Incidental Mutation 'R7347:Eif5'
ID 591005
Institutional Source Beutler Lab
Gene Symbol Eif5
Ensembl Gene ENSMUSG00000021282
Gene Name eukaryotic translation initiation factor 5
Synonyms 2810011H21Rik, D12Ertd549e
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.964) question?
Stock # R7347 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 111538016-111546752 bp(+) (GRCm38)
Type of Mutation utr 3 prime
DNA Base Change (assembly) T to C at 111540290 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000152300 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050993] [ENSMUST00000166123] [ENSMUST00000220803] [ENSMUST00000221292] [ENSMUST00000222234] [ENSMUST00000222375] [ENSMUST00000222388] [ENSMUST00000222441] [ENSMUST00000222757]
AlphaFold P59325
Predicted Effect silent
Transcript: ENSMUST00000050993
SMART Domains Protein: ENSMUSP00000061616
Gene: ENSMUSG00000021282

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 silent
Transcript: ENSMUST00000166123
SMART Domains Protein: ENSMUSP00000126825
Gene: ENSMUSG00000021282

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 probably benign
Transcript: ENSMUST00000221101
Predicted Effect unknown
Transcript: ENSMUST00000221292
AA Change: L78P
Predicted Effect silent
Transcript: ENSMUST00000222234
Predicted Effect silent
Transcript: ENSMUST00000222375
Predicted Effect silent
Transcript: ENSMUST00000222388
Predicted Effect silent
Transcript: ENSMUST00000222441
Predicted Effect probably benign
Transcript: ENSMUST00000222757
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (80/80)
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1300017J02Rik T A 9: 103,282,646 E22V possibly damaging Het
4930564D02Rik G T 3: 105,078,412 R47S unknown Het
4931408C20Rik A T 1: 26,684,467 L544Q probably benign Het
Abtb2 T G 2: 103,567,412 I229S probably damaging Het
Adgre1 T C 17: 57,420,441 L457P probably damaging Het
Amer3 C A 1: 34,587,902 D407E probably damaging Het
Arhgap20 T C 9: 51,849,035 S729P probably benign Het
Asap2 T G 12: 21,229,457 I418S probably benign Het
Atp5j2 T C 5: 145,188,485 probably null Het
Brinp3 T A 1: 146,902,086 V757E probably benign Het
Brip1 C T 11: 86,139,103 G572R probably benign Het
C3 C A 17: 57,223,215 R462L probably benign Het
Cat T A 2: 103,463,298 H395L probably benign Het
Cela3a T C 4: 137,402,606 N235D possibly damaging Het
Cep89 G A 7: 35,429,928 R630H probably damaging Het
Cntnap1 G T 11: 101,185,268 G993W probably damaging Het
Col9a1 A G 1: 24,179,403 probably null Het
Coro2b G T 9: 62,489,372 H29N probably benign Het
Dll3 C T 7: 28,299,111 R143H probably damaging Het
Dsel C T 1: 111,861,573 G411S probably damaging Het
Dync1i1 T A 6: 5,784,530 *114R probably null Het
Ecm2 T C 13: 49,515,078 S86P probably damaging Het
Ets1 T A 9: 32,733,032 probably null Het
Exph5 A G 9: 53,375,896 N1426D possibly damaging Het
Eya2 T C 2: 165,687,666 F110L probably benign Het
Flt1 T A 5: 147,580,381 E1032V probably damaging Het
Galnt5 A T 2: 58,017,193 H556L probably benign Het
Glb1l3 A T 9: 26,829,003 Y344N probably benign Het
Glrx3 C A 7: 137,459,286 D216E possibly damaging Het
Gm45871 T A 18: 90,591,375 C246S probably damaging Het
Gm8251 G T 1: 44,059,496 P814Q probably damaging Het
Gm906 T C 13: 50,245,744 I849V probably benign Het
Gstm4 A G 3: 108,042,373 L137P probably benign Het
Hsd17b13 T C 5: 103,968,750 T169A probably damaging Het
Hydin A C 8: 110,600,362 T4778P probably benign Het
Ifna15 A G 4: 88,557,983 L88P probably damaging Het
Kcnab1 G A 3: 65,376,531 R390H probably benign Het
Kng1 C A 16: 23,067,787 H161N possibly damaging Het
Lamp5 T C 2: 136,060,958 V199A probably benign Het
Lrig3 G A 10: 126,009,966 V755M probably damaging Het
Mad1l1 C T 5: 140,144,044 R412H probably damaging Het
March6 C A 15: 31,486,359 C350F probably benign Het
Mastl A G 2: 23,133,389 S441P probably damaging Het
Mfsd13b A T 7: 120,991,728 M231L probably benign Het
Micalcl T C 7: 112,382,151 V444A probably benign Het
Ms4a6d G A 19: 11,590,073 Q155* probably null Het
Myo15 A G 11: 60,477,961 M516V probably benign Het
Myo1b A T 1: 51,751,254 F1110L probably damaging Het
Nbr1 T A 11: 101,569,321 L381* probably null Het
Nln T C 13: 104,050,847 K325E probably damaging Het
Nr4a3 T G 4: 48,051,290 S15A possibly damaging Het
Nrp2 C T 1: 62,745,504 P271S probably benign Het
Obox6 A C 7: 15,834,646 L102V possibly damaging Het
Olfr1008 T C 2: 85,689,837 M136T probably damaging Het
Olfr1208 T C 2: 88,897,271 I109V possibly damaging Het
Olfr1241 T C 2: 89,482,455 S227G probably benign Het
Olfr853 A G 9: 19,537,099 M277T probably damaging Het
Pde10a A G 17: 8,967,462 H567R probably damaging Het
Pdgfra C T 5: 75,183,098 S760L possibly damaging Het
Pid1 T A 1: 84,159,129 I94L unknown Het
Plekhn1 T C 4: 156,222,671 H474R probably benign Het
Prcc A T 3: 87,869,681 S329T possibly damaging Het
Pros1 G T 16: 62,919,523 R445L probably damaging Het
Pxdn C A 12: 30,012,261 H1370Q probably benign Het
Sgce T A 6: 4,694,106 R283S probably damaging Het
Slc25a20 T G 9: 108,682,458 probably null Het
Slc6a1 T C 6: 114,311,818 V446A probably damaging Het
Slc6a4 C G 11: 77,017,085 Y358* probably null Het
Sned1 A C 1: 93,281,736 E857A probably damaging Het
Spdye4b C T 5: 143,202,390 R213C possibly damaging Het
Spry2 T G 14: 105,893,512 E80A probably damaging Het
Stard9 G A 2: 120,666,534 C142Y probably benign Het
Sync A T 4: 129,294,306 Q377L probably benign Het
Tdrd12 A G 7: 35,485,692 C718R Het
Tgoln1 G C 6: 72,616,278 T73R probably benign Het
Tmbim1 T C 1: 74,291,279 E185G probably benign Het
Tyk2 T C 9: 21,108,034 M1031V probably damaging Het
Vmn1r71 C T 7: 10,748,501 V87I not run Het
Vmn2r49 A G 7: 9,986,814 V250A probably benign Het
Yipf3 A C 17: 46,250,827 T187P probably damaging Het
Zfp148 G T 16: 33,434,790 R50L possibly damaging Het
Zfp628 G A 7: 4,921,818 G1013E probably damaging Het
Other mutations in Eif5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00907:Eif5 APN 12 111540555 missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- TGTATATTCACGTGCAACCAGTG -3'
(R):5'- CGGTACCCACAGGCTTTACAAG -3'

Sequencing Primer
(F):5'- GAATGTCTTGTCTTTATACAGATCCC -3'
(R):5'- GTACCCACAGGCTTTACAAGAATTAC -3'
Posted On 2019-11-04