Incidental Mutation 'R6016:Gsdmc3'
ID 478613
Institutional Source Beutler Lab
Gene Symbol Gsdmc3
Ensembl Gene ENSMUSG00000055827
Gene Name gasdermin C3
Synonyms 9930109F21Rik
MMRRC Submission 043255-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # R6016 (G1)
Quality Score 134.008
Status Not validated
Chromosome 15
Chromosomal Location 63729573-63750407 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 63740261 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 86 (D86A)
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: D86A

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000087339
Gene: ENSMUSG00000055827
AA Change: D86A

DomainStartEndE-ValueType
Pfam:Gasdermin 4 443 2.1e-154 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000185526
AA Change: D86A

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000140272
Gene: ENSMUSG00000055827
AA Change: D86A

DomainStartEndE-ValueType
Pfam:Gasdermin 4 443 1.4e-145 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000190682
AA Change: D86A

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000139472
Gene: ENSMUSG00000055827
AA Change: D86A

DomainStartEndE-ValueType
Pfam:Gasdermin 4 443 1.4e-145 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.0%
  • 20x: 90.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apol9b T C 15: 77,620,058 (GRCm39) S285P probably damaging Het
Casz1 C A 4: 149,019,041 (GRCm39) N447K probably damaging Het
Cltb T C 13: 54,754,480 (GRCm39) T71A possibly damaging Het
Dcaf12 A G 4: 41,313,267 (GRCm39) F93L probably damaging Het
Dnah5 T C 15: 28,328,030 (GRCm39) Y2135H probably damaging Het
Entpd2 C T 2: 25,288,568 (GRCm39) R191W probably damaging Het
Gm17067 G T 7: 42,357,654 (GRCm39) P283T probably benign Het
Gm3250 A G 10: 77,618,367 (GRCm39) probably benign Het
Gne T C 4: 44,039,063 (GRCm39) E532G probably damaging Het
Hs3st2 A G 7: 121,099,922 (GRCm39) H256R probably damaging Het
Il19 T A 1: 130,863,718 (GRCm39) D16V probably damaging Het
Lats2 A T 14: 57,971,632 (GRCm39) N14K probably damaging Het
Mill2 G T 7: 18,590,373 (GRCm39) S151I probably benign Het
Ncapg2 G A 12: 116,390,227 (GRCm39) R392H probably damaging Het
Nop56 T C 2: 130,118,545 (GRCm39) probably null Het
Or14j8 A T 17: 38,262,967 (GRCm39) V316D probably benign Het
Or2bd2 A T 7: 6,443,613 (GRCm39) H238L probably benign Het
Or5p5 A T 7: 107,414,219 (GRCm39) I143F probably benign Het
Pde1a T C 2: 79,695,406 (GRCm39) R446G probably benign Het
Pes1 T A 11: 3,928,004 (GRCm39) M552K possibly damaging Het
Plxnb2 T A 15: 89,045,225 (GRCm39) T1074S possibly damaging Het
Psg23 G T 7: 18,346,112 (GRCm39) H194Q probably benign Het
Rprd2 A G 3: 95,694,685 (GRCm39) V116A probably damaging Het
Shkbp1 A G 7: 27,053,826 (GRCm39) V124A possibly damaging Het
Slc38a8 A T 8: 120,221,044 (GRCm39) probably null Het
Slitrk6 A G 14: 110,987,958 (GRCm39) V583A probably benign Het
Sptbn5 G T 2: 119,880,573 (GRCm39) noncoding transcript Het
Stab1 A T 14: 30,880,950 (GRCm39) I614N probably damaging Het
Tgm6 A G 2: 129,983,148 (GRCm39) T246A probably damaging Het
Tnks1bp1 T C 2: 84,882,734 (GRCm39) L187P probably damaging Het
Vmn1r157 A G 7: 22,461,272 (GRCm39) R51G possibly damaging Het
Vmn2r68 A T 7: 84,871,453 (GRCm39) I610K 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
R4412:Gsdmc3 UTSW 15 63,738,645 (GRCm39) missense probably benign 0.18
R4913:Gsdmc3 UTSW 15 63,730,122 (GRCm39) makesense probably null
R5241:Gsdmc3 UTSW 15 63,735,995 (GRCm39) missense possibly damaging 0.96
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'- AGAACACAGCCTGAAACTTGG -3'
(R):5'- ATGGGTTCCAGAGTTTGCCC -3'

Sequencing Primer
(F):5'- CACAGCCTGAAACTTGGCTGAG -3'
(R):5'- GAGTTTGCCCTCTGTGATAATTTAC -3'
Posted On 2017-06-26