Incidental Mutation 'IGL01462:Gsdme'
ID88009
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gsdme
Ensembl Gene ENSMUSG00000029821
Gene Namegasdermin E
Synonyms4932441K13Rik, Dfna5h, Dfna5, Fin15, 2310037D07Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01462
Quality Score
Status
Chromosome6
Chromosomal Location50188888-50263862 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 50227374 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 201 (V201A)
Ref Sequence ENSEMBL: ENSMUSP00000126759 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031845] [ENSMUST00000101405] [ENSMUST00000165099] [ENSMUST00000170142]
Predicted Effect possibly damaging
Transcript: ENSMUST00000031845
AA Change: V201A

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000031845
Gene: ENSMUSG00000029821
AA Change: V201A

DomainStartEndE-ValueType
Pfam:Gasdermin 1 473 4.8e-167 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000101405
AA Change: V201A

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000098952
Gene: ENSMUSG00000029821
AA Change: V201A

DomainStartEndE-ValueType
Pfam:Gasdermin 1 399 2e-126 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000165099
AA Change: V201A

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000130522
Gene: ENSMUSG00000029821
AA Change: V201A

DomainStartEndE-ValueType
Pfam:Gasdermin 1 424 1.7e-136 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000170142
AA Change: V201A

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000126759
Gene: ENSMUSG00000029821
AA Change: V201A

DomainStartEndE-ValueType
Pfam:Gasdermin 1 473 2.3e-149 PFAM
Coding Region Coverage
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts9 C A 6: 92,894,266 A30S probably benign Het
Aspg A G 12: 112,122,953 T392A probably benign Het
Atp8b5 C A 4: 43,368,010 Q878K possibly damaging Het
Ccdc85a G T 11: 28,576,506 H339Q probably damaging Het
Clca1 C T 3: 145,007,778 M697I probably benign Het
Cog4 C T 8: 110,866,085 T430M probably benign Het
Col6a5 A G 9: 105,946,075 Y28H unknown Het
Cth A T 3: 157,905,167 Y343N probably damaging Het
Dctn3 A T 4: 41,719,854 L84* probably null Het
Epha5 A T 5: 84,071,233 I868N probably damaging Het
Ephb2 T C 4: 136,771,370 N133D possibly damaging Het
Epor G A 9: 21,959,456 P376L probably damaging Het
Hdgf G A 3: 87,914,524 E149K possibly damaging Het
Lrrfip2 T C 9: 111,205,849 probably null Het
Ly6g6d T C 17: 35,074,250 I40V probably benign Het
Mlh3 G A 12: 85,266,736 T892I probably benign Het
Mmp19 C T 10: 128,798,142 T304I probably damaging Het
Mmp28 T C 11: 83,443,776 D384G possibly damaging Het
Moxd1 T C 10: 24,244,388 probably null Het
Ncapg T C 5: 45,671,135 V76A probably benign Het
Nos1 C T 5: 117,867,709 R165C probably benign Het
Olfr376 T C 11: 73,374,752 M1T probably null Het
Olfr47 A G 6: 43,235,625 T6A possibly damaging Het
Pik3c2a T A 7: 116,376,250 H694L possibly damaging Het
Psme2 A G 14: 55,589,671 L60P probably damaging Het
Ptpn23 A G 9: 110,408,107 V4A probably benign Het
Rgr G T 14: 37,044,609 T160K probably damaging Het
Serpind1 A G 16: 17,336,923 I205V probably benign Het
Skap2 T C 6: 51,921,300 Y150C probably damaging Het
Soga3 T G 10: 29,148,258 L390R probably damaging Het
Srsf9 T C 5: 115,332,128 S122P probably damaging Het
Stox1 T G 10: 62,664,682 I700L probably benign Het
Tada1 A G 1: 166,388,725 D165G probably damaging Het
Traf5 A G 1: 191,999,867 S338P probably benign Het
Trim39 G A 17: 36,263,725 probably benign Het
Wbp2 G A 11: 116,081,240 A130V possibly damaging Het
Zcchc17 T C 4: 130,337,109 K96E probably benign Het
Zfp800 G A 6: 28,242,984 L661F possibly damaging Het
Other mutations in Gsdme
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00897:Gsdme APN 6 50229284 critical splice donor site probably null
IGL01645:Gsdme APN 6 50251336 missense probably damaging 1.00
IGL01836:Gsdme APN 6 50222789 missense probably damaging 1.00
R0060:Gsdme UTSW 6 50221029 missense possibly damaging 0.73
R0060:Gsdme UTSW 6 50221029 missense possibly damaging 0.73
R0110:Gsdme UTSW 6 50246127 splice site probably benign
R0396:Gsdme UTSW 6 50221107 missense probably benign 0.00
R0510:Gsdme UTSW 6 50246127 splice site probably benign
R0627:Gsdme UTSW 6 50229279 splice site probably benign
R1350:Gsdme UTSW 6 50246128 splice site probably null
R1992:Gsdme UTSW 6 50208122 missense probably damaging 1.00
R2869:Gsdme UTSW 6 50208177 nonsense probably null
R2869:Gsdme UTSW 6 50208177 nonsense probably null
R2973:Gsdme UTSW 6 50229324 missense probably damaging 1.00
R2974:Gsdme UTSW 6 50229324 missense probably damaging 1.00
R3154:Gsdme UTSW 6 50251363 missense probably damaging 0.99
R3816:Gsdme UTSW 6 50219411 missense probably benign 0.41
R3818:Gsdme UTSW 6 50219411 missense probably benign 0.41
R3819:Gsdme UTSW 6 50219411 missense probably benign 0.41
R4035:Gsdme UTSW 6 50229448 missense possibly damaging 0.50
R4519:Gsdme UTSW 6 50229353 missense probably damaging 1.00
R4669:Gsdme UTSW 6 50208122 missense probably damaging 1.00
R4678:Gsdme UTSW 6 50229324 missense possibly damaging 0.87
R5009:Gsdme UTSW 6 50246012 missense possibly damaging 0.64
R5370:Gsdme UTSW 6 50229306 missense probably damaging 0.98
R5768:Gsdme UTSW 6 50219300 nonsense probably null
R5811:Gsdme UTSW 6 50245945 missense probably benign 0.02
R5975:Gsdme UTSW 6 50227359 missense probably benign 0.30
R6032:Gsdme UTSW 6 50245954 missense probably damaging 1.00
R6032:Gsdme UTSW 6 50245954 missense probably damaging 1.00
R6035:Gsdme UTSW 6 50229326 missense probably damaging 0.99
R6035:Gsdme UTSW 6 50229326 missense probably damaging 0.99
R6089:Gsdme UTSW 6 50251305 missense probably damaging 0.99
R6565:Gsdme UTSW 6 50229449 missense probably damaging 0.97
R6862:Gsdme UTSW 6 50227398 missense probably damaging 1.00
R7169:Gsdme UTSW 6 50227378 missense probably benign 0.00
R7720:Gsdme UTSW 6 50229308 missense probably damaging 1.00
Posted On2013-11-18