,832,417 (GRCm39) M35L probably benign Het
Osgepl1 A G 1: 53,359,270 (GRCm39) T260A probably benign Het
Otop1 T C 5: 38,435,170 (GRCm39) probably null Het
Pdk1 T C 2: 71,726,096 (GRCm39) S335P probably damaging Het
Phkb A G 8: 86,668,987 (GRCm39) N338S probably benign Het
Pogz G A 3: 94,763,410 (GRCm39) V61I probably benign Het
Ppp4r1 A G 17: 66,147,942 (GRCm39) Y928C probably damaging Het
Rab17 T C 1: 90,886,940 (GRCm39) E160G probably damaging Het
Rasgrp3 T A 17: 75,803,412 (GRCm39) F70Y probably benign Het
Rere T A 4: 150,594,483 (GRCm39) N364K unknown Het
Ryr1 A T 7: 28,703,944 (GRCm39) probably benign Het
Sae1 A G 7: 16,104,273 (GRCm39) V112A probably damaging Het
Serpinb6d C T 13: 33,855,372 (GRCm39) H349Y probably benign Het
Slc12a1 T C 2: 125,012,596 (GRCm39) V286A probably damaging Het
Smad3 A T 9: 63,575,009 (GRCm39) probably null Het
Sox8 T A 17: 25,787,963 (GRCm39) D162V probably damaging Het
Sptbn1 A G 11: 30,087,239 (GRCm39) F1067L probably damaging Het
Top2b T C 14: 16,409,166 (GRCm38) probably benign Het
Tpp1 A T 7: 105,396,168 (GRCm39) H510Q probably benign Het
Ugcg T A 4: 59,218,587 (GRCm39) probably benign Het
Vmn2r96 T A 17: 18,818,376 (GRCm39) I651N probably benign Het
Wdr25 A T 12: 108,864,007 (GRCm39) K51* probably null Het
Other mutations in Tmprss3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00159:Tmprss3 APN 17 31,413,982 (GRCm39) missense probably damaging 0.97
IGL01836:Tmprss3 APN 17 31,410,018 (GRCm39) missense probably benign
IGL02525:Tmprss3 APN 17 31,413,865 (GRCm39) splice site probably benign
IGL02900:Tmprss3 APN 17 31,403,553 (GRCm39) missense probably damaging 1.00
R0122:Tmprss3 UTSW 17 31,412,876 (GRCm39) splice site probably benign
R0617:Tmprss3 UTSW 17 31,412,886 (GRCm39) missense probably damaging 1.00
R4001:Tmprss3 UTSW 17 31,405,533 (GRCm39) missense probably damaging 1.00
R5587:Tmprss3 UTSW 17 31,412,966 (GRCm39) missense probably benign 0.00
R6077:Tmprss3 UTSW 17 31,408,141 (GRCm39) missense possibly damaging 0.94
R6271:Tmprss3 UTSW 17 31,405,536 (GRCm39) missense probably damaging 1.00
R6329:Tmprss3 UTSW 17 31,402,833 (GRCm39) nonsense probably null
R6918:Tmprss3 UTSW 17 31,407,331 (GRCm39) missense probably benign 0.19
R8279:Tmprss3 UTSW 17 31,416,709 (GRCm39) missense probably benign 0.20
R8372:Tmprss3 UTSW 17 31,403,671 (GRCm39) missense probably benign 0.00
R8427:Tmprss3 UTSW 17 31,407,358 (GRCm39) missense probably damaging 0.99
R8443:Tmprss3 UTSW 17 31,413,976 (GRCm39) missense possibly damaging 0.81
R9041:Tmprss3 UTSW 17 31,410,014 (GRCm39) missense probably benign 0.02
R9315:Tmprss3 UTSW 17 31,403,644 (GRCm39) missense probably null 0.46
R9388:Tmprss3 UTSW 17 31,410,041 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16