Incidental Mutation 'R1301:Gsdmd'
ID 262752
Institutional Source Beutler Lab
Gene Symbol Gsdmd
Ensembl Gene ENSMUSG00000022575
Gene Name gasdermin D
Synonyms Dfna5l, Gsdmdc1, 1810036L03Rik, DF5L, M2-4
MMRRC Submission 039367-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1301 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 75734176-75739257 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to A at 75738908 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000023238 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023238] [ENSMUST00000229331] [ENSMUST00000230514]
AlphaFold Q9D8T2
Predicted Effect probably null
Transcript: ENSMUST00000023238
SMART Domains Protein: ENSMUSP00000023238
Gene: ENSMUSG00000022575

DomainStartEndE-ValueType
Pfam:Gasdermin 4 461 8.3e-175 PFAM
low complexity region 470 482 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000229331
Predicted Effect probably benign
Transcript: ENSMUST00000230514
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230571
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230881
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231170
Coding Region Coverage
  • 1x: 98.7%
  • 3x: 97.5%
  • 10x: 93.3%
  • 20x: 82.6%
Validation Efficiency 96% (67/70)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Gasdermin D is a member of the gasdermin family. Members of this family appear to play a role in regulation of epithelial proliferation. Gasdermin D has been suggested to act as a tumor suppressor. Alternatively spliced transcript variants have been described. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and grossly normal with no apparent defects in the development and maintenance of the intestinal epithelium. Mice homozygous for another null allele exhibit impaired induced pyroptosis and Il1b secretion. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm2 T A 4: 144,291,635 (GRCm39) I24L probably benign Het
Ano1 A G 7: 144,187,426 (GRCm39) W447R possibly damaging Het
Blm T A 7: 80,105,165 (GRCm39) K103* probably null Het
Camta2 A G 11: 70,567,230 (GRCm39) I675T probably benign Het
Catsperz G A 19: 6,902,450 (GRCm39) R15C probably damaging Het
Chd1l T C 3: 97,510,964 (GRCm39) probably benign Het
Corin C A 5: 72,462,276 (GRCm39) E844D possibly damaging Het
Cyb5rl T G 4: 106,938,104 (GRCm39) M127R probably damaging Het
Dcdc2a A T 13: 25,286,569 (GRCm39) N164I possibly damaging Het
Dnah6 A G 6: 73,185,528 (GRCm39) probably null Het
Emilin2 T C 17: 71,562,960 (GRCm39) probably benign Het
Epb41l2 T A 10: 25,319,800 (GRCm39) V211D probably damaging Het
Fbxo47 C T 11: 97,759,427 (GRCm39) M166I probably benign Het
Golm1 T C 13: 59,786,187 (GRCm39) D335G probably damaging Het
Gpn1 T A 5: 31,660,773 (GRCm39) M188K probably damaging Het
Gpr84 T A 15: 103,217,646 (GRCm39) S144C probably damaging Het
Grm8 G T 6: 27,981,200 (GRCm39) Q237K possibly damaging Het
Hmgcr G A 13: 96,795,528 (GRCm39) T347I probably damaging Het
Hsd17b7 T A 1: 169,788,774 (GRCm39) probably benign Het
Hsd3b9 G A 3: 98,354,182 (GRCm39) Q106* probably null Het
Klhl7 T G 5: 24,364,489 (GRCm39) W508G probably damaging Het
Lrp2 C A 2: 69,258,948 (GRCm39) D4581Y probably damaging Het
Lrrc7 T C 3: 157,840,968 (GRCm39) N1357D probably benign Het
Macf1 T C 4: 123,380,451 (GRCm39) probably benign Het
Mroh7 T C 4: 106,577,692 (GRCm39) T329A probably damaging Het
Mroh9 C T 1: 162,871,552 (GRCm39) probably null Het
Mta2 A G 19: 8,926,550 (GRCm39) probably benign Het
Myo3a A T 2: 22,271,906 (GRCm39) probably benign Het
Nrip2 A G 6: 128,384,352 (GRCm39) D153G probably benign Het
Nup133 T C 8: 124,644,156 (GRCm39) probably benign Het
Nup210 C T 6: 91,019,329 (GRCm39) V259M possibly damaging Het
Or10ak14 C T 4: 118,610,816 (GRCm39) M308I probably benign Het
Or5b112 A T 19: 13,319,211 (GRCm39) I30F probably benign Het
Or9i14 A T 19: 13,792,726 (GRCm39) V76D probably damaging Het
Otog C T 7: 45,939,113 (GRCm39) R2048C probably damaging Het
Pacc1 T C 1: 191,080,632 (GRCm39) V284A probably damaging Het
Paqr7 T C 4: 134,235,124 (GRCm39) L327P probably damaging Het
Parl A G 16: 20,105,676 (GRCm39) S249P probably damaging Het
Phc1 A G 6: 122,302,833 (GRCm39) I230T probably benign Het
Pitpnm1 T G 19: 4,160,831 (GRCm39) probably null Het
Plpp1 A G 13: 112,971,477 (GRCm39) Y48C probably damaging Het
Pxdc1 A G 13: 34,812,870 (GRCm39) F194L probably benign Het
Rp1 A T 1: 4,416,159 (GRCm39) V1651D possibly damaging Het
Serpinb1c T A 13: 33,080,943 (GRCm39) R47* probably null Het
Sis T C 3: 72,853,915 (GRCm39) T521A possibly damaging Het
Slc16a9 A G 10: 70,118,308 (GRCm39) D209G probably benign Het
Slc26a4 A T 12: 31,575,567 (GRCm39) C706* probably null Het
Slc37a2 A G 9: 37,148,177 (GRCm39) V325A probably benign Het
Speg T A 1: 75,378,145 (GRCm39) D784E probably damaging Het
Sycp1 T C 3: 102,827,938 (GRCm39) I270V probably benign Het
Tatdn2 T A 6: 113,681,076 (GRCm39) F309I probably damaging Het
Tmem67 T C 4: 12,089,400 (GRCm39) probably benign Het
Trpm1 T A 7: 63,852,801 (GRCm39) probably null Het
Wrn T C 8: 33,782,714 (GRCm39) R496G probably damaging Het
Zfhx2 A G 14: 55,300,854 (GRCm39) V2299A probably benign Het
Zfp819 T A 7: 43,266,524 (GRCm39) S260T possibly damaging Het
Other mutations in Gsdmd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01351:Gsdmd APN 15 75,736,186 (GRCm39) missense probably damaging 1.00
IGL01528:Gsdmd APN 15 75,735,354 (GRCm39) missense possibly damaging 0.62
IGL03005:Gsdmd APN 15 75,739,015 (GRCm39) missense possibly damaging 0.85
gasder UTSW 15 75,736,206 (GRCm39) missense probably damaging 1.00
R0788:Gsdmd UTSW 15 75,736,103 (GRCm39) nonsense probably null
R3725:Gsdmd UTSW 15 75,737,939 (GRCm39) missense probably benign 0.05
R4585:Gsdmd UTSW 15 75,737,600 (GRCm39) splice site probably null
R4917:Gsdmd UTSW 15 75,736,241 (GRCm39) missense probably benign 0.01
R4918:Gsdmd UTSW 15 75,736,241 (GRCm39) missense probably benign 0.01
R4920:Gsdmd UTSW 15 75,736,206 (GRCm39) missense probably damaging 1.00
R5593:Gsdmd UTSW 15 75,738,856 (GRCm39) missense probably damaging 0.99
R7078:Gsdmd UTSW 15 75,736,204 (GRCm39) missense probably damaging 1.00
R7372:Gsdmd UTSW 15 75,737,618 (GRCm39) missense probably benign 0.41
R7408:Gsdmd UTSW 15 75,738,202 (GRCm39) missense probably damaging 0.97
R7612:Gsdmd UTSW 15 75,736,803 (GRCm39) missense probably damaging 1.00
R7999:Gsdmd UTSW 15 75,735,295 (GRCm39) missense probably damaging 1.00
R8197:Gsdmd UTSW 15 75,736,186 (GRCm39) missense possibly damaging 0.79
R8337:Gsdmd UTSW 15 75,736,270 (GRCm39) missense probably benign 0.01
R9025:Gsdmd UTSW 15 75,739,053 (GRCm39) missense probably benign
R9749:Gsdmd UTSW 15 75,735,411 (GRCm39) missense probably damaging 0.99
X0052:Gsdmd UTSW 15 75,737,977 (GRCm39) missense possibly damaging 0.68
Z1088:Gsdmd UTSW 15 75,735,323 (GRCm39) missense probably benign 0.00
Predicted Primers
Posted On 2015-02-04