Incidental Mutation 'R2939:Eif5'
ID 264602
Institutional Source Beutler Lab
Gene Symbol Eif5
Ensembl Gene ENSMUSG00000021282
Gene Name eukaryotic translation initiation factor 5
Synonyms 2810011H21Rik, D12Ertd549e
MMRRC Submission 040516-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.966) question?
Stock # R2939 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 111504535-111513187 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 111506713 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 102 (C102R)
Ref Sequence ENSEMBL: ENSMUSP00000152221 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050993] [ENSMUST00000166123] [ENSMUST00000220803] [ENSMUST00000222234] [ENSMUST00000222388] [ENSMUST00000222441] [ENSMUST00000221292] [ENSMUST00000222375] [ENSMUST00000222757]
AlphaFold P59325
Predicted Effect probably damaging
Transcript: ENSMUST00000050993
AA Change: C102R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000061616
Gene: ENSMUSG00000021282
AA Change: C102R

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: C102R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126825
Gene: ENSMUSG00000021282
AA Change: C102R

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 probably damaging
Transcript: ENSMUST00000222234
AA Change: C102R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000222388
AA Change: C102R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000222441
AA Change: C102R

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
Predicted Effect silent
Transcript: ENSMUST00000221292
Predicted Effect probably damaging
Transcript: ENSMUST00000222375
AA Change: C102R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223437
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223135
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221243
Predicted Effect probably benign
Transcript: ENSMUST00000222757
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221872
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221363
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221648
Meta Mutation Damage Score 0.9675 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.6%
Validation Efficiency 98% (62/63)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl11 T C 9: 107,808,409 (GRCm39) Y911H possibly damaging Het
Arhgef26 A C 3: 62,288,331 (GRCm39) K467T possibly damaging Het
Armcx6 A T X: 133,650,625 (GRCm39) W69R probably damaging Het
Asl T C 5: 130,042,245 (GRCm39) Y277C probably damaging Het
Atm T C 9: 53,406,011 (GRCm39) Y1219C probably damaging Het
Azin2 C T 4: 128,828,397 (GRCm39) C270Y probably benign Het
Brsk1 A T 7: 4,711,139 (GRCm39) I545F possibly damaging Het
Carm1 C A 9: 21,490,692 (GRCm39) probably null Het
Cfap410 A G 10: 77,817,507 (GRCm39) N78S probably benign Het
Cfap69 G A 5: 5,694,432 (GRCm39) A143V probably damaging Het
Cldn14 T C 16: 93,716,192 (GRCm39) K218R probably damaging Het
Col5a3 T C 9: 20,706,954 (GRCm39) K714R unknown Het
Crybg2 A G 4: 133,809,745 (GRCm39) H1517R possibly damaging Het
Dagla A C 19: 10,233,728 (GRCm39) F382C probably damaging Het
Dixdc1 G A 9: 50,622,259 (GRCm39) A25V probably damaging Het
Dock6 A G 9: 21,750,496 (GRCm39) F473L possibly damaging Het
Faiml A G 9: 99,114,527 (GRCm39) C121R probably damaging Het
Fhdc1 A G 3: 84,364,577 (GRCm39) V223A possibly damaging Het
Garin4 T C 1: 190,896,103 (GRCm39) D180G possibly damaging Het
Gpatch8 A G 11: 102,399,010 (GRCm39) V74A unknown Het
Haghl A G 17: 26,004,060 (GRCm39) V8A possibly damaging Het
Ksr1 A G 11: 78,936,007 (GRCm39) probably null Het
Lama5 A C 2: 179,840,747 (GRCm39) Y584D probably damaging Het
Lgi4 C T 7: 30,767,253 (GRCm39) R427* probably null Het
Lrriq1 T A 10: 102,980,750 (GRCm39) S1462C probably damaging Het
Map3k4 C T 17: 12,480,157 (GRCm39) E682K probably damaging Het
Myo9b G A 8: 71,786,981 (GRCm39) R721Q probably benign Het
Nherf1 C T 11: 115,071,270 (GRCm39) R335C probably damaging Het
Nmnat2 C A 1: 152,950,474 (GRCm39) S53Y probably damaging Het
Or8b12i C A 9: 20,082,061 (GRCm39) G269W probably benign Het
Or8g34 G A 9: 39,373,226 (GRCm39) M166I probably benign Het
Pcsk7 C T 9: 45,827,322 (GRCm39) A363V probably damaging Het
Pdrg1 C T 2: 152,854,355 (GRCm39) G62R probably damaging Het
Pdzd7 A G 19: 45,033,862 (GRCm39) I74T possibly damaging Het
Plcb4 T C 2: 135,781,123 (GRCm39) probably benign Het
Pramel28 A G 4: 143,693,247 (GRCm39) V77A probably benign Het
Rnf25 A G 1: 74,635,047 (GRCm39) V135A possibly damaging Het
Rph3a A G 5: 121,118,212 (GRCm39) probably benign Het
Rsf1 CG CGACGGCGGTG 7: 97,229,115 (GRCm39) probably benign Het
Senp6 G A 9: 80,051,124 (GRCm39) A1134T probably benign Het
Slc1a6 G T 10: 78,650,448 (GRCm39) *562L probably null Het
Slc26a6 G A 9: 108,734,236 (GRCm39) V206I probably benign Het
Slc45a3 A G 1: 131,905,637 (GRCm39) E206G probably damaging Het
Smc1a T A X: 150,816,695 (GRCm39) Y516N probably damaging Het
Smpd3 A G 8: 106,984,039 (GRCm39) V560A probably benign Het
Spata31g1 A G 4: 42,972,946 (GRCm39) K760E probably benign Het
Ssc4d T C 5: 135,994,578 (GRCm39) T51A possibly damaging Het
Suco A G 1: 161,676,220 (GRCm39) I386T probably damaging Het
Tecta A T 9: 42,289,290 (GRCm39) M425K possibly damaging Het
Tmprss11e G A 5: 86,869,266 (GRCm39) R96W probably damaging Het
Trim63 T C 4: 134,050,308 (GRCm39) probably benign Het
Trpv1 A G 11: 73,145,675 (GRCm39) K403R probably damaging Het
Ttc39d A G 17: 80,524,982 (GRCm39) Y547C probably damaging Het
Unc79 C T 12: 102,957,684 (GRCm39) T33I probably damaging Het
Usp47 G A 7: 111,681,743 (GRCm39) S518N probably damaging Het
Vmn2r22 T A 6: 123,614,594 (GRCm39) D332V probably damaging Het
Vmn2r55 A G 7: 12,385,832 (GRCm39) L716P probably damaging Het
Zfp558 T C 9: 18,367,924 (GRCm39) N288S possibly damaging 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
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
R6278:Eif5 UTSW 12 111,509,227 (GRCm39) missense probably benign 0.16
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'- GTATATTCACGTGCAACCAGTG -3'
(R):5'- CGGTACCCACAGGCTTTACAAG -3'

Sequencing Primer
(F):5'- ACCAGTGCTTTAGTTAACTATAATGG -3'
(R):5'- GTACCCACAGGCTTTACAAGAATTAC -3'
Posted On 2015-02-05