Incidental Mutation 'R4412:Gsdmc3'
ID 327986
Institutional Source Beutler Lab
Gene Symbol Gsdmc3
Ensembl Gene ENSMUSG00000055827
Gene Name gasdermin C3
Synonyms 9930109F21Rik
MMRRC Submission 041135-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # R4412 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 63729573-63750407 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 63738645 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 139 (M139T)
Ref Sequence ENSEMBL: ENSMUSP00000139472 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089894] [ENSMUST00000185526] [ENSMUST00000190682]
AlphaFold Q8CB12
Predicted Effect probably benign
Transcript: ENSMUST00000089894
AA Change: M139T

PolyPhen 2 Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000087339
Gene: ENSMUSG00000055827
AA Change: M139T

DomainStartEndE-ValueType
Pfam:Gasdermin 4 443 2.1e-154 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000185526
AA Change: M139T

PolyPhen 2 Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000140272
Gene: ENSMUSG00000055827
AA Change: M139T

DomainStartEndE-ValueType
Pfam:Gasdermin 4 443 1.4e-145 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000190682
AA Change: M139T

PolyPhen 2 Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000139472
Gene: ENSMUSG00000055827
AA Change: M139T

DomainStartEndE-ValueType
Pfam:Gasdermin 4 443 1.4e-145 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb1 T C 15: 74,449,302 (GRCm39) probably benign Het
Adprhl1 T C 8: 13,296,114 (GRCm39) K144E probably benign Het
Alpl A G 4: 137,485,939 (GRCm39) I2T possibly damaging Het
Chdh G T 14: 29,753,672 (GRCm39) G194C probably damaging Het
Cp A T 3: 20,020,517 (GRCm39) D170V probably damaging Het
Cpne9 A G 6: 113,266,962 (GRCm39) K132E possibly damaging Het
Cyp2b9 T G 7: 25,897,868 (GRCm39) L224R probably damaging Het
Dmxl1 A G 18: 49,981,828 (GRCm39) N153S probably benign Het
Dnah17 T C 11: 117,964,509 (GRCm39) Y2423C probably damaging Het
Dnajc14 G T 10: 128,642,074 (GRCm39) probably benign Het
Eipr1 A T 12: 28,909,372 (GRCm39) D213V probably damaging Het
Fat1 T C 8: 45,476,636 (GRCm39) V1894A probably damaging Het
Flrt2 G A 12: 95,747,047 (GRCm39) V462I probably benign Het
Gigyf2 A G 1: 87,364,582 (GRCm39) E954G probably damaging Het
Glis1 A G 4: 107,491,915 (GRCm39) H593R probably damaging Het
Gpr21 C G 2: 37,407,444 (GRCm39) probably benign Het
Hydin C T 8: 111,142,368 (GRCm39) T749I probably damaging Het
Ilf3 C T 9: 21,310,856 (GRCm39) P620S possibly damaging Het
Khdc3 A G 9: 73,010,156 (GRCm39) T71A possibly damaging Het
Ms4a12 T C 19: 11,207,807 (GRCm39) N33S probably benign Het
Nisch A G 14: 30,908,615 (GRCm39) probably benign Het
Npr2 G A 4: 43,644,150 (GRCm39) C593Y probably damaging Het
Npr3 G C 15: 11,905,235 (GRCm39) T164R probably benign Het
Or4c1 A G 2: 89,133,684 (GRCm39) I84T probably benign Het
Palld A G 8: 62,140,406 (GRCm39) Y534H probably damaging Het
Pcdhb10 TC T 18: 37,547,194 (GRCm39) probably null Het
Plekhg3 A C 12: 76,624,538 (GRCm39) T1127P probably damaging Het
Podnl1 A T 8: 84,857,294 (GRCm39) H301L probably benign Het
Ripk2 A G 4: 16,124,511 (GRCm39) V399A probably benign Het
Rpp30 T A 19: 36,077,655 (GRCm39) N172K possibly damaging Het
Sin3b C T 8: 73,466,407 (GRCm39) A291V probably benign Het
Slc12a6 A T 2: 112,166,233 (GRCm39) Q204L possibly damaging Het
Snx9 C T 17: 5,958,669 (GRCm39) T249M probably damaging Het
Sohlh2 C A 3: 55,104,423 (GRCm39) T264K probably damaging Het
Srrm2 A G 17: 24,029,442 (GRCm39) probably benign Het
Syne2 T A 12: 76,152,834 (GRCm39) H6674Q probably benign Het
Tyw1 T A 5: 130,364,073 (GRCm39) probably null Het
Vmn1r115 C T 7: 20,578,207 (GRCm39) R235K probably benign Het
Vmn2r50 A C 7: 9,784,235 (GRCm39) F80V probably damaging Het
Yme1l1 G A 2: 23,065,199 (GRCm39) R236H probably damaging Het
Other mutations in Gsdmc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00490:Gsdmc3 APN 15 63,731,526 (GRCm39) missense probably benign 0.05
IGL01125:Gsdmc3 APN 15 63,733,306 (GRCm39) missense probably benign 0.09
R0490:Gsdmc3 UTSW 15 63,732,099 (GRCm39) missense possibly damaging 0.88
R0620:Gsdmc3 UTSW 15 63,731,542 (GRCm39) missense probably damaging 1.00
R0932:Gsdmc3 UTSW 15 63,730,400 (GRCm39) critical splice acceptor site probably null
R1298:Gsdmc3 UTSW 15 63,732,130 (GRCm39) missense probably damaging 0.99
R1378:Gsdmc3 UTSW 15 63,731,435 (GRCm39) splice site probably benign
R1815:Gsdmc3 UTSW 15 63,740,965 (GRCm39) missense probably damaging 1.00
R1962:Gsdmc3 UTSW 15 63,730,315 (GRCm39) missense probably damaging 1.00
R1965:Gsdmc3 UTSW 15 63,730,296 (GRCm39) missense probably damaging 1.00
R2088:Gsdmc3 UTSW 15 63,732,063 (GRCm39) critical splice donor site probably null
R2090:Gsdmc3 UTSW 15 63,738,631 (GRCm39) missense probably benign 0.07
R2126:Gsdmc3 UTSW 15 63,730,383 (GRCm39) nonsense probably null
R2276:Gsdmc3 UTSW 15 63,732,105 (GRCm39) missense probably benign 0.09
R4913:Gsdmc3 UTSW 15 63,730,122 (GRCm39) makesense probably null
R5241:Gsdmc3 UTSW 15 63,735,995 (GRCm39) missense possibly damaging 0.96
R6016:Gsdmc3 UTSW 15 63,740,261 (GRCm39) missense probably benign 0.07
R6026:Gsdmc3 UTSW 15 63,738,600 (GRCm39) missense probably damaging 1.00
R6291:Gsdmc3 UTSW 15 63,732,090 (GRCm39) missense probably benign 0.00
R6698:Gsdmc3 UTSW 15 63,732,120 (GRCm39) missense possibly damaging 0.94
R7316:Gsdmc3 UTSW 15 63,730,251 (GRCm39) missense possibly damaging 0.81
R7566:Gsdmc3 UTSW 15 63,733,510 (GRCm39) missense possibly damaging 0.77
R7717:Gsdmc3 UTSW 15 63,741,061 (GRCm39) missense probably damaging 1.00
R8978:Gsdmc3 UTSW 15 63,731,455 (GRCm39) missense probably damaging 1.00
R9104:Gsdmc3 UTSW 15 63,730,941 (GRCm39) critical splice donor site probably null
R9417:Gsdmc3 UTSW 15 63,738,663 (GRCm39) missense possibly damaging 0.66
Predicted Primers PCR Primer
(F):5'- TGGAAAGCGATCCCCAGAATC -3'
(R):5'- CACGTGTACCATGTTATCAACTTC -3'

Sequencing Primer
(F):5'- CCTAAGAAGCAAGAGTACACTAGCTG -3'
(R):5'- TTATTGACTGAGGAACGTCCCCAG -3'
Posted On 2015-07-07