Incidental Mutation 'R6112:Eef1akmt1'
ID484923
Institutional Source Beutler Lab
Gene Symbol Eef1akmt1
Ensembl Gene ENSMUSG00000021951
Gene NameEEF1A alpha lysine methyltransferase 1
SynonymsAyu21-96, N6amt2, Gt(Ayu21)96Imeg, GtAyu21-96, 2510005D08Rik
MMRRC Submission 044261-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R6112 (G1)
Quality Score225.009
Status Validated
Chromosome14
Chromosomal Location57549597-57571612 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 57549873 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 182 (I182N)
Ref Sequence ENSEMBL: ENSMUSP00000022518 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022518]
Predicted Effect possibly damaging
Transcript: ENSMUST00000022518
AA Change: I182N

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000022518
Gene: ENSMUSG00000021951
AA Change: I182N

DomainStartEndE-ValueType
Pfam:N6-adenineMlase 59 218 7.3e-66 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225504
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.1%
Validation Efficiency 98% (54/55)
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 A G 16: 14,460,916 Y1030C probably damaging Het
Adh5 G T 3: 138,451,268 V197F probably damaging Het
Ankmy1 A T 1: 92,870,962 F936I probably damaging Het
Aoc1 A T 6: 48,908,691 D710V probably damaging Het
Aplp1 T C 7: 30,435,477 E622G probably damaging Het
Arhgap20 T C 9: 51,829,384 Y219H probably damaging Het
Bag3 A G 7: 128,541,832 D184G probably damaging Het
Cacna1g C T 11: 94,409,246 A2216T probably damaging Het
Cbarp T C 10: 80,135,371 probably null Het
Cep250 C A 2: 155,994,583 L2211I possibly damaging Het
Cfap65 A G 1: 74,903,139 I1752T probably benign Het
Col4a4 A G 1: 82,453,883 V1560A unknown Het
Dapk3 A T 10: 81,184,030 Q6L probably benign Het
Dctn5 A G 7: 122,133,237 probably benign Het
Eef1g T C 19: 8,977,591 F346S probably damaging Het
Erap1 G T 13: 74,646,279 W19L probably benign Het
Gm10801 A G 2: 98,664,064 H162R probably benign Het
Gpm6a G A 8: 55,054,810 A194T probably benign Het
Grip1 C A 10: 119,993,232 N32K probably benign Het
Hmcn1 A G 1: 150,618,936 I4134T probably damaging Het
Hspa14 G A 2: 3,498,068 H230Y probably benign Het
Ift172 T C 5: 31,256,897 T1435A probably benign Het
Igsf3 T A 3: 101,451,006 Y738N probably damaging Het
Lcor T C 19: 41,559,081 V368A possibly damaging Het
Lmna C A 3: 88,486,621 E217* probably null Het
Lrp1b C T 2: 41,341,882 G337E probably benign Het
Maf1 A G 15: 76,352,112 probably benign Het
Magi1 T C 6: 93,745,590 I436V probably damaging Het
Muc4 C T 16: 32,775,783 T3123I possibly damaging Het
Muc5b T A 7: 141,863,305 H3329Q probably benign Het
Noa1 C T 5: 77,309,746 R104Q probably benign Het
Odc1 T G 12: 17,549,472 S267A probably benign Het
Olfr484 T A 7: 108,125,162 I34F probably benign Het
Pam A G 1: 97,834,468 Y691H probably damaging Het
Pamr1 T C 2: 102,611,608 Y181H probably damaging Het
Pcdhga2 T A 18: 37,669,559 I152N probably damaging Het
Pigt C T 2: 164,506,445 Q437* probably null Het
Prx T C 7: 27,516,548 L158P probably damaging Het
Ptprh T A 7: 4,597,923 T152S probably benign Het
Pum1 G A 4: 130,730,280 R201H probably damaging Het
Rad51ap2 T C 12: 11,457,289 I404T probably benign Het
Radil C T 5: 142,543,644 R99H probably damaging Het
Rc3h2 C T 2: 37,378,887 V856I possibly damaging Het
Slx4ip T A 2: 137,046,744 V115E probably damaging Het
Snx3 C A 10: 42,526,046 S85R probably benign Het
Sppl2c A T 11: 104,187,137 E254D probably benign Het
Srms C A 2: 181,207,987 E237* probably null Het
Tenm1 C T X: 42,827,195 G404E probably damaging Het
Trank1 T C 9: 111,391,737 L2514P probably damaging Het
Trib1 C T 15: 59,651,638 R174* probably null Het
Usp4 A G 9: 108,356,504 Y108C probably damaging Het
Vmn2r60 A T 7: 42,195,423 I737F probably damaging Het
Zfp600 A T 4: 146,195,131 H123L probably benign Het
Zfp646 G T 7: 127,879,018 R122S possibly damaging Het
Znfx1 A G 2: 167,038,206 Y553H probably benign 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
IGL03090:Eef1akmt1 APN 14 57558086 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
R7578:Eef1akmt1 UTSW 14 57549871 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTTCCACAGAACGAGAACTGG -3'
(R):5'- CCCACCATGGAAGAAAGTGG -3'

Sequencing Primer
(F):5'- CTGGGAAATGAATGTGGAGTCCTC -3'
(R):5'- TACACACTTTGCAAACATGTTAGAGG -3'
Posted On2017-08-16