Incidental Mutation 'IGL02961:Tmprss13'
ID 365360
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmprss13
Ensembl Gene ENSMUSG00000037129
Gene Name transmembrane protease, serine 13
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02961
Quality Score
Chromosome 9
Chromosomal Location 45230398-45258879 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 45256301 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 472 (T472A)
Ref Sequence ENSEMBL: ENSMUSP00000034597 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034597]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000034597
AA Change: T472A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000034597
Gene: ENSMUSG00000037129
AA Change: T472A

low complexity region 15 99 N/A INTRINSIC
low complexity region 114 128 N/A INTRINSIC
transmembrane domain 147 169 N/A INTRINSIC
LDLa 171 209 2.38e-1 SMART
SR 208 296 5.67e-4 SMART
Tryp_SPc 306 535 1.53e-93 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 member of the type II transmembrane serine protease family. Transmembrane serine proteases are regulated by protease inhibitors and known to function in development, homeostasis, infection, and tumorigenesis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and outwardly healthy but exhibit abnormal stratum corneum formation leading to impaired skin barrier function, as measured by the transepidermal fluid loss rate in newborn pups. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A G 13: 81,671,731 (GRCm39) V2288A probably damaging Het
Agbl4 T A 4: 110,437,318 (GRCm39) N76K probably damaging Het
AI182371 A T 2: 34,976,124 (GRCm39) V258E possibly damaging Het
Alg1 T A 16: 5,052,861 (GRCm39) N80K probably benign Het
Ambra1 A G 2: 91,741,793 (GRCm39) M963V possibly damaging Het
Avil C A 10: 126,844,175 (GRCm39) Q245K probably benign Het
Caml A G 13: 55,779,695 (GRCm39) N256S probably benign Het
Ccdc102a A C 8: 95,629,978 (GRCm39) I521S possibly damaging Het
Ccm2l A G 2: 152,920,521 (GRCm39) T393A probably benign Het
Cdh16 A G 8: 105,341,837 (GRCm39) V91A probably damaging Het
Chd7 A G 4: 8,751,542 (GRCm39) D13G probably damaging Het
Chsy1 T A 7: 65,821,530 (GRCm39) D588E probably benign Het
Cilp T A 9: 65,185,891 (GRCm39) V662E possibly damaging Het
Cog8 A G 8: 107,782,885 (GRCm39) probably benign Het
Cpb2 T C 14: 75,502,823 (GRCm39) V134A probably benign Het
Ctcfl T A 2: 172,943,712 (GRCm39) H546L possibly damaging Het
Dclre1c A G 2: 3,438,070 (GRCm39) D136G probably damaging Het
Dnah2 T A 11: 69,409,240 (GRCm39) E379D probably damaging Het
Extl3 A G 14: 65,294,408 (GRCm39) Y808H possibly damaging Het
Gm7247 T A 14: 51,602,812 (GRCm39) N49K probably damaging Het
Insr T C 8: 3,308,785 (GRCm39) I84V probably benign Het
Ipo7 C T 7: 109,646,223 (GRCm39) P541S probably benign Het
Kcnc3 T C 7: 44,240,916 (GRCm39) S203P probably damaging Het
Myo5a A G 9: 75,122,402 (GRCm39) D1732G probably benign Het
Or10q3 T A 19: 11,847,695 (GRCm39) N295I probably damaging Het
Or52d1 C A 7: 103,756,357 (GRCm39) Y290* probably null Het
Or5p68 T C 7: 107,945,334 (GRCm39) I285V probably benign Het
Or5w22 A G 2: 87,363,028 (GRCm39) Y217C probably damaging Het
Or6x1 T C 9: 40,098,897 (GRCm39) V162A probably benign Het
Pde3a T A 6: 141,405,426 (GRCm39) L426* probably null Het
Pkd1 T A 17: 24,797,089 (GRCm39) D8E possibly damaging Het
Polr3a A T 14: 24,517,108 (GRCm39) Y714* probably null Het
Pramel16 T C 4: 143,675,717 (GRCm39) T370A probably damaging Het
Prb1c A T 6: 132,338,371 (GRCm39) F282L unknown Het
Rasgrf1 T C 9: 89,863,702 (GRCm39) V556A possibly damaging Het
Rev3l T C 10: 39,703,941 (GRCm39) Y1996H possibly damaging Het
Rttn T C 18: 89,071,697 (GRCm39) L1248P probably damaging Het
Slc11a1 T C 1: 74,416,332 (GRCm39) L53P probably damaging Het
Slc22a27 T C 19: 7,903,886 (GRCm39) R84G probably damaging Het
Sptbn4 A G 7: 27,097,392 (GRCm39) L1302P probably damaging Het
Srm T C 4: 148,678,586 (GRCm39) V271A possibly damaging Het
Sycp2 A G 2: 178,022,655 (GRCm39) I492T probably benign Het
Togaram1 A G 12: 65,013,484 (GRCm39) D245G probably damaging Het
Vmn1r184 A T 7: 25,967,075 (GRCm39) I274L probably benign Het
Vmn1r21 T C 6: 57,820,974 (GRCm39) M157V probably benign Het
Wdr90 C A 17: 26,067,649 (GRCm39) E1420* probably null Het
Zfp518a A T 19: 40,903,462 (GRCm39) R1130S probably benign Het
Other mutations in Tmprss13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02111:Tmprss13 APN 9 45,247,403 (GRCm39) missense probably damaging 0.99
IGL02112:Tmprss13 APN 9 45,250,702 (GRCm39) missense probably damaging 1.00
IGL02116:Tmprss13 APN 9 45,244,972 (GRCm39) missense probably benign
IGL02669:Tmprss13 APN 9 45,243,824 (GRCm39) missense probably benign 0.18
FR4449:Tmprss13 UTSW 9 45,239,856 (GRCm39) missense unknown
R0233:Tmprss13 UTSW 9 45,248,398 (GRCm39) splice site probably benign
R0271:Tmprss13 UTSW 9 45,244,986 (GRCm39) splice site probably benign
R0415:Tmprss13 UTSW 9 45,248,430 (GRCm39) splice site probably null
R0742:Tmprss13 UTSW 9 45,243,765 (GRCm39) missense probably damaging 0.98
R1178:Tmprss13 UTSW 9 45,239,945 (GRCm39) missense unknown
R1447:Tmprss13 UTSW 9 45,239,878 (GRCm39) missense unknown
R1493:Tmprss13 UTSW 9 45,247,405 (GRCm39) missense probably benign 0.00
R1574:Tmprss13 UTSW 9 45,254,529 (GRCm39) missense probably damaging 1.00
R1574:Tmprss13 UTSW 9 45,254,529 (GRCm39) missense probably damaging 1.00
R1599:Tmprss13 UTSW 9 45,249,616 (GRCm39) missense probably damaging 1.00
R2007:Tmprss13 UTSW 9 45,243,843 (GRCm39) missense probably damaging 1.00
R2093:Tmprss13 UTSW 9 45,256,340 (GRCm39) missense probably damaging 0.99
R5666:Tmprss13 UTSW 9 45,256,253 (GRCm39) missense probably damaging 0.99
R5670:Tmprss13 UTSW 9 45,256,253 (GRCm39) missense probably damaging 0.99
R6273:Tmprss13 UTSW 9 45,256,630 (GRCm39) missense probably damaging 1.00
R6343:Tmprss13 UTSW 9 45,254,498 (GRCm39) missense possibly damaging 0.66
R6583:Tmprss13 UTSW 9 45,256,603 (GRCm39) missense probably damaging 1.00
R6671:Tmprss13 UTSW 9 45,254,529 (GRCm39) missense probably damaging 1.00
R6777:Tmprss13 UTSW 9 45,247,399 (GRCm39) nonsense probably null
R7135:Tmprss13 UTSW 9 45,249,643 (GRCm39) missense probably damaging 1.00
R7468:Tmprss13 UTSW 9 45,239,721 (GRCm39) missense unknown
R7617:Tmprss13 UTSW 9 45,244,858 (GRCm39) nonsense probably null
R8062:Tmprss13 UTSW 9 45,239,986 (GRCm39) missense unknown
R8871:Tmprss13 UTSW 9 45,249,704 (GRCm39) missense probably damaging 0.97
RF009:Tmprss13 UTSW 9 45,239,762 (GRCm39) small insertion probably benign
RF039:Tmprss13 UTSW 9 45,239,762 (GRCm39) small insertion probably benign
S24628:Tmprss13 UTSW 9 45,248,430 (GRCm39) splice site probably null
Z1177:Tmprss13 UTSW 9 45,254,490 (GRCm39) missense probably benign 0.04
Z1177:Tmprss13 UTSW 9 45,248,388 (GRCm39) critical splice donor site probably null
Posted On 2015-12-18