Incidental Mutation 'IGL02650:Gm3252'
ID 302095
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm3252
Ensembl Gene ENSMUSG00000094628
Gene Name predicted gene 3252
Synonyms
Accession Numbers
Essential gene? Not available question?
Stock # IGL02650
Quality Score
Status
Chromosome 14
Chromosomal Location 17722280-17742998 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 4746353 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 215 (V215E)
Ref Sequence ENSEMBL: ENSMUSP00000129533 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000165619] [ENSMUST00000178748]
AlphaFold E9PUT9
Predicted Effect probably damaging
Transcript: ENSMUST00000165619
AA Change: V215E

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000129533
Gene: ENSMUSG00000094628
AA Change: V215E

DomainStartEndE-ValueType
Pfam:Takusan 57 140 2e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000178748
SMART Domains Protein: ENSMUSP00000137178
Gene: ENSMUSG00000094628

DomainStartEndE-ValueType
Pfam:Takusan 1 74 1.9e-27 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik A G 2: 68,571,881 (GRCm39) T586A probably benign Het
Acads G T 5: 115,250,874 (GRCm39) T141N probably benign Het
Ankmy1 C T 1: 92,808,745 (GRCm39) R721H probably damaging Het
Appl1 A G 14: 26,672,665 (GRCm39) V236A possibly damaging Het
Arhgef5 C T 6: 43,249,869 (GRCm39) Q207* probably null Het
Atp2a3 C A 11: 72,866,165 (GRCm39) H262N probably benign Het
Atp6v0a2 G T 5: 124,789,426 (GRCm39) probably benign Het
Cenpf T C 1: 189,384,670 (GRCm39) K2537E possibly damaging Het
Cox7a1 A T 7: 29,884,562 (GRCm39) E32V possibly damaging Het
Dis3 A T 14: 99,336,221 (GRCm39) M95K probably benign Het
Dnah5 A T 15: 28,289,193 (GRCm39) probably benign Het
Dock10 T A 1: 80,551,840 (GRCm39) Y665F probably damaging Het
Dynlt5 C A 4: 102,845,803 (GRCm39) Q12K probably benign Het
Ghsr A T 3: 27,429,004 (GRCm39) Q343L probably benign Het
Gm9979 A G 13: 40,859,225 (GRCm39) noncoding transcript Het
Grik2 A T 10: 48,977,331 (GRCm39) M867K probably benign Het
Grm7 A G 6: 111,335,919 (GRCm39) T777A probably damaging Het
Hc T A 2: 34,890,886 (GRCm39) Q1310L possibly damaging Het
Ifi44 A G 3: 151,451,492 (GRCm39) F205L probably damaging Het
Igkv4-86 T C 6: 68,887,617 (GRCm39) I40V probably benign Het
Jag1 T C 2: 136,957,505 (GRCm39) D69G possibly damaging Het
Lrch1 T C 14: 75,051,138 (GRCm39) D333G probably damaging Het
Mapre3 T A 5: 31,022,053 (GRCm39) I187N probably damaging Het
Myo15b T C 11: 115,777,337 (GRCm39) probably null Het
Nanos2 C T 7: 18,721,794 (GRCm39) P89S probably damaging Het
Or4c109 T A 2: 88,818,424 (GRCm39) M41L probably benign Het
Parp16 G A 9: 65,141,098 (GRCm39) V223I probably damaging Het
Rnf123 A G 9: 107,946,947 (GRCm39) M231T probably benign Het
Suco C A 1: 161,676,322 (GRCm39) probably benign Het
Synj1 G T 16: 90,773,584 (GRCm39) T459N probably benign Het
Taf4b C T 18: 14,975,040 (GRCm39) Q732* probably null Het
Tas2r102 A G 6: 132,739,173 (GRCm39) N27S probably null Het
Tll1 C T 8: 64,500,031 (GRCm39) probably benign Het
Vmn1r168 A G 7: 23,240,916 (GRCm39) I258V probably benign Het
Vmn2r71 T A 7: 85,273,535 (GRCm39) M783K probably damaging Het
Vmn2r98 G A 17: 19,301,223 (GRCm39) V742I probably benign Het
Other mutations in Gm3252
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02226:Gm3252 APN 14 4,743,741 (GRCm38) missense possibly damaging 0.95
R8783:Gm3252 UTSW 14 4,743,761 (GRCm38) missense probably benign
Posted On 2015-04-16