Incidental Mutation 'R7222:Tmprss7'
ID 561903
Institutional Source Beutler Lab
Gene Symbol Tmprss7
Ensembl Gene ENSMUSG00000033177
Gene Name transmembrane serine protease 7
Synonyms B230219I23Rik, LOC385645, matriptase-3
MMRRC Submission 045294-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.090) question?
Stock # R7222 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 45476678-45514021 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 45511256 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 41 (I41V)
Ref Sequence ENSEMBL: ENSMUSP00000110209 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114562]
AlphaFold Q8BIK6
Predicted Effect probably benign
Transcript: ENSMUST00000114562
AA Change: I41V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000110209
Gene: ENSMUSG00000033177
AA Change: I41V

DomainStartEndE-ValueType
low complexity region 28 55 N/A INTRINSIC
transmembrane domain 63 85 N/A INTRINSIC
Pfam:SEA 94 198 4.6e-23 PFAM
CUB 233 346 9.35e-4 SMART
Pfam:CUB 351 454 3e-7 PFAM
LDLa 469 506 5.63e-13 SMART
LDLa 510 541 5.56e-2 SMART
LDLa 544 582 8.95e-7 SMART
Tryp_SPc 591 821 7.17e-85 SMART
Meta Mutation Damage Score 0.0674 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 98% (49/50)
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 A T 11: 110,082,519 (GRCm39) N1151K probably benign Het
Add3 T C 19: 53,205,277 (GRCm39) V9A unknown Het
Ankar A G 1: 72,705,514 (GRCm39) I832T probably damaging Het
Arhgef10l C A 4: 140,248,580 (GRCm39) W785L probably damaging Het
Atp7b G A 8: 22,512,394 (GRCm39) Q490* probably null Het
Chrna5 A G 9: 54,905,347 (GRCm39) D53G probably benign Het
Clip1 T A 5: 123,749,904 (GRCm39) N993I probably damaging Het
Cyp3a59 A T 5: 146,033,385 (GRCm39) probably null Het
Dnah3 T A 7: 119,670,746 (GRCm39) N651Y probably benign Het
Dop1a T C 9: 86,404,929 (GRCm39) probably null Het
Eva1c AGGGTGTCCTGTACGAAGGACTTCCGGG AGGG 16: 90,701,072 (GRCm39) probably benign Het
Flg T A 3: 93,195,621 (GRCm39) S74T unknown Het
Fras1 T C 5: 96,784,045 (GRCm39) Y850H probably damaging Het
Fras1 A T 5: 96,784,668 (GRCm39) T884S probably benign Het
Fsip2 A G 2: 82,814,015 (GRCm39) T3445A probably benign Het
Herc1 C A 9: 66,374,781 (GRCm39) P3237H probably damaging Het
Ifi35 A G 11: 101,348,341 (GRCm39) N123S probably benign Het
Igkv1-117 A T 6: 68,098,733 (GRCm39) D94V probably damaging Het
Kif1b T C 4: 149,309,614 (GRCm39) D764G probably damaging Het
Lztr1 A G 16: 17,341,996 (GRCm39) E657G possibly damaging Het
Mmd2 G T 5: 142,553,682 (GRCm39) L160I probably benign Het
Muc2 A T 7: 141,290,758 (GRCm39) T15S Het
Muc6 T A 7: 141,214,428 (GRCm39) H2835L unknown Het
Myo1h G A 5: 114,493,322 (GRCm39) probably null Het
Or10v5 C A 19: 11,806,021 (GRCm39) R123L probably damaging Het
Or51ag1 A G 7: 103,155,664 (GRCm39) V163A possibly damaging Het
Or52n4 T C 7: 104,293,937 (GRCm39) D214G probably damaging Het
Or5d43 T A 2: 88,104,809 (GRCm39) M195L probably benign Het
Or5p72 A G 7: 108,021,844 (GRCm39) D22G probably benign Het
Or6c219 A G 10: 129,781,758 (GRCm39) Y58H probably damaging Het
Or7g32 A T 9: 19,388,763 (GRCm39) V261E probably damaging Het
Osbpl7 A G 11: 96,951,364 (GRCm39) T684A probably damaging Het
P2ry14 T C 3: 59,022,803 (GRCm39) K219R probably benign Het
Pde4d A T 13: 109,894,113 (GRCm39) H156L probably damaging Het
Polq G T 16: 36,906,995 (GRCm39) E2319* probably null Het
Ranbp3 T G 17: 57,017,211 (GRCm39) V409G probably damaging Het
Sart3 T C 5: 113,884,717 (GRCm39) D629G probably benign Het
Selenon T A 4: 134,275,288 (GRCm39) T137S possibly damaging Het
Setd2 T A 9: 110,380,530 (GRCm39) D55E Het
Slamf8 G A 1: 172,411,775 (GRCm39) T240I possibly damaging Het
Slc39a10 A G 1: 46,858,452 (GRCm39) L615P possibly damaging Het
Speer1e T A 5: 11,233,080 (GRCm39) N14K probably damaging Het
Tbce T C 13: 14,172,735 (GRCm39) D505G probably damaging Het
Tenm3 C T 8: 48,754,004 (GRCm39) G800R probably damaging Het
Terf2ip T C 8: 112,738,547 (GRCm39) V145A possibly damaging Het
Traj49 A T 14: 54,406,160 (GRCm39) N6I Het
Trim30a T C 7: 104,070,639 (GRCm39) probably null Het
Ubr4 T A 4: 139,190,684 (GRCm39) S905T unknown Het
Unc93a2 A G 17: 7,643,866 (GRCm39) S148P probably damaging Het
Zfp948 T A 17: 21,808,102 (GRCm39) H431Q probably damaging Het
Zfyve1 A G 12: 83,601,779 (GRCm39) F525L probably benign Het
Other mutations in Tmprss7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00157:Tmprss7 APN 16 45,483,731 (GRCm39) missense probably benign
IGL00985:Tmprss7 APN 16 45,482,685 (GRCm39) missense probably damaging 1.00
IGL01115:Tmprss7 APN 16 45,481,152 (GRCm39) missense probably damaging 1.00
IGL01296:Tmprss7 APN 16 45,504,937 (GRCm39) missense probably damaging 0.98
IGL01298:Tmprss7 APN 16 45,484,538 (GRCm39) missense probably benign 0.00
IGL01459:Tmprss7 APN 16 45,483,706 (GRCm39) missense probably benign 0.00
IGL01785:Tmprss7 APN 16 45,500,997 (GRCm39) missense probably damaging 1.00
IGL02313:Tmprss7 APN 16 45,501,956 (GRCm39) missense probably damaging 1.00
IGL02893:Tmprss7 APN 16 45,489,891 (GRCm39) missense possibly damaging 0.65
IGL02940:Tmprss7 APN 16 45,476,818 (GRCm39) missense probably damaging 1.00
IGL03291:Tmprss7 APN 16 45,501,111 (GRCm39) missense probably benign
amalgum UTSW 16 45,503,873 (GRCm39) missense probably benign 0.15
fusion UTSW 16 45,511,123 (GRCm39) missense probably damaging 1.00
steely UTSW 16 45,487,969 (GRCm39) nonsense probably null
P0019:Tmprss7 UTSW 16 45,501,096 (GRCm39) missense probably benign
R0051:Tmprss7 UTSW 16 45,494,302 (GRCm39) missense probably damaging 1.00
R0051:Tmprss7 UTSW 16 45,494,302 (GRCm39) missense probably damaging 1.00
R0092:Tmprss7 UTSW 16 45,487,959 (GRCm39) missense probably damaging 1.00
R0178:Tmprss7 UTSW 16 45,511,206 (GRCm39) missense probably damaging 1.00
R0219:Tmprss7 UTSW 16 45,476,820 (GRCm39) missense probably damaging 1.00
R0332:Tmprss7 UTSW 16 45,501,001 (GRCm39) missense probably benign 0.01
R0607:Tmprss7 UTSW 16 45,489,914 (GRCm39) missense probably damaging 0.97
R0669:Tmprss7 UTSW 16 45,498,325 (GRCm39) nonsense probably null
R0783:Tmprss7 UTSW 16 45,487,969 (GRCm39) nonsense probably null
R1447:Tmprss7 UTSW 16 45,501,033 (GRCm39) missense probably benign
R1538:Tmprss7 UTSW 16 45,499,753 (GRCm39) missense probably benign 0.44
R1564:Tmprss7 UTSW 16 45,482,516 (GRCm39) critical splice donor site probably null
R1912:Tmprss7 UTSW 16 45,476,911 (GRCm39) nonsense probably null
R1932:Tmprss7 UTSW 16 45,504,956 (GRCm39) nonsense probably null
R2257:Tmprss7 UTSW 16 45,506,696 (GRCm39) missense possibly damaging 0.47
R3840:Tmprss7 UTSW 16 45,481,195 (GRCm39) nonsense probably null
R4232:Tmprss7 UTSW 16 45,476,936 (GRCm39) missense probably damaging 1.00
R4332:Tmprss7 UTSW 16 45,506,690 (GRCm39) missense probably benign 0.00
R4685:Tmprss7 UTSW 16 45,499,711 (GRCm39) missense probably benign
R4712:Tmprss7 UTSW 16 45,511,123 (GRCm39) missense probably damaging 1.00
R4822:Tmprss7 UTSW 16 45,483,679 (GRCm39) missense probably damaging 1.00
R5368:Tmprss7 UTSW 16 45,481,252 (GRCm39) missense probably damaging 1.00
R5386:Tmprss7 UTSW 16 45,489,891 (GRCm39) missense possibly damaging 0.65
R5468:Tmprss7 UTSW 16 45,476,811 (GRCm39) missense probably damaging 1.00
R5526:Tmprss7 UTSW 16 45,481,267 (GRCm39) missense probably damaging 1.00
R5719:Tmprss7 UTSW 16 45,506,793 (GRCm39) missense probably damaging 0.99
R6149:Tmprss7 UTSW 16 45,494,268 (GRCm39) nonsense probably null
R6235:Tmprss7 UTSW 16 45,478,485 (GRCm39) missense probably benign 0.03
R6358:Tmprss7 UTSW 16 45,489,936 (GRCm39) missense probably benign 0.00
R6645:Tmprss7 UTSW 16 45,511,326 (GRCm39) missense possibly damaging 0.90
R7187:Tmprss7 UTSW 16 45,498,317 (GRCm39) missense possibly damaging 0.50
R7634:Tmprss7 UTSW 16 45,483,637 (GRCm39) missense probably benign 0.00
R7747:Tmprss7 UTSW 16 45,503,873 (GRCm39) missense probably benign 0.15
R7776:Tmprss7 UTSW 16 45,488,014 (GRCm39) missense probably benign 0.03
R7777:Tmprss7 UTSW 16 45,480,963 (GRCm39) splice site probably null
R8222:Tmprss7 UTSW 16 45,478,461 (GRCm39) missense probably damaging 0.99
R8983:Tmprss7 UTSW 16 45,481,263 (GRCm39) missense probably damaging 0.98
R9472:Tmprss7 UTSW 16 45,501,052 (GRCm39) missense probably benign 0.09
R9485:Tmprss7 UTSW 16 45,498,282 (GRCm39) nonsense probably null
R9502:Tmprss7 UTSW 16 45,484,555 (GRCm39) missense probably damaging 1.00
R9516:Tmprss7 UTSW 16 45,484,564 (GRCm39) missense probably benign 0.00
T0975:Tmprss7 UTSW 16 45,501,096 (GRCm39) missense probably benign
Z1176:Tmprss7 UTSW 16 45,482,619 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCAGAGACTAGTTATGCCTACTG -3'
(R):5'- ACTGGTGTCTCCTGCATGAG -3'

Sequencing Primer
(F):5'- CCTACTGATTTAGGCAGGACTTG -3'
(R):5'- GAGTCACTTCACTTATGCTTGGGATC -3'
Posted On 2019-06-26