Incidental Mutation 'IGL01948:Gsdmc'
ID180979
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gsdmc
Ensembl Gene ENSMUSG00000079025
Gene Namegasdermin C
SynonymsMlze, Gsdmc1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.060) question?
Stock #IGL01948
Quality Score
Status
Chromosome15
Chromosomal Location63775968-63808759 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 63778581 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 308 (D308G)
Ref Sequence ENSEMBL: ENSMUSP00000133683 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110125] [ENSMUST00000173503]
Predicted Effect probably damaging
Transcript: ENSMUST00000110125
AA Change: D317G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000105752
Gene: ENSMUSG00000079025
AA Change: D317G

DomainStartEndE-ValueType
Pfam:Gasdermin 4 444 6.2e-170 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000173503
AA Change: D308G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133683
Gene: ENSMUSG00000079025
AA Change: D308G

DomainStartEndE-ValueType
Pfam:Gasdermin 4 435 9.6e-157 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700109H08Rik T C 5: 3,577,326 F101L probably damaging Het
Cacna1d T C 14: 30,124,794 T552A probably damaging Het
Ccdc81 T C 7: 89,875,855 D506G possibly damaging Het
Fam186b T C 15: 99,280,446 H333R probably benign Het
Fam222b T C 11: 78,154,339 V242A probably damaging Het
Gabra2 A G 5: 70,961,885 F425L probably damaging Het
Gm10717 A T 9: 3,025,819 T135S probably damaging Het
Gm8104 A T 14: 43,109,150 M120L probably benign Het
Hook3 T A 8: 26,059,312 E168V possibly damaging Het
Ighv5-17 T A 12: 113,859,426 E25V probably damaging Het
Imp4 T G 1: 34,444,275 probably benign Het
Ms4a5 A C 19: 11,279,353 M60R probably damaging Het
Pisd C A 5: 32,739,132 probably null Het
Prokr2 G T 2: 132,373,683 A286E probably damaging Het
Ranbp9 T A 13: 43,422,553 Q226L probably damaging Het
Scara3 A G 14: 65,930,812 V452A probably damaging Het
Tmem38b C T 4: 53,850,530 P171S probably damaging Het
Zdhhc17 G T 10: 110,946,276 T519K possibly damaging Het
Other mutations in Gsdmc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00502:Gsdmc APN 15 63804421 missense probably benign 0.41
IGL00791:Gsdmc APN 15 63804435 missense possibly damaging 0.85
IGL01889:Gsdmc APN 15 63780003 missense possibly damaging 0.89
IGL01917:Gsdmc APN 15 63778585 missense probably benign
IGL02391:Gsdmc APN 15 63803579 missense probably damaging 0.99
IGL02479:Gsdmc APN 15 63777975 missense possibly damaging 0.87
IGL02551:Gsdmc APN 15 63801933 missense probably benign 0.00
R0115:Gsdmc UTSW 15 63803637 missense probably damaging 0.99
R1523:Gsdmc UTSW 15 63803630 missense probably damaging 0.99
R1655:Gsdmc UTSW 15 63780043 missense probably benign 0.42
R1990:Gsdmc UTSW 15 63801899 missense probably benign 0.12
R1991:Gsdmc UTSW 15 63801899 missense probably benign 0.12
R2267:Gsdmc UTSW 15 63776798 missense probably benign 0.12
R2882:Gsdmc UTSW 15 63779795 missense probably benign 0.24
R2943:Gsdmc UTSW 15 63803652 missense possibly damaging 0.91
R4110:Gsdmc UTSW 15 63780027 missense probably benign 0.08
R4712:Gsdmc UTSW 15 63779537 missense probably benign 0.01
R4963:Gsdmc UTSW 15 63804380 critical splice donor site probably null
R4997:Gsdmc UTSW 15 63776780 missense probably damaging 1.00
R5032:Gsdmc UTSW 15 63802033 missense possibly damaging 0.63
R5276:Gsdmc UTSW 15 63801957 missense probably benign 0.25
R5346:Gsdmc UTSW 15 63776886 missense probably damaging 1.00
R5963:Gsdmc UTSW 15 63780116 splice site probably null
R5965:Gsdmc UTSW 15 63804598 critical splice acceptor site probably null
R6872:Gsdmc UTSW 15 63778707 missense possibly damaging 0.79
R7035:Gsdmc UTSW 15 63778720 splice site probably null
R7408:Gsdmc UTSW 15 63804466 missense probably benign
R7719:Gsdmc UTSW 15 63778964 splice site probably null
R7862:Gsdmc UTSW 15 63777996 missense possibly damaging 0.52
Posted On2014-05-07