Incidental Mutation 'R9458:Eif2b4'
ID 714704
Institutional Source Beutler Lab
Gene Symbol Eif2b4
Ensembl Gene ENSMUSG00000029145
Gene Name eukaryotic translation initiation factor 2B, subunit 4 delta
Synonyms Eif2b
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9458 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 31344902-31350483 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) C to A at 31350609 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000144361 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031029] [ENSMUST00000077693] [ENSMUST00000114603] [ENSMUST00000166769] [ENSMUST00000200730] [ENSMUST00000201154] [ENSMUST00000201535] [ENSMUST00000201679] [ENSMUST00000202124] [ENSMUST00000202758]
AlphaFold Q61749
Predicted Effect probably benign
Transcript: ENSMUST00000031029
SMART Domains Protein: ENSMUSP00000031029
Gene: ENSMUSG00000029146

DomainStartEndE-ValueType
PX 1 105 3.42e-24 SMART
B41 113 274 4.05e-2 SMART
low complexity region 324 342 N/A INTRINSIC
low complexity region 428 441 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000077693
SMART Domains Protein: ENSMUSP00000076875
Gene: ENSMUSG00000029145

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
coiled coil region 29 60 N/A INTRINSIC
coiled coil region 93 122 N/A INTRINSIC
Pfam:IF-2B 219 510 3.4e-97 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114603
SMART Domains Protein: ENSMUSP00000110250
Gene: ENSMUSG00000029145

DomainStartEndE-ValueType
low complexity region 11 26 N/A INTRINSIC
coiled coil region 49 80 N/A INTRINSIC
coiled coil region 113 142 N/A INTRINSIC
Pfam:IF-2B 239 530 3.8e-97 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000166769
SMART Domains Protein: ENSMUSP00000130880
Gene: ENSMUSG00000029145

DomainStartEndE-ValueType
low complexity region 11 26 N/A INTRINSIC
coiled coil region 49 80 N/A INTRINSIC
coiled coil region 113 142 N/A INTRINSIC
Pfam:IF-2B 239 530 3.8e-97 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000200724
Predicted Effect probably benign
Transcript: ENSMUST00000200730
SMART Domains Protein: ENSMUSP00000144504
Gene: ENSMUSG00000029146

DomainStartEndE-ValueType
PX 1 87 2.3e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000200741
Predicted Effect probably benign
Transcript: ENSMUST00000200929
Predicted Effect probably benign
Transcript: ENSMUST00000200977
Predicted Effect probably benign
Transcript: ENSMUST00000201154
SMART Domains Protein: ENSMUSP00000143802
Gene: ENSMUSG00000029145

DomainStartEndE-ValueType
low complexity region 11 26 N/A INTRINSIC
coiled coil region 49 80 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000201535
SMART Domains Protein: ENSMUSP00000144643
Gene: ENSMUSG00000029146

DomainStartEndE-ValueType
Blast:PX 1 23 3e-7 BLAST
PDB:3LUI|C 1 23 3e-8 PDB
low complexity region 24 35 N/A INTRINSIC
Blast:B41 36 169 5e-92 BLAST
PDB:4GXB|A 36 169 4e-90 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000201679
SMART Domains Protein: ENSMUSP00000144688
Gene: ENSMUSG00000029146

DomainStartEndE-ValueType
Pfam:PX 6 67 2.7e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000202124
SMART Domains Protein: ENSMUSP00000144168
Gene: ENSMUSG00000029146

DomainStartEndE-ValueType
Blast:PX 1 31 6e-8 BLAST
PDB:3LUI|C 1 31 4e-9 PDB
low complexity region 41 54 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000202758
SMART Domains Protein: ENSMUSP00000144361
Gene: ENSMUSG00000029145

DomainStartEndE-ValueType
coiled coil region 71 102 N/A INTRINSIC
coiled coil region 135 164 N/A INTRINSIC
Pfam:IF-2B 261 552 2.3e-97 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Eukaryotic initiation factor 2B (EIF2B), which is necessary for protein synthesis, is a GTP exchange factor composed of five different subunits. The protein encoded by this gene is the fourth, or delta, subunit. Defects in this gene are a cause of leukoencephalopathy with vanishing white matter (VWM) and ovarioleukodystrophy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610010K14Rik T C 11: 70,127,731 (GRCm39) I64V possibly damaging Het
4921539E11Rik T A 4: 103,141,608 (GRCm39) I18L possibly damaging Het
Arcn1 A G 9: 44,671,267 (GRCm39) S87P probably damaging Het
Bmp7 G A 2: 172,721,268 (GRCm39) P269L possibly damaging Het
Cdhr18 A T 14: 13,856,709 (GRCm38) F467L Het
Clrn2 A T 5: 45,617,513 (GRCm39) Y128F possibly damaging Het
Col2a1 G A 15: 97,876,242 (GRCm39) R1192C unknown Het
Col6a6 A G 9: 105,586,361 (GRCm39) F1887L probably benign Het
Crocc2 G T 1: 93,145,516 (GRCm39) A1466S probably damaging Het
Dnah8 A G 17: 31,049,777 (GRCm39) N4313D probably damaging Het
Dzip1 T C 14: 119,148,785 (GRCm39) E298G probably damaging Het
Emx1 T A 6: 85,181,042 (GRCm39) V253D probably damaging Het
Enah A T 1: 181,746,107 (GRCm39) S654R unknown Het
F2 A T 2: 91,461,113 (GRCm39) N207K probably benign Het
Flcn G T 11: 59,690,208 (GRCm39) D281E possibly damaging Het
Fzd7 C A 1: 59,523,554 (GRCm39) P479Q probably damaging Het
Gulo T C 14: 66,235,043 (GRCm39) N226S probably benign Het
Igfbp6 A G 15: 102,057,634 (GRCm39) N205S probably benign Het
Ints1 A G 5: 139,743,407 (GRCm39) L1655P probably damaging Het
Mndal A G 1: 173,687,749 (GRCm39) F495S probably damaging Het
Panx2 A G 15: 88,952,057 (GRCm39) K175E possibly damaging Het
Panx2 A C 15: 88,952,058 (GRCm39) K175T probably damaging Het
Pde6a A T 18: 61,387,477 (GRCm39) Y456F probably damaging Het
Phf21b A G 15: 84,738,995 (GRCm39) L22P possibly damaging Het
Rev3l T C 10: 39,659,247 (GRCm39) I83T probably damaging Het
Sfrp5 T C 19: 42,190,296 (GRCm39) D52G probably benign Het
Sgsm2 A G 11: 74,759,557 (GRCm39) S102P possibly damaging Het
Slc7a2 T G 8: 41,352,330 (GRCm39) I131S probably damaging Het
Snupn A T 9: 56,890,039 (GRCm39) I287F possibly damaging Het
Synj1 T G 16: 90,766,200 (GRCm39) I573L probably benign Het
Tmcc2 T G 1: 132,286,747 (GRCm39) D568A probably damaging Het
Tmf1 G T 6: 97,153,382 (GRCm39) H230Q probably benign Het
Togaram2 T C 17: 72,024,246 (GRCm39) V810A possibly damaging Het
Vmn1r169 T C 7: 23,276,628 (GRCm39) S7P possibly damaging Het
Vwce A G 19: 10,631,688 (GRCm39) T550A possibly damaging Het
Zbtb12 T C 17: 35,115,367 (GRCm39) V384A possibly damaging Het
Zpld2 G A 4: 133,929,312 (GRCm39) P331L probably benign Het
Zscan20 T C 4: 128,480,639 (GRCm39) probably null Het
Other mutations in Eif2b4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01469:Eif2b4 APN 5 31,345,111 (GRCm39) missense probably benign 0.02
IGL02525:Eif2b4 APN 5 31,346,962 (GRCm39) missense probably damaging 0.99
IGL03178:Eif2b4 APN 5 31,344,997 (GRCm39) missense probably damaging 1.00
IGL03267:Eif2b4 APN 5 31,350,003 (GRCm39) missense possibly damaging 0.90
IGL03379:Eif2b4 APN 5 31,347,355 (GRCm39) splice site probably benign
IGL03397:Eif2b4 APN 5 31,344,997 (GRCm39) missense probably damaging 1.00
R0346:Eif2b4 UTSW 5 31,345,452 (GRCm39) splice site probably benign
R1549:Eif2b4 UTSW 5 31,350,265 (GRCm39) missense possibly damaging 0.72
R1636:Eif2b4 UTSW 5 31,349,610 (GRCm39) splice site probably null
R1753:Eif2b4 UTSW 5 31,350,284 (GRCm39) missense probably benign 0.00
R2263:Eif2b4 UTSW 5 31,349,918 (GRCm39) splice site probably benign
R2317:Eif2b4 UTSW 5 31,348,920 (GRCm39) splice site probably null
R3808:Eif2b4 UTSW 5 31,348,512 (GRCm39) missense possibly damaging 0.95
R3809:Eif2b4 UTSW 5 31,348,512 (GRCm39) missense possibly damaging 0.95
R4746:Eif2b4 UTSW 5 31,344,997 (GRCm39) missense probably damaging 1.00
R4752:Eif2b4 UTSW 5 31,348,575 (GRCm39) nonsense probably null
R4798:Eif2b4 UTSW 5 31,346,864 (GRCm39) intron probably benign
R4895:Eif2b4 UTSW 5 31,350,298 (GRCm39) missense probably benign 0.00
R4936:Eif2b4 UTSW 5 31,350,241 (GRCm39) missense probably benign 0.00
R5588:Eif2b4 UTSW 5 31,349,517 (GRCm39) nonsense probably null
R5660:Eif2b4 UTSW 5 31,348,500 (GRCm39) missense probably benign 0.00
R6363:Eif2b4 UTSW 5 31,348,583 (GRCm39) missense probably damaging 0.99
R6653:Eif2b4 UTSW 5 31,349,551 (GRCm39) missense possibly damaging 0.89
R6750:Eif2b4 UTSW 5 31,347,304 (GRCm39) missense probably damaging 0.99
R7062:Eif2b4 UTSW 5 31,350,175 (GRCm39) missense probably benign
R7221:Eif2b4 UTSW 5 31,345,131 (GRCm39) missense possibly damaging 0.55
R7360:Eif2b4 UTSW 5 31,348,719 (GRCm39) missense probably benign 0.08
R7779:Eif2b4 UTSW 5 31,347,998 (GRCm39) missense probably damaging 1.00
R8683:Eif2b4 UTSW 5 31,345,274 (GRCm39) missense probably damaging 1.00
R8848:Eif2b4 UTSW 5 31,348,210 (GRCm39) missense probably damaging 0.99
R8990:Eif2b4 UTSW 5 31,347,971 (GRCm39) missense probably benign 0.00
R9170:Eif2b4 UTSW 5 31,345,393 (GRCm39) missense probably damaging 1.00
R9377:Eif2b4 UTSW 5 31,348,500 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TGGTGCATCTAGCCCTTCAC -3'
(R):5'- GGACTCCGTTTCAGGAATGG -3'

Sequencing Primer
(F):5'- AGCCATGACTGTGGGTCCTAG -3'
(R):5'- GAAAAGTGCATGTTCCCTAAGGC -3'
Posted On 2022-06-15