Incidental Mutation 'R5575:Eif5'
ID 437182
Institutional Source Beutler Lab
Gene Symbol Eif5
Ensembl Gene ENSMUSG00000021282
Gene Name eukaryotic translation initiation factor 5
Synonyms 2810011H21Rik, D12Ertd549e
MMRRC Submission 043130-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.966) question?
Stock # R5575 (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 111508740 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 245 (V245A)
Ref Sequence ENSEMBL: ENSMUSP00000152221 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050993] [ENSMUST00000166123] [ENSMUST00000220803] [ENSMUST00000222375] [ENSMUST00000222388] [ENSMUST00000222757] [ENSMUST00000222234] [ENSMUST00000221292] [ENSMUST00000222441]
AlphaFold P59325
Predicted Effect possibly damaging
Transcript: ENSMUST00000050993
AA Change: V245A

PolyPhen 2 Score 0.489 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000061616
Gene: ENSMUSG00000021282
AA Change: V245A

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 possibly damaging
Transcript: ENSMUST00000166123
AA Change: V245A

PolyPhen 2 Score 0.489 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000126825
Gene: ENSMUSG00000021282
AA Change: V245A

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: V27A
Predicted Effect possibly damaging
Transcript: ENSMUST00000222375
AA Change: V245A

PolyPhen 2 Score 0.489 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect probably damaging
Transcript: ENSMUST00000222388
AA Change: V245A

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221363
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221648
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223437
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221243
Predicted Effect probably benign
Transcript: ENSMUST00000222757
Predicted Effect probably benign
Transcript: ENSMUST00000222234
Predicted Effect probably benign
Transcript: ENSMUST00000221292
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221872
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223135
Predicted Effect probably benign
Transcript: ENSMUST00000222441
Meta Mutation Damage Score 0.2114 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.0%
Validation Efficiency 97% (57/59)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acin1 C T 14: 54,916,195 (GRCm39) probably null Het
Adrm1 T G 2: 179,817,509 (GRCm39) D325E probably benign Het
Anapc4 T A 5: 53,013,213 (GRCm39) V433E probably damaging Het
Aplf A C 6: 87,623,129 (GRCm39) C338G probably benign Het
Atad5 A G 11: 79,991,149 (GRCm39) T681A probably benign Het
B9d2 A G 7: 25,382,757 (GRCm39) T44A probably damaging Het
Catsperg2 T C 7: 29,405,015 (GRCm39) K81R possibly damaging Het
Cep170b T A 12: 112,702,066 (GRCm39) H286Q probably damaging Het
Cfap61 G A 2: 145,859,313 (GRCm39) V434I probably benign Het
Col5a2 A T 1: 45,417,642 (GRCm39) I1311N probably damaging Het
Col9a3 A T 2: 180,240,639 (GRCm39) probably benign Het
Dsc2 A T 18: 20,168,447 (GRCm39) C671S probably damaging Het
Epha5 G A 5: 84,564,361 (GRCm39) R2W probably damaging Het
Gabrb2 G A 11: 42,420,365 (GRCm39) probably benign Het
Gm3453 A G 14: 5,978,205 (GRCm38) V66A possibly damaging Het
Gna15 T C 10: 81,359,707 (GRCm39) I28V probably damaging Het
Hk3 A T 13: 55,162,583 (GRCm39) D88E probably damaging Het
Hmbox1 T C 14: 65,060,613 (GRCm39) T375A probably benign Het
Ibsp A T 5: 104,457,925 (GRCm39) E154V possibly damaging Het
Il7r A G 15: 9,508,273 (GRCm39) S350P probably benign Het
Isx T C 8: 75,619,429 (GRCm39) L207P probably benign Het
Krt35 T C 11: 99,985,450 (GRCm39) E197G probably damaging Het
Krt78 G A 15: 101,855,787 (GRCm39) Q675* probably null Het
Marchf1 T A 8: 66,920,962 (GRCm39) V217E probably damaging Het
Mertk T C 2: 128,578,485 (GRCm39) I157T probably damaging Het
Mmab A T 5: 114,574,832 (GRCm39) L147Q probably damaging Het
Ndst4 T A 3: 125,231,479 (GRCm39) V16D probably benign Het
Niban1 A T 1: 151,593,991 (GRCm39) H892L probably benign Het
Ogdhl T C 14: 32,047,804 (GRCm39) L18P possibly damaging Het
Pikfyve A C 1: 65,312,889 (GRCm39) H2089P probably damaging Het
Plxna1 A T 6: 89,301,523 (GRCm39) L1501Q possibly damaging Het
Ppp2r5c T C 12: 110,519,266 (GRCm39) F246S probably damaging Het
Ptbp2 A T 3: 119,514,432 (GRCm39) probably null Het
Ptbp2 G A 3: 119,514,438 (GRCm39) P463L possibly damaging Het
Rad51 A G 2: 118,964,914 (GRCm39) D274G probably benign Het
Ranbp2 T C 10: 58,328,405 (GRCm39) V2807A probably damaging Het
Rapgef4 G A 2: 71,864,464 (GRCm39) probably null Het
Rp1l1 C T 14: 64,268,433 (GRCm39) H1340Y probably benign Het
Ryr1 T A 7: 28,778,118 (GRCm39) H2133L possibly damaging Het
Scgb1c1 G A 7: 140,426,024 (GRCm39) G40E probably damaging Het
Shank2 T C 7: 143,963,871 (GRCm39) I703T probably damaging Het
Spag17 G A 3: 99,961,138 (GRCm39) A975T possibly damaging Het
Supt6 T C 11: 78,119,787 (GRCm39) D400G probably damaging Het
Synrg T C 11: 83,900,378 (GRCm39) probably null Het
Thada A C 17: 84,723,827 (GRCm39) probably null Het
Themis3 A G 17: 66,862,321 (GRCm39) S546P possibly damaging Het
Tinf2 T C 14: 55,917,631 (GRCm39) D286G probably benign Het
Tmem67 A T 4: 12,047,886 (GRCm39) V815D possibly damaging Het
Trpm1 T C 7: 63,870,018 (GRCm39) L441P possibly damaging Het
Vapa A G 17: 65,920,247 (GRCm39) V16A probably benign Het
Vmn2r38 A T 7: 9,078,635 (GRCm39) Y582* probably null Het
Vps13b A T 15: 35,930,065 (GRCm39) K3934I probably damaging Het
Wrn G A 8: 33,826,158 (GRCm39) T168I 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
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'- CTGTACCTAATGATCTTGGCTTTTG -3'
(R):5'- GGACGTAAATGCAAGCCTTC -3'

Sequencing Primer
(F):5'- TGGCTTTTGTGTAAATAGGAAGAAG -3'
(R):5'- TAATATTCAAAGAATGGTAGGGTGTG -3'
Posted On 2016-10-26