Incidental Mutation 'IGL02011:Eef1akmt1'
ID183367
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 #IGL02011
Quality Score
Status
Chromosome14
Chromosomal Location57549597-57571612 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 57558098 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Asparagine at position 65 (Y65N)
Ref Sequence ENSEMBL: ENSMUSP00000022518 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022518]
Predicted Effect probably damaging
Transcript: ENSMUST00000022518
AA Change: Y65N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022518
Gene: ENSMUSG00000021951
AA Change: Y65N

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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap5m1 T A 14: 49,081,135 probably benign Het
Arg1 T C 10: 24,916,377 T215A probably benign Het
Arhgap15 A T 2: 43,780,755 K50N probably damaging Het
Ctdsp1 C T 1: 74,394,016 probably benign Het
Cwc22 A T 2: 77,921,022 D363E possibly damaging Het
Drd2 G T 9: 49,406,958 C400F probably damaging Het
Gbp10 C A 5: 105,221,101 G291W probably damaging Het
Lrit1 T A 14: 37,062,323 V536E probably damaging Het
Olfr1411 T A 1: 92,596,899 Y127N probably damaging Het
Olfr464 C A 11: 87,914,882 W8L probably benign Het
Olfr599 G T 7: 103,338,849 R265L probably damaging Het
Pcdh12 C T 18: 38,281,420 G884D probably damaging Het
Pih1d1 G T 7: 45,156,732 A31S probably damaging Het
Plcxd2 T C 16: 45,965,091 D317G probably damaging Het
Prkaca T C 8: 83,990,936 F231S probably damaging Het
Raet1d T A 10: 22,371,574 I183K probably damaging Het
Scaper A G 9: 55,580,322 F752S probably damaging Het
Shisa9 C T 16: 12,244,638 T241I possibly damaging Het
Taar9 C T 10: 24,108,579 R319H possibly damaging Het
Unkl T A 17: 25,218,591 V365E probably damaging Het
Usp34 C T 11: 23,471,554 S3077F probably damaging Het
Vps16 A G 2: 130,441,479 I566V probably benign Het
Vrk2 T A 11: 26,471,717 T414S probably benign Het
Xpnpep1 A T 19: 53,002,465 probably benign Het
Zfp804a A G 2: 82,256,691 Q288R probably damaging Het
Other mutations in Eef1akmt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01110:Eef1akmt1 APN 14 57549790 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 On2014-05-07