Incidental Mutation 'IGL00159:Tmprss3'
ID 810
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: 0.052) question?
Stock # IGL00159
Quality Score
Status
Chromosome 17
Chromosomal Location 31398239-31417951 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 31413982 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 54 (D54V)
Ref Sequence ENSEMBL: ENSMUSP00000110196 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024833] [ENSMUST00000114549]
AlphaFold Q8K1T0
Predicted Effect possibly damaging
Transcript: ENSMUST00000024833
AA Change: D32V

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000024833
Gene: ENSMUSG00000024034
AA Change: D32V

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: D54V

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000110196
Gene: ENSMUSG00000024034
AA Change: D54V

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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Axin1 A T 17: 26,361,779 (GRCm39) D41V possibly damaging Het
BC034090 C A 1: 155,101,197 (GRCm39) E718* probably null Het
Cdc123 G T 2: 5,809,746 (GRCm39) Q222K probably benign Het
Clip1 A C 5: 123,741,717 (GRCm39) V1053G possibly damaging Het
Dock7 T A 4: 98,952,222 (GRCm39) E416V probably damaging Het
Dydc1 T C 14: 40,809,370 (GRCm39) L143P probably damaging Het
Dync2h1 A G 9: 7,158,839 (GRCm39) V732A probably benign Het
Dzip1l T A 9: 99,519,830 (GRCm39) L119Q probably damaging Het
Erp27 T A 6: 136,886,500 (GRCm39) S178C probably damaging Het
Fbn1 A G 2: 125,239,793 (GRCm39) V298A probably benign Het
Fbxo34 A G 14: 47,766,931 (GRCm39) H97R probably damaging Het
Gm20521 C T 14: 55,122,079 (GRCm39) Q81* probably null Het
Gspt1 T C 16: 11,040,476 (GRCm39) M610V probably damaging Het
Herc1 A G 9: 66,344,964 (GRCm39) Q1919R possibly damaging Het
Il19 A G 1: 130,862,792 (GRCm39) probably benign Het
Kif14 G A 1: 136,396,756 (GRCm39) S354N probably benign Het
Lrrk2 A G 15: 91,632,002 (GRCm39) K1309E possibly damaging Het
Lurap1 T C 4: 115,994,887 (GRCm39) T115A probably damaging Het
Myo18b G T 5: 113,021,997 (GRCm39) T465K probably benign Het
Nwd1 A T 8: 73,397,705 (GRCm39) D648V probably damaging Het
Or13c25 T G 4: 52,911,618 (GRCm39) M59L possibly damaging Het
Or2at4 G A 7: 99,384,524 (GRCm39) R58H probably benign Het
Otof T C 5: 30,533,248 (GRCm39) Y1527C probably damaging Het
Otop3 G A 11: 115,235,223 (GRCm39) C285Y probably damaging Het
Parp3 A G 9: 106,348,586 (GRCm39) I478T probably benign Het
Pdzd2 C T 15: 12,458,069 (GRCm39) E265K possibly damaging Het
Pik3c2g T C 6: 139,841,851 (GRCm39) L634P probably damaging Het
Prkg1 C A 19: 31,279,740 (GRCm39) V165L probably benign Het
Riok3 A G 18: 12,281,948 (GRCm39) I306V possibly damaging Het
Ror2 T C 13: 53,267,118 (GRCm39) D439G probably benign Het
Scn2a T A 2: 65,573,434 (GRCm39) I1428N probably damaging Het
Sgcg C T 14: 61,469,924 (GRCm39) D146N probably benign Het
Skic3 T C 13: 76,291,397 (GRCm39) probably null Het
Slc16a9 A G 10: 70,118,529 (GRCm39) R283G probably benign Het
Sptb T C 12: 76,668,105 (GRCm39) D664G probably benign Het
Tubd1 G T 11: 86,456,555 (GRCm39) V374F probably benign Het
Vmn2r57 A T 7: 41,078,209 (GRCm39) M83K probably benign Het
Vps13c A G 9: 67,853,281 (GRCm39) E2458G probably benign Het
Vps35l G A 7: 118,396,270 (GRCm39) probably null Het
Zhx2 A T 15: 57,686,266 (GRCm39) E545V probably damaging Het
Other mutations in Tmprss3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01836:Tmprss3 APN 17 31,410,018 (GRCm39) missense probably benign
IGL02525:Tmprss3 APN 17 31,413,865 (GRCm39) splice site probably benign
IGL02672:Tmprss3 APN 17 31,409,981 (GRCm39) missense probably damaging 1.00
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 2011-07-12