Incidental Mutation 'IGL02247:Gm6563'
ID 286208
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm6563
Ensembl Gene ENSMUSG00000051255
Gene Name predicted pseudogene 6563
Synonyms
Accession Numbers
Essential gene? Probably essential (E-score: 0.941) question?
Stock # IGL02247
Quality Score
Status
Chromosome 19
Chromosomal Location 23653212-23653844 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 23653392 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 61 (E61K)
Ref Sequence ENSEMBL: ENSMUSP00000137244 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056396]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000056396
AA Change: E61K

PolyPhen 2 Score 0.730 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000137244
Gene: ENSMUSG00000051255
AA Change: E61K

DomainStartEndE-ValueType
SAP 8 42 2.49e-10 SMART
low complexity region 43 80 N/A INTRINSIC
internal_repeat_1 117 130 5.45e-5 PROSPERO
low complexity region 165 180 N/A INTRINSIC
internal_repeat_1 197 210 5.45e-5 PROSPERO
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl2 A G 2: 26,974,905 (GRCm39) R177G probably damaging Het
Ap3b1 T C 13: 94,531,303 (GRCm39) probably null Het
Ascc3 A C 10: 50,526,686 (GRCm39) K595T probably damaging Het
Cnpy4 A G 5: 138,191,125 (GRCm39) T234A probably benign Het
Col13a1 T C 10: 61,797,124 (GRCm39) Y101C probably damaging Het
Crybg3 A G 16: 59,323,513 (GRCm39) I2809T probably damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Dgkz T C 2: 91,767,805 (GRCm39) S824G probably benign Het
Dsg1c T A 18: 20,397,373 (GRCm39) I27N probably damaging Het
Efhb C T 17: 53,708,652 (GRCm39) V673I probably benign Het
Egr1 T C 18: 34,995,916 (GRCm39) Y233H possibly damaging Het
Fam184a T C 10: 53,551,256 (GRCm39) E237G probably damaging Het
Galt A G 4: 41,755,623 (GRCm39) probably benign Het
Gm4795 T C 10: 44,883,211 (GRCm39) noncoding transcript Het
Igkv1-133 G A 6: 67,702,590 (GRCm39) V103M probably damaging Het
Iqcb1 T A 16: 36,660,258 (GRCm39) H140Q probably benign Het
Itpk1 G T 12: 102,589,668 (GRCm39) P74Q probably damaging Het
Itpr3 T A 17: 27,317,153 (GRCm39) W803R probably damaging Het
Lgr4 A T 2: 109,832,846 (GRCm39) D312V probably benign Het
Lgr4 C T 2: 109,838,420 (GRCm39) probably benign Het
Lyst G A 13: 13,835,541 (GRCm39) C1741Y probably benign Het
Mllt6 C A 11: 97,561,158 (GRCm39) A282E probably benign Het
Mtif2 T C 11: 29,490,642 (GRCm39) S449P possibly damaging Het
Nrg3 T C 14: 38,093,269 (GRCm39) I533M probably damaging Het
Nynrin C T 14: 56,109,167 (GRCm39) Q1425* probably null Het
Or12e13 A G 2: 87,663,873 (GRCm39) I163M probably damaging Het
Or1e1f A T 11: 73,855,688 (GRCm39) M85L probably benign Het
Or4n4b T A 14: 50,536,571 (GRCm39) N65I probably damaging Het
Or4p22 C T 2: 88,317,771 (GRCm39) H232Y probably benign Het
Or56a3 T A 7: 104,735,530 (GRCm39) Y202* probably null Het
Or5b3 T A 19: 13,388,831 (GRCm39) S299R probably benign Het
Or7e175 G A 9: 20,048,516 (GRCm39) V35I probably benign Het
Plcb4 C T 2: 135,836,245 (GRCm39) T20I possibly damaging Het
Ppp1r12b G T 1: 134,763,721 (GRCm39) T771K probably benign Het
Prss22 T C 17: 24,215,363 (GRCm39) T138A probably benign Het
Ros1 A T 10: 52,005,677 (GRCm39) S907T probably damaging Het
Rtel1 T A 2: 180,993,134 (GRCm39) Y521* probably null Het
Sacs T C 14: 61,429,984 (GRCm39) F678S probably damaging Het
Smtnl1 A T 2: 84,647,372 (GRCm39) probably benign Het
Sumf2 T C 5: 129,888,986 (GRCm39) V258A probably damaging Het
Tas1r2 A T 4: 139,396,827 (GRCm39) Y722F probably damaging Het
Tecpr1 A G 5: 144,143,372 (GRCm39) F668L possibly damaging Het
Timd4 T C 11: 46,706,558 (GRCm39) F120S probably damaging Het
Tnnt3 T C 7: 142,062,062 (GRCm39) probably benign Het
Trp53bp1 G A 2: 121,067,070 (GRCm39) S552F probably damaging Het
Txlnb G A 10: 17,706,090 (GRCm39) R333Q possibly damaging Het
Txlnb A G 10: 17,717,276 (GRCm39) probably benign Het
Uroc1 A G 6: 90,324,910 (GRCm39) E461G probably benign Het
Vps45 G A 3: 95,950,236 (GRCm39) T231I probably damaging Het
Zfp648 T A 1: 154,079,923 (GRCm39) S27R probably benign Het
Other mutations in Gm6563
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01810:Gm6563 APN 19 23,653,751 (GRCm39) missense probably damaging 0.99
IGL02989:Gm6563 APN 19 23,653,234 (GRCm39) missense possibly damaging 0.82
R1274:Gm6563 UTSW 19 23,653,701 (GRCm39) missense probably benign 0.14
R4257:Gm6563 UTSW 19 23,653,339 (GRCm39) missense possibly damaging 0.78
R6048:Gm6563 UTSW 19 23,653,246 (GRCm39) missense probably benign 0.00
R8480:Gm6563 UTSW 19 23,653,290 (GRCm39) missense probably benign 0.00
R8518:Gm6563 UTSW 19 23,653,480 (GRCm39) missense probably damaging 1.00
R8730:Gm6563 UTSW 19 23,653,429 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16