Incidental Mutation 'IGL02974:Tmprss11d'
ID406282
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmprss11d
Ensembl Gene ENSMUSG00000061259
Gene Nametransmembrane protease, serine 11d
SynonymsAsP
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.071) question?
Stock #IGL02974
Quality Score
Status
Chromosome5
Chromosomal Location86302217-86373420 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 86306376 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 190 (V190A)
Ref Sequence ENSEMBL: ENSMUSP00000113079 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031175] [ENSMUST00000122377]
Predicted Effect probably damaging
Transcript: ENSMUST00000031175
AA Change: V328A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000031175
Gene: ENSMUSG00000061259
AA Change: V328A

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
SEA 41 164 4.92e-2 SMART
Tryp_SPc 185 411 1.29e-86 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000122377
AA Change: V190A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113079
Gene: ENSMUSG00000061259
AA Change: V190A

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Tryp_SPc 47 273 1.29e-86 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 trypsin-like serine protease released from the submucosal serous glands onto mucous membrane. It is a type II integral membrane protein and has 29-38% identity in the sequence of the catalytic region with human hepsin, enteropeptidase, acrosin, and mast cell tryptase. The noncatalytic region has little similarity to other known proteins. This protein may play some biological role in the host defense system on the mucous membrane independently of or in cooperation with other substances in airway mucous or bronchial secretions. [provided by RefSeq, Jul 2008]
PHENOTYPE: Aged female mice homozygous for a knock-in allele exhibit increased lymphoma incidence. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730480H06Rik C T 5: 48,388,137 T242M probably damaging Het
Abcg3 A T 5: 104,968,263 I235N probably damaging Het
Agbl3 T C 6: 34,799,822 L416S probably damaging Het
Alcam T C 16: 52,295,716 D165G probably benign Het
Aldh18a1 T A 19: 40,569,084 I341F probably damaging Het
Amn T C 12: 111,271,141 V7A probably benign Het
Apc C T 18: 34,268,383 probably benign Het
Arg2 T C 12: 79,150,792 Y195H probably damaging Het
Bdp1 A T 13: 100,055,292 M22K probably benign Het
Cacna1s T G 1: 136,092,617 N797K possibly damaging Het
Chd8 T A 14: 52,201,701 probably null Het
Clstn2 G A 9: 97,532,707 T378M probably damaging Het
Elf2 A G 3: 51,257,689 V298A probably damaging Het
Fbn1 C T 2: 125,346,330 D1530N probably null Het
Fcrls A T 3: 87,257,397 I274N possibly damaging Het
Fmo3 C T 1: 162,983,050 E24K probably damaging Het
Fndc3b A T 3: 27,488,276 N408K probably damaging Het
Foxn2 A T 17: 88,463,115 N130I probably damaging Het
Fscb T A 12: 64,471,525 I1056F unknown Het
Gimap5 A C 6: 48,753,377 T294P possibly damaging Het
Gm20489 T C X: 101,263,714 Q11R probably damaging Het
Gpr3 T C 4: 133,210,909 T151A possibly damaging Het
Gzmc T A 14: 56,233,994 H30L probably damaging Het
Ints6l C A X: 56,506,936 S845Y probably benign Het
Iqcf3 A T 9: 106,553,645 C101* probably null Het
Krt82 G A 15: 101,550,585 Q7* probably null Het
L3mbtl1 A T 2: 162,970,183 H716L possibly damaging Het
Lefty1 C A 1: 180,935,277 H56Q probably benign Het
Lrp1 T C 10: 127,555,016 Y3004C probably damaging Het
Lrp10 C A 14: 54,467,884 S177* probably null Het
Naa15 A G 3: 51,461,207 K576R possibly damaging Het
Naip2 A G 13: 100,161,678 S617P probably damaging Het
Olfm1 T G 2: 28,229,689 N445K probably damaging Het
Olfr1187-ps1 C T 2: 88,540,235 silent Het
Olfr1449 T G 19: 12,935,035 V99G probably benign Het
Ostm1 T A 10: 42,683,162 N139K probably damaging Het
Ovol1 A G 19: 5,551,149 Y205H probably damaging Het
Pappa C T 4: 65,204,935 L836F probably damaging Het
Pcdhb15 C A 18: 37,475,014 T433N probably damaging Het
Ppfia2 A G 10: 106,800,776 K229E probably benign Het
Ppm1b T A 17: 84,993,824 V44E possibly damaging Het
Rapgef1 T C 2: 29,710,216 F611L possibly damaging Het
Rev3l T A 10: 39,862,747 Y2832* probably null Het
Robo1 T A 16: 73,006,862 Y1099N probably benign Het
Sf3b1 T C 1: 55,007,707 H226R probably benign Het
Slc26a4 C T 12: 31,529,554 V570I probably damaging Het
Slc27a1 C A 8: 71,584,203 A361D probably damaging Het
Srp68 T C 11: 116,246,225 N549D probably benign Het
Terb1 G T 8: 104,494,968 S202* probably null Het
Tmc1 T A 19: 20,900,844 M96L probably benign Het
Ttll6 G A 11: 96,156,702 C709Y probably benign Het
Uba1 A G X: 20,678,720 H712R probably benign Het
Unc80 A C 1: 66,525,658 T835P possibly damaging Het
Vmn2r14 G A 5: 109,221,426 P94S possibly damaging Het
Yes1 C T 5: 32,660,768 A383V probably damaging Het
Other mutations in Tmprss11d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02393:Tmprss11d APN 5 86303612 makesense probably null
IGL02519:Tmprss11d APN 5 86306305 missense probably damaging 1.00
IGL02666:Tmprss11d APN 5 86331193 missense probably damaging 1.00
IGL03305:Tmprss11d APN 5 86326420 missense probably damaging 1.00
R0440:Tmprss11d UTSW 5 86338812 missense probably damaging 0.96
R1261:Tmprss11d UTSW 5 86309380 missense possibly damaging 0.52
R1544:Tmprss11d UTSW 5 86338799 missense probably damaging 1.00
R2018:Tmprss11d UTSW 5 86339554 missense probably damaging 0.97
R2036:Tmprss11d UTSW 5 86309269 missense probably damaging 0.97
R2267:Tmprss11d UTSW 5 86373349 missense probably benign 0.01
R4063:Tmprss11d UTSW 5 86309318 missense probably benign 0.04
R4087:Tmprss11d UTSW 5 86309279 missense probably damaging 1.00
R4665:Tmprss11d UTSW 5 86309401 missense probably damaging 1.00
R4666:Tmprss11d UTSW 5 86309401 missense probably damaging 1.00
R4784:Tmprss11d UTSW 5 86306281 missense probably damaging 0.99
R4785:Tmprss11d UTSW 5 86306281 missense probably damaging 0.99
R5077:Tmprss11d UTSW 5 86309263 critical splice donor site probably null
R5201:Tmprss11d UTSW 5 86309355 missense possibly damaging 0.92
R5350:Tmprss11d UTSW 5 86338887 missense probably benign 0.08
R5523:Tmprss11d UTSW 5 86338870 missense probably benign 0.05
R5618:Tmprss11d UTSW 5 86306295 missense probably benign
R5643:Tmprss11d UTSW 5 86326529 missense probably benign 0.00
R5834:Tmprss11d UTSW 5 86306310 missense probably damaging 1.00
R6422:Tmprss11d UTSW 5 86309425 missense probably damaging 1.00
R6706:Tmprss11d UTSW 5 86331103 missense probably benign 0.03
R6735:Tmprss11d UTSW 5 86309300 missense probably damaging 1.00
R6778:Tmprss11d UTSW 5 86309350 missense probably benign 0.34
R7013:Tmprss11d UTSW 5 86326573 missense probably damaging 0.99
R7273:Tmprss11d UTSW 5 86337239 missense probably damaging 1.00
R7488:Tmprss11d UTSW 5 86326450 missense probably damaging 1.00
Posted On2016-08-02