Incidental Mutation 'IGL01110:Eef1akmt1'
ID52688
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Eef1akmt1
Ensembl Gene ENSMUSG00000021951
Gene NameEEF1A alpha lysine methyltransferase 1
SynonymsAyu21-96, N6amt2, Gt(Ayu21)96Imeg, GtAyu21-96, 2510005D08Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01110
Quality Score
Status
Chromosome14
Chromosomal Location57549597-57571612 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 57549790 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Valine at position 210 (F210V)
Ref Sequence ENSEMBL: ENSMUSP00000022518 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022518]
Predicted Effect probably damaging
Transcript: ENSMUST00000022518
AA Change: F210V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022518
Gene: ENSMUSG00000021951
AA Change: F210V

DomainStartEndE-ValueType
Pfam:N6-adenineMlase 59 218 7.3e-66 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225504
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bbs1 G A 19: 4,892,925 S479L possibly damaging Het
Capn6 G T X: 143,807,250 P385H probably damaging Het
Cavin1 C A 11: 100,970,474 probably benign Het
Cdh9 A G 15: 16,855,926 D684G possibly damaging Het
Dlgap5 A G 14: 47,394,326 probably benign Het
Doc2g A G 19: 4,006,577 E321G probably damaging Het
Eya1 A G 1: 14,283,130 S65P probably damaging Het
Gpx8 C T 13: 113,045,684 V72I probably benign Het
Gria1 A G 11: 57,289,381 E650G probably damaging Het
Hic1 A T 11: 75,165,519 L848Q possibly damaging Het
Mmp1b C T 9: 7,384,921 D243N probably benign Het
Mov10l1 G T 15: 89,021,257 V872L probably benign Het
Olfr1099 C T 2: 86,958,921 C179Y possibly damaging Het
Olfr150 T C 9: 39,737,397 V194A probably benign Het
Otof A G 5: 30,461,725 F25S probably damaging Het
Patj A C 4: 98,413,024 N182T probably damaging Het
Pik3r6 G A 11: 68,528,826 probably null Het
Ppil6 G A 10: 41,498,410 V96I probably benign Het
Sardh T A 2: 27,215,113 Q666L probably benign Het
Tasp1 A G 2: 139,977,618 S222P probably damaging Het
Tln2 G T 9: 67,250,582 C1158* probably null Het
Zfp707 T A 15: 75,975,195 C292S probably damaging Het
Zfp956 A G 6: 47,963,412 E235G probably benign Het
Other mutations in Eef1akmt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02011:Eef1akmt1 APN 14 57558098 missense probably damaging 1.00
IGL02839:Eef1akmt1 APN 14 57549781 missense probably damaging 1.00
IGL03090:Eef1akmt1 APN 14 57558086 missense probably damaging 1.00
R1383:Eef1akmt1 UTSW 14 57558032 critical splice donor site probably null
R1447:Eef1akmt1 UTSW 14 57565984 nonsense probably null
R1994:Eef1akmt1 UTSW 14 57550454 missense probably benign 0.02
R3026:Eef1akmt1 UTSW 14 57550434 missense probably damaging 1.00
R4582:Eef1akmt1 UTSW 14 57550448 missense probably damaging 1.00
R4921:Eef1akmt1 UTSW 14 57550632 missense probably damaging 0.97
R5071:Eef1akmt1 UTSW 14 57566007 missense probably damaging 1.00
R5073:Eef1akmt1 UTSW 14 57566007 missense probably damaging 1.00
R6112:Eef1akmt1 UTSW 14 57549873 missense possibly damaging 0.91
R7578:Eef1akmt1 UTSW 14 57549871 missense probably damaging 1.00
Posted On2013-06-21