Incidental Mutation 'IGL02866:Gsdma3'
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ID362347
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gsdma3
Ensembl Gene ENSMUSG00000064224
Gene Namegasdermin A3
SynonymsGsdm1l, Bsk, Rim3, Dfl, Rco2, Gsdm3, Fgn
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.148) question?
Stock #IGL02866
Quality Score
Status
Chromosome11
Chromosomal Location98626360-98638226 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 98629759 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 72 (D72G)
Ref Sequence ENSEMBL: ENSMUSP00000103132 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073295] [ENSMUST00000104933] [ENSMUST00000107508]
Predicted Effect probably benign
Transcript: ENSMUST00000073295
AA Change: D72G

PolyPhen 2 Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000073022
Gene: ENSMUSG00000064224
AA Change: D72G

DomainStartEndE-ValueType
Pfam:Gasdermin 3 430 1.4e-132 PFAM
low complexity region 438 452 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000104933
SMART Domains Protein: ENSMUSP00000100538
Gene: ENSMUSG00000078134

DomainStartEndE-ValueType
RRM 10 78 7.02e-19 SMART
low complexity region 97 142 N/A INTRINSIC
low complexity region 147 159 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000107508
AA Change: D72G

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000103132
Gene: ENSMUSG00000064224
AA Change: D72G

DomainStartEndE-ValueType
Pfam:Gasdermin 3 421 9.5e-134 PFAM
low complexity region 429 443 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mutations of this gene affect normal development of the hair follicle, resulting in abnormal coats. Some alleles are associated with corneal opacity and/or microphthalmia. For one allele, high rates of mutation are observed in the MHC that appear to be associated with intra-MHC recombination. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts19 A T 18: 59,048,842 M1118L possibly damaging Het
Ckmt2 A T 13: 91,858,281 L315* probably null Het
Dusp28 T A 1: 92,907,656 I154N probably benign Het
Ect2l A T 10: 18,159,817 I420N probably damaging Het
Erap1 C A 13: 74,667,999 N82K probably damaging Het
Hectd1 T A 12: 51,790,613 S720C probably damaging Het
Jakmip2 T G 18: 43,552,201 E674A probably benign Het
Kcnt2 T C 1: 140,425,248 S232P probably damaging Het
Kmo T C 1: 175,653,588 S291P probably damaging Het
Kpnb1 A G 11: 97,177,286 V286A probably damaging Het
Ldah T A 12: 8,238,602 V83D probably benign Het
Mrgprb5 T A 7: 48,168,166 I274F probably damaging Het
Mum1l1 T C X: 139,235,004 V97A probably benign Het
Mycbp2 A G 14: 103,129,992 I988T probably damaging Het
Myh3 A G 11: 67,089,023 E596G probably benign Het
Ndufs1 T C 1: 63,147,141 I52V probably benign Het
Nhsl1 G T 10: 18,527,607 D1363Y probably damaging Het
Olfr1450 A G 19: 12,954,355 I255M possibly damaging Het
Olfr295 T A 7: 86,585,693 C139* probably null Het
Olfr585 C A 7: 103,098,383 T214K probably damaging Het
Olfr798 A C 10: 129,625,706 Y118* probably null Het
Pcdhb19 T C 18: 37,499,110 S653P possibly damaging Het
Plcb3 A G 19: 6,957,676 L869P probably damaging Het
Prkdc T A 16: 15,831,327 F3722I probably damaging Het
Ptprd T C 4: 76,050,437 K206R probably damaging Het
Robo3 C A 9: 37,422,306 R703L possibly damaging Het
Tob1 A T 11: 94,214,057 M140L possibly damaging Het
Ubc A T 5: 125,387,422 D280E probably benign Het
Wasf3 C A 5: 146,468,321 Q364K probably benign Het
Other mutations in Gsdma3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01097:Gsdma3 APN 11 98637572 missense probably damaging 0.97
IGL01375:Gsdma3 APN 11 98629941 critical splice donor site probably null
IGL01721:Gsdma3 APN 11 98637956 missense possibly damaging 0.95
IGL02179:Gsdma3 APN 11 98635271 missense possibly damaging 0.88
IGL02612:Gsdma3 APN 11 98635881 missense probably damaging 0.99
IGL02970:Gsdma3 APN 11 98632993 missense probably benign 0.01
Michelin UTSW 11 98637573 missense probably damaging 0.98
Mr_magoo UTSW 11 98635919 missense probably damaging 1.00
PIT4486001:Gsdma3 UTSW 11 98638054 missense unknown
R0408:Gsdma3 UTSW 11 98635338 missense probably benign 0.41
R0539:Gsdma3 UTSW 11 98635919 missense probably damaging 1.00
R0675:Gsdma3 UTSW 11 98631191 missense probably benign 0.03
R1329:Gsdma3 UTSW 11 98632392 missense probably damaging 1.00
R1759:Gsdma3 UTSW 11 98635245 missense possibly damaging 0.93
R1812:Gsdma3 UTSW 11 98632393 missense probably damaging 0.99
R1838:Gsdma3 UTSW 11 98629858 missense probably benign 0.19
R1839:Gsdma3 UTSW 11 98629858 missense probably benign 0.19
R2287:Gsdma3 UTSW 11 98638004 missense possibly damaging 0.83
R4883:Gsdma3 UTSW 11 98629567 critical splice donor site probably null
R6767:Gsdma3 UTSW 11 98637884 missense possibly damaging 0.93
R7053:Gsdma3 UTSW 11 98629795 missense possibly damaging 0.75
R7733:Gsdma3 UTSW 11 98635215 missense probably damaging 1.00
Posted On2015-12-18