Incidental Mutation 'IGL00907:Eif5'
ID28706
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Eif5
Ensembl Gene ENSMUSG00000021282
Gene Nameeukaryotic translation initiation factor 5
Synonyms2810011H21Rik, D12Ertd549e
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.966) question?
Stock #IGL00907
Quality Score
Status
Chromosome12
Chromosomal Location111538016-111546752 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 111540555 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 141 (I141N)
Ref Sequence ENSEMBL: ENSMUSP00000152534 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050993] [ENSMUST00000166123] [ENSMUST00000220803] [ENSMUST00000221292] [ENSMUST00000222234] [ENSMUST00000222375] [ENSMUST00000222441] [ENSMUST00000222388] [ENSMUST00000222757]
Predicted Effect probably damaging
Transcript: ENSMUST00000050993
AA Change: I141N

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000061616
Gene: ENSMUSG00000021282
AA Change: I141N

DomainStartEndE-ValueType
eIF2B_5 13 128 7.62e-67 SMART
low complexity region 154 171 N/A INTRINSIC
low complexity region 172 190 N/A INTRINSIC
low complexity region 194 208 N/A INTRINSIC
eIF5C 296 386 7.85e-40 SMART
low complexity region 421 427 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000082559
Predicted Effect probably damaging
Transcript: ENSMUST00000166123
AA Change: I141N

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000126825
Gene: ENSMUSG00000021282
AA Change: I141N

DomainStartEndE-ValueType
eIF2B_5 13 128 7.62e-67 SMART
low complexity region 154 171 N/A INTRINSIC
low complexity region 172 190 N/A INTRINSIC
low complexity region 194 208 N/A INTRINSIC
eIF5C 296 386 7.85e-40 SMART
low complexity region 421 427 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000220803
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220918
Predicted Effect probably benign
Transcript: ENSMUST00000221101
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221243
Predicted Effect probably benign
Transcript: ENSMUST00000221292
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221363
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221648
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221872
Predicted Effect probably damaging
Transcript: ENSMUST00000222234
AA Change: I141N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000222375
AA Change: I141N

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223437
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223135
Predicted Effect probably damaging
Transcript: ENSMUST00000222441
AA Change: I141N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000222388
AA Change: I141N

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
Predicted Effect probably benign
Transcript: ENSMUST00000222757
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Eukaryotic translation initiation factor-5 (EIF5) interacts with the 40S initiation complex to promote hydrolysis of bound GTP with concomitant joining of the 60S ribosomal subunit to the 40S initiation complex. The resulting functional 80S ribosomal initiation complex is then active in peptidyl transfer and chain elongations (summary by Si et al., 1996 [PubMed 8663286]).[supplied by OMIM, May 2010]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Armt1 A G 10: 4,454,051 F379V possibly damaging Het
Atp8b1 T C 18: 64,561,705 D502G possibly damaging Het
Brwd3 A G X: 108,784,246 probably benign Het
Ccdc171 T A 4: 83,864,249 H1259Q probably damaging Het
Chd7 T C 4: 8,840,435 I1401T probably damaging Het
Csf1 T C 3: 107,750,346 N76S probably damaging Het
Dld A G 12: 31,332,330 probably benign Het
Etl4 G A 2: 20,766,478 G674D possibly damaging Het
Fam234a G A 17: 26,213,526 R550W probably damaging Het
Hipk2 A G 6: 38,818,273 S347P probably damaging Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Hsd17b2 A T 8: 117,734,694 I157L probably benign Het
Ibtk A G 9: 85,690,331 S1269P possibly damaging Het
Igsf3 T C 3: 101,427,448 probably benign Het
Kin G A 2: 10,080,704 R25H probably damaging Het
Kin T C 2: 10,080,706 W26R probably damaging Het
Kir3dl1 G A X: 136,525,162 C95Y probably damaging Het
Lamc2 A G 1: 153,144,651 V383A probably benign Het
Mael A G 1: 166,204,849 Y314H probably damaging Het
Npat T C 9: 53,563,290 V794A possibly damaging Het
Nr4a2 T A 2: 57,109,217 I340F probably damaging Het
Olfr1195 A G 2: 88,683,294 V146A probably benign Het
Olfr477 A T 7: 107,990,890 D175V probably damaging Het
Olfr836 T A 9: 19,121,232 D89E possibly damaging Het
Pdcd11 T C 19: 47,107,564 V641A probably benign Het
Phf24 C T 4: 42,938,667 T264I probably benign Het
Sars2 G T 7: 28,753,423 probably benign Het
Scn1a A C 2: 66,327,797 S411A probably damaging Het
Srsf5 T C 12: 80,947,834 V112A probably damaging Het
Susd2 T C 10: 75,640,931 N206S probably benign Het
Thrap3 C T 4: 126,165,578 G892S probably benign Het
Ttc32 T A 12: 9,034,953 Y58N probably damaging Het
Other mutations in Eif5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03399:Eif5 APN 12 111544590 missense probably damaging 0.99
Builder UTSW 12 111543608 missense probably damaging 1.00
Karenina UTSW 12 111542793 missense probably benign 0.16
Tolstoy UTSW 12 111543555 missense probably damaging 1.00
R0561:Eif5 UTSW 12 111540516 missense probably benign 0.20
R1633:Eif5 UTSW 12 111540287 missense probably damaging 0.99
R1717:Eif5 UTSW 12 111542217 missense probably benign 0.00
R2939:Eif5 UTSW 12 111540279 missense probably damaging 1.00
R3820:Eif5 UTSW 12 111540184 nonsense probably null
R4402:Eif5 UTSW 12 111541749 missense probably benign 0.01
R4532:Eif5 UTSW 12 111539884 nonsense probably null
R5040:Eif5 UTSW 12 111539850 missense probably damaging 0.99
R5379:Eif5 UTSW 12 111543555 missense probably damaging 1.00
R5575:Eif5 UTSW 12 111542306 missense probably damaging 0.98
R6278:Eif5 UTSW 12 111542793 missense probably benign 0.16
R6629:Eif5 UTSW 12 111543608 missense probably damaging 1.00
R7043:Eif5 UTSW 12 111544596 missense probably benign 0.13
R7347:Eif5 UTSW 12 111540290 utr 3 prime probably benign
R7409:Eif5 UTSW 12 111540263 utr 3 prime probably benign
R7513:Eif5 UTSW 12 111540252 missense probably damaging 0.97
R7964:Eif5 UTSW 12 111540174 missense probably benign 0.01
R8384:Eif5 UTSW 12 111539805 missense possibly damaging 0.85
X0013:Eif5 UTSW 12 111544594 missense probably damaging 0.98
Posted On2013-04-17