Incidental Mutation 'IGL01785:Tmprss7'
ID153774
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmprss7
Ensembl Gene ENSMUSG00000033177
Gene Nametransmembrane serine protease 7
Synonymsmatriptase-3, B230219I23Rik, LOC385645
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.137) question?
Stock #IGL01785
Quality Score
Status
Chromosome16
Chromosomal Location45656315-45693658 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 45680634 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Aspartic acid at position 268 (G268D)
Ref Sequence ENSEMBL: ENSMUSP00000110209 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114562]
Predicted Effect probably damaging
Transcript: ENSMUST00000114562
AA Change: G268D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110209
Gene: ENSMUSG00000033177
AA Change: G268D

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000178150
Predicted Effect noncoding transcript
Transcript: ENSMUST00000178323
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 T A 5: 8,915,058 Y309* probably null Het
Abhd18 G A 3: 40,905,904 R42Q probably damaging Het
Ano3 T A 2: 110,682,715 Q645L probably damaging Het
Clasp1 T A 1: 118,497,736 L272Q possibly damaging Het
Clec1b A G 6: 129,403,562 D115G probably damaging Het
Clec2e A T 6: 129,093,401 probably benign Het
Corin T C 5: 72,339,876 N532S probably damaging Het
Csn1s2b A G 5: 87,809,913 K2R possibly damaging Het
Mcm8 A G 2: 132,827,948 D314G probably benign Het
Mga T A 2: 119,902,912 D80E probably damaging Het
Msh4 A G 3: 153,857,507 L744P probably damaging Het
Myof A T 19: 37,980,423 L348* probably null Het
Olfr1348 T C 7: 6,501,900 I109V probably benign Het
Olfr530 T A 7: 140,373,125 M162L probably benign Het
Otud3 T C 4: 138,896,897 D278G probably benign Het
Pdpr C A 8: 111,129,656 H670Q probably damaging Het
Phf21b C A 15: 84,808,061 probably benign Het
Polr3a G A 14: 24,484,120 Q106* probably null Het
Ptprm G T 17: 66,685,623 N1366K probably damaging Het
Slc10a5 G A 3: 10,335,199 P134S probably benign Het
Slc30a9 A G 5: 67,346,238 probably benign Het
Stat6 T A 10: 127,657,227 V576D probably damaging Het
Tmem132d T C 5: 127,984,315 I408V probably benign Het
Tmem50a T C 4: 134,898,447 E153G probably damaging Het
Tmod4 A G 3: 95,125,618 T22A probably benign Het
Tor1a A G 2: 30,963,703 probably null Het
Ttc29 T C 8: 78,282,341 L280P probably damaging Het
Tusc5 G A 11: 76,680,466 V103I probably benign Het
Usp20 A G 2: 31,017,163 E594G probably benign Het
Vmn1r31 A C 6: 58,472,724 M3R possibly damaging Het
Other mutations in Tmprss7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00157:Tmprss7 APN 16 45663368 missense probably benign
IGL00985:Tmprss7 APN 16 45662322 missense probably damaging 1.00
IGL01115:Tmprss7 APN 16 45660789 missense probably damaging 1.00
IGL01296:Tmprss7 APN 16 45684574 missense probably damaging 0.98
IGL01298:Tmprss7 APN 16 45664175 missense probably benign 0.00
IGL01459:Tmprss7 APN 16 45663343 missense probably benign 0.00
IGL02313:Tmprss7 APN 16 45681593 missense probably damaging 1.00
IGL02893:Tmprss7 APN 16 45669528 missense possibly damaging 0.65
IGL02940:Tmprss7 APN 16 45656455 missense probably damaging 1.00
IGL03291:Tmprss7 APN 16 45680748 missense probably benign
P0019:Tmprss7 UTSW 16 45680733 missense probably benign
R0051:Tmprss7 UTSW 16 45673939 missense probably damaging 1.00
R0051:Tmprss7 UTSW 16 45673939 missense probably damaging 1.00
R0092:Tmprss7 UTSW 16 45667596 missense probably damaging 1.00
R0178:Tmprss7 UTSW 16 45690843 missense probably damaging 1.00
R0219:Tmprss7 UTSW 16 45656457 missense probably damaging 1.00
R0332:Tmprss7 UTSW 16 45680638 missense probably benign 0.01
R0607:Tmprss7 UTSW 16 45669551 missense probably damaging 0.97
R0669:Tmprss7 UTSW 16 45677962 nonsense probably null
R0783:Tmprss7 UTSW 16 45667606 nonsense probably null
R1447:Tmprss7 UTSW 16 45680670 missense probably benign
R1538:Tmprss7 UTSW 16 45679390 missense probably benign 0.44
R1564:Tmprss7 UTSW 16 45662153 critical splice donor site probably null
R1912:Tmprss7 UTSW 16 45656548 nonsense probably null
R1932:Tmprss7 UTSW 16 45684593 nonsense probably null
R2257:Tmprss7 UTSW 16 45686333 missense possibly damaging 0.47
R3840:Tmprss7 UTSW 16 45660832 nonsense probably null
R4232:Tmprss7 UTSW 16 45656573 missense probably damaging 1.00
R4332:Tmprss7 UTSW 16 45686327 missense probably benign 0.00
R4685:Tmprss7 UTSW 16 45679348 missense probably benign
R4712:Tmprss7 UTSW 16 45690760 missense probably damaging 1.00
R4822:Tmprss7 UTSW 16 45663316 missense probably damaging 1.00
R5368:Tmprss7 UTSW 16 45660889 missense probably damaging 1.00
R5386:Tmprss7 UTSW 16 45669528 missense possibly damaging 0.65
R5468:Tmprss7 UTSW 16 45656448 missense probably damaging 1.00
R5526:Tmprss7 UTSW 16 45660904 missense probably damaging 1.00
R5719:Tmprss7 UTSW 16 45686430 missense probably damaging 0.99
R6149:Tmprss7 UTSW 16 45673905 nonsense probably null
R6235:Tmprss7 UTSW 16 45658122 missense probably benign 0.03
R6358:Tmprss7 UTSW 16 45669573 missense probably benign 0.00
R6645:Tmprss7 UTSW 16 45690963 missense possibly damaging 0.90
T0975:Tmprss7 UTSW 16 45680733 missense probably benign
Posted On2014-02-04