Incidental Mutation 'IGL02111:Tmprss13'
ID280133
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmprss13
Ensembl Gene ENSMUSG00000037129
Gene Nametransmembrane protease, serine 13
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02111
Quality Score
Status
Chromosome9
Chromosomal Location45319100-45347581 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 45336105 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 255 (T255I)
Ref Sequence ENSEMBL: ENSMUSP00000034597 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034597]
Predicted Effect probably damaging
Transcript: ENSMUST00000034597
AA Change: T255I

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000034597
Gene: ENSMUSG00000037129
AA Change: T255I

DomainStartEndE-ValueType
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530077C05Rik T C 9: 22,424,179 I31T probably benign Het
Adgrg3 G A 8: 95,034,999 R130Q probably damaging Het
Adipor2 A T 6: 119,370,196 L42* probably null Het
Ankrd45 A G 1: 161,163,351 K259E probably damaging Het
Apoc3 T C 9: 46,234,474 K79R possibly damaging Het
Arhgap40 T C 2: 158,539,844 Y416H probably damaging Het
Armc5 A G 7: 128,244,083 T683A probably benign Het
Bora T C 14: 99,047,377 V21A probably damaging Het
Cacna1b C T 2: 24,606,991 S2189N probably damaging Het
Cct2 G A 10: 117,053,112 T57I probably damaging Het
Cd200r1 A T 16: 44,788,781 N34Y probably damaging Het
Cd300ld2 T A 11: 115,012,393 probably benign Het
Cntnap5a G A 1: 116,089,352 R225H probably benign Het
Cntnap5c A T 17: 58,102,108 D447V probably damaging Het
Cpne7 T C 8: 123,125,653 probably benign Het
Dap3 G A 3: 88,929,418 T92I probably benign Het
Dnmbp A G 19: 43,867,555 L254P probably damaging Het
Egfem1 G A 3: 29,650,896 probably null Het
Fam120b T C 17: 15,402,585 L275P possibly damaging Het
Fam161a A T 11: 23,020,026 H68L probably benign Het
Fam193a A G 5: 34,410,657 E100G possibly damaging Het
Ftmt A T 18: 52,332,053 D147V possibly damaging Het
Gm10136 T C 19: 29,003,722 K41E probably benign Het
Gm10797 C T 10: 67,572,567 noncoding transcript Het
Hsf1 A G 15: 76,496,081 probably benign Het
Ipo8 A G 6: 148,799,780 V514A probably damaging Het
Itfg2 T C 6: 128,410,381 H422R probably benign Het
Lrp4 G T 2: 91,506,059 L1738F probably damaging Het
Mettl17 A G 14: 51,891,386 E371G probably damaging Het
Mfsd6 A T 1: 52,708,344 L454Q probably damaging Het
Myh10 A T 11: 68,790,112 E956V probably damaging Het
Ncoa1 A T 12: 4,274,944 M1K probably null Het
Olfr1163 T A 2: 88,071,227 N52Y probably benign Het
Olfr677 A G 7: 105,056,945 D233G probably benign Het
Olfr709-ps1 A C 7: 106,926,616 V281G probably damaging Het
Otop1 T A 5: 38,277,701 C89S probably benign Het
Pitrm1 G T 13: 6,573,145 R775L probably benign Het
Prpf19 A G 19: 10,905,094 T512A probably benign Het
Prpf4b T A 13: 34,883,961 S258T probably benign Het
Rhbdl2 T C 4: 123,822,837 Y196H probably damaging Het
Rnf187 T C 11: 58,937,180 D148G probably damaging Het
Sbds A G 5: 130,250,941 I74T probably damaging Het
Sec63 T C 10: 42,810,888 V468A probably damaging Het
Slc35b3 A T 13: 38,955,782 M23K probably damaging Het
Slc6a9 A T 4: 117,864,013 Y208F probably benign Het
Slfn8 A T 11: 83,004,498 L494Q probably damaging Het
Sorcs1 T G 19: 50,230,245 M600L probably benign Het
Supt7l T C 5: 31,515,678 probably null Het
Tecrl T A 5: 83,354,792 Q70L probably damaging Het
Tedc2 A T 17: 24,218,166 probably benign Het
Tespa1 A G 10: 130,355,484 D99G probably damaging Het
Tmem126b G T 7: 90,469,061 Q204K probably damaging Het
Tmem181c-ps A T 17: 6,620,367 noncoding transcript Het
Tmem184a G T 5: 139,813,101 T31K possibly damaging Het
Tmprss11e T A 5: 86,719,801 I137F possibly damaging Het
Top1mt G A 15: 75,665,706 probably benign Het
Treh C T 9: 44,682,961 T168I probably benign Het
Ttn A T 2: 76,767,328 I11420N probably benign Het
Zp2 T C 7: 120,132,418 K705E possibly damaging Het
Zw10 T C 9: 49,068,754 I395T probably damaging Het
Other mutations in Tmprss13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02112:Tmprss13 APN 9 45339404 missense probably damaging 1.00
IGL02116:Tmprss13 APN 9 45333674 missense probably benign
IGL02669:Tmprss13 APN 9 45332526 missense probably benign 0.18
IGL02961:Tmprss13 APN 9 45345003 missense probably damaging 1.00
FR4449:Tmprss13 UTSW 9 45328558 missense unknown
R0233:Tmprss13 UTSW 9 45337100 splice site probably benign
R0271:Tmprss13 UTSW 9 45333688 splice site probably benign
R0415:Tmprss13 UTSW 9 45337132 intron probably null
R0742:Tmprss13 UTSW 9 45332467 missense probably damaging 0.98
R1178:Tmprss13 UTSW 9 45328647 missense unknown
R1447:Tmprss13 UTSW 9 45328580 missense unknown
R1493:Tmprss13 UTSW 9 45336107 missense probably benign 0.00
R1574:Tmprss13 UTSW 9 45343231 missense probably damaging 1.00
R1574:Tmprss13 UTSW 9 45343231 missense probably damaging 1.00
R1599:Tmprss13 UTSW 9 45338318 missense probably damaging 1.00
R2007:Tmprss13 UTSW 9 45332545 missense probably damaging 1.00
R2093:Tmprss13 UTSW 9 45345042 missense probably damaging 0.99
R5666:Tmprss13 UTSW 9 45344955 missense probably damaging 0.99
R5670:Tmprss13 UTSW 9 45344955 missense probably damaging 0.99
R6273:Tmprss13 UTSW 9 45345332 missense probably damaging 1.00
R6343:Tmprss13 UTSW 9 45343200 missense possibly damaging 0.66
R6583:Tmprss13 UTSW 9 45345305 missense probably damaging 1.00
R6671:Tmprss13 UTSW 9 45343231 missense probably damaging 1.00
R6777:Tmprss13 UTSW 9 45336101 nonsense probably null
R7135:Tmprss13 UTSW 9 45338345 missense probably damaging 1.00
R7468:Tmprss13 UTSW 9 45328423 missense unknown
R7617:Tmprss13 UTSW 9 45333560 nonsense probably null
R8062:Tmprss13 UTSW 9 45328688 missense unknown
RF009:Tmprss13 UTSW 9 45328464 small insertion probably benign
RF039:Tmprss13 UTSW 9 45328464 small insertion probably benign
S24628:Tmprss13 UTSW 9 45337132 intron probably null
Z1177:Tmprss13 UTSW 9 45337090 critical splice donor site probably null
Z1177:Tmprss13 UTSW 9 45343192 missense probably benign 0.04
Posted On2015-04-16