Incidental Mutation 'R1301:Gsdmd'
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Institutional Source Beutler Lab
Gene Symbol Gsdmd
Ensembl Gene ENSMUSG00000022575
Gene Namegasdermin D
SynonymsM2-4, Dfna5l, DF5L, 1810036L03Rik, Gsdmdc1
MMRRC Submission 039367-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R1301 (G1)
Quality Score225
Status Not validated
Chromosomal Location75862327-75867408 bp(+) (GRCm38)
Type of Mutationsynonymous
DNA Base Change (assembly) C to A at 75867059 bp
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000023238 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023238] [ENSMUST00000229331] [ENSMUST00000230514]
Predicted Effect probably null
Transcript: ENSMUST00000023238
SMART Domains Protein: ENSMUSP00000023238
Gene: ENSMUSG00000022575

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
Ano1 A G 7: 144,633,689 W447R possibly damaging Het
Blm T A 7: 80,455,417 K103* probably null Het
Camta2 A G 11: 70,676,404 I675T probably benign Het
Catsperz G A 19: 6,925,082 R15C probably damaging Het
Chd1l T C 3: 97,603,648 probably benign Het
Corin C A 5: 72,304,933 E844D possibly damaging Het
Cyb5rl T G 4: 107,080,907 M127R probably damaging Het
Dcdc2a A T 13: 25,102,586 N164I possibly damaging Het
Dnah6 A G 6: 73,208,545 probably null Het
Emilin2 T C 17: 71,255,965 probably benign Het
Epb41l2 T A 10: 25,443,902 V211D probably damaging Het
Fbxo47 C T 11: 97,868,601 M166I probably benign Het
Gm13124 T A 4: 144,565,065 I24L probably benign Het
Gm4450 G A 3: 98,446,866 Q106* probably null Het
Golm1 T C 13: 59,638,373 D335G probably damaging Het
Gpn1 T A 5: 31,503,429 M188K probably damaging Het
Gpr84 T A 15: 103,309,219 S144C probably damaging Het
Grm8 G T 6: 27,981,201 Q237K possibly damaging Het
Hmgcr G A 13: 96,659,020 T347I probably damaging Het
Hsd17b7 T A 1: 169,961,205 probably benign Het
Klhl7 T G 5: 24,159,491 W508G probably damaging Het
Lrp2 C A 2: 69,428,604 D4581Y probably damaging Het
Lrrc7 T C 3: 158,135,331 N1357D probably benign Het
Macf1 T C 4: 123,486,658 probably benign Het
Mroh7 T C 4: 106,720,495 T329A probably damaging Het
Mroh9 C T 1: 163,043,983 probably null Het
Mta2 A G 19: 8,949,186 probably benign Het
Myo3a A T 2: 22,267,095 probably benign Het
Nrip2 A G 6: 128,407,389 D153G probably benign Het
Nup133 T C 8: 123,917,417 probably benign Het
Nup210 C T 6: 91,042,347 V259M possibly damaging Het
Olfr1338 C T 4: 118,753,619 M308I probably benign Het
Olfr1466 A T 19: 13,341,847 I30F probably benign Het
Olfr1499 A T 19: 13,815,362 V76D probably damaging Het
Otog C T 7: 46,289,689 R2048C probably damaging Het
Paqr7 T C 4: 134,507,813 L327P probably damaging Het
Parl A G 16: 20,286,926 S249P probably damaging Het
Phc1 A G 6: 122,325,874 I230T probably benign Het
Pitpnm1 T G 19: 4,110,831 probably null Het
Plpp1 A G 13: 112,834,943 Y48C probably damaging Het
Pxdc1 A G 13: 34,628,887 F194L probably benign Het
Rp1 A T 1: 4,345,936 V1651D possibly damaging Het
Serpinb1c T A 13: 32,896,960 R47* probably null Het
Sis T C 3: 72,946,582 T521A possibly damaging Het
Slc16a9 A G 10: 70,282,478 D209G probably benign Het
Slc26a4 A T 12: 31,525,568 C706* probably null Het
Slc37a2 A G 9: 37,236,881 V325A probably benign Het
Speg T A 1: 75,401,501 D784E probably damaging Het
Sycp1 T C 3: 102,920,622 I270V probably benign Het
Tatdn2 T A 6: 113,704,115 F309I probably damaging Het
Tmem206 T C 1: 191,348,435 V284A probably damaging Het
Tmem67 T C 4: 12,089,400 probably benign Het
Trpm1 T A 7: 64,203,053 probably null Het
Wrn T C 8: 33,292,686 R496G probably damaging Het
Zfhx2 A G 14: 55,063,397 V2299A probably benign Het
Zfp819 T A 7: 43,617,100 S260T possibly damaging Het
Other mutations in Gsdmd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01351:Gsdmd APN 15 75864337 missense probably damaging 1.00
IGL01528:Gsdmd APN 15 75863505 missense possibly damaging 0.62
IGL03005:Gsdmd APN 15 75867166 missense possibly damaging 0.85
gasder UTSW 15 75864357 missense probably damaging 1.00
R0788:Gsdmd UTSW 15 75864254 nonsense probably null
R3725:Gsdmd UTSW 15 75866090 missense probably benign 0.05
R4585:Gsdmd UTSW 15 75865751 splice site probably null
R4917:Gsdmd UTSW 15 75864392 missense probably benign 0.01
R4918:Gsdmd UTSW 15 75864392 missense probably benign 0.01
R4920:Gsdmd UTSW 15 75864357 missense probably damaging 1.00
R5593:Gsdmd UTSW 15 75867007 missense probably damaging 0.99
X0052:Gsdmd UTSW 15 75866128 missense possibly damaging 0.68
Z1088:Gsdmd UTSW 15 75863474 missense probably benign 0.00
Predicted Primers
Posted On2015-02-04