Incidental Mutation 'R5811:Gsdme'
ID 447514
Institutional Source Beutler Lab
Gene Symbol Gsdme
Ensembl Gene ENSMUSG00000029821
Gene Name gasdermin E
Synonyms Dfna5h, Fin15, 2310037D07Rik, Dfna5, 4932441K13Rik
MMRRC Submission 043213-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5811 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 50167013-50240837 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 50222925 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 130 (Q130L)
Ref Sequence ENSEMBL: ENSMUSP00000126759 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031845] [ENSMUST00000101405] [ENSMUST00000165099] [ENSMUST00000167893] [ENSMUST00000170142]
AlphaFold Q9Z2D3
Predicted Effect probably benign
Transcript: ENSMUST00000031845
AA Change: Q130L

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000031845
Gene: ENSMUSG00000029821
AA Change: Q130L

DomainStartEndE-ValueType
Pfam:Gasdermin 1 473 4.8e-167 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000101405
AA Change: Q130L

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000098952
Gene: ENSMUSG00000029821
AA Change: Q130L

DomainStartEndE-ValueType
Pfam:Gasdermin 1 399 2e-126 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000165099
AA Change: Q130L

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000130522
Gene: ENSMUSG00000029821
AA Change: Q130L

DomainStartEndE-ValueType
Pfam:Gasdermin 1 424 1.7e-136 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000167893
SMART Domains Protein: ENSMUSP00000132062
Gene: ENSMUSG00000029821

DomainStartEndE-ValueType
Pfam:Gasdermin 1 123 5.3e-51 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000170142
AA Change: Q130L

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000126759
Gene: ENSMUSG00000029821
AA Change: Q130L

DomainStartEndE-ValueType
Pfam:Gasdermin 1 473 2.3e-149 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Hearing impairment is a heterogeneous condition with over 40 loci described. The protein encoded by this gene is expressed in fetal cochlea, however, its function is not known. Nonsyndromic hearing impairment is associated with a mutation in this gene. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display abnormal numbers of cochlear hair cell but have normal hearing. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Btnl1 A T 17: 34,604,503 (GRCm39) K428M probably damaging Het
Chid1 G A 7: 141,110,166 (GRCm39) T53M probably damaging Het
Clnk A G 5: 38,870,490 (GRCm39) V356A probably damaging Het
Cryba4 C T 5: 112,398,937 (GRCm39) V36I probably benign Het
Dct A G 14: 118,250,600 (GRCm39) V466A probably benign Het
Dnmt3l A G 10: 77,887,929 (GRCm39) D146G possibly damaging Het
Epas1 A G 17: 87,131,203 (GRCm39) N328D probably damaging Het
Fat4 C T 3: 38,945,936 (GRCm39) R1610W probably damaging Het
Filip1l T C 16: 57,390,657 (GRCm39) V415A probably damaging Het
Garnl3 A G 2: 32,896,911 (GRCm39) L576P probably damaging Het
Gjd3 A T 11: 98,873,226 (GRCm39) V206E possibly damaging Het
Gpr135 A T 12: 72,116,641 (GRCm39) D375E possibly damaging Het
Hcls1 A G 16: 36,777,702 (GRCm39) M274V probably null Het
Kcnn4 T C 7: 24,077,030 (GRCm39) V193A probably damaging Het
Kctd16 T C 18: 40,391,505 (GRCm39) V31A probably damaging Het
Lamc2 C T 1: 153,041,999 (GRCm39) R45Q possibly damaging Het
Lrrc66 T A 5: 73,772,860 (GRCm39) I203F possibly damaging Het
Mark4 T C 7: 19,182,564 (GRCm39) D91G probably damaging Het
Mcm6 A T 1: 128,263,465 (GRCm39) probably benign Het
Mecom C T 3: 30,015,149 (GRCm39) S602N probably benign Het
Muc5ac T C 7: 141,352,721 (GRCm39) V736A possibly damaging Het
Nr2e3 TCCATCGGAGTGTTCCC TC 9: 59,850,701 (GRCm39) probably benign Het
Or2h2c C A 17: 37,422,649 (GRCm39) C75F probably benign Het
Pdia5 A T 16: 35,269,790 (GRCm39) M173K possibly damaging Het
Pih1d2 T C 9: 50,532,374 (GRCm39) L144P probably damaging Het
Plch2 C T 4: 155,077,024 (GRCm39) E577K possibly damaging Het
Samd4b T C 7: 28,107,445 (GRCm39) S275G probably damaging Het
Sap130 T C 18: 31,822,495 (GRCm39) V668A probably benign Het
Sema3c T A 5: 17,880,188 (GRCm39) probably null Het
Slc9a8 C T 2: 167,313,307 (GRCm39) R390* probably null Het
Vmn2r89 A T 14: 51,693,565 (GRCm39) N305I probably benign Het
Wdr33 T C 18: 32,035,673 (GRCm39) F1164L unknown Het
Zfp873 T A 10: 81,896,567 (GRCm39) C470S probably damaging Het
Other mutations in Gsdme
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00897:Gsdme APN 6 50,206,264 (GRCm39) critical splice donor site probably null
IGL01462:Gsdme APN 6 50,204,354 (GRCm39) missense possibly damaging 0.94
IGL01645:Gsdme APN 6 50,228,316 (GRCm39) missense probably damaging 1.00
IGL01836:Gsdme APN 6 50,199,769 (GRCm39) missense probably damaging 1.00
R0060:Gsdme UTSW 6 50,198,009 (GRCm39) missense possibly damaging 0.73
R0060:Gsdme UTSW 6 50,198,009 (GRCm39) missense possibly damaging 0.73
R0110:Gsdme UTSW 6 50,223,107 (GRCm39) splice site probably benign
R0396:Gsdme UTSW 6 50,198,087 (GRCm39) missense probably benign 0.00
R0510:Gsdme UTSW 6 50,223,107 (GRCm39) splice site probably benign
R0627:Gsdme UTSW 6 50,206,259 (GRCm39) splice site probably benign
R1350:Gsdme UTSW 6 50,223,108 (GRCm39) splice site probably null
R1992:Gsdme UTSW 6 50,185,102 (GRCm39) missense probably damaging 1.00
R2869:Gsdme UTSW 6 50,185,157 (GRCm39) nonsense probably null
R2869:Gsdme UTSW 6 50,185,157 (GRCm39) nonsense probably null
R2973:Gsdme UTSW 6 50,206,304 (GRCm39) missense probably damaging 1.00
R2974:Gsdme UTSW 6 50,206,304 (GRCm39) missense probably damaging 1.00
R3154:Gsdme UTSW 6 50,228,343 (GRCm39) missense probably damaging 0.99
R3816:Gsdme UTSW 6 50,196,391 (GRCm39) missense probably benign 0.41
R3818:Gsdme UTSW 6 50,196,391 (GRCm39) missense probably benign 0.41
R3819:Gsdme UTSW 6 50,196,391 (GRCm39) missense probably benign 0.41
R4035:Gsdme UTSW 6 50,206,428 (GRCm39) missense possibly damaging 0.50
R4519:Gsdme UTSW 6 50,206,333 (GRCm39) missense probably damaging 1.00
R4669:Gsdme UTSW 6 50,185,102 (GRCm39) missense probably damaging 1.00
R4678:Gsdme UTSW 6 50,206,304 (GRCm39) missense possibly damaging 0.87
R5009:Gsdme UTSW 6 50,222,992 (GRCm39) missense possibly damaging 0.64
R5370:Gsdme UTSW 6 50,206,286 (GRCm39) missense probably damaging 0.98
R5768:Gsdme UTSW 6 50,196,280 (GRCm39) nonsense probably null
R5975:Gsdme UTSW 6 50,204,339 (GRCm39) missense probably benign 0.30
R6032:Gsdme UTSW 6 50,222,934 (GRCm39) missense probably damaging 1.00
R6032:Gsdme UTSW 6 50,222,934 (GRCm39) missense probably damaging 1.00
R6035:Gsdme UTSW 6 50,206,306 (GRCm39) missense probably damaging 0.99
R6035:Gsdme UTSW 6 50,206,306 (GRCm39) missense probably damaging 0.99
R6089:Gsdme UTSW 6 50,228,285 (GRCm39) missense probably damaging 0.99
R6565:Gsdme UTSW 6 50,206,429 (GRCm39) missense probably damaging 0.97
R6862:Gsdme UTSW 6 50,204,378 (GRCm39) missense probably damaging 1.00
R7169:Gsdme UTSW 6 50,204,358 (GRCm39) missense probably benign 0.00
R7720:Gsdme UTSW 6 50,206,288 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCCTGGACTAAATCTTCCCAC -3'
(R):5'- CAGTGGTTGTGGAGTCAGAC -3'

Sequencing Primer
(F):5'- CGAGTCAATTTAAGAGCCTATGACC -3'
(R):5'- TGTGGAGTCAGACTTCGTGAAATAC -3'
Posted On 2016-12-15