Incidental Mutation 'R1544:Tmprss11d'
ID 171999
Institutional Source Beutler Lab
Gene Symbol Tmprss11d
Ensembl Gene ENSMUSG00000061259
Gene Name transmembrane protease, serine 11d
Synonyms AsP
MMRRC Submission 039583-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R1544 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 86450713-86521246 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 86486658 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 77 (S77R)
Ref Sequence ENSEMBL: ENSMUSP00000031175 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031175]
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: S77R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031175
Gene: ENSMUSG00000061259
AA Change: S77R

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
SEA 41 164 4.92e-2 SMART
Tryp_SPc 185 411 1.29e-86 SMART
Meta Mutation Damage Score 0.1681 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 94.7%
  • 20x: 86.9%
Validation Efficiency 99% (114/115)
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: 111 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406B18Rik A G 7: 43,147,543 (GRCm39) I182T possibly damaging Het
4933406P04Rik A G 10: 20,187,105 (GRCm39) probably benign Het
A730018C14Rik A G 12: 112,381,924 (GRCm39) noncoding transcript Het
Aacs A T 5: 125,593,394 (GRCm39) I666F possibly damaging Het
Abcb9 C T 5: 124,221,694 (GRCm39) V227I probably benign Het
Abcd3 T C 3: 121,578,122 (GRCm39) Q168R probably benign Het
Adamts4 A G 1: 171,080,311 (GRCm39) Q288R probably benign Het
Atad2 G A 15: 57,966,760 (GRCm39) A611V probably damaging Het
Aup1 T C 6: 83,032,187 (GRCm39) V118A possibly damaging Het
Bend7 T A 2: 4,768,122 (GRCm39) probably benign Het
Brd4 A G 17: 32,417,646 (GRCm39) probably benign Het
C4b C A 17: 34,957,941 (GRCm39) R580L probably benign Het
Cct8 G T 16: 87,288,342 (GRCm39) probably benign Het
Cfhr4 A T 1: 139,664,608 (GRCm39) C484S probably damaging Het
Cilp T C 9: 65,183,127 (GRCm39) Y344H probably benign Het
Clic6 A T 16: 92,288,961 (GRCm39) probably benign Het
Colgalt2 T C 1: 152,360,703 (GRCm39) S247P probably damaging Het
Csf2rb G T 15: 78,224,955 (GRCm39) A212S probably benign Het
Csmd3 A C 15: 47,475,294 (GRCm39) probably null Het
Cyp26c1 A G 19: 37,679,393 (GRCm39) D366G probably benign Het
Dhx33 A G 11: 70,890,354 (GRCm39) S222P probably damaging Het
Dhx40 T A 11: 86,697,379 (GRCm39) I63F possibly damaging Het
Dipk2b A C X: 18,286,701 (GRCm39) L285V possibly damaging Het
Dlgap2 T A 8: 14,879,861 (GRCm39) probably null Het
Dnah7b T A 1: 46,105,957 (GRCm39) D20E unknown Het
Dnase2b C A 3: 146,290,312 (GRCm39) A220S probably benign Het
Dock10 T C 1: 80,570,352 (GRCm39) E362G probably benign Het
Ect2l C T 10: 18,044,182 (GRCm39) V226I probably benign Het
Epha10 C A 4: 124,779,389 (GRCm39) N78K probably damaging Het
Epha3 A G 16: 63,593,416 (GRCm39) V224A probably damaging Het
Fcgr4 C A 1: 170,847,523 (GRCm39) D40E probably damaging Het
Fer1l4 T C 2: 155,887,553 (GRCm39) M548V probably benign Het
Flii C T 11: 60,610,518 (GRCm39) probably null Het
Flnc A T 6: 29,444,079 (GRCm39) Y631F probably benign Het
Gm6871 A C 7: 41,195,514 (GRCm39) probably null Het
Gtf2ird1 A T 5: 134,387,772 (GRCm39) S1028T possibly damaging Het
Hycc1 A T 5: 24,170,139 (GRCm39) D403E probably benign Het
Hydin A G 8: 111,301,486 (GRCm39) H3739R probably benign Het
Iqcg A T 16: 32,865,895 (GRCm39) N149K probably benign Het
Iqgap3 A G 3: 88,006,200 (GRCm39) D537G probably benign Het
Itih2 T G 2: 10,110,025 (GRCm39) D576A probably benign Het
Kcmf1 T C 6: 72,825,212 (GRCm39) T243A probably benign Het
Kif1a A G 1: 93,002,670 (GRCm39) probably benign Het
Klf10 C T 15: 38,297,030 (GRCm39) G337S probably damaging Het
Krt31 T C 11: 99,938,699 (GRCm39) N298S possibly damaging Het
Lmnb1 A G 18: 56,882,823 (GRCm39) E556G probably benign Het
Mael A T 1: 166,029,859 (GRCm39) S354T probably benign Het
Mast3 T C 8: 71,238,816 (GRCm39) D496G probably damaging Het
Med12l A G 3: 59,172,661 (GRCm39) T1806A possibly damaging Het
Mms19 A G 19: 41,944,260 (GRCm39) probably null Het
Moap1 A T 12: 102,709,504 (GRCm39) M15K possibly damaging Het
Mpv17l G T 16: 13,764,683 (GRCm39) W70L probably damaging Het
Muc4 G C 16: 32,753,919 (GRCm38) R1265P probably benign Het
Myo7b T C 18: 32,127,962 (GRCm39) I577V probably benign Het
Myo9b T A 8: 71,743,620 (GRCm39) L227Q probably damaging Het
Myom2 T C 8: 15,154,059 (GRCm39) probably benign Het
Naip6 C A 13: 100,452,983 (GRCm39) R26L probably benign Het
Nbea T C 3: 55,966,248 (GRCm39) T405A probably damaging Het
Nrp2 T A 1: 62,802,063 (GRCm39) I502N probably damaging Het
Nt5el A T 13: 105,246,129 (GRCm39) H230L probably benign Het
Nufip2 G A 11: 77,582,733 (GRCm39) E216K possibly damaging Het
Oaf A G 9: 43,133,930 (GRCm39) Y264H probably damaging Het
Or51a42 A G 7: 103,708,431 (GRCm39) V126A probably damaging Het
Or5m10 T C 2: 85,717,615 (GRCm39) L157P probably damaging Het
Or6c217 A T 10: 129,738,293 (GRCm39) C95* probably null Het
Pax1 T C 2: 147,210,321 (GRCm39) V352A probably damaging Het
Pkd1l2 TGGG TGG 8: 117,764,974 (GRCm39) probably null Het
Plxna3 G A X: 73,383,772 (GRCm39) probably null Het
Pnpla3 T C 15: 84,065,247 (GRCm39) V347A probably benign Het
Ppl T A 16: 4,920,461 (GRCm39) K350* probably null Het
Pramel28 T C 4: 143,692,632 (GRCm39) D123G probably benign Het
Prb1a T A 6: 132,186,424 (GRCm39) probably null Het
Prb1a C A 6: 132,186,423 (GRCm39) probably null Het
Ptpn11 G A 5: 121,275,574 (GRCm39) H540Y probably benign Het
Ptprz1 C A 6: 23,000,747 (GRCm39) H946N possibly damaging Het
Pwwp4a G T X: 72,171,261 (GRCm39) G218C probably damaging Het
Rad51b A G 12: 79,349,317 (GRCm39) E51G possibly damaging Het
Rin2 T C 2: 145,700,366 (GRCm39) V181A probably damaging Het
Rnf157 T A 11: 116,245,188 (GRCm39) probably null Het
Rnf207 A G 4: 152,398,328 (GRCm39) probably benign Het
Ror1 A T 4: 100,299,183 (GRCm39) K852M probably damaging Het
Sbp T A 17: 24,164,043 (GRCm39) I102K probably benign Het
Scaf8 T C 17: 3,195,429 (GRCm39) I33T probably damaging Het
Scn5a C T 9: 119,315,699 (GRCm39) V1670I probably damaging Het
Serhl C T 15: 82,989,877 (GRCm39) T42M probably damaging Het
Sin3a A G 9: 57,011,281 (GRCm39) probably benign Het
Slc12a2 A G 18: 58,012,374 (GRCm39) S166G probably benign Het
Slc15a4 G A 5: 127,680,832 (GRCm39) H396Y probably benign Het
Slc2a7 A T 4: 150,239,143 (GRCm39) N123Y probably damaging Het
Smpd3 G A 8: 106,992,199 (GRCm39) T118M possibly damaging Het
Spns2 A T 11: 72,347,193 (GRCm39) I427N probably benign Het
Ssmem1 T A 6: 30,519,650 (GRCm39) S112T probably damaging Het
Stard10 A T 7: 100,993,233 (GRCm39) D190V probably damaging Het
Stil A T 4: 114,881,049 (GRCm39) K531M probably damaging Het
Strc T C 2: 121,203,219 (GRCm39) probably null Het
Svil T A 18: 5,046,817 (GRCm39) I21N possibly damaging Het
Syt11 T C 3: 88,656,110 (GRCm39) M14V probably benign Het
Tasor2 A T 13: 3,640,413 (GRCm39) H241Q possibly damaging Het
Tg A T 15: 66,577,081 (GRCm39) Q1468L probably benign Het
Tjp1 A G 7: 64,952,669 (GRCm39) V1555A probably benign Het
Tsnaxip1 A G 8: 106,554,383 (GRCm39) probably benign Het
Tyr C A 7: 87,141,914 (GRCm39) L138F probably damaging Het
Ubash3b A G 9: 40,927,901 (GRCm39) V469A probably damaging Het
Ugt8a T C 3: 125,709,098 (GRCm39) Y4C probably benign Het
Vmn1r201 A T 13: 22,658,968 (GRCm39) T61S probably benign Het
Vmn1r204 A G 13: 22,740,465 (GRCm39) H32R probably benign Het
Vmn1r228 T A 17: 20,997,285 (GRCm39) I78L probably benign Het
Wdr90 T C 17: 26,068,284 (GRCm39) D1348G possibly damaging Het
Zfp563 T A 17: 33,324,187 (GRCm39) C261S probably benign Het
Zfp809 T A 9: 22,146,395 (GRCm39) L28Q probably damaging Het
Znrf3 T A 11: 5,239,066 (GRCm39) Q99L 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
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
Predicted Primers PCR Primer
(F):5'- TGAGGCATGTGGGCACAGATCTA -3'
(R):5'- GGAGGGTGGTGCTTTGACGttt -3'

Sequencing Primer
(F):5'- catagaggagatgtagttgggcaag -3'
(R):5'- GTGGTGCTTTGACGttttaatatac -3'
Posted On 2014-04-13