Incidental Mutation 'IGL02393:Tmprss11d'
ID 293895
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 # IGL02393
Quality Score
Status
Chromosome 5
Chromosomal Location 86450713-86521246 bp(-) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) T to A at 86451471 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Leucine at position 280 (*280L)
Ref Sequence ENSEMBL: ENSMUSP00000113079 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031175] [ENSMUST00000122377]
AlphaFold Q8VHK8
Predicted Effect probably null
Transcript: ENSMUST00000031175
AA Change: *418L
SMART Domains Protein: ENSMUSP00000031175
Gene: ENSMUSG00000061259
AA Change: *418L

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 null
Transcript: ENSMUST00000122377
AA Change: *280L
SMART Domains Protein: ENSMUSP00000113079
Gene: ENSMUSG00000061259
AA Change: *280L

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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam32 A T 8: 25,410,069 (GRCm39) Y129N probably damaging Het
Afap1l2 T C 19: 56,902,872 (GRCm39) K695R probably damaging Het
Arhgap18 T G 10: 26,753,179 (GRCm39) S357R probably benign Het
Camsap1 T C 2: 25,828,334 (GRCm39) H1130R probably benign Het
Cdkl4 A G 17: 80,867,844 (GRCm39) F35L probably damaging Het
Crnn A G 3: 93,056,675 (GRCm39) H487R probably damaging Het
Dcaf4 C T 12: 83,576,805 (GRCm39) P95L probably damaging Het
Deaf1 A T 7: 140,893,246 (GRCm39) V382E possibly damaging Het
Dph7 T G 2: 24,856,609 (GRCm39) V187G possibly damaging Het
Fat3 G T 9: 15,899,708 (GRCm39) C3108* probably null Het
Ggt5 T C 10: 75,446,071 (GRCm39) probably benign Het
Kif26a G A 12: 112,139,098 (GRCm39) V396M probably damaging Het
Med17 G A 9: 15,188,963 (GRCm39) R101* probably null Het
Mterf4 C T 1: 93,230,601 (GRCm39) V182I possibly damaging Het
Nsg1 T C 5: 38,316,255 (GRCm39) D32G probably damaging Het
Or5k8 A G 16: 58,644,409 (GRCm39) I221T probably damaging Het
Or6c3 T C 10: 129,309,064 (GRCm39) S168P probably damaging Het
Or6c65 T A 10: 129,603,662 (GRCm39) V99E probably benign Het
P3h2 T C 16: 25,811,575 (GRCm39) Y216C probably damaging Het
Pdzd9 A C 7: 120,262,206 (GRCm39) Y85* probably null Het
Prkdc T A 16: 15,634,622 (GRCm39) V3589D probably benign Het
Qars1 A G 9: 108,391,528 (GRCm39) T26A probably benign Het
Relch A G 1: 105,615,093 (GRCm39) I253M probably damaging Het
Rhd T C 4: 134,611,406 (GRCm39) S189P probably benign Het
Rhobtb1 A T 10: 69,124,817 (GRCm39) H555L probably damaging Het
Rogdi G A 16: 4,827,088 (GRCm39) S306F probably benign Het
Slc25a25 C T 2: 32,307,855 (GRCm39) V259I probably benign Het
Srrm1 A T 4: 135,048,725 (GRCm39) probably benign Het
Stkld1 T C 2: 26,840,154 (GRCm39) V408A probably benign Het
Thbs1 T C 2: 117,953,580 (GRCm39) V999A possibly damaging Het
Trim54 A G 5: 31,289,324 (GRCm39) probably benign Het
Tspear G A 10: 77,672,407 (GRCm39) R202H probably damaging Het
Vwa8 G A 14: 79,420,417 (GRCm39) G1706D probably damaging Het
Other mutations in Tmprss11d
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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