Incidental Mutation 'IGL00730:Gsdmc4'
ID 11160
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gsdmc4
Ensembl Gene ENSMUSG00000055748
Gene Name gasdermin C4
Synonyms 9030605I04Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.076) question?
Stock # IGL00730
Quality Score
Status
Chromosome 15
Chromosomal Location 63891264-63912297 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 63897804 bp (GRCm38)
Zygosity Heterozygous
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]
AlphaFold Q3TR54
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
R8300:Gsdmc4 UTSW 15 63894941 missense probably damaging 0.97
R8512:Gsdmc4 UTSW 15 63891959 missense probably damaging 1.00
R9041:Gsdmc4 UTSW 15 63902737 missense probably benign 0.10
R9357:Gsdmc4 UTSW 15 63900347 missense probably benign 0.06
R9680:Gsdmc4 UTSW 15 63902857 missense possibly damaging 0.61
Posted On 2012-12-06