Incidental Mutation 'R7013:Tmprss11d'
ID 545120
Institutional Source Beutler Lab
Gene Symbol Tmprss11d
Ensembl Gene ENSMUSG00000061259
Gene Name transmembrane protease, serine 11d
Synonyms AsP
MMRRC Submission 045114-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R7013 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 86450713-86521246 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 86474432 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 37 (R37L)
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: R175L

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000031175
Gene: ENSMUSG00000061259
AA Change: R175L

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: R37L

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113079
Gene: ENSMUSG00000061259
AA Change: R37L

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Tryp_SPc 47 273 1.29e-86 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (47/47)
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
A2m A G 6: 121,618,345 (GRCm39) I213V probably null Het
Abcc4 A T 14: 118,763,755 (GRCm39) C952S probably benign Het
Adhfe1 T C 1: 9,620,816 (GRCm39) probably benign Het
Apob T A 12: 8,060,080 (GRCm39) L2854* probably null Het
Arhgap5 T A 12: 52,565,109 (GRCm39) N693K probably benign Het
Arid5b A G 10: 67,933,649 (GRCm39) V508A probably damaging Het
Atl1 A G 12: 70,000,214 (GRCm39) E288G probably damaging Het
Bank1 A G 3: 135,806,270 (GRCm39) S455P possibly damaging Het
Ces1c A T 8: 93,857,392 (GRCm39) L63Q probably damaging Het
Crmp1 A T 5: 37,426,036 (GRCm39) probably null Het
Csnka2ip T C 16: 64,298,780 (GRCm39) D528G unknown Het
Dact2 T C 17: 14,423,796 (GRCm39) T66A probably benign Het
Dkk2 T C 3: 131,880,760 (GRCm39) L135P probably damaging Het
Drc3 A G 11: 60,278,129 (GRCm39) N381S probably benign Het
Dsg4 T C 18: 20,591,578 (GRCm39) V439A possibly damaging Het
Dysf C T 6: 84,114,340 (GRCm39) P1240S probably damaging Het
Esyt1 A T 10: 128,361,520 (GRCm39) V58E probably damaging Het
Exo1 G T 1: 175,721,338 (GRCm39) A326S probably damaging Het
Fam20b A G 1: 156,518,135 (GRCm39) S220P probably damaging Het
Fmo6 G A 1: 162,745,817 (GRCm39) T402I probably benign Het
Galnt10 A T 11: 57,656,410 (GRCm39) D198V probably benign Het
Gsap A T 5: 21,483,108 (GRCm39) E604D probably benign Het
Il20rb A G 9: 100,343,481 (GRCm39) Y258H probably benign Het
Impg1 A T 9: 80,285,776 (GRCm39) S409R probably damaging Het
Jak3 G T 8: 72,131,425 (GRCm39) V97F possibly damaging Het
Lbhd1 T C 19: 8,861,523 (GRCm39) S52P probably damaging Het
Lman2l A G 1: 36,482,599 (GRCm39) probably benign Het
Lnpep C A 17: 17,788,625 (GRCm39) M493I probably benign Het
Mpp4 T C 1: 59,188,774 (GRCm39) D132G probably damaging Het
Nlrp1a G A 11: 71,014,378 (GRCm39) R291W probably benign Het
Or1e23 G T 11: 73,407,247 (GRCm39) Y259* probably null Het
Or4a79 T A 2: 89,551,730 (GRCm39) I242F probably benign Het
Or4b13 C T 2: 90,082,441 (GRCm39) R297Q possibly damaging Het
Or4f15 G A 2: 111,814,308 (GRCm39) A37V probably benign Het
Or4n4b T A 14: 50,536,656 (GRCm39) I37F probably damaging Het
Orc5 A G 5: 22,738,787 (GRCm39) V158A probably benign Het
Pate8 C A 9: 36,493,854 (GRCm39) W26C unknown Het
Pcdhga3 A G 18: 37,808,674 (GRCm39) N376D probably damaging Het
Ptprr T A 10: 116,072,659 (GRCm39) I207N probably damaging Het
Recql5 A G 11: 115,785,402 (GRCm39) V698A probably benign Het
Rnf212 A T 5: 108,877,826 (GRCm39) M222K probably benign Het
Rsph6a A G 7: 18,788,820 (GRCm39) S51G probably benign Het
Smap2 T C 4: 120,839,365 (GRCm39) K121E probably damaging Het
Syt11 A T 3: 88,655,296 (GRCm39) V335D possibly damaging Het
Terb1 A T 8: 105,215,222 (GRCm39) C251* probably null Het
Ttbk2 T C 2: 120,576,265 (GRCm39) N904S possibly damaging Het
Vmn1r119 T A 7: 20,745,714 (GRCm39) I223F probably damaging Het
Vmn1r66 T C 7: 10,008,683 (GRCm39) R117G possibly damaging Het
Zfp106 T C 2: 120,362,113 (GRCm39) D1025G probably 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
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
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
Predicted Primers PCR Primer
(F):5'- AGAGTACCTGTTGCCTCACC -3'
(R):5'- GATTTTGGGTTGAGAAGAACTGAGC -3'

Sequencing Primer
(F):5'- CTCACCTTTTGAAGCAATGAGC -3'
(R):5'- TTAACCAATTTCACCTCTGACATG -3'
Posted On 2019-05-13