Incidental Mutation 'IGL03305:Tmprss11d'
ID 416368
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 # IGL03305
Quality Score
Status
Chromosome 5
Chromosomal Location 86450713-86521246 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 86474279 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 88 (H88R)
Ref Sequence ENSEMBL: ENSMUSP00000113079 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031175] [ENSMUST00000122377]
AlphaFold Q8VHK8
Predicted Effect probably damaging
Transcript: ENSMUST00000031175
AA Change: H226R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031175
Gene: ENSMUSG00000061259
AA Change: H226R

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: H88R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113079
Gene: ENSMUSG00000061259
AA Change: H88R

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: 12 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A330008L17Rik T A 8: 100,146,462 (GRCm39) probably benign Het
Akap3 G A 6: 126,841,728 (GRCm39) V116I probably benign Het
B4galt5 T C 2: 167,147,703 (GRCm39) D224G probably damaging Het
Bmpr1b G T 3: 141,548,785 (GRCm39) probably benign Het
Chmp2a T C 7: 12,766,082 (GRCm39) K137E possibly damaging Het
Cpeb1 T C 7: 81,011,464 (GRCm39) K159R probably benign Het
Dhx36 G A 3: 62,408,257 (GRCm39) Q194* probably null Het
Gm4922 T A 10: 18,659,232 (GRCm39) K497* probably null Het
Grid1 A G 14: 34,973,664 (GRCm39) N247S probably damaging Het
Npy6r A G 18: 44,408,921 (GRCm39) Y114C probably damaging Het
Ppl A G 16: 4,911,097 (GRCm39) V785A possibly damaging Het
Wdr64 G A 1: 175,583,152 (GRCm39) V373M possibly damaging 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
IGL02666:Tmprss11d APN 5 86,479,052 (GRCm39) missense probably damaging 1.00
IGL02974:Tmprss11d APN 5 86,454,235 (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 2016-08-02