Incidental Mutation 'R4088:Eef2kmt'
ID 317485
Institutional Source Beutler Lab
Gene Symbol Eef2kmt
Ensembl Gene ENSMUSG00000022544
Gene Name eukaryotic elongation factor 2 lysine methyltransferase
Synonyms Fam86, 5730409G15Rik
MMRRC Submission 040981-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4088 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 5062019-5073820 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 5070899 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 50 (I50N)
Ref Sequence ENSEMBL: ENSMUSP00000123572 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064635] [ENSMUST00000139584]
AlphaFold Q3UZW7
Predicted Effect probably damaging
Transcript: ENSMUST00000064635
AA Change: I50N

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000068003
Gene: ENSMUSG00000022544
AA Change: I50N

DomainStartEndE-ValueType
Pfam:FAM86 6 99 2.7e-42 PFAM
Pfam:Methyltransf_16 119 299 2.9e-24 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129729
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132225
Predicted Effect probably damaging
Transcript: ENSMUST00000139584
AA Change: I50N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123572
Gene: ENSMUSG00000022544
AA Change: I50N

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: ENSMUST00000140000
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140718
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230238
Meta Mutation Damage Score 0.8375 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.5%
Validation Efficiency 96% (55/57)
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430110L20Rik T C 1: 181,055,274 (GRCm39) noncoding transcript Het
Alox12b G T 11: 69,049,211 (GRCm39) V87L probably benign Het
Arsk T G 13: 76,246,533 (GRCm39) N32T probably benign Het
Baz1b T A 5: 135,245,794 (GRCm39) N414K probably damaging Het
Cacna1e A T 1: 154,287,929 (GRCm39) probably null Het
Cdc73 A G 1: 143,484,252 (GRCm39) probably benign Het
Cdhr2 A G 13: 54,865,701 (GRCm39) D233G probably null Het
Cep250 G A 2: 155,834,552 (GRCm39) R2159K probably damaging Het
Col4a4 T A 1: 82,501,643 (GRCm39) Y370F unknown Het
Cyp2b9 T C 7: 25,872,881 (GRCm39) L8P probably damaging Het
Ddx4 A G 13: 112,750,295 (GRCm39) V386A probably benign Het
Dnajc28 G A 16: 91,413,755 (GRCm39) T187M probably damaging Het
Dnajc6 T A 4: 101,496,593 (GRCm39) V920E probably damaging Het
Esyt3 T C 9: 99,206,290 (GRCm39) M40V probably benign Het
Gkn3 C T 6: 87,360,507 (GRCm39) A163T probably damaging Het
Gpr26 G T 7: 131,568,805 (GRCm39) C50F probably benign Het
Hmcn1 A G 1: 150,578,967 (GRCm39) I1993T possibly damaging Het
Hsdl2 T A 4: 59,610,636 (GRCm39) L211Q unknown Het
Khdrbs2 A G 1: 32,372,605 (GRCm39) E93G probably damaging Het
Kif13b T C 14: 65,004,904 (GRCm39) probably null Het
Kif15 T A 9: 122,815,254 (GRCm39) L423I probably benign Het
Kmt2c A G 5: 25,492,711 (GRCm39) V834A probably benign Het
Lama3 T A 18: 12,637,365 (GRCm39) Y28* probably null Het
Map4k2 A T 19: 6,403,186 (GRCm39) H763L probably damaging Het
Mrtfb T C 16: 13,202,064 (GRCm39) F120S probably damaging Het
Ndufs3 C T 2: 90,728,689 (GRCm39) probably benign Het
Nfasc A T 1: 132,523,329 (GRCm39) V887E probably damaging Het
Npsr1 G A 9: 24,225,065 (GRCm39) E358K possibly damaging Het
Nrcam T C 12: 44,618,985 (GRCm39) L828P possibly damaging Het
Oprm1 T C 10: 6,780,234 (GRCm39) Y299H probably damaging Het
Or1j15 T A 2: 36,459,030 (GRCm39) L140H probably damaging Het
Osbpl8 T C 10: 111,125,651 (GRCm39) V777A possibly damaging Het
Pcnt T C 10: 76,263,848 (GRCm39) E372G probably damaging Het
Plekhh2 T C 17: 84,925,427 (GRCm39) V1408A probably benign Het
Sbk2 T C 7: 4,960,627 (GRCm39) Y181C probably damaging Het
Sf1 G A 19: 6,418,470 (GRCm39) probably null Het
Slc26a9 A G 1: 131,695,587 (GRCm39) E765G possibly damaging Het
Stab2 A G 10: 86,758,049 (GRCm39) L1073P probably damaging Het
Sypl2 A G 3: 108,124,992 (GRCm39) I123T possibly damaging Het
Taar3 A G 10: 23,825,757 (GRCm39) D101G possibly damaging Het
Thsd4 T C 9: 59,904,505 (GRCm39) R204G probably benign Het
Traf3ip3 A G 1: 192,863,628 (GRCm39) V414A probably damaging Het
Trim14 T A 4: 46,523,709 (GRCm39) T110S probably benign Het
Trim65 G A 11: 116,017,305 (GRCm39) Q386* probably null Het
Ttn G A 2: 76,748,114 (GRCm39) Q4312* probably null Het
Ubtfl1 T C 9: 18,321,264 (GRCm39) V264A probably damaging Het
Vmn1r58 C A 7: 5,413,654 (GRCm39) W192L probably damaging Het
Washc5 C A 15: 59,211,711 (GRCm39) C969F probably damaging Het
Zdhhc14 A G 17: 5,777,131 (GRCm39) K296R probably benign Het
Zfp281 T A 1: 136,553,859 (GRCm39) I279N probably damaging Het
Zfp9 G T 6: 118,441,730 (GRCm39) P311T probably damaging 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
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
R5444:Eef2kmt UTSW 16 5,066,959 (GRCm39) intron probably benign
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'- CCTCATCTCGTGCAGTTTAAATTAG -3'
(R):5'- GCCCGTGACATTAGAGCAAG -3'

Sequencing Primer
(F):5'- ATGCCTATGGGTAATGCC -3'
(R):5'- GACATTAGAGCAAGTTCACCTCTGG -3'
Posted On 2015-05-15