Incidental Mutation 'R6043:Eef1akmt3'
ID 483675
Institutional Source Beutler Lab
Gene Symbol Eef1akmt3
Ensembl Gene ENSMUSG00000080115
Gene Name EEF1A lysine methyltransferase 3
Synonyms Gm16109, Fam119b, EG546486, Mettl21b
MMRRC Submission 044211-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.153) question?
Stock # R6043 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 126868654-126877883 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 126869147 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 109 (L109Q)
Ref Sequence ENSEMBL: ENSMUSP00000111939 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040560] [ENSMUST00000116231] [ENSMUST00000120547] [ENSMUST00000152054]
AlphaFold D3YWP0
Predicted Effect probably benign
Transcript: ENSMUST00000040560
SMART Domains Protein: ENSMUSP00000042134
Gene: ENSMUSG00000040521

DomainStartEndE-ValueType
low complexity region 38 52 N/A INTRINSIC
Pfam:EF_TS 115 273 9.6e-23 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000116231
AA Change: L109Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000111939
Gene: ENSMUSG00000080115
AA Change: L109Q

DomainStartEndE-ValueType
Pfam:Methyltransf_16 35 198 4.4e-39 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120547
SMART Domains Protein: ENSMUSP00000113446
Gene: ENSMUSG00000040521

DomainStartEndE-ValueType
Pfam:UBA 44 81 3.4e-10 PFAM
Pfam:EF_TS 101 192 1.3e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134917
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140564
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145476
Predicted Effect probably benign
Transcript: ENSMUST00000152054
SMART Domains Protein: ENSMUSP00000122669
Gene: ENSMUSG00000040521

DomainStartEndE-ValueType
Pfam:UBA 44 81 1.2e-10 PFAM
SCOP:d1efub4 101 120 5e-4 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts4 T C 1: 171,080,170 (GRCm39) F44S probably damaging Het
Ap3b1 A T 13: 94,613,501 (GRCm39) T667S probably benign Het
Camsap1 T C 2: 25,819,937 (GRCm39) Y1516C probably benign Het
Ccl17 A G 8: 95,537,100 (GRCm39) M1V probably null Het
Cfhr1 T A 1: 139,478,606 (GRCm39) T255S probably benign Het
Clcn6 T C 4: 148,093,245 (GRCm39) N812D probably damaging Het
Cyp2b10 T C 7: 25,616,764 (GRCm39) F402L probably damaging Het
Dgkz A C 2: 91,766,234 (GRCm39) S776A probably benign Het
Dnaaf2 A T 12: 69,244,122 (GRCm39) L313Q probably damaging Het
Dnah10 G A 5: 124,878,924 (GRCm39) G2728S probably damaging Het
Dnah7b T A 1: 46,178,949 (GRCm39) M874K probably benign Het
Egf A G 3: 129,530,434 (GRCm39) S243P probably benign Het
Fbxw21 T C 9: 108,974,607 (GRCm39) I304M possibly damaging Het
Fcgr4 T C 1: 170,847,699 (GRCm39) V99A probably damaging Het
Fhdc1 T C 3: 84,356,193 (GRCm39) E417G probably damaging Het
Flnc G T 6: 29,446,607 (GRCm39) G939V probably damaging Het
Herc1 A G 9: 66,315,436 (GRCm39) M1173V probably benign Het
Hspa2 C T 12: 76,453,096 (GRCm39) H597Y probably damaging Het
Itgb4 C T 11: 115,870,212 (GRCm39) T64I probably benign Het
Kif16b A G 2: 142,553,820 (GRCm39) S993P probably damaging Het
Kitl T A 10: 99,899,947 (GRCm39) V84E probably damaging Het
Klra17 A G 6: 129,849,150 (GRCm39) probably null Het
Map2k3 A G 11: 60,837,572 (GRCm39) D224G probably benign Het
Medag T G 5: 149,345,672 (GRCm39) F4V probably benign Het
Mob3b C T 4: 34,985,993 (GRCm39) V182I probably benign Het
Mvb12b G T 2: 33,764,402 (GRCm39) T49K probably damaging Het
Naaladl2 A G 3: 24,112,378 (GRCm39) V568A possibly damaging Het
Nbea T C 3: 55,693,896 (GRCm39) E2174G probably benign Het
Nmd3 T C 3: 69,652,580 (GRCm39) Y389H probably benign Het
Or13g1 A G 7: 85,955,547 (GRCm39) I258T probably damaging Het
Or4p19 C T 2: 88,242,589 (GRCm39) E138K probably benign Het
Pcare T C 17: 72,057,037 (GRCm39) D880G probably damaging Het
Pcdh1 T A 18: 38,336,327 (GRCm39) N103Y probably damaging Het
Pcm1 A G 8: 41,781,815 (GRCm39) D1905G possibly damaging Het
Plcd1 A G 9: 118,901,667 (GRCm39) F619S probably damaging Het
Ptdss1 T A 13: 67,111,433 (GRCm39) D166E probably damaging Het
Rnf213 T C 11: 119,332,927 (GRCm39) V2713A probably damaging Het
Sema4f T C 6: 82,896,634 (GRCm39) N200D probably damaging Het
Tjp1 A T 7: 64,973,837 (GRCm39) N472K probably damaging Het
Trav6n-5 T C 14: 53,342,608 (GRCm39) Y49H probably benign Het
Trbv2 A G 6: 41,024,904 (GRCm39) T107A probably benign Het
Unc13c T C 9: 73,643,933 (GRCm39) N1177S possibly damaging Het
Vmn1r212 A G 13: 23,068,258 (GRCm39) V25A probably damaging Het
Zfhx4 T G 3: 5,468,487 (GRCm39) S2882A probably benign Het
Zswim5 A C 4: 116,819,818 (GRCm39) S408R probably benign Het
Other mutations in Eef1akmt3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01763:Eef1akmt3 APN 10 126,876,952 (GRCm39) missense probably benign
IGL02346:Eef1akmt3 APN 10 126,868,805 (GRCm39) missense probably benign
R0158:Eef1akmt3 UTSW 10 126,869,142 (GRCm39) nonsense probably null
R2171:Eef1akmt3 UTSW 10 126,868,843 (GRCm39) missense probably benign 0.00
R4930:Eef1akmt3 UTSW 10 126,877,224 (GRCm39) missense possibly damaging 0.88
R5437:Eef1akmt3 UTSW 10 126,869,116 (GRCm39) missense probably damaging 1.00
R6237:Eef1akmt3 UTSW 10 126,868,877 (GRCm39) missense possibly damaging 0.78
R7206:Eef1akmt3 UTSW 10 126,876,862 (GRCm39) missense probably damaging 1.00
R7820:Eef1akmt3 UTSW 10 126,869,063 (GRCm39) missense possibly damaging 0.78
R9001:Eef1akmt3 UTSW 10 126,877,232 (GRCm39) missense probably benign 0.01
R9631:Eef1akmt3 UTSW 10 126,877,161 (GRCm39) missense probably benign 0.11
Predicted Primers PCR Primer
(F):5'- TCTTGGAGGCCAGGTAGATG -3'
(R):5'- GCTCAGGCTTTTGCTGACATC -3'

Sequencing Primer
(F):5'- CACACAGGTGTCGGAGAGTC -3'
(R):5'- CTCAGGCTTTTGCTGACATCTGATTG -3'
Posted On 2017-07-14