Incidental Mutation 'R1636:Eif2b4'
ID 173151
Institutional Source Beutler Lab
Gene Symbol Eif2b4
Ensembl Gene ENSMUSG00000029145
Gene Name eukaryotic translation initiation factor 2B, subunit 4 delta
Synonyms Eif2b
MMRRC Submission 039672-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1636 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 31344902-31350483 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 31349610 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000144688 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031029] [ENSMUST00000077693] [ENSMUST00000114603] [ENSMUST00000166769] [ENSMUST00000201154] [ENSMUST00000201535] [ENSMUST00000202124] [ENSMUST00000200730] [ENSMUST00000201679] [ENSMUST00000202758]
AlphaFold Q61749
Predicted Effect probably null
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
AA Change: Q33L

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000076875
Gene: ENSMUSG00000029145
AA Change: Q33L

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 possibly damaging
Transcript: ENSMUST00000114603
AA Change: Q53L

PolyPhen 2 Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000110250
Gene: ENSMUSG00000029145
AA Change: Q53L

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 possibly damaging
Transcript: ENSMUST00000114605
AA Change: Q75L

PolyPhen 2 Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000110252
Gene: ENSMUSG00000029145
AA Change: Q75L

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
Predicted Effect possibly damaging
Transcript: ENSMUST00000166769
AA Change: Q53L

PolyPhen 2 Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000130880
Gene: ENSMUSG00000029145
AA Change: Q53L

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 possibly damaging
Transcript: ENSMUST00000201154
AA Change: Q53L

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000143802
Gene: ENSMUSG00000029145
AA Change: Q53L

DomainStartEndE-ValueType
low complexity region 11 26 N/A INTRINSIC
coiled coil region 49 80 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201343
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201835
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200983
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202032
Predicted Effect probably null
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: 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: ENSMUST00000200730
SMART Domains Protein: ENSMUSP00000144504
Gene: ENSMUSG00000029146

DomainStartEndE-ValueType
PX 1 87 2.3e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000200977
Predicted Effect probably benign
Transcript: ENSMUST00000200741
Predicted Effect probably benign
Transcript: ENSMUST00000200929
Predicted Effect probably null
Transcript: ENSMUST00000201679
SMART Domains Protein: ENSMUSP00000144688
Gene: ENSMUSG00000029146

DomainStartEndE-ValueType
Pfam:PX 6 67 2.7e-9 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000202758
AA Change: Q75L

PolyPhen 2 Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000144361
Gene: ENSMUSG00000029145
AA Change: Q75L

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202323
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202743
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202468
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202616
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202318
Meta Mutation Damage Score 0.0828 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 94.4%
  • 20x: 86.1%
Validation Efficiency 96% (85/89)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m C A 6: 121,631,571 (GRCm39) L623M probably benign Het
Abca7 A G 10: 79,844,832 (GRCm39) H1518R probably benign Het
Adam4 A G 12: 81,466,464 (GRCm39) L719S probably damaging Het
Adprm T C 11: 66,932,549 (GRCm39) Y120C possibly damaging Het
Arhgap25 T A 6: 87,472,923 (GRCm39) Y78F probably damaging Het
Asap1 G A 15: 63,995,761 (GRCm39) P665L probably damaging Het
Bank1 T C 3: 135,788,987 (GRCm39) K637R probably damaging Het
Bcr T A 10: 74,966,898 (GRCm39) L502M probably damaging Het
Brwd1 A G 16: 95,860,841 (GRCm39) L315P probably damaging Het
Btbd7 A T 12: 102,760,110 (GRCm39) Y613N probably damaging Het
Cdca7l G A 12: 117,840,663 (GRCm39) R395H probably damaging Het
Cftr T A 6: 18,226,156 (GRCm39) I368K probably damaging Het
D6Wsu163e T C 6: 126,923,564 (GRCm39) V150A possibly damaging Het
Ddx52 A G 11: 83,846,169 (GRCm39) T470A probably damaging Het
Def6 A G 17: 28,442,892 (GRCm39) E316G possibly damaging Het
Dip2a A T 10: 76,157,412 (GRCm39) N64K probably benign Het
Dlgap4 G T 2: 156,587,997 (GRCm39) E631* probably null Het
Dner T C 1: 84,563,051 (GRCm39) K190E possibly damaging Het
Eif3a A T 19: 60,770,343 (GRCm39) D119E possibly damaging Het
Ercc2 C T 7: 19,121,049 (GRCm39) T276M possibly damaging Het
Exoc1 A G 5: 76,715,965 (GRCm39) K830R probably benign Het
F2r G T 13: 95,740,400 (GRCm39) Y378* probably null Het
Fam186a G A 15: 99,839,539 (GRCm39) T2235I unknown Het
Fmo3 T G 1: 162,781,994 (GRCm39) K453T probably benign Het
Fzd3 A T 14: 65,490,555 (GRCm39) D9E probably benign Het
Galns A G 8: 123,330,955 (GRCm39) probably benign Het
Gm1818 T C 12: 48,602,550 (GRCm39) noncoding transcript Het
Gm9955 C A 18: 24,842,287 (GRCm39) probably benign Het
Immp2l T C 12: 41,750,470 (GRCm39) V113A probably damaging Het
Iyd T A 10: 3,495,588 (GRCm39) M82K possibly damaging Het
Kif21a A T 15: 90,869,008 (GRCm39) probably benign Het
Lipf A G 19: 33,953,935 (GRCm39) D342G probably damaging Het
Lmbrd1 C A 1: 24,786,011 (GRCm39) Y435* probably null Het
Mpped1 C T 15: 83,676,191 (GRCm39) probably benign Het
Mtrf1l A G 10: 5,763,265 (GRCm39) S355P probably damaging Het
Ndn C T 7: 61,998,256 (GRCm39) P34L probably benign Het
Neo1 T C 9: 58,820,560 (GRCm39) S788G probably damaging Het
Nfx1 T G 4: 41,016,072 (GRCm39) probably null Het
Nlrp4c T C 7: 6,069,737 (GRCm39) V546A possibly damaging Het
Nwd2 G A 5: 63,964,900 (GRCm39) V1495M probably damaging Het
Oaf T A 9: 43,150,621 (GRCm39) I84F probably benign Het
Obscn A G 11: 59,013,463 (GRCm39) F1153S probably damaging Het
Ofcc1 A T 13: 40,333,904 (GRCm39) C396S possibly damaging Het
Omg A G 11: 79,393,166 (GRCm39) S231P probably benign Het
Or51a7 T G 7: 102,614,898 (GRCm39) I197S possibly damaging Het
Or8g35 T C 9: 39,381,215 (GRCm39) D269G probably benign Het
Pdcl3 A G 1: 39,034,016 (GRCm39) T53A possibly damaging Het
Pik3r2 A T 8: 71,224,542 (GRCm39) H244Q probably benign Het
Pinx1 A T 14: 64,103,586 (GRCm39) H55L probably damaging Het
Pwwp2b T A 7: 138,834,758 (GRCm39) H66Q probably benign Het
Rell2 A G 18: 38,091,132 (GRCm39) D99G probably damaging Het
Reln G A 5: 22,203,681 (GRCm39) A1191V probably damaging Het
Rprm T C 2: 53,975,316 (GRCm39) M1V probably null Het
Sav1 A C 12: 70,031,269 (GRCm39) H84Q probably benign Het
Scamp5 T C 9: 57,358,692 (GRCm39) D28G possibly damaging Het
Selenbp2 G A 3: 94,604,122 (GRCm39) G9D probably damaging Het
Sh3tc2 T C 18: 62,122,792 (GRCm39) W518R probably damaging Het
Slc10a6 A T 5: 103,777,012 (GRCm39) N29K probably benign Het
Spindoc C A 19: 7,351,922 (GRCm39) D142Y probably damaging Het
Spink12 T A 18: 44,240,795 (GRCm39) D60E probably benign Het
Sugt1 A G 14: 79,825,422 (GRCm39) I23V probably benign Het
Syne2 T C 12: 76,051,506 (GRCm39) C4079R probably benign Het
Tex15 T G 8: 34,066,415 (GRCm39) Y1948* probably null Het
Thoc2l T A 5: 104,668,616 (GRCm39) M1046K probably damaging Het
Tln2 T C 9: 67,213,814 (GRCm39) E321G probably damaging Het
Tmem198b A G 10: 128,638,065 (GRCm39) L166P probably damaging Het
Tspear T A 10: 77,706,253 (GRCm39) L341H possibly damaging Het
Ttn T A 2: 76,730,566 (GRCm39) probably benign Het
Unc13a G A 8: 72,106,034 (GRCm39) T690I probably damaging Het
Ush2a T C 1: 188,198,373 (GRCm39) I1479T possibly damaging Het
Vcan G A 13: 89,851,786 (GRCm39) T1058I possibly damaging Het
Vmn1r84 T C 7: 12,096,522 (GRCm39) Q45R probably benign Het
Vmn2r111 T C 17: 22,790,380 (GRCm39) N209D probably damaging Het
Wbp1l A G 19: 46,632,883 (GRCm39) Y40C probably damaging Het
Wdr72 A T 9: 74,086,907 (GRCm39) H625L probably benign Het
Zeb2 T C 2: 44,892,623 (GRCm39) Y195C probably damaging Het
Zkscan6 C T 11: 65,705,256 (GRCm39) probably benign Het
Zmym6 C A 4: 127,017,560 (GRCm39) H1022N probably damaging 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
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
R9458:Eif2b4 UTSW 5 31,350,609 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- CATCAGGCTCTGCCTTCCAAGTAAC -3'
(R):5'- CTAAGTCGCCTGTCAAGAGCTACAC -3'

Sequencing Primer
(F):5'- AAGTAACCGCTTTTGTACTTGC -3'
(R):5'- CTGGGAGATTTTACAGAGCTTAACG -3'
Posted On 2014-04-24