Incidental Mutation 'IGL02477:Eef1akmt2'
ID 295020
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Eef1akmt2
Ensembl Gene ENSMUSG00000030960
Gene Name EEF1A lysine methyltransferase 2
Synonyms Mettl10, 2010208K18Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02477
Quality Score
Status
Chromosome 7
Chromosomal Location 132827457-132852673 bp(-) (GRCm38)
Type of Mutation splice site (6 bp from exon)
DNA Base Change (assembly) A to T at 132850589 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000113039 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033257] [ENSMUST00000120425] [ENSMUST00000124096] [ENSMUST00000152410]
AlphaFold Q9D853
Predicted Effect probably null
Transcript: ENSMUST00000033257
SMART Domains Protein: ENSMUSP00000033257
Gene: ENSMUSG00000030960

DomainStartEndE-ValueType
Pfam:Methyltransf_23 42 183 2.8e-9 PFAM
Pfam:PrmA 64 159 8.6e-7 PFAM
Pfam:Methyltransf_31 79 234 1.1e-16 PFAM
Pfam:Methyltransf_18 80 192 7.1e-16 PFAM
Pfam:Methyltransf_11 84 189 2.8e-8 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000120425
SMART Domains Protein: ENSMUSP00000113039
Gene: ENSMUSG00000030960

DomainStartEndE-ValueType
SCOP:d1f3la_ 36 96 8e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000124096
SMART Domains Protein: ENSMUSP00000130971
Gene: ENSMUSG00000030849

DomainStartEndE-ValueType
Pfam:Pkinase 1 118 4.8e-19 PFAM
Pfam:Pkinase_Tyr 1 118 1.7e-50 PFAM
low complexity region 146 160 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135932
Predicted Effect probably benign
Transcript: ENSMUST00000141920
Predicted Effect probably benign
Transcript: ENSMUST00000152410
SMART Domains Protein: ENSMUSP00000140096
Gene: ENSMUSG00000030960

DomainStartEndE-ValueType
SCOP:d1jsxa_ 36 97 8e-5 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154914
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik T A 4: 103,270,746 I61F probably benign Het
Abr T C 11: 76,461,360 K280E probably damaging Het
Acaca T C 11: 84,307,168 probably benign Het
Cep131 C T 11: 120,070,580 V582I probably damaging Het
Colec12 A G 18: 9,859,858 N613D unknown Het
Cyp4f39 A G 17: 32,489,645 T389A probably benign Het
D630003M21Rik T C 2: 158,217,488 N164S probably benign Het
Elp3 T C 14: 65,563,311 T283A probably benign Het
Fads3 C A 19: 10,056,442 P397Q probably damaging Het
Fam171a1 T C 2: 3,202,575 V198A possibly damaging Het
Fam171a2 T C 11: 102,440,028 I208M probably benign Het
Fbxw17 G A 13: 50,423,817 V119M possibly damaging Het
Gtf2ird1 G A 5: 134,379,978 T140M probably damaging Het
Hspa14 C T 2: 3,496,624 S277N probably damaging Het
Hspg2 C T 4: 137,544,512 probably benign Het
Ing2 G T 8: 47,669,268 R82S possibly damaging Het
Kat6a A G 8: 22,929,300 Y693C probably damaging Het
Kcna7 A G 7: 45,409,623 M445V probably benign Het
Lifr T G 15: 7,186,923 I793S probably damaging Het
Lrrd1 T A 5: 3,865,770 M789K probably benign Het
Myom3 T A 4: 135,779,368 L484Q probably benign Het
Nav2 T A 7: 49,582,875 M1860K probably damaging Het
Nipbl C T 15: 8,323,647 probably null Het
Nsun7 T A 5: 66,276,649 I214K probably damaging Het
Olfr181 T C 16: 58,925,763 I269M probably benign Het
Olfr898 C T 9: 38,349,125 S8L probably benign Het
Osm T A 11: 4,239,604 N129K probably damaging Het
Plce1 C T 19: 38,719,553 probably benign Het
Plch1 A G 3: 63,753,293 F302L probably damaging Het
Pld2 T C 11: 70,540,925 V27A possibly damaging Het
Prex2 A G 1: 11,204,154 D1350G probably benign Het
Psme4 T A 11: 30,842,083 V1190D probably damaging Het
Sema3g G T 14: 31,227,866 R668L probably damaging Het
Sprr2f T A 3: 92,365,897 M1K probably null Het
Sult6b2 G A 6: 142,801,721 P101S probably damaging Het
Trem3 G A 17: 48,249,836 V112I probably benign Het
Ttll9 T A 2: 153,000,197 F324I possibly damaging Het
Ttn T A 2: 76,726,760 D29967V probably damaging Het
Ubr4 A G 4: 139,436,205 K2639E probably damaging Het
Vwce T C 19: 10,664,618 probably null Het
Zbtb14 T A 17: 69,387,695 D129E probably benign Het
Zmym6 C T 4: 127,078,502 Q16* probably null Het
Other mutations in Eef1akmt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01548:Eef1akmt2 APN 7 132831405 missense probably damaging 1.00
IGL02984:Eef1akmt2 UTSW 7 132837206 makesense probably null
R0082:Eef1akmt2 UTSW 7 132851472 nonsense probably null
R3843:Eef1akmt2 UTSW 7 132831576 missense probably damaging 1.00
R5025:Eef1akmt2 UTSW 7 132851489 missense probably damaging 1.00
R6234:Eef1akmt2 UTSW 7 132827856 missense probably damaging 0.99
R8719:Eef1akmt2 UTSW 7 132850611 missense probably damaging 1.00
Posted On 2015-04-16