Incidental Mutation 'IGL01642:Eef1b2'
ID 93713
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Eef1b2
Ensembl Gene ENSMUSG00000025967
Gene Name eukaryotic translation elongation factor 1 beta 2
Synonyms 2810017J07Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01642
Quality Score
Status
Chromosome 1
Chromosomal Location 63215990-63219645 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 63216990 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 53 (L53P)
Ref Sequence ENSEMBL: ENSMUSP00000116492 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027108] [ENSMUST00000027111] [ENSMUST00000050536] [ENSMUST00000129339] [ENSMUST00000135877] [ENSMUST00000174890] [ENSMUST00000142062] [ENSMUST00000185412] [ENSMUST00000168099] [ENSMUST00000185732] [ENSMUST00000185847] [ENSMUST00000188524] [ENSMUST00000188370] [ENSMUST00000189664]
AlphaFold O70251
Predicted Effect probably benign
Transcript: ENSMUST00000027108
Predicted Effect probably benign
Transcript: ENSMUST00000027111
SMART Domains Protein: ENSMUSP00000027111
Gene: ENSMUSG00000025968

DomainStartEndE-ValueType
Pfam:Fer2_4 29 107 8.5e-20 PFAM
Pfam:Fer2 34 97 1e-11 PFAM
NADH-G_4Fe-4S_3 113 153 6.5e-19 SMART
Pfam:Molybdopterin 301 629 1e-76 PFAM
Pfam:NADH_dhqG_C 658 710 1.5e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000050536
SMART Domains Protein: ENSMUSP00000051417
Gene: ENSMUSG00000046856

DomainStartEndE-ValueType
Pfam:7tm_1 55 302 3.9e-40 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000082668
Predicted Effect noncoding transcript
Transcript: ENSMUST00000082678
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126469
Predicted Effect probably damaging
Transcript: ENSMUST00000129339
AA Change: L53P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000116492
Gene: ENSMUSG00000025967
AA Change: L53P

DomainStartEndE-ValueType
EF-1_beta_acid 103 130 2.53e-4 SMART
EF1_GNE 139 225 3.86e-44 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000135877
AA Change: Y50H

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000137671
Gene: ENSMUSG00000025967
AA Change: Y50H

DomainStartEndE-ValueType
transmembrane domain 38 57 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000174890
AA Change: L53P

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000133545
Gene: ENSMUSG00000025967
AA Change: L53P

DomainStartEndE-ValueType
Blast:WHEP 3 64 3e-6 BLAST
SCOP:d1aw9_1 7 65 2e-4 SMART
Predicted Effect unknown
Transcript: ENSMUST00000126795
AA Change: L49P
SMART Domains Protein: ENSMUSP00000134341
Gene: ENSMUSG00000025967
AA Change: L49P

DomainStartEndE-ValueType
SCOP:d1aw9_1 4 62 8e-5 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185827
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140612
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184516
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148553
Predicted Effect probably benign
Transcript: ENSMUST00000142062
Predicted Effect probably benign
Transcript: ENSMUST00000185412
SMART Domains Protein: ENSMUSP00000140467
Gene: ENSMUSG00000025968

DomainStartEndE-ValueType
Pfam:Fer2_4 29 79 5.3e-10 PFAM
Pfam:Fer2 34 79 1.4e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000168099
SMART Domains Protein: ENSMUSP00000126621
Gene: ENSMUSG00000025968

DomainStartEndE-ValueType
Pfam:Fer2_4 29 107 4.3e-19 PFAM
Pfam:Fer2 34 97 1e-11 PFAM
NADH-G_4Fe-4S_3 113 153 6.5e-19 SMART
Pfam:Molybdopterin 301 629 1e-76 PFAM
Pfam:DUF1982 657 710 3.6e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000185732
SMART Domains Protein: ENSMUSP00000140307
Gene: ENSMUSG00000025968

DomainStartEndE-ValueType
Pfam:Fer2_4 29 107 4.4e-18 PFAM
Pfam:Fer2 34 97 6.2e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199062
Predicted Effect probably benign
Transcript: ENSMUST00000185847
SMART Domains Protein: ENSMUSP00000141190
Gene: ENSMUSG00000025968

DomainStartEndE-ValueType
Pfam:Molybdopterin 1 60 5.7e-5 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000188524
SMART Domains Protein: ENSMUSP00000140895
Gene: ENSMUSG00000025967

DomainStartEndE-ValueType
EF-1_beta_acid 62 89 1.2e-8 SMART
EF1_GNE 98 184 2.9e-48 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000188370
SMART Domains Protein: ENSMUSP00000139664
Gene: ENSMUSG00000025968

DomainStartEndE-ValueType
Pfam:Fer2_4 29 96 1.1e-13 PFAM
Pfam:Fer2 34 127 1.2e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000189664
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a translation elongation factor. The protein is a guanine nucleotide exchange factor involved in the transfer of aminoacylated tRNAs to the ribosome. Alternative splicing results in three transcript variants which differ only in the 5' UTR. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aanat A G 11: 116,486,514 (GRCm39) T18A possibly damaging Het
Abat A T 16: 8,418,783 (GRCm39) I126F possibly damaging Het
Adcy6 G A 15: 98,492,390 (GRCm39) A958V possibly damaging Het
Ago2 T C 15: 72,995,239 (GRCm39) I447V probably benign Het
Arid1a A G 4: 133,409,155 (GRCm39) V1784A unknown Het
Atp1b1 A G 1: 164,285,330 (GRCm39) F33L probably benign Het
Bpnt1 G A 1: 185,086,238 (GRCm39) V198I probably benign Het
Cemip2 T A 19: 21,801,265 (GRCm39) I794N probably damaging Het
Cfap251 T C 5: 123,426,761 (GRCm39) V383A possibly damaging Het
Cgas G A 9: 78,344,680 (GRCm39) P247L probably damaging Het
Clip3 G A 7: 29,998,287 (GRCm39) M244I probably benign Het
Clip3 A T 7: 29,996,494 (GRCm39) probably benign Het
Cyp2a22 A T 7: 26,638,184 (GRCm39) N107K possibly damaging Het
Cyp2c23 A T 19: 43,993,995 (GRCm39) L457Q probably damaging Het
Dbr1 A G 9: 99,458,031 (GRCm39) Y17C probably damaging Het
Drc7 G A 8: 95,785,767 (GRCm39) V208I probably benign Het
Dst T A 1: 34,228,470 (GRCm39) L2021Q probably damaging Het
E2f4 C A 8: 106,027,968 (GRCm39) P299T probably damaging Het
Enpp3 T C 10: 24,674,167 (GRCm39) T378A probably damaging Het
Eps15 A G 4: 109,223,670 (GRCm39) N302S probably benign Het
Esrrg G A 1: 187,943,112 (GRCm39) V362M probably benign Het
Gcc2 T A 10: 58,116,434 (GRCm39) N1014K probably benign Het
Gm3099 T A 14: 15,346,476 (GRCm39) M114K possibly damaging Het
Gnptab C T 10: 88,271,994 (GRCm39) T928I possibly damaging Het
Gpd2 A T 2: 57,158,083 (GRCm39) R31* probably null Het
Impdh1 T C 6: 29,207,165 (GRCm39) T60A possibly damaging Het
Kcnab3 A G 11: 69,221,256 (GRCm39) E191G probably benign Het
Kcnh5 A G 12: 75,011,943 (GRCm39) S659P probably damaging Het
Kl T C 5: 150,904,334 (GRCm39) I362T possibly damaging Het
Kpna4 A G 3: 68,993,117 (GRCm39) V414A probably damaging Het
Magi1 G A 6: 93,663,605 (GRCm39) P1111S possibly damaging Het
Myo18a A G 11: 77,755,558 (GRCm39) D1965G probably benign Het
Nadsyn1 G A 7: 143,351,615 (GRCm39) P673S probably damaging Het
Naip2 A G 13: 100,297,445 (GRCm39) S864P probably damaging Het
Or10ak16 A G 4: 118,750,658 (GRCm39) Y126C probably damaging Het
Or2d2b A T 7: 106,706,029 (GRCm39) I13N possibly damaging Het
Or2f1 G T 6: 42,721,486 (GRCm39) V172L probably benign Het
Paics T A 5: 77,109,357 (GRCm39) probably benign Het
Papss1 G T 3: 131,288,996 (GRCm39) probably benign Het
Pax3 A G 1: 78,173,300 (GRCm39) probably null Het
Pgbd5 T G 8: 125,110,941 (GRCm39) Q159P probably benign Het
Pkd1 A G 17: 24,800,266 (GRCm39) Y3009C probably damaging Het
Pla2g4d T C 2: 120,111,117 (GRCm39) T161A probably damaging Het
Podxl2 T A 6: 88,820,529 (GRCm39) Y521F probably damaging Het
Pramel34 A G 5: 93,784,154 (GRCm39) Y437H possibly damaging Het
Prmt2 C T 10: 76,058,327 (GRCm39) G161S probably damaging Het
Rft1 C T 14: 30,398,825 (GRCm39) T265I probably damaging Het
Rims2 T A 15: 39,321,192 (GRCm39) L736M probably damaging Het
Slf1 C T 13: 77,198,034 (GRCm39) A747T probably benign Het
Snx2 A G 18: 53,349,519 (GRCm39) K427E probably damaging Het
Tmem131l A T 3: 83,845,357 (GRCm39) D424E possibly damaging Het
Tnxb A G 17: 34,937,488 (GRCm39) T3826A probably damaging Het
Tpp2 T C 1: 43,993,813 (GRCm39) Y233H probably damaging Het
Ubl4b C A 3: 107,462,147 (GRCm39) E38* probably null Het
Usp5 A T 6: 124,797,416 (GRCm39) I486N probably damaging Het
Vmn1r193 A C 13: 22,403,794 (GRCm39) L66R probably damaging Het
Vps13b T C 15: 35,792,218 (GRCm39) I2162T probably benign Het
Wipf2 T C 11: 98,781,650 (GRCm39) V63A probably benign Het
Zfp735 G T 11: 73,601,305 (GRCm39) C83F possibly damaging Het
Zfyve26 T C 12: 79,308,348 (GRCm39) probably null Het
Other mutations in Eef1b2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00852:Eef1b2 APN 1 63,217,665 (GRCm39) missense probably damaging 1.00
IGL00861:Eef1b2 APN 1 63,217,665 (GRCm39) missense probably damaging 1.00
IGL00862:Eef1b2 APN 1 63,217,665 (GRCm39) missense probably damaging 1.00
IGL00863:Eef1b2 APN 1 63,217,665 (GRCm39) missense probably damaging 1.00
R1127:Eef1b2 UTSW 1 63,218,616 (GRCm39) critical splice acceptor site probably null
R1210:Eef1b2 UTSW 1 63,216,432 (GRCm39) missense probably damaging 1.00
R1909:Eef1b2 UTSW 1 63,216,431 (GRCm39) missense probably damaging 0.99
R2045:Eef1b2 UTSW 1 63,218,646 (GRCm39) nonsense probably null
R5129:Eef1b2 UTSW 1 63,218,739 (GRCm39) missense probably damaging 0.96
R6847:Eef1b2 UTSW 1 63,217,648 (GRCm39) missense probably benign 0.32
R7748:Eef1b2 UTSW 1 63,217,024 (GRCm39) missense probably damaging 0.99
R8819:Eef1b2 UTSW 1 63,217,268 (GRCm39) unclassified probably benign
R8995:Eef1b2 UTSW 1 63,217,629 (GRCm39) missense probably damaging 1.00
Posted On 2013-12-09