Incidental Mutation 'R4746:Eif2b4'
ID 356719
Institutional Source Beutler Lab
Gene Symbol Eif2b4
Ensembl Gene ENSMUSG00000029145
Gene Name eukaryotic translation initiation factor 2B, subunit 4 delta
Synonyms Eif2b
MMRRC Submission 041968-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4746 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 31344902-31350483 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 31344997 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 550 (I550T)
Ref Sequence ENSEMBL: ENSMUSP00000144361 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077693] [ENSMUST00000114603] [ENSMUST00000166769] [ENSMUST00000202758] [ENSMUST00000201154]
AlphaFold Q61749
Predicted Effect probably damaging
Transcript: ENSMUST00000077693
AA Change: I508T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000076875
Gene: ENSMUSG00000029145
AA Change: I508T

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 damaging
Transcript: ENSMUST00000114603
AA Change: I528T

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000110250
Gene: ENSMUSG00000029145
AA Change: I528T

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 damaging
Transcript: ENSMUST00000166769
AA Change: I528T

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000130880
Gene: ENSMUSG00000029145
AA Change: I528T

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 unknown
Transcript: ENSMUST00000200724
AA Change: I228T
Predicted Effect probably benign
Transcript: ENSMUST00000200741
Predicted Effect probably benign
Transcript: ENSMUST00000200929
Predicted Effect probably damaging
Transcript: ENSMUST00000202758
AA Change: I550T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000144361
Gene: ENSMUSG00000029145
AA Change: I550T

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: ENSMUST00000202616
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200983
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202468
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: ENSMUST00000200977
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.4%
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6820408C15Rik G A 2: 152,282,685 (GRCm39) S180N probably benign Het
Atp5f1a G T 18: 77,866,442 (GRCm39) G165V probably benign Het
Cbfa2t2 A C 2: 154,365,845 (GRCm39) M352L possibly damaging Het
Ccser2 A T 14: 36,631,082 (GRCm39) D98E probably damaging Het
Cfap20 A G 8: 96,148,684 (GRCm39) probably null Het
Chuk A T 19: 44,077,210 (GRCm39) C379S possibly damaging Het
Cic G A 7: 24,987,905 (GRCm39) G1531E probably damaging Het
Ckap4 A G 10: 84,369,384 (GRCm39) V116A possibly damaging Het
Cxcl13 A G 5: 96,107,756 (GRCm39) K71E probably damaging Het
Dmxl2 A T 9: 54,359,080 (GRCm39) I210N probably benign Het
Donson A C 16: 91,479,125 (GRCm39) V397G probably damaging Het
Dpy19l1 C A 9: 24,361,966 (GRCm39) V332L probably benign Het
Dsp T C 13: 38,379,080 (GRCm39) S1343P possibly damaging Het
Egflam A G 15: 7,254,120 (GRCm39) probably null Het
Fbxo47 A T 11: 97,770,254 (GRCm39) V46D probably benign Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
Folr1 T A 7: 101,513,184 (GRCm39) D37V probably damaging Het
Gm17333 AAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA AAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA 16: 77,649,766 (GRCm39) noncoding transcript Het
Gnb1 C A 4: 155,627,531 (GRCm39) A104E probably damaging Het
Gnptg ATTGTTGATGATTT AT 17: 25,454,571 (GRCm39) probably benign Het
Htra4 A T 8: 25,523,713 (GRCm39) V284E probably damaging Het
Igkv3-3 A T 6: 70,664,308 (GRCm39) D50V probably benign Het
Irs3 A G 5: 137,642,209 (GRCm39) S410P probably benign Het
Kif26b C T 1: 178,701,546 (GRCm39) Q642* probably null Het
Klhl11 A T 11: 100,355,176 (GRCm39) M215K probably benign Het
Lamc3 A G 2: 31,795,626 (GRCm39) N337S possibly damaging Het
Lrrc55 G A 2: 85,026,514 (GRCm39) A170V probably damaging Het
Marchf3 A T 18: 56,909,144 (GRCm39) W214R probably damaging Het
Megf11 A C 9: 64,416,027 (GRCm39) T79P probably damaging Het
Mia3 A G 1: 183,126,663 (GRCm39) V26A possibly damaging Het
Myrf A G 19: 10,195,955 (GRCm39) F353S probably damaging Het
Obscn A G 11: 58,970,634 (GRCm39) probably null Het
Ocstamp T C 2: 165,238,208 (GRCm39) K352R probably benign Het
Or2t35 A T 14: 14,407,359 (GRCm38) I46F probably benign Het
Or8b12 G T 9: 37,657,453 (GRCm39) V8L probably benign Het
Osbpl3 T C 6: 50,305,654 (GRCm39) N434S probably damaging Het
Pign A C 1: 105,512,749 (GRCm39) L645V probably benign Het
Polr1has A T 17: 37,275,765 (GRCm39) I116L probably benign Het
Polr2a A G 11: 69,626,500 (GRCm39) S1540P probably benign Het
Ppp2r3c A T 12: 55,349,420 (GRCm39) probably null Het
Ptprf A G 4: 118,082,236 (GRCm39) V414A possibly damaging Het
Pyroxd2 G A 19: 42,740,839 (GRCm39) R22* probably null Het
Rab11fip2 G A 19: 59,925,542 (GRCm39) A225V probably damaging Het
Ranbp2 C T 10: 58,328,492 (GRCm39) A2836V probably damaging Het
Rimklb G A 6: 122,449,591 (GRCm39) R28* probably null Het
Scyl3 G A 1: 163,776,820 (GRCm39) R404Q probably damaging Het
Slc9a8 A T 2: 167,283,090 (GRCm39) K79* probably null Het
Sowaha A T 11: 53,370,163 (GRCm39) probably null Het
Tnk1 A G 11: 69,745,992 (GRCm39) V311A probably damaging Het
Tnrc6a T A 7: 122,789,220 (GRCm39) S1680T probably damaging Het
Tpp1 T C 7: 105,398,158 (GRCm39) Y335C probably damaging Het
Ttc39b A G 4: 83,162,340 (GRCm39) V308A probably benign Het
Ttll3 A C 6: 113,384,353 (GRCm39) Q557P probably damaging Het
Ulk3 G A 9: 57,500,201 (GRCm39) A266T probably benign Het
Wfdc6b C A 2: 164,459,353 (GRCm39) C138* 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
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'- GCCTGGAGCTAAACACCTTG -3'
(R):5'- TGCTAAAAGGATGTTGACACCCAC -3'

Sequencing Primer
(F):5'- GGGTTTCCATAGACAAGTTCAAG -3'
(R):5'- AAGGATGTTGACACCCACTTGTC -3'
Posted On 2015-11-11