Incidental Mutation 'IGL00897:Gsdme'
ID27578
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 #IGL00897
Quality Score
Status
Chromosome6
Chromosomal Location50188888-50263862 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 50229284 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000126759 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031845] [ENSMUST00000101405] [ENSMUST00000165099] [ENSMUST00000170142]
Predicted Effect probably null
Transcript: ENSMUST00000031845
SMART Domains Protein: ENSMUSP00000031845
Gene: ENSMUSG00000029821

DomainStartEndE-ValueType
Pfam:Gasdermin 1 473 4.8e-167 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000101405
SMART Domains Protein: ENSMUSP00000098952
Gene: ENSMUSG00000029821

DomainStartEndE-ValueType
Pfam:Gasdermin 1 399 2e-126 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000165099
SMART Domains Protein: ENSMUSP00000130522
Gene: ENSMUSG00000029821

DomainStartEndE-ValueType
Pfam:Gasdermin 1 424 1.7e-136 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000170142
SMART Domains Protein: ENSMUSP00000126759
Gene: ENSMUSG00000029821

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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 T C 7: 120,216,125 probably benign Het
Arsi A G 18: 60,912,430 Y64C probably damaging Het
Ascc3 A T 10: 50,728,091 E1302D probably benign Het
Aspm T C 1: 139,477,407 I1344T probably damaging Het
Atp2b1 T C 10: 99,015,020 I924T possibly damaging Het
Ccnb1 A G 13: 100,785,911 probably benign Het
Cps1 A G 1: 67,215,564 D1304G probably benign Het
Ctsq C A 13: 61,037,725 V201F probably damaging Het
Epb41 T A 4: 132,000,197 probably null Het
Fam196b T C 11: 34,403,011 V351A probably benign Het
Fat2 T C 11: 55,289,252 E1421G probably damaging Het
Flt1 T A 5: 147,589,854 Y873F probably benign Het
Fos C T 12: 85,476,346 T344I probably damaging Het
Gm11639 G A 11: 105,100,021 D293N probably damaging Het
Inpp5d A G 1: 87,712,114 T846A probably benign Het
Kdm4c T C 4: 74,373,684 M846T probably damaging Het
Lrp2 A G 2: 69,521,881 F604L possibly damaging Het
Mab21l3 C A 3: 101,823,455 R156L probably damaging Het
Mrps9 A G 1: 42,905,459 E379G probably damaging Het
Myo16 T C 8: 10,315,518 L119P probably damaging Het
Neurod2 C T 11: 98,327,769 V190M probably damaging Het
Nprl2 T G 9: 107,545,528 N371K probably benign Het
Nr1d2 A T 14: 18,214,993 C340S probably benign Het
Nsg1 A T 5: 38,144,716 V117D probably damaging Het
Olfr818 A T 10: 129,945,911 D50E possibly damaging Het
Olfr859 T G 9: 19,808,621 V101G probably damaging Het
Paqr4 T C 17: 23,737,570 D273G possibly damaging Het
Plcb4 A G 2: 135,971,798 T686A probably benign Het
Ppp1r8 G A 4: 132,827,902 A335V probably damaging Het
Slc4a2 T A 5: 24,429,559 Y65* probably null Het
Slco3a1 A T 7: 74,504,183 Y214N probably damaging Het
Tmem232 T C 17: 65,256,574 E608G possibly damaging Het
Vmn1r169 A T 7: 23,577,594 Y137F probably damaging Het
Vmn2r97 T C 17: 18,947,659 I725T probably benign Het
Vmn2r98 T A 17: 19,065,745 probably benign Het
Other mutations in Gsdme
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01462:Gsdme APN 6 50227374 missense possibly damaging 0.94
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 On2013-04-17