Incidental Mutation 'R3816:Gsdme'
ID 274302
Institutional Source Beutler Lab
Gene Symbol Gsdme
Ensembl Gene ENSMUSG00000029821
Gene Name gasdermin E
Synonyms Dfna5h, Fin15, 2310037D07Rik, Dfna5, 4932441K13Rik
MMRRC Submission 040881-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3816 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 50167013-50240837 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 50196391 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 340 (S340A)
Ref Sequence ENSEMBL: ENSMUSP00000126759 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031845] [ENSMUST00000101405] [ENSMUST00000165099] [ENSMUST00000170142]
AlphaFold Q9Z2D3
Predicted Effect probably benign
Transcript: ENSMUST00000031845
AA Change: S340A

PolyPhen 2 Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000031845
Gene: ENSMUSG00000029821
AA Change: S340A

DomainStartEndE-ValueType
Pfam:Gasdermin 1 473 4.8e-167 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000101405
AA Change: S340A

PolyPhen 2 Score 0.353 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000098952
Gene: ENSMUSG00000029821
AA Change: S340A

DomainStartEndE-ValueType
Pfam:Gasdermin 1 399 2e-126 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000165099
AA Change: S340A

PolyPhen 2 Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000130522
Gene: ENSMUSG00000029821
AA Change: S340A

DomainStartEndE-ValueType
Pfam:Gasdermin 1 424 1.7e-136 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000170142
AA Change: S340A

PolyPhen 2 Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000126759
Gene: ENSMUSG00000029821
AA Change: S340A

DomainStartEndE-ValueType
Pfam:Gasdermin 1 473 2.3e-149 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.7%
  • 20x: 96.2%
Validation Efficiency 100% (62/62)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aak1 T C 6: 86,936,024 (GRCm39) probably benign Het
Abca2 A G 2: 25,336,083 (GRCm39) Y2151C probably damaging Het
Adamts3 T A 5: 89,853,123 (GRCm39) H509L probably damaging Het
Agfg2 T C 5: 137,652,036 (GRCm39) D441G probably benign Het
Arl8b T A 6: 108,790,658 (GRCm39) V65D probably damaging Het
As3mt A T 19: 46,696,216 (GRCm39) D8V probably benign Het
Ass1 G T 2: 31,400,117 (GRCm39) probably benign Het
Cdc42bpa A G 1: 179,972,451 (GRCm39) I634V possibly damaging Het
Cflar T C 1: 58,791,582 (GRCm39) V298A probably benign Het
Csmd1 C T 8: 16,052,522 (GRCm39) A2201T probably damaging Het
Cyp4a12b A T 4: 115,289,667 (GRCm39) D178V probably damaging Het
Dlec1 C T 9: 118,953,911 (GRCm39) A610V probably damaging Het
Dock1 C T 7: 134,346,015 (GRCm39) R186* probably null Het
E130018O15Rik T C 5: 35,540,110 (GRCm39) noncoding transcript Het
Gabrg3 G A 7: 57,031,412 (GRCm39) Q43* probably null Het
Gipc2 T C 3: 151,871,481 (GRCm39) K15R probably benign Het
Gjb2 A G 14: 57,337,530 (GRCm39) V226A probably benign Het
Glipr2 G T 4: 43,977,522 (GRCm39) A51S possibly damaging Het
H2-M10.2 A T 17: 36,597,254 (GRCm39) Y20* probably null Het
Hapstr1 T A 16: 8,648,358 (GRCm39) I12N probably damaging Het
Hlcs A G 16: 93,933,947 (GRCm39) V242A probably benign Het
Ifi44 T C 3: 151,454,894 (GRCm39) I110M possibly damaging Het
Il18r1 T C 1: 40,526,132 (GRCm39) probably benign Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Khk T C 5: 31,084,060 (GRCm39) S80P probably damaging Het
Ly9 G T 1: 171,416,653 (GRCm39) T537N possibly damaging Het
Muc4 C A 16: 32,754,529 (GRCm38) H1468N probably benign Het
Myo1g A G 11: 6,460,926 (GRCm39) V706A probably benign Het
Npat T C 9: 53,481,216 (GRCm39) S1008P probably damaging Het
Or2ag18 A G 7: 106,405,027 (GRCm39) I214T probably damaging Het
Or5p59 A G 7: 107,702,705 (GRCm39) Y63C possibly damaging Het
Or8b12c C T 9: 37,715,465 (GRCm39) S86L probably benign Het
Or8b40 A T 9: 38,027,922 (GRCm39) T277S possibly damaging Het
Or8b55 A G 9: 38,727,722 (GRCm39) K308E possibly damaging Het
Pcdha2 A G 18: 37,074,748 (GRCm39) Y793C probably benign Het
Pcdhb4 A T 18: 37,441,065 (GRCm39) D125V probably damaging Het
Pdgfrb A G 18: 61,212,017 (GRCm39) D844G probably damaging Het
Phf3 T C 1: 30,844,834 (GRCm39) D1375G probably damaging Het
Pigu A T 2: 155,141,063 (GRCm39) F276I probably damaging Het
Pomgnt1 T A 4: 116,011,139 (GRCm39) probably null Het
Psmd9 C T 5: 123,372,653 (GRCm39) probably benign Het
Rac2 T C 15: 78,450,199 (GRCm39) D47G possibly damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Sall1 G T 8: 89,759,303 (GRCm39) A267E probably benign Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Serpina3k A G 12: 104,307,221 (GRCm39) E151G probably benign Het
Skint5 A G 4: 113,486,319 (GRCm39) probably benign Het
Slc51b A G 9: 65,321,300 (GRCm39) probably benign Het
Sorl1 A G 9: 41,975,345 (GRCm39) L487P possibly damaging Het
Sspo A T 6: 48,458,037 (GRCm39) E3269V possibly damaging Het
Star G A 8: 26,299,905 (GRCm39) M82I probably benign Het
Tnfrsf11a C T 1: 105,737,085 (GRCm39) T64I probably damaging Het
Top2b T G 14: 16,409,189 (GRCm38) I777M probably damaging Het
Usp32 A G 11: 84,885,210 (GRCm39) probably null Het
Vmn2r18 T C 5: 151,485,148 (GRCm39) N782S probably benign Het
Vwa3a A G 7: 120,399,602 (GRCm39) T1028A probably benign Het
Xrn2 G A 2: 146,870,120 (GRCm39) G270R probably damaging Het
Zbbx G T 3: 74,992,802 (GRCm39) Q231K probably benign 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
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
R5811:Gsdme UTSW 6 50,222,925 (GRCm39) missense probably benign 0.02
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'- AACACTATTTCCCAGCCCTG -3'
(R):5'- AAAAGGGCTCAGTGCTTGC -3'

Sequencing Primer
(F):5'- GGTTTCCATACCTGCTAGTGCG -3'
(R):5'- AAAAGGGCTCAGTGCTTGCTTTAC -3'
Posted On 2015-04-02