Incidental Mutation 'R5444:Eef2kmt'
ID 427364
Institutional Source Beutler Lab
Gene Symbol Eef2kmt
Ensembl Gene ENSMUSG00000022544
Gene Name eukaryotic elongation factor 2 lysine methyltransferase
Synonyms Fam86, 5730409G15Rik
MMRRC Submission 043009-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5444 (G1)
Quality Score 151
Status Validated
Chromosome 16
Chromosomal Location 5062019-5073820 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) G to A at 5066959 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000123572 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049207] [ENSMUST00000064635] [ENSMUST00000100196] [ENSMUST00000139584]
AlphaFold Q3UZW7
Predicted Effect probably benign
Transcript: ENSMUST00000049207
SMART Domains Protein: ENSMUSP00000046534
Gene: ENSMUSG00000039427

DomainStartEndE-ValueType
transmembrane domain 5 23 N/A INTRINSIC
Pfam:Glycos_transf_1 246 422 8e-14 PFAM
Pfam:Glyco_trans_1_4 250 400 1.4e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000064635
SMART Domains Protein: ENSMUSP00000068003
Gene: ENSMUSG00000022544

DomainStartEndE-ValueType
Pfam:FAM86 6 99 2.7e-42 PFAM
Pfam:Methyltransf_16 119 299 2.9e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000100196
SMART Domains Protein: ENSMUSP00000097770
Gene: ENSMUSG00000039427

DomainStartEndE-ValueType
transmembrane domain 5 23 N/A INTRINSIC
Pfam:Glycos_transf_1 270 447 2.4e-13 PFAM
Pfam:Glyco_trans_1_4 276 426 1.5e-24 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129729
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132225
Predicted Effect probably benign
Transcript: ENSMUST00000139584
SMART Domains Protein: ENSMUSP00000123572
Gene: ENSMUSG00000022544

DomainStartEndE-ValueType
Pfam:FAM86 1 100 2.7e-62 PFAM
Pfam:Methyltransf_16 119 299 2e-23 PFAM
low complexity region 311 322 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140718
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230238
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.1%
Validation Efficiency 99% (66/67)
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930584F24Rik A G 5: 26,684,735 (GRCm39) noncoding transcript Het
Adam11 A G 11: 102,663,674 (GRCm39) Q284R probably damaging Het
Adamts17 T A 7: 66,691,647 (GRCm39) H610Q probably benign Het
Alg6 A G 4: 99,629,816 (GRCm39) Y131C probably benign Het
Apol9b T C 15: 77,619,963 (GRCm39) I253T probably damaging Het
Asb4 T A 6: 5,431,040 (GRCm39) I425N probably damaging Het
Atic T C 1: 71,615,876 (GRCm39) L474P probably damaging Het
B3glct C T 5: 149,669,985 (GRCm39) T318I probably damaging Het
Bbs7 T C 3: 36,666,199 (GRCm39) K22E possibly damaging Het
Cdk17 T G 10: 93,053,823 (GRCm39) probably null Het
Cemip T A 7: 83,631,499 (GRCm39) T438S probably damaging Het
Chd2 T C 7: 73,122,833 (GRCm39) E967G probably damaging Het
Cyp2d26 G T 15: 82,676,739 (GRCm39) D202E probably benign Het
Dhdds G A 4: 133,698,447 (GRCm39) R295* probably null Het
Fn3krp G A 11: 121,312,430 (GRCm39) probably null Het
Gjc3 G A 5: 137,955,809 (GRCm39) L159F probably damaging Het
Gm28434 T C 5: 88,127,147 (GRCm39) probably benign Het
Gp2 G A 7: 119,053,821 (GRCm39) P47S possibly damaging Het
Irf7 C T 7: 140,844,732 (GRCm39) probably benign Het
Itgb8 T C 12: 119,201,573 (GRCm39) probably benign Het
Kcnb2 A T 1: 15,781,716 (GRCm39) I863F probably benign Het
Lamb1 T C 12: 31,348,908 (GRCm39) F647L possibly damaging Het
Mccc1 T A 3: 36,030,891 (GRCm39) M392L probably benign Het
Mtmr10 T C 7: 63,938,149 (GRCm39) probably null Het
Ncstn A C 1: 171,900,406 (GRCm39) V223G possibly damaging Het
Neurl3 G T 1: 36,308,571 (GRCm39) F80L probably damaging Het
Nf1 T C 11: 79,334,785 (GRCm39) M869T possibly damaging Het
Nfatc2 A G 2: 168,376,810 (GRCm39) probably benign Het
Nnat T C 2: 157,403,137 (GRCm39) F26S possibly damaging Het
Nos1ap T C 1: 170,202,820 (GRCm39) Y109C probably damaging Het
Nup205 T A 6: 35,166,124 (GRCm39) D194E probably damaging Het
Or10ak11 T A 4: 118,687,308 (GRCm39) I109L probably benign Het
Or3a4 T C 11: 73,944,803 (GRCm39) S261G probably benign Het
Or52k2 C T 7: 102,254,076 (GRCm39) R172* probably null Het
Or5b109 A T 19: 13,212,322 (GRCm39) Q236L probably benign Het
Or9g3 A T 2: 85,590,263 (GRCm39) F152L probably benign Het
Ostf1 A G 19: 18,558,677 (GRCm39) L202S probably benign Het
Pdzrn4 T A 15: 92,668,806 (GRCm39) M747K probably damaging Het
Plxnb1 A G 9: 108,935,521 (GRCm39) D1019G probably benign Het
Pnlip A G 19: 58,661,595 (GRCm39) I95V probably benign Het
Polr3a T C 14: 24,505,009 (GRCm39) I1084V possibly damaging Het
Ppp1r13b T A 12: 111,805,122 (GRCm39) T197S probably benign Het
Rasgrp3 A T 17: 75,810,370 (GRCm39) I357F probably damaging Het
Rbmxl2 G C 7: 106,809,044 (GRCm39) G110R probably damaging Het
Relch C T 1: 105,654,109 (GRCm39) T826I possibly damaging Het
Rgs22 T C 15: 36,015,773 (GRCm39) D1037G possibly damaging Het
Rnf215 A G 11: 4,085,843 (GRCm39) I107M probably benign Het
Rybp A T 6: 100,264,231 (GRCm39) M3K probably damaging Het
Sgo2b T C 8: 64,379,590 (GRCm39) S1081G possibly damaging Het
Slfn10-ps C T 11: 82,926,113 (GRCm39) noncoding transcript Het
Spag17 T C 3: 99,963,468 (GRCm39) V1062A probably benign Het
Sult2a1 A T 7: 13,569,944 (GRCm39) I96K possibly damaging Het
Tbc1d5 A G 17: 51,042,995 (GRCm39) I831T probably damaging Het
Thbs3 T C 3: 89,130,692 (GRCm39) probably benign Het
Tmub2 T C 11: 102,179,066 (GRCm39) L255S possibly damaging Het
Trank1 T A 9: 111,222,026 (GRCm39) L2921Q probably benign Het
Trappc14 A T 5: 138,259,260 (GRCm39) probably null Het
Tuba8 A T 6: 121,203,060 (GRCm39) probably benign Het
Vmn2r25 T C 6: 123,805,451 (GRCm39) I469V probably benign Het
Zfp1007 A T 5: 109,823,502 (GRCm39) Y649* probably null Het
Other mutations in Eef2kmt
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2259:Eef2kmt UTSW 16 5,063,172 (GRCm39) missense probably benign 0.30
R2267:Eef2kmt UTSW 16 5,073,804 (GRCm39) start gained probably benign
R4036:Eef2kmt UTSW 16 5,063,135 (GRCm39) missense probably damaging 0.98
R4037:Eef2kmt UTSW 16 5,063,135 (GRCm39) missense probably damaging 0.98
R4038:Eef2kmt UTSW 16 5,063,135 (GRCm39) missense probably damaging 0.98
R4088:Eef2kmt UTSW 16 5,070,899 (GRCm39) missense probably damaging 1.00
R4836:Eef2kmt UTSW 16 5,066,867 (GRCm39) missense probably damaging 0.98
R4974:Eef2kmt UTSW 16 5,066,876 (GRCm39) missense probably benign 0.14
R5023:Eef2kmt UTSW 16 5,065,463 (GRCm39) missense probably damaging 1.00
R5282:Eef2kmt UTSW 16 5,063,222 (GRCm39) missense probably benign 0.27
R5635:Eef2kmt UTSW 16 5,066,893 (GRCm39) missense probably damaging 0.99
R6616:Eef2kmt UTSW 16 5,065,346 (GRCm39) missense probably damaging 0.98
R7320:Eef2kmt UTSW 16 5,068,373 (GRCm39) missense possibly damaging 0.93
R7343:Eef2kmt UTSW 16 5,065,299 (GRCm39) missense probably damaging 0.98
R9613:Eef2kmt UTSW 16 5,067,272 (GRCm39) missense possibly damaging 0.90
Predicted Primers PCR Primer
(F):5'- AGGCTGCTGGGTTCTCAATG -3'
(R):5'- GCTATTTGCTGGTATGAAACATGAGTG -3'

Sequencing Primer
(F):5'- GGGTTCTCAATGGCCCATTCTG -3'
(R):5'- ACTCTTCTCTGTGACTGGGTCTAAAG -3'
Posted On 2016-09-01