Incidental Mutation 'R7169:Gsdme'
ID 558114
Institutional Source Beutler Lab
Gene Symbol Gsdme
Ensembl Gene ENSMUSG00000029821
Gene Name gasdermin E
Synonyms Dfna5h, Fin15, 2310037D07Rik, Dfna5, 4932441K13Rik
MMRRC Submission 045229-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7169 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 50167013-50240837 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 50204358 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 200 (T200A)
Ref Sequence ENSEMBL: ENSMUSP00000031845 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031845] [ENSMUST00000101405] [ENSMUST00000165099] [ENSMUST00000170142]
AlphaFold Q9Z2D3
Predicted Effect probably benign
Transcript: ENSMUST00000031845
AA Change: T200A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000031845
Gene: ENSMUSG00000029821
AA Change: T200A

DomainStartEndE-ValueType
Pfam:Gasdermin 1 473 4.8e-167 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000101405
AA Change: T200A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000098952
Gene: ENSMUSG00000029821
AA Change: T200A

DomainStartEndE-ValueType
Pfam:Gasdermin 1 399 2e-126 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000165099
AA Change: T200A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000130522
Gene: ENSMUSG00000029821
AA Change: T200A

DomainStartEndE-ValueType
Pfam:Gasdermin 1 424 1.7e-136 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000170142
AA Change: T200A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000126759
Gene: ENSMUSG00000029821
AA Change: T200A

DomainStartEndE-ValueType
Pfam:Gasdermin 1 473 2.3e-149 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts14 A G 10: 61,040,707 (GRCm39) V870A probably damaging Het
Ahi1 T G 10: 20,930,918 (GRCm39) D919E probably damaging Het
Angptl6 T A 9: 20,786,475 (GRCm39) R390S probably damaging Het
Arhgef11 A G 3: 87,634,755 (GRCm39) I873V possibly damaging Het
BC024063 T C 10: 81,946,293 (GRCm39) Y638H possibly damaging Het
Brsk1 T C 7: 4,718,403 (GRCm39) S751P probably benign Het
Calhm5 T A 10: 33,968,160 (GRCm39) T298S probably damaging Het
Cdh20 G A 1: 104,875,078 (GRCm39) A287T possibly damaging Het
Clic3 G A 2: 25,348,731 (GRCm39) R237H probably benign Het
Cog6 G T 3: 52,897,387 (GRCm39) P562H possibly damaging Het
Csnk2a2 A G 8: 96,215,006 (GRCm39) Y24H Het
Ctif T C 18: 75,605,087 (GRCm39) D484G probably damaging Het
Cyria A G 12: 12,409,233 (GRCm39) D71G possibly damaging Het
Dennd6b A T 15: 89,073,055 (GRCm39) F161I possibly damaging Het
Dnah14 G T 1: 181,529,930 (GRCm39) V2235L probably benign Het
Dnah6 A T 6: 73,015,729 (GRCm39) V3636D probably damaging Het
Dpm1 A T 2: 168,053,343 (GRCm39) Y207* probably null Het
Eml3 A G 19: 8,910,828 (GRCm39) T227A probably damaging Het
Enpp5 G A 17: 44,396,155 (GRCm39) G356S probably damaging Het
Eppk1 C A 15: 75,990,114 (GRCm39) A2256S probably benign Het
Etnppl A T 3: 130,414,345 (GRCm39) N80I probably damaging Het
Eya4 A T 10: 23,031,845 (GRCm39) N236K probably benign Het
Gm12886 T G 4: 121,273,948 (GRCm39) Q89H probably damaging Het
Hipk1 C T 3: 103,651,533 (GRCm39) A1122T probably benign Het
Icos A G 1: 61,034,705 (GRCm39) D176G probably damaging Het
Igkv5-43 T A 6: 69,800,519 (GRCm39) Y56F probably damaging Het
Il1r1 T C 1: 40,332,519 (GRCm39) probably null Het
Ildr2 G A 1: 166,135,503 (GRCm39) probably null Het
Ilf3 T A 9: 21,306,722 (GRCm39) H305Q probably damaging Het
Insrr A G 3: 87,715,901 (GRCm39) H532R probably benign Het
Lmbr1l CACTACATACTACATACTACATACTACATACTACATACTACATAC CACTACATACTACATACTACATACTACATACTACATACTACATACTACATAC 15: 98,807,039 (GRCm39) probably null Het
Lmbr1l ACTACAT ACTACATGCTACAT 15: 98,807,075 (GRCm39) probably benign Het
Lratd1 A G 12: 14,200,619 (GRCm39) F36S probably damaging Het
Lrrc25 T G 8: 71,070,437 (GRCm39) S73A probably benign Het
Lrrn1 T C 6: 107,544,565 (GRCm39) L121P probably damaging Het
Ly6c1 C A 15: 74,916,495 (GRCm39) V116L probably benign Het
Meltf A G 16: 31,698,980 (GRCm39) D30G probably benign Het
Mroh7 T A 4: 106,548,836 (GRCm39) D1009V probably damaging Het
Mybpc3 T C 2: 90,948,524 (GRCm39) V4A possibly damaging Het
Mycbp2 A G 14: 103,497,636 (GRCm39) S979P possibly damaging Het
Ntn5 C T 7: 45,336,198 (GRCm39) R210* probably null Het
Nuak1 T C 10: 84,210,609 (GRCm39) D493G probably damaging Het
Oprk1 T A 1: 5,659,304 (GRCm39) D11E probably benign Het
Or13a1 G T 6: 116,471,025 (GRCm39) A152S probably benign Het
Or4f14 A G 2: 111,742,939 (GRCm39) M112T possibly damaging Het
Or4k37 T A 2: 111,158,943 (GRCm39) Y60N probably damaging Het
Or56a41 T C 7: 104,740,397 (GRCm39) I150V possibly damaging Het
Pkd1l2 T A 8: 117,767,574 (GRCm39) T1239S possibly damaging Het
Pkm A G 9: 59,578,908 (GRCm39) D296G possibly damaging Het
Pof1b A G X: 111,554,042 (GRCm39) I544T probably benign Het
Pop5 T A 5: 115,378,287 (GRCm39) V77E possibly damaging Het
Ppp1r10 T C 17: 36,240,365 (GRCm39) S552P probably damaging Het
Rabggta C G 14: 55,958,358 (GRCm39) R101P probably damaging Het
Rorc A T 3: 94,296,487 (GRCm39) E243V probably benign Het
Setmar C A 6: 108,042,049 (GRCm39) A3E possibly damaging Het
Skor2 T A 18: 76,948,681 (GRCm39) V801E probably benign Het
Slc12a7 G A 13: 73,932,679 (GRCm39) V56M probably benign Het
Snph T A 2: 151,436,307 (GRCm39) N207I probably damaging Het
Snx14 A G 9: 88,280,362 (GRCm39) V531A probably damaging Het
Thap1 CAGCATCTGCTCGGAGCA CAGCA 8: 26,650,884 (GRCm39) probably null Het
Tlr3 A T 8: 45,850,056 (GRCm39) M871K probably damaging Het
Tnfrsf11a A T 1: 105,772,421 (GRCm39) R569S possibly damaging Het
Trim66 A G 7: 109,054,328 (GRCm39) V1294A probably benign Het
Vldlr G A 19: 27,221,728 (GRCm39) V698I probably benign Het
Vmn2r73 G A 7: 85,507,663 (GRCm39) Q550* probably null Het
Zdhhc5 A T 2: 84,532,675 (GRCm39) probably null Het
Zfhx3 T A 8: 109,678,030 (GRCm39) Y3027N possibly damaging Het
Zfp663 C T 2: 165,194,359 (GRCm39) S620N 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
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
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
R7720:Gsdme UTSW 6 50,206,288 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCAGATCCTAGACACTCCGC -3'
(R):5'- TTGGTTCCATTAATCACAGCAC -3'

Sequencing Primer
(F):5'- GATCCTAGACACTCCGCTACCC -3'
(R):5'- ATATGGTATGTTGTTGCCAAAGC -3'
Posted On 2019-06-26