Incidental Mutation 'IGL02666:Tmprss11d'
ID 302729
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmprss11d
Ensembl Gene ENSMUSG00000061259
Gene Name transmembrane protease, serine 11d
Synonyms AsP
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # IGL02666
Quality Score
Status
Chromosome 5
Chromosomal Location 86450713-86521246 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 86479052 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 117 (V117D)
Ref Sequence ENSEMBL: ENSMUSP00000031175 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031175] [ENSMUST00000122377]
AlphaFold Q8VHK8
PDB Structure Crystal structure of SEA domain of transmembrane protease from Mus musculus [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000031175
AA Change: V117D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031175
Gene: ENSMUSG00000061259
AA Change: V117D

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 benign
Transcript: ENSMUST00000122377
SMART Domains Protein: ENSMUSP00000113079
Gene: ENSMUSG00000061259

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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9230109A22Rik T C 15: 25,138,944 (GRCm39) noncoding transcript Het
Abca15 G A 7: 119,934,431 (GRCm39) V136M probably damaging Het
Abhd3 A G 18: 10,645,148 (GRCm39) I382T probably benign Het
Cux1 C A 5: 136,304,169 (GRCm39) E1336* probably null Het
Cyb5r3 T C 15: 83,044,554 (GRCm39) I155V probably damaging Het
Ddx24 T C 12: 103,390,314 (GRCm39) T226A possibly damaging Het
Dld T C 12: 31,382,408 (GRCm39) N465S probably null Het
Dnmbp A G 19: 43,842,566 (GRCm39) probably benign Het
Dock9 T C 14: 121,818,111 (GRCm39) H1580R probably benign Het
Drd3 C A 16: 43,637,319 (GRCm39) probably benign Het
Gabrb2 G T 11: 42,420,322 (GRCm39) probably null Het
Gbp9 T C 5: 105,242,141 (GRCm39) probably null Het
Inhba A T 13: 16,201,664 (GRCm39) I409F possibly damaging Het
Iqgap2 T C 13: 95,764,564 (GRCm39) N1560S probably damaging Het
Itsn1 A G 16: 91,617,606 (GRCm39) probably benign Het
Kat6b T C 14: 21,678,938 (GRCm39) F434L probably damaging Het
Klra1 A G 6: 130,341,278 (GRCm39) C232R probably damaging Het
Krt18 T A 15: 101,938,302 (GRCm39) I175N probably damaging Het
Lck A G 4: 129,450,212 (GRCm39) V178A probably damaging Het
Mroh4 C A 15: 74,481,624 (GRCm39) G737V probably benign Het
Mug2 A C 6: 122,058,285 (GRCm39) L1282F probably damaging Het
Myo9a A G 9: 59,832,187 (GRCm39) N2572S probably benign Het
Nup88 G T 11: 70,834,695 (GRCm39) probably benign Het
Nxph3 G T 11: 95,401,834 (GRCm39) H193Q possibly damaging Het
Or5b97 G T 19: 12,878,221 (GRCm39) H308N probably benign Het
Orm2 A G 4: 63,283,970 (GRCm39) T198A possibly damaging Het
Pom121 T C 5: 135,415,686 (GRCm39) I397V unknown Het
Prex1 C A 2: 166,414,909 (GRCm39) E1313D probably benign Het
Prkg2 T A 5: 99,145,378 (GRCm39) probably benign Het
Prl2a1 A T 13: 27,990,310 (GRCm39) K86N possibly damaging Het
Ptpro G A 6: 137,355,057 (GRCm39) S188N probably damaging Het
Ptprz1 A T 6: 23,001,209 (GRCm39) I1100F probably benign Het
Ryr1 C A 7: 28,719,188 (GRCm39) M4406I unknown Het
Sdf4 T A 4: 156,093,281 (GRCm39) Y204* probably null Het
Serinc1 A T 10: 57,400,089 (GRCm39) probably null Het
Slc39a5 C T 10: 128,234,324 (GRCm39) R193H probably damaging Het
Smad9 A G 3: 54,689,888 (GRCm39) K36R probably damaging Het
Spam1 T A 6: 24,796,123 (GRCm39) L25I possibly damaging Het
Stab2 A T 10: 86,686,766 (GRCm39) S809R possibly damaging Het
Szt2 G A 4: 118,231,252 (GRCm39) R35C probably damaging Het
Tcaf2 C A 6: 42,606,058 (GRCm39) probably benign Het
Tfap2d A C 1: 19,174,979 (GRCm39) D144A probably benign Het
Tnxb A G 17: 34,903,913 (GRCm39) D1141G probably benign Het
Traf6 A T 2: 101,527,512 (GRCm39) T421S possibly damaging Het
Txndc16 G A 14: 45,448,607 (GRCm39) probably benign Het
Utp25 G A 1: 192,789,904 (GRCm39) Q752* probably null Het
Vmn1r73 C A 7: 11,490,865 (GRCm39) P228T probably damaging Het
Vmn2r4 A G 3: 64,296,433 (GRCm39) I784T probably benign Het
Zfp420 A G 7: 29,573,795 (GRCm39) D5G probably benign Het
Other mutations in Tmprss11d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02393:Tmprss11d APN 5 86,451,471 (GRCm39) makesense probably null
IGL02519:Tmprss11d APN 5 86,454,164 (GRCm39) missense probably damaging 1.00
IGL02974:Tmprss11d APN 5 86,454,235 (GRCm39) missense probably damaging 1.00
IGL03305:Tmprss11d APN 5 86,474,279 (GRCm39) missense probably damaging 1.00
R0440:Tmprss11d UTSW 5 86,486,671 (GRCm39) missense probably damaging 0.96
R1261:Tmprss11d UTSW 5 86,457,239 (GRCm39) missense possibly damaging 0.52
R1544:Tmprss11d UTSW 5 86,486,658 (GRCm39) missense probably damaging 1.00
R2018:Tmprss11d UTSW 5 86,487,413 (GRCm39) missense probably damaging 0.97
R2036:Tmprss11d UTSW 5 86,457,128 (GRCm39) missense probably damaging 0.97
R2267:Tmprss11d UTSW 5 86,521,208 (GRCm39) missense probably benign 0.01
R4063:Tmprss11d UTSW 5 86,457,177 (GRCm39) missense probably benign 0.04
R4087:Tmprss11d UTSW 5 86,457,138 (GRCm39) missense probably damaging 1.00
R4665:Tmprss11d UTSW 5 86,457,260 (GRCm39) missense probably damaging 1.00
R4666:Tmprss11d UTSW 5 86,457,260 (GRCm39) missense probably damaging 1.00
R4784:Tmprss11d UTSW 5 86,454,140 (GRCm39) missense probably damaging 0.99
R4785:Tmprss11d UTSW 5 86,454,140 (GRCm39) missense probably damaging 0.99
R5077:Tmprss11d UTSW 5 86,457,122 (GRCm39) critical splice donor site probably null
R5201:Tmprss11d UTSW 5 86,457,214 (GRCm39) missense possibly damaging 0.92
R5350:Tmprss11d UTSW 5 86,486,746 (GRCm39) missense probably benign 0.08
R5523:Tmprss11d UTSW 5 86,486,729 (GRCm39) missense probably benign 0.05
R5618:Tmprss11d UTSW 5 86,454,154 (GRCm39) missense probably benign
R5643:Tmprss11d UTSW 5 86,474,388 (GRCm39) missense probably benign 0.00
R5834:Tmprss11d UTSW 5 86,454,169 (GRCm39) missense probably damaging 1.00
R6422:Tmprss11d UTSW 5 86,457,284 (GRCm39) missense probably damaging 1.00
R6706:Tmprss11d UTSW 5 86,478,962 (GRCm39) missense probably benign 0.03
R6735:Tmprss11d UTSW 5 86,457,159 (GRCm39) missense probably damaging 1.00
R6778:Tmprss11d UTSW 5 86,457,209 (GRCm39) missense probably benign 0.34
R7013:Tmprss11d UTSW 5 86,474,432 (GRCm39) missense probably damaging 0.99
R7273:Tmprss11d UTSW 5 86,485,098 (GRCm39) missense probably damaging 1.00
R7488:Tmprss11d UTSW 5 86,474,309 (GRCm39) missense probably damaging 1.00
R7627:Tmprss11d UTSW 5 86,457,365 (GRCm39) missense possibly damaging 0.73
R7742:Tmprss11d UTSW 5 86,451,493 (GRCm39) missense probably damaging 0.98
R7937:Tmprss11d UTSW 5 86,457,349 (GRCm39) missense probably benign 0.06
R8419:Tmprss11d UTSW 5 86,457,165 (GRCm39) missense probably damaging 1.00
R8794:Tmprss11d UTSW 5 86,486,680 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16