Incidental Mutation 'R2287:Gsdma3'
ID 244161
Institutional Source Beutler Lab
Gene Symbol Gsdma3
Ensembl Gene ENSMUSG00000064224
Gene Name gasdermin A3
Synonyms Dfl, Bsk, Rim3, Gsdm3, Gsdm1l, Fgn, Rco2
MMRRC Submission 040286-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # R2287 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 98517186-98529052 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 98528830 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 428 (N428S)
Ref Sequence ENSEMBL: ENSMUSP00000103132 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073295] [ENSMUST00000107508]
AlphaFold Q5Y4Y6
Predicted Effect possibly damaging
Transcript: ENSMUST00000073295
AA Change: N437S

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000073022
Gene: ENSMUSG00000064224
AA Change: N437S

DomainStartEndE-ValueType
Pfam:Gasdermin 3 430 1.4e-132 PFAM
low complexity region 438 452 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000107508
AA Change: N428S

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000103132
Gene: ENSMUSG00000064224
AA Change: N428S

DomainStartEndE-ValueType
Pfam:Gasdermin 3 421 9.5e-134 PFAM
low complexity region 429 443 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Clec4f CTT CT 6: 83,630,247 (GRCm39) probably null Het
Dis3l T A 9: 64,214,779 (GRCm39) Q930L probably benign Het
Edem2 T C 2: 155,555,279 (GRCm39) K275E probably benign Het
Ehf T C 2: 103,097,469 (GRCm39) I193V possibly damaging Het
Gtf2h4 C A 17: 35,982,117 (GRCm39) probably null Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Naalad2 A T 9: 18,246,317 (GRCm39) probably null Het
Ndufa8 C T 2: 35,926,554 (GRCm39) A161T probably benign Het
Nlrp14 A T 7: 106,781,869 (GRCm39) L355F probably damaging Het
Nsf C T 11: 103,821,578 (GRCm39) E26K possibly damaging Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Pcnx4 T C 12: 72,622,172 (GRCm39) I1047T probably benign Het
Pcolce2 G A 9: 95,560,458 (GRCm39) W169* probably null Het
Plxdc2 A G 2: 16,517,001 (GRCm39) D94G probably benign Het
Rp1 A T 1: 4,416,182 (GRCm39) Y1643* probably null Het
Skint4 A G 4: 111,975,402 (GRCm39) T121A possibly damaging Het
Speg A G 1: 75,407,109 (GRCm39) I3133V possibly damaging Het
Top2b T G 14: 16,409,189 (GRCm38) I777M probably damaging Het
Trim34a T A 7: 103,910,262 (GRCm39) S355T probably damaging Het
Trpv6 T G 6: 41,603,045 (GRCm39) N276H probably damaging Het
Vps8 T C 16: 21,387,163 (GRCm39) V1175A probably damaging Het
Other mutations in Gsdma3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01097:Gsdma3 APN 11 98,528,398 (GRCm39) missense probably damaging 0.97
IGL01375:Gsdma3 APN 11 98,520,767 (GRCm39) critical splice donor site probably null
IGL01721:Gsdma3 APN 11 98,528,782 (GRCm39) missense possibly damaging 0.95
IGL02179:Gsdma3 APN 11 98,526,097 (GRCm39) missense possibly damaging 0.88
IGL02612:Gsdma3 APN 11 98,526,707 (GRCm39) missense probably damaging 0.99
IGL02866:Gsdma3 APN 11 98,520,585 (GRCm39) missense possibly damaging 0.88
IGL02970:Gsdma3 APN 11 98,523,819 (GRCm39) missense probably benign 0.01
Michelin UTSW 11 98,528,399 (GRCm39) missense probably damaging 0.98
Mr_magoo UTSW 11 98,526,745 (GRCm39) missense probably damaging 1.00
PIT4486001:Gsdma3 UTSW 11 98,528,880 (GRCm39) missense unknown
R0408:Gsdma3 UTSW 11 98,526,164 (GRCm39) missense probably benign 0.41
R0539:Gsdma3 UTSW 11 98,526,745 (GRCm39) missense probably damaging 1.00
R0675:Gsdma3 UTSW 11 98,522,017 (GRCm39) missense probably benign 0.03
R1329:Gsdma3 UTSW 11 98,523,218 (GRCm39) missense probably damaging 1.00
R1759:Gsdma3 UTSW 11 98,526,071 (GRCm39) missense possibly damaging 0.93
R1812:Gsdma3 UTSW 11 98,523,219 (GRCm39) missense probably damaging 0.99
R1838:Gsdma3 UTSW 11 98,520,684 (GRCm39) missense probably benign 0.19
R1839:Gsdma3 UTSW 11 98,520,684 (GRCm39) missense probably benign 0.19
R4883:Gsdma3 UTSW 11 98,520,393 (GRCm39) critical splice donor site probably null
R6767:Gsdma3 UTSW 11 98,528,710 (GRCm39) missense possibly damaging 0.93
R7053:Gsdma3 UTSW 11 98,520,621 (GRCm39) missense possibly damaging 0.75
R7733:Gsdma3 UTSW 11 98,526,041 (GRCm39) missense probably damaging 1.00
R8417:Gsdma3 UTSW 11 98,520,603 (GRCm39) missense probably benign 0.02
R8858:Gsdma3 UTSW 11 98,520,695 (GRCm39) missense probably benign 0.38
R8859:Gsdma3 UTSW 11 98,522,086 (GRCm39) missense possibly damaging 0.85
R9777:Gsdma3 UTSW 11 98,526,071 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCACCTTGGAGCAGAACTTC -3'
(R):5'- AACTTCAGGATTTAAGCATCAGGAG -3'

Sequencing Primer
(F):5'- CCTGCAAGATAAAGAGGGTGTTTTCC -3'
(R):5'- CATCAGGAGATGGGCTTAGTG -3'
Posted On 2014-10-30