Incidental Mutation 'IGL01125:Gsdmc3'
ID52832
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gsdmc3
Ensembl Gene ENSMUSG00000055827
Gene Namegasdermin C3
Synonyms9930109F21Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.049) question?
Stock #IGL01125
Quality Score
Status
Chromosome15
Chromosomal Location63857724-63878558 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 63861457 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 258 (D258V)
Ref Sequence ENSEMBL: ENSMUSP00000139472 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089894] [ENSMUST00000185526] [ENSMUST00000190682]
Predicted Effect probably benign
Transcript: ENSMUST00000089894
AA Change: D258V

PolyPhen 2 Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000087339
Gene: ENSMUSG00000055827
AA Change: D258V

DomainStartEndE-ValueType
Pfam:Gasdermin 4 443 2.1e-154 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000185526
AA Change: D258V

PolyPhen 2 Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000140272
Gene: ENSMUSG00000055827
AA Change: D258V

DomainStartEndE-ValueType
Pfam:Gasdermin 4 443 1.4e-145 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000190682
AA Change: D258V

PolyPhen 2 Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000139472
Gene: ENSMUSG00000055827
AA Change: D258V

DomainStartEndE-ValueType
Pfam:Gasdermin 4 443 1.4e-145 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg2 C T X: 160,492,708 T931I probably damaging Het
Atp5g3 A G 2: 73,910,949 probably benign Het
Btd T A 14: 31,667,776 F485I probably benign Het
Camk2d A G 3: 126,798,285 probably benign Het
Cd300lg A T 11: 102,054,221 probably benign Het
Col9a1 A G 1: 24,224,645 probably null Het
Cybb T A X: 9,446,744 N367I possibly damaging Het
Dcaf17 T C 2: 71,089,805 V479A probably benign Het
Dscaml1 G T 9: 45,749,632 probably null Het
Espl1 T C 15: 102,322,938 F51S probably damaging Het
Gm8979 A T 7: 106,082,814 N411K unknown Het
Ifngr1 C T 10: 19,597,413 probably benign Het
Kcnip1 A T 11: 33,633,202 D194E probably damaging Het
Lrrtm1 C T 6: 77,244,453 R298C probably damaging Het
Map3k4 G A 17: 12,271,962 S194L probably damaging Het
Mfsd7a A G 5: 108,444,592 probably benign Het
Mmp16 A G 4: 18,112,066 K481E possibly damaging Het
Myh1 A T 11: 67,220,660 M1642L probably benign Het
Nol9 G T 4: 152,046,609 C363F probably damaging Het
Nsd1 T C 13: 55,245,617 S344P probably damaging Het
Olfr678 A T 7: 105,069,601 I45F probably benign Het
Phf20 G A 2: 156,303,184 probably null Het
Ppp3cc G T 14: 70,218,252 H467Q probably damaging Het
Rab28 A G 5: 41,635,894 M136T probably benign Het
Rag1 A G 2: 101,642,001 I932T probably damaging Het
Sez6 T C 11: 77,977,289 probably benign Het
Sorcs1 T C 19: 50,228,201 T647A probably damaging Het
Sspo T A 6: 48,492,888 C4507S probably damaging Het
Traf3ip3 T C 1: 193,184,464 probably null Het
Vmn2r121 T A X: 124,132,807 I218F probably damaging Het
Vmn2r61 A G 7: 42,260,126 Y25C probably damaging Het
Other mutations in Gsdmc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00490:Gsdmc3 APN 15 63859677 missense probably benign 0.05
R0490:Gsdmc3 UTSW 15 63860250 missense possibly damaging 0.88
R0620:Gsdmc3 UTSW 15 63859693 missense probably damaging 1.00
R0932:Gsdmc3 UTSW 15 63858551 critical splice acceptor site probably null
R1298:Gsdmc3 UTSW 15 63860281 missense probably damaging 0.99
R1378:Gsdmc3 UTSW 15 63859586 splice site probably benign
R1815:Gsdmc3 UTSW 15 63869116 missense probably damaging 1.00
R1962:Gsdmc3 UTSW 15 63858466 missense probably damaging 1.00
R1965:Gsdmc3 UTSW 15 63858447 missense probably damaging 1.00
R2088:Gsdmc3 UTSW 15 63860214 critical splice donor site probably null
R2090:Gsdmc3 UTSW 15 63866782 missense probably benign 0.07
R2126:Gsdmc3 UTSW 15 63858534 nonsense probably null
R2276:Gsdmc3 UTSW 15 63860256 missense probably benign 0.09
R4412:Gsdmc3 UTSW 15 63866796 missense probably benign 0.18
R4913:Gsdmc3 UTSW 15 63858273 makesense probably null
R5241:Gsdmc3 UTSW 15 63864146 missense possibly damaging 0.96
R6016:Gsdmc3 UTSW 15 63868412 missense probably benign 0.07
R6026:Gsdmc3 UTSW 15 63866751 missense probably damaging 1.00
R6291:Gsdmc3 UTSW 15 63860241 missense probably benign 0.00
R6698:Gsdmc3 UTSW 15 63860271 missense possibly damaging 0.94
R7316:Gsdmc3 UTSW 15 63858402 missense possibly damaging 0.81
R7566:Gsdmc3 UTSW 15 63861661 missense possibly damaging 0.77
Posted On2013-06-21