Incidental Mutation 'IGL03279:Gsdma2'
ID415539
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gsdma2
Ensembl Gene ENSMUSG00000017211
Gene Namegasdermin A2
Synonyms2210411P14Rik, 2210006M16Rik, 2200001G21Rik, 2210009F20Rik, Gsdm2, Gsdml2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.058) question?
Stock #IGL03279
Quality Score
Status
Chromosome11
Chromosomal Location98646759-98657964 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 98657723 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 434 (S434P)
Ref Sequence ENSEMBL: ENSMUSP00000091470 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017355] [ENSMUST00000093938]
Predicted Effect unknown
Transcript: ENSMUST00000017355
AA Change: S267P
SMART Domains Protein: ENSMUSP00000017355
Gene: ENSMUSG00000017211
AA Change: S267P

DomainStartEndE-ValueType
Pfam:Gasdermin 6 251 2.9e-73 PFAM
low complexity region 259 273 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000093938
AA Change: S434P
SMART Domains Protein: ENSMUSP00000091470
Gene: ENSMUSG00000017211
AA Change: S434P

DomainStartEndE-ValueType
Pfam:Gasdermin 3 418 9.5e-144 PFAM
low complexity region 426 440 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129186
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk T A 11: 120,013,678 D224V probably damaging Het
Abca4 C A 3: 122,141,732 N1526K probably benign Het
Aif1 T A 17: 35,171,547 K76* probably null Het
Arap2 A G 5: 62,621,910 S1446P probably damaging Het
Cyb5rl A T 4: 107,084,128 E250V possibly damaging Het
Dock3 T C 9: 106,911,248 probably benign Het
Dppa2 A G 16: 48,311,665 T42A possibly damaging Het
Drosha C T 15: 12,859,392 P562L probably benign Het
Egfl7 C A 2: 26,590,707 H126N probably benign Het
Gm5852 T C 3: 93,727,277 noncoding transcript Het
Gpr161 T C 1: 165,310,529 F228S probably damaging Het
Grid1 T A 14: 34,945,765 M83K probably damaging Het
Hao2 T A 3: 98,880,396 N239I possibly damaging Het
Hsd17b14 A T 7: 45,566,193 I206F possibly damaging Het
Kansl1l A T 1: 66,735,666 V667E probably damaging Het
Kdm3a T C 6: 71,611,675 D450G probably benign Het
Lmo7 C A 14: 101,900,508 A882E probably benign Het
P4ha3 A G 7: 100,300,686 Y254C probably damaging Het
Pcdh15 A G 10: 74,317,072 Y408C probably damaging Het
Pglyrp3 T C 3: 92,026,527 Y160H probably damaging Het
Pnma5 G A X: 73,035,999 T359I probably benign Het
Ptbp3 A T 4: 59,476,937 H440Q possibly damaging Het
Rbx1 A G 15: 81,468,198 N41S probably damaging Het
Rpl3 G A 15: 80,078,359 T340I probably benign Het
Scrn1 G A 6: 54,548,337 R16* probably null Het
Sema6a A T 18: 47,300,090 C91* probably null Het
Slco6d1 T A 1: 98,466,680 V363E probably damaging Het
Stk38 A G 17: 28,984,205 probably benign Het
Tanc2 G A 11: 105,913,092 probably null Het
Thada A G 17: 84,435,560 F812S probably benign Het
Tubb4b-ps1 A G 5: 7,179,630 probably benign Het
Veph1 T C 3: 66,255,022 T72A probably damaging Het
Vps52 T A 17: 33,957,874 D67E probably damaging Het
Other mutations in Gsdma2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02002:Gsdma2 APN 11 98650974 missense probably damaging 1.00
IGL03091:Gsdma2 APN 11 98652002 missense probably damaging 1.00
IGL03252:Gsdma2 APN 11 98649090 missense probably damaging 1.00
R0116:Gsdma2 UTSW 11 98649183 missense probably damaging 1.00
R0443:Gsdma2 UTSW 11 98657688 missense probably damaging 1.00
R0521:Gsdma2 UTSW 11 98654901 nonsense probably null
R0626:Gsdma2 UTSW 11 98651984 missense probably damaging 0.96
R1163:Gsdma2 UTSW 11 98650858 missense probably damaging 0.96
R1340:Gsdma2 UTSW 11 98657649 missense probably damaging 0.97
R1834:Gsdma2 UTSW 11 98649079 missense probably damaging 1.00
R1972:Gsdma2 UTSW 11 98650918 missense probably benign 0.04
R2344:Gsdma2 UTSW 11 98655591 missense probably damaging 1.00
R2964:Gsdma2 UTSW 11 98657259 missense probably damaging 1.00
R4093:Gsdma2 UTSW 11 98650851 missense probably benign 0.42
R4256:Gsdma2 UTSW 11 98651932 splice site probably null
R4711:Gsdma2 UTSW 11 98649613 missense probably damaging 0.96
R5175:Gsdma2 UTSW 11 98652612 missense probably benign 0.01
R6734:Gsdma2 UTSW 11 98649590 missense possibly damaging 0.94
R6909:Gsdma2 UTSW 11 98652557 nonsense probably null
R7621:Gsdma2 UTSW 11 98649549 missense probably benign
R7749:Gsdma2 UTSW 11 98657721 missense unknown
R8135:Gsdma2 UTSW 11 98652046 missense probably benign 0.00
Posted On2016-08-02