Incidental Mutation 'IGL01650:Gsdma'
ID 102795
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gsdma
Ensembl Gene ENSMUSG00000017204
Gene Name gasdermin A
Synonyms Gsdm1, H312E, Gsdm, Gsdma1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.048) question?
Stock # IGL01650
Quality Score
Status
Chromosome 11
Chromosomal Location 98664351-98677708 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to T at 98673687 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Tyrosine at position 331 (D331Y)
Ref Sequence ENSEMBL: ENSMUSP00000017348 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017348]
AlphaFold Q9EST1
Predicted Effect probably damaging
Transcript: ENSMUST00000017348
AA Change: D331Y

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000017348
Gene: ENSMUSG00000017204
AA Change: D331Y

DomainStartEndE-ValueType
Pfam:Gasdermin 3 421 2.2e-147 PFAM
low complexity region 429 443 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik G A 3: 36,992,673 probably benign Het
Agbl1 A G 7: 76,420,319 D281G probably damaging Het
Arhgap28 T C 17: 67,873,132 E236G probably damaging Het
Btbd3 A T 2: 138,284,105 D334V probably damaging Het
Cabp4 T C 19: 4,139,324 E78G probably benign Het
Clcn4 T C 7: 7,284,281 probably benign Het
Col14a1 A G 15: 55,406,693 Y600C unknown Het
Cpne4 A G 9: 104,901,511 D167G probably damaging Het
Eif3a T A 19: 60,773,996 I450F probably damaging Het
Enpp2 T A 15: 54,919,933 Y10F probably benign Het
Fam227a A T 15: 79,634,073 H339Q possibly damaging Het
Far2 C A 6: 148,173,487 T406K possibly damaging Het
Fmo1 A G 1: 162,833,584 S377P probably benign Het
Fsip2 G A 2: 82,991,086 S5721N probably benign Het
Gatb T C 3: 85,613,484 I300T possibly damaging Het
Gpam T C 19: 55,081,700 N375D probably benign Het
Kif13b T C 14: 64,765,145 V1073A probably benign Het
Mfsd4b1 T A 10: 40,003,119 M261L probably benign Het
Nav1 A T 1: 135,454,760 D1321E probably damaging Het
Olfr1312 A G 2: 112,042,375 I219T possibly damaging Het
Olfr592 A G 7: 103,187,079 I159M probably benign Het
Olfr813 T A 10: 129,857,067 L183Q probably damaging Het
Olfr816 A G 10: 129,911,681 V199A probably benign Het
Olfr951 G T 9: 39,393,956 S55I probably damaging Het
Ppp1r10 G T 17: 35,931,161 R857L unknown Het
Prune2 T A 19: 17,168,292 I2752N possibly damaging Het
Pxdn T C 12: 30,002,401 I859T probably benign Het
Ros1 T C 10: 52,154,979 D510G probably damaging Het
Sema3g C A 14: 31,221,787 P208H probably benign Het
Smcr8 T C 11: 60,778,184 F53L probably damaging Het
Tnfsf13b A T 8: 10,031,411 I219F probably damaging Het
Vmn1r62 T C 7: 5,676,025 V235A probably damaging Het
Vmn2r44 C A 7: 8,380,104 probably null Het
Zkscan7 A G 9: 122,894,827 D287G probably benign Het
Other mutations in Gsdma
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02573:Gsdma APN 11 98670751 splice site probably benign
IGL03005:Gsdma APN 11 98676259 missense probably damaging 0.97
R0143:Gsdma UTSW 11 98666254 missense probably damaging 0.96
R1337:Gsdma UTSW 11 98669707 nonsense probably null
R1533:Gsdma UTSW 11 98676384 missense unknown
R1605:Gsdma UTSW 11 98666493 missense probably damaging 0.98
R1929:Gsdma UTSW 11 98671367 critical splice donor site probably null
R1998:Gsdma UTSW 11 98673694 missense probably damaging 0.99
R2043:Gsdma UTSW 11 98666220 missense possibly damaging 0.94
R2114:Gsdma UTSW 11 98673012 missense probably damaging 1.00
R3404:Gsdma UTSW 11 98673138 splice site probably benign
R3405:Gsdma UTSW 11 98673138 splice site probably benign
R3406:Gsdma UTSW 11 98673138 splice site probably benign
R3711:Gsdma UTSW 11 98666219 nonsense probably null
R3764:Gsdma UTSW 11 98670767 missense probably damaging 0.98
R4656:Gsdma UTSW 11 98673081 missense probably damaging 1.00
R5384:Gsdma UTSW 11 98666449 critical splice acceptor site probably null
R5943:Gsdma UTSW 11 98673026 missense probably benign 0.30
R7620:Gsdma UTSW 11 98666603 missense probably benign 0.06
R8340:Gsdma UTSW 11 98666595 missense probably benign 0.07
R9349:Gsdma UTSW 11 98675945 missense probably benign 0.36
R9736:Gsdma UTSW 11 98676343 missense probably damaging 1.00
X0017:Gsdma UTSW 11 98666270 critical splice donor site probably benign
Z1176:Gsdma UTSW 11 98669759 missense probably damaging 1.00
Posted On 2014-01-21