Incidental Mutation 'R1329:Gsdma3'
ID 156125
Institutional Source Beutler Lab
Gene Symbol Gsdma3
Ensembl Gene ENSMUSG00000064224
Gene Name gasdermin A3
Synonyms Dfl, Bsk, Rim3, Gsdm3, Gsdm1l, Fgn, Rco2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # R1329 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 98517186-98529052 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 98523218 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 203 (V203F)
Ref Sequence ENSEMBL: ENSMUSP00000103132 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073295] [ENSMUST00000107508]
AlphaFold Q5Y4Y6
Predicted Effect probably damaging
Transcript: ENSMUST00000073295
AA Change: V203F

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000073022
Gene: ENSMUSG00000064224
AA Change: V203F

DomainStartEndE-ValueType
Pfam:Gasdermin 3 430 1.4e-132 PFAM
low complexity region 438 452 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000107508
AA Change: V203F

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000103132
Gene: ENSMUSG00000064224
AA Change: V203F

DomainStartEndE-ValueType
Pfam:Gasdermin 3 421 9.5e-134 PFAM
low complexity region 429 443 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.1%
  • 20x: 92.5%
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot7 C T 4: 152,314,241 (GRCm39) Q188* probably null Het
Ano5 T C 7: 51,196,533 (GRCm39) Y141H probably benign Het
Atg101 G A 15: 101,188,171 (GRCm39) G92D probably null Het
Brwd1 A G 16: 95,804,434 (GRCm39) I1912T probably benign Het
Cad G T 5: 31,216,926 (GRCm39) G263W probably damaging Het
Clstn2 T C 9: 97,340,227 (GRCm39) E715G probably damaging Het
Cracd A G 5: 76,805,779 (GRCm39) probably benign Het
Dbp C T 7: 45,357,752 (GRCm39) P70S probably damaging Het
Fem1al T A 11: 29,773,553 (GRCm39) N635Y probably benign Het
Gpr61 T A 3: 108,057,830 (GRCm39) H277L probably benign Het
Ifih1 G C 2: 62,447,831 (GRCm39) probably null Het
Myo1e T A 9: 70,246,020 (GRCm39) C404S possibly damaging Het
Myrfl A G 10: 116,613,247 (GRCm39) probably null Het
Nfat5 T G 8: 108,095,659 (GRCm39) M1300R probably benign Het
Nfrkb C T 9: 31,325,943 (GRCm39) P1129S possibly damaging Het
Nubp2 A T 17: 25,102,838 (GRCm39) N208K possibly damaging Het
Or8g20 A G 9: 39,395,740 (GRCm39) S270P probably damaging Het
Ovch2 T C 7: 107,384,653 (GRCm39) D488G probably damaging Het
Rfx6 A T 10: 51,569,833 (GRCm39) Y202F probably damaging Het
Rin2 C T 2: 145,702,366 (GRCm39) T354I probably benign Het
Usp4 T A 9: 108,249,765 (GRCm39) V431E probably damaging Het
Vil1 A G 1: 74,466,717 (GRCm39) I636V probably benign Het
Vmn2r116 A G 17: 23,606,162 (GRCm39) N358S possibly damaging Het
Wdr47 T A 3: 108,534,615 (GRCm39) N511K probably benign Het
Wdr5 T A 2: 27,421,683 (GRCm39) F222I 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
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
R2287:Gsdma3 UTSW 11 98,528,830 (GRCm39) missense possibly damaging 0.83
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'- CAAGGGCCATAAGTTCAGAGCACAG -3'
(R):5'- AAGGCATCAGGAGGTCATCACCAG -3'

Sequencing Primer
(F):5'- GACAACTAGAGATCCTTCTGAAGGC -3'
(R):5'- AATTCAGGTCCTTCATCGAGAGC -3'
Posted On 2014-02-11