Incidental Mutation 'IGL00159:Tmprss3'
ID810
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: 0.078) question?
Stock #IGL00159
Quality Score
Status
Chromosome17
Chromosomal Location31179272-31198975 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 31195008 bp
ZygosityHeterozygous
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]
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
9030624J02Rik G A 7: 118,797,047 probably null Het
Axin1 A T 17: 26,142,805 D41V possibly damaging Het
BC034090 C A 1: 155,225,451 E718* probably null Het
Cdc123 G T 2: 5,804,935 Q222K probably benign Het
Clip1 A C 5: 123,603,654 V1053G possibly damaging Het
Dock7 T A 4: 99,063,985 E416V probably damaging Het
Dydc1 T C 14: 41,087,413 L143P probably damaging Het
Dync2h1 A G 9: 7,158,839 V732A probably benign Het
Dzip1l T A 9: 99,637,777 L119Q probably damaging Het
Erp27 T A 6: 136,909,502 S178C probably damaging Het
Fbn1 A G 2: 125,397,873 V298A probably benign Het
Fbxo34 A G 14: 47,529,474 H97R probably damaging Het
Gm20521 C T 14: 54,884,622 Q81* probably null Het
Gspt1 T C 16: 11,222,612 M610V probably damaging Het
Herc1 A G 9: 66,437,682 Q1919R possibly damaging Het
Il19 A G 1: 130,935,055 probably benign Het
Kif14 G A 1: 136,469,018 S354N probably benign Het
Lrrk2 A G 15: 91,747,799 K1309E possibly damaging Het
Lurap1 T C 4: 116,137,690 T115A probably damaging Het
Myo18b G T 5: 112,874,131 T465K probably benign Het
Nwd1 A T 8: 72,671,077 D648V probably damaging Het
Olfr272 T G 4: 52,911,618 M59L possibly damaging Het
Olfr520 G A 7: 99,735,317 R58H probably benign Het
Otof T C 5: 30,375,904 Y1527C probably damaging Het
Otop3 G A 11: 115,344,397 C285Y probably damaging Het
Parp3 A G 9: 106,471,387 I478T probably benign Het
Pdzd2 C T 15: 12,457,983 E265K possibly damaging Het
Pik3c2g T C 6: 139,896,125 L634P probably damaging Het
Prkg1 C A 19: 31,302,340 V165L probably benign Het
Riok3 A G 18: 12,148,891 I306V possibly damaging Het
Ror2 T C 13: 53,113,082 D439G probably benign Het
Scn2a T A 2: 65,743,090 I1428N probably damaging Het
Sgcg C T 14: 61,232,475 D146N probably benign Het
Slc16a9 A G 10: 70,282,699 R283G probably benign Het
Sptb T C 12: 76,621,331 D664G probably benign Het
Ttc37 T C 13: 76,143,278 probably null Het
Tubd1 G T 11: 86,565,729 V374F probably benign Het
Vmn2r57 A T 7: 41,428,785 M83K probably benign Het
Vps13c A G 9: 67,945,999 E2458G probably benign Het
Zhx2 A T 15: 57,822,870 E545V probably damaging Het
Other mutations in Tmprss3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01836:Tmprss3 APN 17 31191044 missense probably benign
IGL02525:Tmprss3 APN 17 31194891 splice site probably benign
IGL02672:Tmprss3 APN 17 31191007 missense probably damaging 1.00
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
Posted On2011-07-12