Incidental Mutation 'IGL03090:Eef1akmt1'
ID418344
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 #IGL03090
Quality Score
Status
Chromosome14
Chromosomal Location57549597-57571612 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 57558086 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 69 (T69A)
Ref Sequence ENSEMBL: ENSMUSP00000022518 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022518]
Predicted Effect probably damaging
Transcript: ENSMUST00000022518
AA Change: T69A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022518
Gene: ENSMUSG00000021951
AA Change: T69A

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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam20 A G 8: 40,794,928 Y25C probably benign Het
Agap3 A C 5: 24,501,206 T823P possibly damaging Het
Arap3 T C 18: 37,989,112 E641G probably benign Het
Armc6 C T 8: 70,231,354 R16Q probably benign Het
Asb15 T A 6: 24,567,186 I502K possibly damaging Het
Atp8b3 T A 10: 80,530,604 N275I probably damaging Het
BC022687 T C 12: 112,815,720 probably null Het
Calr G A 8: 84,846,744 P19S possibly damaging Het
Cdc6 T A 11: 98,919,296 L477* probably null Het
Cnnm4 A G 1: 36,471,871 D60G probably benign Het
Col12a1 G T 9: 79,678,370 Q1242K probably damaging Het
Dusp18 T A 11: 3,897,466 I152N probably damaging Het
Efhb T C 17: 53,462,930 Q117R probably benign Het
Fancd2 T A 6: 113,537,597 probably null Het
Fat3 C T 9: 16,377,239 W329* probably null Het
Frem3 A G 8: 80,618,229 Y1727C probably benign Het
Fut2 C T 7: 45,650,769 G193E possibly damaging Het
Gatb C A 3: 85,619,023 probably benign Het
Gpr33 A T 12: 52,024,026 S77T probably damaging Het
Gramd1c A T 16: 43,982,100 D649E probably benign Het
Herc2 T A 7: 56,204,473 L3745H probably damaging Het
Klk11 T A 7: 43,777,553 M87K probably benign Het
Krt39 T G 11: 99,519,007 probably benign Het
Lamc3 T A 2: 31,908,698 probably benign Het
Lars2 T G 9: 123,455,960 M786R probably damaging Het
Lmcd1 T A 6: 112,310,499 S49T probably benign Het
Lrba T C 3: 86,773,141 Y2689H probably benign Het
Map3k6 T C 4: 133,243,366 V188A probably benign Het
Mbd6 A C 10: 127,287,144 L49W probably damaging Het
Myo5a A T 9: 75,120,833 Y100F probably damaging Het
Myo9a T A 9: 59,894,135 probably benign Het
Ncoa7 T C 10: 30,662,400 D663G probably damaging Het
Nup214 A T 2: 32,018,242 M1075L probably benign Het
Pkd1l3 C A 8: 109,655,533 Y240* probably null Het
Pomk T A 8: 25,983,310 N205I probably damaging Het
Sdr16c5 A G 4: 4,006,575 probably benign Het
Setd1a A G 7: 127,786,500 E250G possibly damaging Het
Slc26a6 A G 9: 108,860,691 E541G probably benign Het
Slc4a3 A G 1: 75,555,017 E876G probably benign Het
Srrm4 A G 5: 116,449,584 probably benign Het
Stx12 A G 4: 132,863,229 V119A probably benign Het
Tmem8b T A 4: 43,689,721 S333T probably damaging Het
Usp31 T C 7: 121,679,530 probably benign Het
Utp18 T C 11: 93,868,419 R410G probably damaging Het
Vmn1r172 T C 7: 23,660,038 I116T probably damaging Het
Vwa8 T A 14: 78,934,601 L274Q possibly damaging Het
Wdfy3 A T 5: 101,866,276 F2655I probably damaging Het
Zfp423 A T 8: 87,781,443 Y737N probably damaging Het
Zyx C A 6: 42,357,342 S500* probably null Het
Other mutations in Eef1akmt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01110:Eef1akmt1 APN 14 57549790 missense probably damaging 1.00
IGL02011:Eef1akmt1 APN 14 57558098 missense probably damaging 1.00
IGL02839:Eef1akmt1 APN 14 57549781 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 On2016-08-02