Incidental Mutation 'IGL02650:Gm3252'
ID302095
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm3252
Ensembl Gene ENSMUSG00000094628
Gene Namepredicted gene 3252
Synonyms
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL02650
Quality Score
Status
Chromosome14
Chromosomal Location4726775-4747493 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 4746353 bp
ZygosityHeterozygous
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]
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: 68,741,537 T586A probably benign Het
Acads G T 5: 115,112,815 T141N probably benign Het
Ankmy1 C T 1: 92,881,023 R721H probably damaging Het
Appl1 A G 14: 26,950,708 V236A possibly damaging Het
Arhgef5 C T 6: 43,272,935 Q207* probably null Het
Atp2a3 C A 11: 72,975,339 H262N probably benign Het
Atp6v0a2 G T 5: 124,712,362 probably benign Het
Cenpf T C 1: 189,652,473 K2537E possibly damaging Het
Cox7a1 A T 7: 30,185,137 E32V possibly damaging Het
Dis3 A T 14: 99,098,785 M95K probably benign Het
Dnah5 A T 15: 28,289,047 probably benign Het
Dock10 T A 1: 80,574,123 Y665F probably damaging Het
Ghsr A T 3: 27,374,855 Q343L probably benign Het
Gm9979 A G 13: 40,705,749 noncoding transcript Het
Grik2 A T 10: 49,101,235 M867K probably benign Het
Grm7 A G 6: 111,358,958 T777A probably damaging Het
Hc T A 2: 35,000,874 Q1310L possibly damaging Het
Ifi44 A G 3: 151,745,855 F205L probably damaging Het
Igkv4-86 T C 6: 68,910,633 I40V probably benign Het
Jag1 T C 2: 137,115,585 D69G possibly damaging Het
Lrch1 T C 14: 74,813,698 D333G probably damaging Het
Mapre3 T A 5: 30,864,709 I187N probably damaging Het
Myo15b T C 11: 115,886,511 probably null Het
Nanos2 C T 7: 18,987,869 P89S probably damaging Het
Olfr1214 T A 2: 88,988,080 M41L probably benign Het
Parp16 G A 9: 65,233,816 V223I probably damaging Het
Rnf123 A G 9: 108,069,748 M231T probably benign Het
Suco C A 1: 161,848,753 probably benign Het
Synj1 G T 16: 90,976,696 T459N probably benign Het
Taf4b C T 18: 14,841,983 Q732* probably null Het
Tas2r102 A G 6: 132,762,210 N27S probably null Het
Tctex1d1 C A 4: 102,988,606 Q12K probably benign Het
Tll1 C T 8: 64,046,997 probably benign Het
Vmn1r168 A G 7: 23,541,491 I258V probably benign Het
Vmn2r71 T A 7: 85,624,327 M783K probably damaging Het
Vmn2r98 G A 17: 19,080,961 V742I probably benign Het
Other mutations in Gm3252
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02226:Gm3252 APN 14 4743741 missense possibly damaging 0.95
Posted On2015-04-16