Incidental Mutation 'R7221:Eif2b4'
ID 561807
Institutional Source Beutler Lab
Gene Symbol Eif2b4
Ensembl Gene ENSMUSG00000029145
Gene Name eukaryotic translation initiation factor 2B, subunit 4 delta
Synonyms Eif2b
MMRRC Submission 045293-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7221 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 31344902-31350483 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 31345131 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 463 (D463E)
Ref Sequence ENSEMBL: ENSMUSP00000076875 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077693] [ENSMUST00000114603] [ENSMUST00000166769] [ENSMUST00000201154] [ENSMUST00000202758]
AlphaFold Q61749
Predicted Effect possibly damaging
Transcript: ENSMUST00000077693
AA Change: D463E

PolyPhen 2 Score 0.554 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000076875
Gene: ENSMUSG00000029145
AA Change: D463E

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
AA Change: D483E

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000110250
Gene: ENSMUSG00000029145
AA Change: D483E

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
AA Change: D483E

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000130880
Gene: ENSMUSG00000029145
AA Change: D483E

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: ENSMUST00000200724
AA Change: D183E

PolyPhen 2 Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
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 possibly damaging
Transcript: ENSMUST00000202758
AA Change: D505E

PolyPhen 2 Score 0.585 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000144361
Gene: ENSMUSG00000029145
AA Change: D505E

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
Meta Mutation Damage Score 0.0857 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (77/77)
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
Aadacl2fm1 A G 3: 59,836,354 (GRCm39) probably benign Het
Abr A C 11: 76,313,987 (GRCm39) M720R probably benign Het
Acad10 G A 5: 121,768,273 (GRCm39) T761M probably damaging Het
Agxt G T 1: 93,065,623 (GRCm39) G164V possibly damaging Het
Ankar C T 1: 72,689,390 (GRCm39) G1247D probably damaging Het
Bptf A C 11: 106,945,658 (GRCm39) L2527R probably damaging Het
Brinp2 T C 1: 158,094,117 (GRCm39) H195R possibly damaging Het
Cacna2d4 G T 6: 119,213,624 (GRCm39) R14S probably benign Het
Cep126 A T 9: 8,100,988 (GRCm39) C515* probably null Het
Chia1 A T 3: 106,039,236 (GRCm39) N442I probably damaging Het
Clasp2 A G 9: 113,681,825 (GRCm39) D327G probably damaging Het
Cnbd2 T C 2: 156,215,581 (GRCm39) F519L probably benign Het
Cntrl T A 2: 35,041,869 (GRCm39) F1214I possibly damaging Het
Cul9 A T 17: 46,839,491 (GRCm39) M829K probably damaging Het
Cyp4b1 T C 4: 115,493,175 (GRCm39) Q223R possibly damaging Het
Defb37 A T 8: 19,040,988 (GRCm39) M1K probably null Het
Dnah7c A T 1: 46,494,937 (GRCm39) Q55L possibly damaging Het
Efcab3 A G 11: 104,791,432 (GRCm39) N2882S probably benign Het
Elapor1 T G 3: 108,382,317 (GRCm39) D232A possibly damaging Het
Elovl1 C T 4: 118,288,811 (GRCm39) H167Y probably damaging Het
Emb T A 13: 117,404,013 (GRCm39) L255Q probably damaging Het
Eogt T C 6: 97,089,685 (GRCm39) Y465C probably damaging Het
Erc2 A G 14: 27,375,115 (GRCm39) H111R probably damaging Het
Fam234b T C 6: 135,205,529 (GRCm39) F498S probably damaging Het
Fgfr3 GAGGCTGGCAGCGTGTACGCAGGC GAGGC 5: 33,890,092 (GRCm39) probably null Het
Flrt3 T A 2: 140,503,090 (GRCm39) E179D probably damaging Het
Fndc3a T C 14: 72,793,597 (GRCm39) R993G probably benign Het
Gm14325 T C 2: 177,476,403 (GRCm39) T14A probably damaging Het
Gm5464 T A 14: 67,106,681 (GRCm39) V106D unknown Het
Gpatch11 T A 17: 79,149,546 (GRCm39) I182N possibly damaging Het
Grm6 A G 11: 50,753,870 (GRCm39) R725G probably damaging Het
Hap1 A T 11: 100,239,655 (GRCm39) M588K probably benign Het
Icam2 A G 11: 106,273,268 (GRCm39) F15L probably benign Het
Ints8 A G 4: 11,225,613 (GRCm39) M648T probably benign Het
Ipo11 A T 13: 107,029,065 (GRCm39) L296Q probably damaging Het
Kirrel1 G A 3: 86,993,704 (GRCm39) Q518* probably null Het
Krt18 G T 15: 101,937,967 (GRCm39) D155Y possibly damaging Het
Lctl A T 9: 64,026,217 (GRCm39) K91* probably null Het
Marf1 C A 16: 13,960,349 (GRCm39) R565L probably damaging Het
Med13 A T 11: 86,178,921 (GRCm39) D1458E probably benign Het
Mroh8 T A 2: 157,071,837 (GRCm39) Y556F probably benign Het
Muc16 C T 9: 18,553,495 (GRCm39) G4266D probably benign Het
Nsrp1 A T 11: 76,939,249 (GRCm39) F182I probably damaging Het
Obox3 A T 7: 15,359,983 (GRCm39) Y229N probably benign Het
Or11h7 A T 14: 50,891,528 (GRCm39) Y278F probably damaging Het
Or2b2 T C 13: 21,887,272 (GRCm39) S34P probably damaging Het
Or2b4 A G 17: 38,116,452 (GRCm39) K139E probably benign Het
Or4a74 T C 2: 89,440,272 (GRCm39) Y58C probably damaging Het
Or4c108 A G 2: 88,803,497 (GRCm39) V246A probably damaging Het
Or4p22 T A 2: 88,317,973 (GRCm39) V299D probably damaging Het
Or8d1 A G 9: 38,766,538 (GRCm39) Y60C probably damaging Het
Pabpc2 T A 18: 39,906,963 (GRCm39) V76D possibly damaging Het
Parp9 T C 16: 35,774,071 (GRCm39) W348R probably benign Het
Pdp1 T C 4: 11,961,004 (GRCm39) T455A probably damaging Het
Phactr2 A C 10: 13,122,783 (GRCm39) D446E possibly damaging Het
Pi4kb T C 3: 94,901,500 (GRCm39) L389P probably damaging Het
Pla2g4f C T 2: 120,131,476 (GRCm39) R749H probably benign Het
Plec A G 15: 76,059,974 (GRCm39) V3321A probably damaging Het
Plod2 T C 9: 92,466,580 (GRCm39) V180A probably damaging Het
Plppr5 A G 3: 117,414,618 (GRCm39) I80V probably damaging Het
Potefam3d T G 8: 69,975,316 (GRCm39) D50A probably benign Het
Rubcn T C 16: 32,687,293 (GRCm39) probably null Het
Sacs T C 14: 61,446,255 (GRCm39) V2767A probably damaging Het
Selenbp2 C G 3: 94,611,133 (GRCm39) Y414* probably null Het
Slc45a4 A T 15: 73,458,259 (GRCm39) M430K probably benign Het
Smg1 A G 7: 117,782,020 (GRCm39) L1145P possibly damaging Het
Spns2 A G 11: 72,347,742 (GRCm39) V316A probably benign Het
Srl T A 16: 4,300,811 (GRCm39) E753D probably damaging Het
Thada T C 17: 84,771,794 (GRCm39) T23A possibly damaging Het
Tmem231 T C 8: 112,660,308 (GRCm39) T31A probably benign Het
Tpr C T 1: 150,321,929 (GRCm39) T2321M possibly damaging Het
Ttn T A 2: 76,772,195 (GRCm39) N2615I unknown Het
Vmn1r41 A G 6: 89,724,034 (GRCm39) I192V probably benign Het
Vmn2r83 A T 10: 79,316,001 (GRCm39) T466S probably benign Het
Vnn1 A G 10: 23,770,952 (GRCm39) D60G probably benign Het
Wiz G A 17: 32,578,139 (GRCm39) P449S probably benign Het
Zic1 A G 9: 91,246,785 (GRCm39) S96P probably damaging Het
Zw10 T A 9: 48,981,012 (GRCm39) S471T probably benign 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
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'- GTCACTGCTCTTGACTCGAAG -3'
(R):5'- CTCGAGCTCATAACGTTCCAG -3'

Sequencing Primer
(F):5'- TGCTCTTGACTCGAAGAACAACAG -3'
(R):5'- GAGCTCATAACGTTCCAGTACTG -3'
Posted On 2019-06-26