Incidental Mutation 'IGL02525:Tmprss3'
ID 297082
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 # IGL02525
Quality Score
Status
Chromosome 17
Chromosomal Location 31398239-31417951 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 31413865 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000110196 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024833] [ENSMUST00000114549]
AlphaFold Q8K1T0
Predicted Effect probably benign
Transcript: ENSMUST00000024833
SMART Domains Protein: ENSMUSP00000024833
Gene: ENSMUSG00000024034

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 benign
Transcript: ENSMUST00000114549
SMART Domains Protein: ENSMUSP00000110196
Gene: ENSMUSG00000024034

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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam18 C T 8: 25,101,060 (GRCm39) V701I probably benign Het
Adam18 A G 8: 25,131,783 (GRCm39) probably benign Het
Adamts20 G T 15: 94,180,959 (GRCm39) probably null Het
Adgrf5 G T 17: 43,760,854 (GRCm39) V850F probably damaging Het
Agap2 T A 10: 126,919,070 (GRCm39) probably null Het
Ap4b1 G A 3: 103,720,164 (GRCm39) R62K probably damaging Het
Atp2a3 C A 11: 72,866,165 (GRCm39) H262N probably benign Het
Ccdc12 T A 9: 110,540,169 (GRCm39) D120E probably damaging Het
Ccdc22 A G X: 7,461,249 (GRCm39) S529P probably damaging Het
Cilk1 A G 9: 78,067,675 (GRCm39) K390E probably benign Het
Col1a2 A G 6: 4,531,355 (GRCm39) probably benign Het
Ddx59 A T 1: 136,344,743 (GRCm39) Q138L probably benign Het
Dlc1 A T 8: 37,046,800 (GRCm39) F1091L probably damaging Het
Dnah1 C T 14: 31,027,790 (GRCm39) V682M probably benign Het
Dock9 C T 14: 121,877,538 (GRCm39) D404N probably damaging Het
Eif2b4 A G 5: 31,346,962 (GRCm39) V402A probably damaging Het
Erlin1 T C 19: 44,027,634 (GRCm39) H268R probably benign Het
Ermard T C 17: 15,279,601 (GRCm39) probably benign Het
Fam43a A G 16: 30,419,596 (GRCm39) K60R probably benign Het
Frmd4b T A 6: 97,389,494 (GRCm39) D78V probably damaging Het
Gabrq A G X: 71,880,430 (GRCm39) T308A possibly damaging Het
Gipr A G 7: 18,893,690 (GRCm39) C328R possibly damaging Het
Gm17078 T C 14: 51,848,680 (GRCm39) N19S possibly damaging Het
Gm17541 T C 12: 4,739,907 (GRCm39) probably benign Het
Gm21759 T C 5: 8,229,967 (GRCm39) probably benign Het
Gm7964 A G 7: 83,405,250 (GRCm39) noncoding transcript Het
Gspt1 A G 16: 11,048,854 (GRCm39) V318A probably damaging Het
Gtf2ird2 A G 5: 134,245,319 (GRCm39) S526G probably benign Het
Hey2 A G 10: 30,718,643 (GRCm39) M1T probably null Het
Hipk3 T C 2: 104,301,757 (GRCm39) D145G probably damaging Het
Itgae A G 11: 73,021,777 (GRCm39) D886G probably damaging Het
Ktn1 T A 14: 47,962,200 (GRCm39) probably null Het
Med12l A G 3: 58,975,789 (GRCm39) K239R probably benign Het
Milr1 A T 11: 106,656,101 (GRCm39) M124L probably benign Het
Mon1b G T 8: 114,365,455 (GRCm39) R261L possibly damaging Het
Mterf1a G A 5: 3,941,583 (GRCm39) S95F probably benign Het
Myef2 C A 2: 124,955,978 (GRCm39) probably benign Het
Nfrkb T A 9: 31,325,812 (GRCm39) I1085N possibly damaging Het
Or13f5 A T 4: 52,825,616 (GRCm39) Y73F probably damaging Het
Or8d2 T A 9: 38,759,536 (GRCm39) M42K possibly damaging Het
Prodh G A 16: 17,890,332 (GRCm39) Q430* probably null Het
Pstk G T 7: 130,972,922 (GRCm39) R7L probably benign Het
Ptgr1 C A 4: 58,978,067 (GRCm39) E108D probably benign Het
Ptpn9 T A 9: 56,944,009 (GRCm39) Y294* probably null Het
Rnls C T 19: 33,115,614 (GRCm39) V153M possibly damaging Het
Ros1 T C 10: 51,992,138 (GRCm39) T1362A possibly damaging Het
Samt3 G A X: 85,090,527 (GRCm39) A140T possibly damaging Het
Sbpl T A 17: 24,173,837 (GRCm39) M16L unknown Het
Sephs1 G A 2: 4,911,407 (GRCm39) C327Y probably damaging Het
Slc13a1 A T 6: 24,137,135 (GRCm39) I93N probably damaging Het
Slc34a1 T C 13: 55,551,051 (GRCm39) probably benign Het
Slc7a9 T C 7: 35,152,860 (GRCm39) S93P probably damaging Het
Slx4 A G 16: 3,798,461 (GRCm39) S1444P probably damaging Het
Spmap2l T A 5: 77,164,400 (GRCm39) D134E probably benign Het
Stk32b C T 5: 37,688,977 (GRCm39) V116M probably damaging Het
Supt5 A G 7: 28,018,372 (GRCm39) probably benign Het
Syne2 T A 12: 76,147,777 (GRCm39) S6439T probably damaging Het
Taar7d A G 10: 23,903,994 (GRCm39) D292G possibly damaging Het
Tal2 A T 4: 53,785,971 (GRCm39) I51F probably damaging Het
Tk2 A T 8: 104,970,032 (GRCm39) N77K probably benign Het
Tnfrsf10b T C 14: 70,019,825 (GRCm39) M319T probably damaging Het
Trim24 A G 6: 37,922,653 (GRCm39) R417G probably damaging Het
Ttn C A 2: 76,594,658 (GRCm39) G18717* probably null Het
Vmn2r102 A G 17: 19,901,447 (GRCm39) T525A probably benign Het
Wdr38 A T 2: 38,888,424 (GRCm39) N7I probably damaging Het
Wnt3 C T 11: 103,703,296 (GRCm39) R260W probably damaging Het
Xdh T A 17: 74,231,990 (GRCm39) Q240L possibly damaging Het
Zbtb5 T C 4: 44,994,731 (GRCm39) T218A probably benign Het
Znfx1 C T 2: 166,879,457 (GRCm39) E776K probably benign 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
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 2015-04-16