Incidental Mutation 'IGL02747:Gsdmc4'
ID 306069
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: 0.087) question?
Stock # IGL02747
Quality Score
Status
Chromosome 15
Chromosomal Location 63891264-63912297 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 63893871 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 276 (M276I)
Ref Sequence ENSEMBL: ENSMUSP00000140269 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063530] [ENSMUST00000188108]
AlphaFold Q3TR54
Predicted Effect probably benign
Transcript: ENSMUST00000063530
AA Change: M276I

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000066072
Gene: ENSMUSG00000055748
AA Change: M276I

DomainStartEndE-ValueType
Pfam:Gasdermin 4 443 1.2e-162 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177709
SMART Domains Protein: ENSMUSP00000137240
Gene: ENSMUSG00000093867

DomainStartEndE-ValueType
Pfam:Gasdermin 4 161 2.1e-57 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185431
Predicted Effect probably benign
Transcript: ENSMUST00000188108
AA Change: M276I

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000140269
Gene: ENSMUSG00000055748
AA Change: M276I

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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,373,282 L3373* probably null Het
Ap1s3 T C 1: 79,623,692 Y94C probably damaging Het
BC048403 A C 10: 121,745,550 Q152P possibly damaging Het
Dbx2 T C 15: 95,632,439 T216A probably benign Het
Dsg4 A G 18: 20,446,938 R67G probably damaging Het
Eng G A 2: 32,672,958 probably null Het
Gm28042 T A 2: 120,031,394 I206N probably damaging Het
Itih2 A G 2: 10,097,945 S793P probably benign Het
Kcnj13 T C 1: 87,389,365 N9D probably benign Het
Krt78 T A 15: 101,950,384 probably benign Het
Megf10 A G 18: 57,290,493 K985E probably benign Het
Naa25 A G 5: 121,414,605 probably benign Het
Olfr918 T C 9: 38,673,084 Y133C probably benign Het
Plekhm2 T C 4: 141,634,272 T307A possibly damaging Het
Ppp1cc A G 5: 122,174,073 K301E probably benign Het
Ralgds T C 2: 28,548,110 probably benign Het
Rccd1 A T 7: 80,320,490 D126E probably benign Het
Reps1 T C 10: 18,123,600 S712P probably damaging Het
Rnf103 T A 6: 71,509,177 I264N probably damaging Het
Rpap1 A G 2: 119,774,128 I433T probably damaging Het
Ryr2 T G 13: 11,655,677 N3478H probably damaging Het
Sox30 A G 11: 45,980,945 D209G probably benign Het
Sox6 A G 7: 115,489,746 F628S probably damaging Het
Tas1r3 C T 4: 155,860,460 G768D possibly damaging Het
Tesk2 T C 4: 116,802,879 V398A probably benign Het
Tmem135 A T 7: 89,144,670 I388N probably damaging Het
Tpgs2 A G 18: 25,139,145 probably benign Het
Vmn2r120 G A 17: 57,524,719 H357Y probably benign Het
Other mutations in Gsdmc4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00730:Gsdmc4 APN 15 63897804 missense probably damaging 1.00
IGL02301:Gsdmc4 APN 15 63895264 missense probably benign 0.00
IGL02586:Gsdmc4 APN 15 63893792 missense probably damaging 0.98
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 2015-04-16