Incidental Mutation 'IGL00730:Gsdmc4'
ID11160
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gsdmc4
Ensembl Gene ENSMUSG00000055748
Gene Namegasdermin C4
Synonyms9030605I04Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.065) question?
Stock #IGL00730
Quality Score
Status
Chromosome15
Chromosomal Location63891264-63912297 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 63897804 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Tryptophan at position 190 (R190W)
Ref Sequence ENSEMBL: ENSMUSP00000140269 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063530] [ENSMUST00000188108]
Predicted Effect probably damaging
Transcript: ENSMUST00000063530
AA Change: R190W

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000066072
Gene: ENSMUSG00000055748
AA Change: R190W

DomainStartEndE-ValueType
Pfam:Gasdermin 4 443 1.2e-162 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000188108
AA Change: R190W

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000140269
Gene: ENSMUSG00000055748
AA Change: R190W

DomainStartEndE-ValueType
Pfam:Gasdermin 4 443 3.8e-153 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 13 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933416C03Rik A C 10: 116,113,026 D198E probably benign Het
Adnp2 A T 18: 80,128,032 I1054N probably benign Het
Carf C T 1: 60,147,418 Q511* probably null Het
Dnaaf5 G T 5: 139,151,668 probably null Het
Gen1 T C 12: 11,261,067 N55D probably damaging Het
Hsd3b5 A T 3: 98,630,057 S48T probably benign Het
Lactb2 T G 1: 13,647,516 probably benign Het
Mb21d1 G A 9: 78,435,488 P344L probably damaging Het
Pdzk1 A G 3: 96,868,426 D370G probably benign Het
Qtrt1 G T 9: 21,419,549 probably null Het
Tmem63c T A 12: 87,077,206 L486Q probably benign Het
Top2b A G 14: 16,389,831 Y223C probably damaging Het
Trpm2 T C 10: 77,942,915 probably null Het
Other mutations in Gsdmc4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02301:Gsdmc4 APN 15 63895264 missense probably benign 0.00
IGL02586:Gsdmc4 APN 15 63893792 missense probably damaging 0.98
IGL02747:Gsdmc4 APN 15 63893871 missense probably benign 0.04
IGL02829:Gsdmc4 APN 15 63892648 missense probably benign 0.01
IGL03233:Gsdmc4 APN 15 63902860 missense probably damaging 1.00
R0835:Gsdmc4 UTSW 15 63893800 missense probably damaging 1.00
R0981:Gsdmc4 UTSW 15 63892073 missense probably damaging 1.00
R1946:Gsdmc4 UTSW 15 63902780 missense probably benign 0.19
R2350:Gsdmc4 UTSW 15 63893165 missense probably benign
R2967:Gsdmc4 UTSW 15 63902060 missense probably benign 0.19
R3409:Gsdmc4 UTSW 15 63892046 missense probably benign 0.09
R3410:Gsdmc4 UTSW 15 63892046 missense probably benign 0.09
R4067:Gsdmc4 UTSW 15 63893887 splice site probably null
R4840:Gsdmc4 UTSW 15 63893747 missense probably benign 0.24
R5182:Gsdmc4 UTSW 15 63893804 missense probably damaging 1.00
R5624:Gsdmc4 UTSW 15 63892654 missense possibly damaging 0.91
R5910:Gsdmc4 UTSW 15 63895252 missense possibly damaging 0.77
R6533:Gsdmc4 UTSW 15 63892060 missense probably damaging 1.00
R6698:Gsdmc4 UTSW 15 63893764 missense probably benign 0.10
R7291:Gsdmc4 UTSW 15 63902840 missense possibly damaging 0.81
R7598:Gsdmc4 UTSW 15 63900386 missense probably damaging 1.00
R7691:Gsdmc4 UTSW 15 63893791 missense probably damaging 1.00
R7851:Gsdmc4 UTSW 15 63902746 nonsense probably null
R7881:Gsdmc4 UTSW 15 63897719 missense possibly damaging 0.91
R7934:Gsdmc4 UTSW 15 63902746 nonsense probably null
R7964:Gsdmc4 UTSW 15 63897719 missense possibly damaging 0.91
R8300:Gsdmc4 UTSW 15 63894941 missense probably damaging 0.97
Posted On2012-12-06