Incidental Mutation 'IGL01917:Gsdmc'
ID179977
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: 0.053) question?
Stock #IGL01917
Quality Score
Status
Chromosome15
Chromosomal Location63775968-63808759 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 63778585 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 307 (Y307H)
Ref Sequence ENSEMBL: ENSMUSP00000133683 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110125] [ENSMUST00000173503]
Predicted Effect probably benign
Transcript: ENSMUST00000110125
AA Change: Y316H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000105752
Gene: ENSMUSG00000079025
AA Change: Y316H

DomainStartEndE-ValueType
Pfam:Gasdermin 4 444 6.2e-170 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000173503
AA Change: Y307H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000133683
Gene: ENSMUSG00000079025
AA Change: Y307H

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: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abt1 A T 13: 23,423,789 M15K unknown Het
Adal A G 2: 121,142,554 S31G possibly damaging Het
C2cd5 T C 6: 143,072,596 Y300C probably benign Het
Chia1 T A 3: 106,128,220 V184E probably damaging Het
Fat4 T A 3: 38,889,730 V924D possibly damaging Het
Fstl5 A T 3: 76,707,846 H738L probably damaging Het
Gimap4 T C 6: 48,690,920 M75T probably benign Het
Gm10238 A T 15: 75,237,712 noncoding transcript Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Gm5862 A C 5: 26,022,771 W41G probably benign Het
Iqub A G 6: 24,479,319 L408P probably damaging Het
Lbx1 T A 19: 45,234,213 K124* probably null Het
Naip2 C A 13: 100,162,083 V482L probably benign Het
Olfr596 T A 7: 103,310,357 L212* probably null Het
Pdcd11 C A 19: 47,101,165 Q325K possibly damaging Het
Pik3c3 T A 18: 30,274,446 S82R probably damaging Het
Pramef6 T A 4: 143,897,714 E71V probably benign Het
Prickle1 T C 15: 93,503,527 K359E probably damaging Het
Ptprj A G 2: 90,469,749 V236A probably damaging Het
Serpinb3d T A 1: 107,079,681 T192S probably damaging Het
Usp31 T C 7: 121,679,485 N219S probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript 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
IGL01948:Gsdmc APN 15 63778581 missense probably damaging 1.00
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 intron 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
R7862:Gsdmc UTSW 15 63777996 missense possibly damaging 0.52
R7945:Gsdmc UTSW 15 63777996 missense possibly damaging 0.52
Posted On2014-05-07