Incidental Mutation 'IGL03017:Poteg'
ID407932
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Poteg
Ensembl Gene ENSMUSG00000063932
Gene NamePOTE ankyrin domain family, member G
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.069) question?
Stock #IGL03017
Quality Score
Status
Chromosome8
Chromosomal Location27447670-27495172 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 27462041 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Asparagine at position 232 (K232N)
Ref Sequence ENSEMBL: ENSMUSP00000147714 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081321] [ENSMUST00000209669] [ENSMUST00000210427]
Predicted Effect probably benign
Transcript: ENSMUST00000081321
AA Change: K294N

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000080069
Gene: ENSMUSG00000063932
AA Change: K294N

DomainStartEndE-ValueType
ANK 80 109 1.46e-2 SMART
ANK 113 142 7.89e1 SMART
ANK 146 175 3.1e-6 SMART
ANK 179 208 2.81e-4 SMART
ANK 212 241 8.62e1 SMART
ANK 245 273 1.23e3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000209669
AA Change: K232N

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
Predicted Effect probably benign
Transcript: ENSMUST00000210427
AA Change: K290N

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211657
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef11 C A 3: 87,717,060 Y519* probably null Het
Arhgef26 T A 3: 62,448,281 M758K possibly damaging Het
Ccdc187 T C 2: 26,280,966 Y500C probably benign Het
Cul5 A T 9: 53,644,485 probably null Het
Dnah5 A C 15: 28,340,325 I2293L possibly damaging Het
Emilin3 G A 2: 160,908,729 Q320* probably null Het
Gpr45 C T 1: 43,032,356 T53M possibly damaging Het
Hoxd3 T A 2: 74,746,706 M310K possibly damaging Het
Mtr A G 13: 12,247,891 probably null Het
Mup4 T A 4: 59,957,890 N171I probably damaging Het
Myo15b T A 11: 115,887,917 I1157N possibly damaging Het
Myo1d C T 11: 80,601,626 V768I probably benign Het
Nlrp4c T C 7: 6,084,680 C771R probably benign Het
Olfr390 C A 11: 73,787,518 H193Q probably benign Het
Patj G A 4: 98,465,027 probably benign Het
Pkp3 C A 7: 141,083,370 A376D probably benign Het
Pkp4 T C 2: 59,266,425 V57A probably benign Het
Psat1 G T 19: 15,917,135 A168E possibly damaging Het
Rassf8 T A 6: 145,817,198 probably null Het
Slc37a3 T A 6: 39,349,381 I281L probably benign Het
Sncaip A T 18: 52,894,937 H466L possibly damaging Het
Ttn T C 2: 76,787,116 E16337G probably damaging Het
Ttn T C 2: 76,868,302 T30A possibly damaging Het
Usp13 G A 3: 32,915,712 M662I possibly damaging Het
Vmn2r111 A T 17: 22,570,858 M389K probably damaging Het
Vmn2r39 A C 7: 9,014,941 Y799D probably damaging Het
Other mutations in Poteg
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01086:Poteg APN 8 27473620 splice site probably benign
IGL01964:Poteg APN 8 27448008 missense probably damaging 0.99
R0034:Poteg UTSW 8 27462077 splice site probably benign
R0069:Poteg UTSW 8 27447821 missense probably benign 0.33
R0069:Poteg UTSW 8 27447821 missense probably benign 0.33
R0522:Poteg UTSW 8 27449958 missense possibly damaging 0.95
R0634:Poteg UTSW 8 27473587 missense probably benign 0.20
R0971:Poteg UTSW 8 27447939 missense probably damaging 1.00
R1019:Poteg UTSW 8 27447824 missense possibly damaging 0.46
R1450:Poteg UTSW 8 27447843 missense probably benign 0.27
R1603:Poteg UTSW 8 27448005 start codon destroyed probably null 0.56
R1650:Poteg UTSW 8 27463785 missense probably benign 0.04
R1656:Poteg UTSW 8 27495032 intron probably benign
R1818:Poteg UTSW 8 27450167 nonsense probably null
R2048:Poteg UTSW 8 27456746 missense probably benign 0.39
R2847:Poteg UTSW 8 27481676 missense probably benign 0.10
R2848:Poteg UTSW 8 27481676 missense probably benign 0.10
R2849:Poteg UTSW 8 27481676 missense probably benign 0.10
R4493:Poteg UTSW 8 27480097 missense possibly damaging 0.68
R4967:Poteg UTSW 8 27494981 intron probably benign
R5051:Poteg UTSW 8 27453329 missense possibly damaging 0.78
R5149:Poteg UTSW 8 27481643 missense possibly damaging 0.93
R5579:Poteg UTSW 8 27448037 missense probably damaging 1.00
R5594:Poteg UTSW 8 27447968 missense probably benign 0.28
R5723:Poteg UTSW 8 27449992 critical splice donor site probably null
R5804:Poteg UTSW 8 27456798 missense probably damaging 1.00
R6685:Poteg UTSW 8 27447905 missense possibly damaging 0.91
R6911:Poteg UTSW 8 27450298 missense probably damaging 0.97
R7044:Poteg UTSW 8 27449895 missense probably damaging 1.00
R7096:Poteg UTSW 8 27473567 missense probably benign 0.00
R7174:Poteg UTSW 8 27453277 missense probably benign 0.36
R7287:Poteg UTSW 8 27453344 missense probably null 0.44
R7560:Poteg UTSW 8 27494960 missense probably benign
R7875:Poteg UTSW 8 27449914 missense probably benign 0.04
R7958:Poteg UTSW 8 27449914 missense probably benign 0.04
X0063:Poteg UTSW 8 27450154 missense probably damaging 1.00
Z1176:Poteg UTSW 8 27447954 missense not run
Posted On2016-08-02