Incidental Mutation 'IGL01459:Tmprss7'
ID 87944
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmprss7
Ensembl Gene ENSMUSG00000033177
Gene Name transmembrane serine protease 7
Synonyms B230219I23Rik, LOC385645, matriptase-3
Accession Numbers
Essential gene? Probably non essential (E-score: 0.090) question?
Stock # IGL01459
Quality Score
Status
Chromosome 16
Chromosomal Location 45476678-45514021 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 45483706 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 556 (I556N)
Ref Sequence ENSEMBL: ENSMUSP00000110209 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114562]
AlphaFold Q8BIK6
Predicted Effect probably benign
Transcript: ENSMUST00000114562
AA Change: I556N

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000110209
Gene: ENSMUSG00000033177
AA Change: I556N

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169421
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170951
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp2a2 A G 5: 122,607,715 (GRCm39) S265P probably benign Het
Brwd1 A G 16: 95,848,620 (GRCm39) F520L probably damaging Het
Cdh5 A T 8: 104,864,449 (GRCm39) D470V probably damaging Het
Cdr2l A G 11: 115,281,378 (GRCm39) R41G probably damaging Het
Csrnp1 C T 9: 119,802,024 (GRCm39) C345Y probably damaging Het
Dscaml1 T A 9: 45,653,981 (GRCm39) Y1419* probably null Het
Entpd3 T C 9: 120,391,007 (GRCm39) S420P probably damaging Het
Epb41 A G 4: 131,691,439 (GRCm39) probably benign Het
Erg A G 16: 95,162,141 (GRCm39) S322P probably damaging Het
Fndc3b T A 3: 27,515,889 (GRCm39) H639L probably benign Het
Grwd1 C T 7: 45,479,834 (GRCm39) probably null Het
Kbtbd8 A G 6: 95,099,789 (GRCm39) N356D probably benign Het
Kif15 A G 9: 122,804,820 (GRCm39) E189G probably damaging Het
Kif2b T C 11: 91,467,849 (GRCm39) K145E possibly damaging Het
Kif5c A G 2: 49,625,569 (GRCm39) D613G probably benign Het
Lipe T G 7: 25,082,967 (GRCm39) Q457P probably damaging Het
Lrp1b A T 2: 40,750,726 (GRCm39) I2946N probably damaging Het
Mtf2 C T 5: 108,228,809 (GRCm39) P42S probably damaging Het
Neb A G 2: 52,066,804 (GRCm39) S5886P probably damaging Het
Nmu A G 5: 76,506,196 (GRCm39) probably null Het
Nup153 T C 13: 46,866,402 (GRCm39) E214G possibly damaging Het
Or14c44 A C 7: 86,061,759 (GRCm39) N104T probably damaging Het
Or6c66b G A 10: 129,376,410 (GRCm39) M1I probably null Het
Paqr3 T C 5: 97,243,796 (GRCm39) D306G probably benign Het
Plxna2 A G 1: 194,446,878 (GRCm39) D796G probably benign Het
Prkra A G 2: 76,460,780 (GRCm39) L306S probably damaging Het
Psg20 T A 7: 18,416,638 (GRCm39) E159D probably damaging Het
Ptchd3 G T 11: 121,721,246 (GRCm39) V40L probably benign Het
Rfx5 T C 3: 94,865,086 (GRCm39) probably benign Het
Rimbp2 A G 5: 128,865,275 (GRCm39) probably null Het
Slc22a4 C A 11: 53,877,303 (GRCm39) probably null Het
Tars1 A G 15: 11,391,940 (GRCm39) V265A possibly damaging Het
Tatdn2 T A 6: 113,686,992 (GRCm39) probably null Het
Tenm4 C T 7: 96,378,592 (GRCm39) P399L probably damaging Het
Tmem135 A T 7: 88,800,646 (GRCm39) D325E probably damaging Het
Tom1l2 C T 11: 60,171,095 (GRCm39) G23S probably damaging Het
Ubr2 A G 17: 47,241,435 (GRCm39) probably benign Het
Vmn1r197 T C 13: 22,512,241 (GRCm39) I54T probably benign Het
Vmn2r116 T C 17: 23,603,903 (GRCm39) C43R probably damaging Het
Vps33a A G 5: 123,673,371 (GRCm39) L405P probably benign Het
Zfp473 C T 7: 44,388,987 (GRCm39) D45N probably damaging 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
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
R7222:Tmprss7 UTSW 16 45,511,256 (GRCm39) missense probably benign
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
Posted On 2013-11-18