Incidental Mutation 'R6278:Eif5'
ID 507792
Institutional Source Beutler Lab
Gene Symbol Eif5
Ensembl Gene ENSMUSG00000021282
Gene Name eukaryotic translation initiation factor 5
Synonyms 2810011H21Rik, D12Ertd549e
MMRRC Submission 044448-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.966) question?
Stock # R6278 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 111504535-111513187 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 111509227 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 284 (D284E)
Ref Sequence ENSEMBL: ENSMUSP00000152791 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050993] [ENSMUST00000166123] [ENSMUST00000220803] [ENSMUST00000222375] [ENSMUST00000221292] [ENSMUST00000222441] [ENSMUST00000222234] [ENSMUST00000222388] [ENSMUST00000222757]
AlphaFold P59325
Predicted Effect probably benign
Transcript: ENSMUST00000050993
AA Change: D284E

PolyPhen 2 Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000061616
Gene: ENSMUSG00000021282
AA Change: D284E

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 benign
Transcript: ENSMUST00000166123
AA Change: D284E

PolyPhen 2 Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000126825
Gene: ENSMUSG00000021282
AA Change: D284E

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 unknown
Transcript: ENSMUST00000221101
AA Change: M33K
Predicted Effect probably benign
Transcript: ENSMUST00000222375
AA Change: D284E

PolyPhen 2 Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221648
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223437
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221363
Predicted Effect probably benign
Transcript: ENSMUST00000221292
Predicted Effect probably benign
Transcript: ENSMUST00000222441
Predicted Effect probably benign
Transcript: ENSMUST00000222234
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223135
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221872
Predicted Effect probably benign
Transcript: ENSMUST00000222388
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221243
Predicted Effect probably benign
Transcript: ENSMUST00000222757
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.6%
Validation Efficiency 100% (49/49)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm3 T C 7: 119,373,072 (GRCm39) S192P probably damaging Het
Amy1 T A 3: 113,355,339 (GRCm39) Y348F probably damaging Het
Brpf3 C A 17: 29,040,258 (GRCm39) P893H probably benign Het
Cage1 T C 13: 38,200,395 (GRCm39) T702A possibly damaging Het
Cdk11b A G 4: 155,734,060 (GRCm39) probably benign Het
Cdk5rap3 T C 11: 96,802,729 (GRCm39) Y207C probably damaging Het
Cenpc1 T C 5: 86,183,394 (GRCm39) K465R probably damaging Het
Cldn14 A C 16: 93,716,486 (GRCm39) L120R possibly damaging Het
Cyp2c69 A T 19: 39,831,507 (GRCm39) C435* probably null Het
Dmxl2 T A 9: 54,323,046 (GRCm39) E1446V probably damaging Het
Dnah17 T A 11: 118,017,116 (GRCm39) D208V probably damaging Het
Eif4g3 G T 4: 137,915,394 (GRCm39) G1430V possibly damaging Het
Fam47e T C 5: 92,710,376 (GRCm39) L125P probably damaging Het
Far1 A G 7: 113,167,344 (GRCm39) I476M probably benign Het
Fsip2 A T 2: 82,819,242 (GRCm39) I4992L probably benign Het
Gli3 T A 13: 15,899,698 (GRCm39) N1028K possibly damaging Het
Gucy1a1 T C 3: 82,004,941 (GRCm39) K615E probably damaging Het
Gykl1 G T 18: 52,828,280 (GRCm39) S496I probably benign Het
Hmcn1 C T 1: 150,573,170 (GRCm39) probably null Het
Itga2 T A 13: 114,982,424 (GRCm39) H1027L probably benign Het
Kif24 A T 4: 41,423,498 (GRCm39) V251E probably damaging Het
Nupr1 T C 7: 126,224,518 (GRCm39) Y30C probably damaging Het
Or5b119 T A 19: 13,457,119 (GRCm39) M148L probably benign Het
Or5g29 A G 2: 85,421,342 (GRCm39) I153V probably benign Het
Or5w14 A T 2: 87,541,815 (GRCm39) L145* probably null Het
Or8g26 T A 9: 39,095,594 (GRCm39) I40N probably damaging Het
P2ry1 T A 3: 60,911,215 (GRCm39) I118N possibly damaging Het
Pcdh1 C T 18: 38,332,263 (GRCm39) V247M probably benign Het
Pdia5 A G 16: 35,250,293 (GRCm39) V222A possibly damaging Het
Plce1 G A 19: 38,713,495 (GRCm39) probably null Het
Ppm1m T C 9: 106,074,427 (GRCm39) R239G probably damaging Het
Pramel30 C T 4: 144,056,837 (GRCm39) P7S probably damaging Het
Prkcz A T 4: 155,352,652 (GRCm39) F492I probably damaging Het
Rpl6 T C 5: 121,346,912 (GRCm39) I269T possibly damaging Het
Scoc T C 8: 84,184,965 (GRCm39) S2G unknown Het
Spesp1 A T 9: 62,179,921 (GRCm39) M329K probably benign Het
Ston2 T C 12: 91,615,104 (GRCm39) K435E probably damaging Het
Synj2 A T 17: 6,026,149 (GRCm39) L69F probably damaging Het
Tigd5 T C 15: 75,781,842 (GRCm39) I68T probably damaging Het
Tmcc2 A T 1: 132,286,720 (GRCm39) M577K probably damaging Het
Tmem131l A T 3: 83,849,798 (GRCm39) I263N possibly damaging Het
Trip13 T C 13: 74,061,439 (GRCm39) E408G probably benign Het
Txnl4b T C 8: 110,295,735 (GRCm39) probably null Het
Ube2o T C 11: 116,430,369 (GRCm39) E1123G probably damaging Het
Vmn1r123 A G 7: 20,896,774 (GRCm39) H222R possibly damaging Het
Vmn2r73 G T 7: 85,522,140 (GRCm39) H66Q probably benign Het
Zc3h13 T A 14: 75,567,863 (GRCm39) V1052D probably benign Het
Other mutations in Eif5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00907:Eif5 APN 12 111,506,989 (GRCm39) missense probably damaging 1.00
IGL03399:Eif5 APN 12 111,511,024 (GRCm39) missense probably damaging 0.99
Builder UTSW 12 111,510,042 (GRCm39) missense probably damaging 1.00
Karenina UTSW 12 111,509,227 (GRCm39) missense probably benign 0.16
Tolstoy UTSW 12 111,509,989 (GRCm39) missense probably damaging 1.00
R0561:Eif5 UTSW 12 111,506,950 (GRCm39) missense probably benign 0.20
R1633:Eif5 UTSW 12 111,506,721 (GRCm39) missense probably damaging 0.99
R1717:Eif5 UTSW 12 111,508,651 (GRCm39) missense probably benign 0.00
R2939:Eif5 UTSW 12 111,506,713 (GRCm39) missense probably damaging 1.00
R3820:Eif5 UTSW 12 111,506,618 (GRCm39) nonsense probably null
R4402:Eif5 UTSW 12 111,508,183 (GRCm39) missense probably benign 0.01
R4532:Eif5 UTSW 12 111,506,318 (GRCm39) nonsense probably null
R5040:Eif5 UTSW 12 111,506,284 (GRCm39) missense probably damaging 0.99
R5379:Eif5 UTSW 12 111,509,989 (GRCm39) missense probably damaging 1.00
R5575:Eif5 UTSW 12 111,508,740 (GRCm39) missense probably damaging 0.98
R6629:Eif5 UTSW 12 111,510,042 (GRCm39) missense probably damaging 1.00
R7043:Eif5 UTSW 12 111,511,030 (GRCm39) missense probably benign 0.13
R7347:Eif5 UTSW 12 111,506,724 (GRCm39) utr 3 prime probably benign
R7409:Eif5 UTSW 12 111,506,697 (GRCm39) utr 3 prime probably benign
R7513:Eif5 UTSW 12 111,506,686 (GRCm39) missense probably damaging 0.97
R7964:Eif5 UTSW 12 111,506,608 (GRCm39) missense probably benign 0.01
R8384:Eif5 UTSW 12 111,506,239 (GRCm39) missense possibly damaging 0.85
X0013:Eif5 UTSW 12 111,511,028 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- GAAGATTTACAGTGGGTGTTGAAC -3'
(R):5'- TAGAGATGCTCCCAGAATCGG -3'

Sequencing Primer
(F):5'- ACTGTCTTTGGCAAGTGATAAATTGG -3'
(R):5'- TGCTCCCAGAATCGGTAAAAAGTG -3'
Posted On 2018-03-15