Incidental Mutation 'R2043:Gsdma'
ID 225219
Institutional Source Beutler Lab
Gene Symbol Gsdma
Ensembl Gene ENSMUSG00000017204
Gene Name gasdermin A
Synonyms Gsdm1, H312E, Gsdm, Gsdma1
MMRRC Submission 040050-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # R2043 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 98555177-98568534 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 98557046 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 54 (V54M)
Ref Sequence ENSEMBL: ENSMUSP00000017348 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017348]
AlphaFold Q9EST1
Predicted Effect possibly damaging
Transcript: ENSMUST00000017348
AA Change: V54M

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000017348
Gene: ENSMUSG00000017204
AA Change: V54M

DomainStartEndE-ValueType
Pfam:Gasdermin 3 421 2.2e-147 PFAM
low complexity region 429 443 N/A INTRINSIC
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 96% (47/49)
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam9 A G 8: 25,486,669 (GRCm39) probably null Het
Adnp2 A C 18: 80,171,541 (GRCm39) M956R probably damaging Het
Aldh1l1 T A 6: 90,534,314 (GRCm39) D36E probably benign Het
Ankmy1 T C 1: 92,804,249 (GRCm39) probably benign Het
Apaf1 T C 10: 90,872,890 (GRCm39) D718G probably damaging Het
Ascc3 C T 10: 50,576,616 (GRCm39) P857L probably damaging Het
Atp8b1 T C 18: 64,738,271 (GRCm39) K60R possibly damaging Het
Bub1 A T 2: 127,646,140 (GRCm39) C947S probably damaging Het
Cacna1c C T 6: 118,573,049 (GRCm39) G2017D probably benign Het
Capn3 A G 2: 120,322,382 (GRCm39) N414S possibly damaging Het
Ccdc110 T C 8: 46,395,864 (GRCm39) M585T probably benign Het
Cep85l A T 10: 53,234,224 (GRCm39) N51K possibly damaging Het
Cftr T C 6: 18,320,934 (GRCm39) F1415L probably benign Het
Cln5 T C 14: 103,313,380 (GRCm39) S211P probably damaging Het
Dcaf5 A T 12: 80,386,991 (GRCm39) D378E probably benign Het
Dhx57 A G 17: 80,560,509 (GRCm39) probably benign Het
Dsn1 G A 2: 156,847,273 (GRCm39) S55L possibly damaging Het
Eif5b T C 1: 38,080,900 (GRCm39) F747S probably damaging Het
Entrep3 A G 3: 89,092,874 (GRCm39) Y251C probably damaging Het
Fbxo25 A G 8: 13,971,905 (GRCm39) I86V probably damaging Het
Fpr-rs4 CAGGAA CA 17: 18,242,596 (GRCm39) probably null Het
Glcci1 T A 6: 8,582,590 (GRCm39) I130K probably damaging Het
Gm5424 A G 10: 61,906,990 (GRCm39) noncoding transcript Het
H3c3 A G 13: 23,929,278 (GRCm39) F68S probably damaging Het
Heatr3 T A 8: 88,874,322 (GRCm39) probably benign Het
Hspa13 A G 16: 75,555,156 (GRCm39) L310S probably benign Het
Il6st A C 13: 112,616,753 (GRCm39) Q100P probably benign Het
Ly6g6e G A 17: 35,296,840 (GRCm39) R27Q possibly damaging Het
Mis18bp1 A T 12: 65,196,192 (GRCm39) I524K probably damaging Het
Myo18a T C 11: 77,714,189 (GRCm39) I761T probably damaging Het
Mypop T C 7: 18,734,944 (GRCm39) probably benign Het
Or51ag1 A G 7: 103,156,150 (GRCm39) M1T probably null Het
Pcdh20 G A 14: 88,704,591 (GRCm39) T903I probably benign Het
Pdk4 A T 6: 5,485,502 (GRCm39) C396S probably benign Het
Piwil2 A G 14: 70,628,919 (GRCm39) V699A probably benign Het
Plekha5 T C 6: 140,498,530 (GRCm39) probably benign Het
Ralgapa1 T A 12: 55,723,811 (GRCm39) I1572L probably damaging Het
Rasgrf2 T A 13: 92,167,351 (GRCm39) M241L possibly damaging Het
Ryr1 C T 7: 28,759,056 (GRCm39) R3374H probably damaging Het
Slc24a2 A T 4: 86,914,882 (GRCm39) M519K probably damaging Het
Smg9 T A 7: 24,105,001 (GRCm39) I67N possibly damaging Het
Spart G A 3: 55,034,969 (GRCm39) A452T probably damaging Het
Ush2a T A 1: 188,648,453 (GRCm39) F4686Y probably benign Het
Zfp146 T C 7: 29,861,664 (GRCm39) K126R possibly damaging Het
Zfp386 T A 12: 116,022,781 (GRCm39) D131E probably benign Het
Zfp423 T C 8: 88,509,246 (GRCm39) D366G probably damaging Het
Zfp729a T C 13: 67,769,291 (GRCm39) K313E probably damaging Het
Zfp955a G A 17: 33,461,527 (GRCm39) H202Y possibly damaging Het
Other mutations in Gsdma
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01650:Gsdma APN 11 98,564,513 (GRCm39) missense probably damaging 0.98
IGL02573:Gsdma APN 11 98,561,577 (GRCm39) splice site probably benign
IGL03005:Gsdma APN 11 98,567,085 (GRCm39) missense probably damaging 0.97
R0143:Gsdma UTSW 11 98,557,080 (GRCm39) missense probably damaging 0.96
R1337:Gsdma UTSW 11 98,560,533 (GRCm39) nonsense probably null
R1533:Gsdma UTSW 11 98,567,210 (GRCm39) missense unknown
R1605:Gsdma UTSW 11 98,557,319 (GRCm39) missense probably damaging 0.98
R1929:Gsdma UTSW 11 98,562,193 (GRCm39) critical splice donor site probably null
R1998:Gsdma UTSW 11 98,564,520 (GRCm39) missense probably damaging 0.99
R2114:Gsdma UTSW 11 98,563,838 (GRCm39) missense probably damaging 1.00
R3404:Gsdma UTSW 11 98,563,964 (GRCm39) splice site probably benign
R3405:Gsdma UTSW 11 98,563,964 (GRCm39) splice site probably benign
R3406:Gsdma UTSW 11 98,563,964 (GRCm39) splice site probably benign
R3711:Gsdma UTSW 11 98,557,045 (GRCm39) nonsense probably null
R3764:Gsdma UTSW 11 98,561,593 (GRCm39) missense probably damaging 0.98
R4656:Gsdma UTSW 11 98,563,907 (GRCm39) missense probably damaging 1.00
R5384:Gsdma UTSW 11 98,557,275 (GRCm39) critical splice acceptor site probably null
R5943:Gsdma UTSW 11 98,563,852 (GRCm39) missense probably benign 0.30
R7620:Gsdma UTSW 11 98,557,429 (GRCm39) missense probably benign 0.06
R8340:Gsdma UTSW 11 98,557,421 (GRCm39) missense probably benign 0.07
R9349:Gsdma UTSW 11 98,566,771 (GRCm39) missense probably benign 0.36
R9736:Gsdma UTSW 11 98,567,169 (GRCm39) missense probably damaging 1.00
X0017:Gsdma UTSW 11 98,557,096 (GRCm39) critical splice donor site probably benign
Z1176:Gsdma UTSW 11 98,560,585 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TACAAAGTCCTTACCAGGTCTTG -3'
(R):5'- AGAGAACTCTGGGCTTGGTG -3'

Sequencing Primer
(F):5'- AAGTCCTTACCAGGTCTTGACGAC -3'
(R):5'- TGGTGACCCCTAACCATATCAGTG -3'
Posted On 2014-08-25