Incidental Mutation 'IGL03091:Gsdma2'
ID 418372
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gsdma2
Ensembl Gene ENSMUSG00000017211
Gene Name gasdermin A2
Synonyms 2200001G21Rik, Gsdml2, 2210006M16Rik, Gsdm2, 2210009F20Rik, 2210411P14Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.054) question?
Stock # IGL03091
Quality Score
Status
Chromosome 11
Chromosomal Location 98537585-98548790 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 98542828 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 29 (T29I)
Ref Sequence ENSEMBL: ENSMUSP00000017355 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017355] [ENSMUST00000093938]
AlphaFold Q32M21
Predicted Effect probably damaging
Transcript: ENSMUST00000017355
AA Change: T29I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000017355
Gene: ENSMUSG00000017211
AA Change: T29I

DomainStartEndE-ValueType
Pfam:Gasdermin 6 251 2.9e-73 PFAM
low complexity region 259 273 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000093938
AA Change: T196I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000091470
Gene: ENSMUSG00000017211
AA Change: T196I

DomainStartEndE-ValueType
Pfam:Gasdermin 3 418 9.5e-144 PFAM
low complexity region 426 440 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127692
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129186
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131549
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136111
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138686
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago1 A T 4: 126,352,982 (GRCm39) Y314N probably damaging Het
Aknad1 A G 3: 108,659,219 (GRCm39) T78A possibly damaging Het
Arhgap33 G A 7: 30,227,718 (GRCm39) P494S probably damaging Het
Babam2 T A 5: 31,943,022 (GRCm39) probably null Het
Ces2g T C 8: 105,691,386 (GRCm39) V174A probably damaging Het
Chd1l G A 3: 97,470,863 (GRCm39) R811C probably damaging Het
Crot A T 5: 9,016,897 (GRCm39) H598Q probably benign Het
Dtx2 C T 5: 136,041,228 (GRCm39) S211L probably damaging Het
Duox2 T G 2: 122,119,955 (GRCm39) M852L probably benign Het
Fmc1 G T 6: 38,516,170 (GRCm39) S72I probably damaging Het
Fut1 T C 7: 45,268,951 (GRCm39) C302R probably damaging Het
Gm6401 T C 14: 41,786,615 (GRCm39) T184A possibly damaging Het
Lgi2 C A 5: 52,721,307 (GRCm39) probably null Het
Lipe A G 7: 25,080,180 (GRCm39) L926P probably damaging Het
Lrp1 T A 10: 127,394,993 (GRCm39) I2511F probably benign Het
Med10 T C 13: 69,963,816 (GRCm39) probably benign Het
Nbea A G 3: 55,992,725 (GRCm39) S294P probably damaging Het
Neb T A 2: 52,161,324 (GRCm39) H2156L probably benign Het
Neo1 A T 9: 58,885,951 (GRCm39) N335K probably damaging Het
Nox3 G T 17: 3,716,119 (GRCm39) Q429K probably benign Het
Odad4 T A 11: 100,441,076 (GRCm39) Y102* probably null Het
Pkd1l1 T C 11: 8,805,564 (GRCm39) R1671G probably damaging Het
Plec T C 15: 76,073,503 (GRCm39) T504A possibly damaging Het
Pou5f1 G T 17: 35,820,939 (GRCm39) R127L probably benign Het
Prkdc T A 16: 15,523,174 (GRCm39) probably benign Het
Rassf8 T A 6: 145,761,536 (GRCm39) N287K probably benign Het
Rdh16 T C 10: 127,649,502 (GRCm39) probably benign Het
Ryr1 G A 7: 28,782,911 (GRCm39) A1901V possibly damaging Het
Scnn1g A G 7: 121,345,906 (GRCm39) Y343C probably damaging Het
Sema5a A G 15: 32,538,880 (GRCm39) probably benign Het
Slc9b2 G A 3: 135,034,791 (GRCm39) V310M probably damaging Het
Stox2 T A 8: 47,646,222 (GRCm39) I477F possibly damaging Het
Terb1 A T 8: 105,195,786 (GRCm39) H548Q probably benign Het
Tsks G A 7: 44,607,319 (GRCm39) M547I possibly damaging Het
Tuba8 G A 6: 121,197,403 (GRCm39) E22K probably damaging Het
Wee2 T C 6: 40,438,968 (GRCm39) F364L probably benign Het
Zfp644 A G 5: 106,784,724 (GRCm39) Y608H probably damaging Het
Other mutations in Gsdma2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02002:Gsdma2 APN 11 98,541,800 (GRCm39) missense probably damaging 1.00
IGL03252:Gsdma2 APN 11 98,539,916 (GRCm39) missense probably damaging 1.00
IGL03279:Gsdma2 APN 11 98,548,549 (GRCm39) missense unknown
R0116:Gsdma2 UTSW 11 98,540,009 (GRCm39) missense probably damaging 1.00
R0443:Gsdma2 UTSW 11 98,548,514 (GRCm39) missense probably damaging 1.00
R0521:Gsdma2 UTSW 11 98,545,727 (GRCm39) nonsense probably null
R0626:Gsdma2 UTSW 11 98,542,810 (GRCm39) missense probably damaging 0.96
R1163:Gsdma2 UTSW 11 98,541,684 (GRCm39) missense probably damaging 0.96
R1340:Gsdma2 UTSW 11 98,548,475 (GRCm39) missense probably damaging 0.97
R1834:Gsdma2 UTSW 11 98,539,905 (GRCm39) missense probably damaging 1.00
R1972:Gsdma2 UTSW 11 98,541,744 (GRCm39) missense probably benign 0.04
R2344:Gsdma2 UTSW 11 98,546,417 (GRCm39) missense probably damaging 1.00
R2964:Gsdma2 UTSW 11 98,548,085 (GRCm39) missense probably damaging 1.00
R4093:Gsdma2 UTSW 11 98,541,677 (GRCm39) missense probably benign 0.42
R4256:Gsdma2 UTSW 11 98,542,758 (GRCm39) splice site probably null
R4711:Gsdma2 UTSW 11 98,540,439 (GRCm39) missense probably damaging 0.96
R5175:Gsdma2 UTSW 11 98,543,438 (GRCm39) missense probably benign 0.01
R6734:Gsdma2 UTSW 11 98,540,416 (GRCm39) missense possibly damaging 0.94
R6909:Gsdma2 UTSW 11 98,543,383 (GRCm39) nonsense probably null
R7621:Gsdma2 UTSW 11 98,540,375 (GRCm39) missense probably benign
R7749:Gsdma2 UTSW 11 98,548,547 (GRCm39) missense unknown
R8135:Gsdma2 UTSW 11 98,542,872 (GRCm39) missense probably benign 0.00
R8775:Gsdma2 UTSW 11 98,540,009 (GRCm39) missense probably damaging 1.00
R8775-TAIL:Gsdma2 UTSW 11 98,540,009 (GRCm39) missense probably damaging 1.00
R9599:Gsdma2 UTSW 11 98,540,459 (GRCm39) missense possibly damaging 0.77
Posted On 2016-08-02