Incidental Mutation 'R6361:Eif2b3'
ID 513110
Institutional Source Beutler Lab
Gene Symbol Eif2b3
Ensembl Gene ENSMUSG00000028683
Gene Name eukaryotic translation initiation factor 2B, subunit 3
Synonyms 1190002P15Rik
MMRRC Submission 044511-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6361 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 116876559-116944049 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 116885622 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 55 (T55A)
Ref Sequence ENSEMBL: ENSMUSP00000102055 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070610] [ENSMUST00000106447] [ENSMUST00000106448]
AlphaFold B1AUN2
Predicted Effect possibly damaging
Transcript: ENSMUST00000070610
AA Change: T55A

PolyPhen 2 Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000070334
Gene: ENSMUSG00000028683
AA Change: T55A

DomainStartEndE-ValueType
Pfam:NTP_transferase 4 139 8.2e-20 PFAM
Pfam:NTP_transf_3 5 226 8.5e-19 PFAM
low complexity region 247 262 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000106447
AA Change: T55A

PolyPhen 2 Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000102055
Gene: ENSMUSG00000028683
AA Change: T55A

DomainStartEndE-ValueType
Pfam:NTP_transferase 4 139 1.1e-19 PFAM
Pfam:NTP_transf_3 5 221 1.7e-18 PFAM
low complexity region 247 262 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106448
AA Change: T55A

PolyPhen 2 Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000102056
Gene: ENSMUSG00000028683
AA Change: T55A

DomainStartEndE-ValueType
Pfam:NTP_transferase 4 140 3.2e-19 PFAM
Pfam:NTP_transf_3 5 237 3.7e-18 PFAM
low complexity region 247 262 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157724
Meta Mutation Damage Score 0.0780 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.3%
Validation Efficiency 98% (43/44)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is one of the subunits of initiation factor eIF2B, which catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP. It has also been found to function as a cofactor of hepatitis C virus internal ribosome entry site-mediated translation. Mutations in this gene have been associated with leukodystrophy with vanishing white matter. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asap1 C T 15: 64,221,672 (GRCm39) probably null Het
Cabin1 G A 10: 75,562,699 (GRCm39) A29V possibly damaging Het
Cadps G A 14: 12,491,778 (GRCm38) Q791* probably null Het
Cdc14b T C 13: 64,364,023 (GRCm39) probably null Het
Cep89 C T 7: 35,097,472 (GRCm39) P33S probably damaging Het
Clec18a A G 8: 111,807,661 (GRCm39) probably benign Het
Cln5 T A 14: 103,313,637 (GRCm39) D296E probably benign Het
Col6a4 A T 9: 105,943,902 (GRCm39) S1191T probably benign Het
Crispld1 A G 1: 17,832,455 (GRCm39) I480M probably damaging Het
Dhrs7 A C 12: 72,711,433 (GRCm39) L32V probably damaging Het
Dscam T C 16: 96,424,011 (GRCm39) T1645A probably benign Het
Ercc6 T C 14: 32,239,067 (GRCm39) Y52H probably benign Het
Fam170b C A 14: 32,558,028 (GRCm39) Q288K unknown Het
Flt4 A G 11: 49,521,405 (GRCm39) T442A probably benign Het
Gm19402 A T 10: 77,525,895 (GRCm39) probably benign Het
Gm4841 A G 18: 60,403,832 (GRCm39) I87T probably damaging Het
Hspb7 A G 4: 141,149,860 (GRCm39) E82G possibly damaging Het
Itgb3 A G 11: 104,556,408 (GRCm39) K750E possibly damaging Het
Itsn2 A G 12: 4,679,655 (GRCm39) M155V probably benign Het
Marchf8 A T 6: 116,379,062 (GRCm39) D332V probably null Het
Mst1r A G 9: 107,793,052 (GRCm39) M1042V probably benign Het
Muc4 T C 16: 32,587,725 (GRCm39) F2756L probably benign Het
Myl6b T A 10: 128,333,078 (GRCm39) K55* probably null Het
Or1j19 A G 2: 36,676,792 (GRCm39) N85S probably damaging Het
Or4c123 A T 2: 89,126,990 (GRCm39) I208N probably damaging Het
Or4k51 G T 2: 111,584,940 (GRCm39) L115F probably damaging Het
Or7g18 T C 9: 18,787,027 (GRCm39) Y132H probably damaging Het
Or8g50 A C 9: 39,648,968 (GRCm39) N286H probably damaging Het
Pcca A G 14: 122,875,794 (GRCm39) D141G probably benign Het
Pkd2 C T 5: 104,634,546 (GRCm39) R526* probably null Het
Polr2a C A 11: 69,634,163 (GRCm39) A756S probably damaging Het
Prkd2 T C 7: 16,581,579 (GRCm39) S145P probably damaging Het
Rhbdf1 T C 11: 32,162,915 (GRCm39) N451D possibly damaging Het
Rundc3a G A 11: 102,291,621 (GRCm39) R358Q probably damaging Het
Spata31g1 A T 4: 42,972,695 (GRCm39) D676V probably benign Het
Spef1l T A 7: 139,556,585 (GRCm39) D134V possibly damaging Het
Tbc1d4 T C 14: 101,744,610 (GRCm39) K339E probably damaging Het
Usp37 A G 1: 74,493,052 (GRCm39) I723T probably benign Het
Vwa2 A T 19: 56,889,958 (GRCm39) probably null Het
Zdbf2 A C 1: 63,342,480 (GRCm39) R286S possibly damaging Het
Zfp422 G A 6: 116,603,781 (GRCm39) H73Y probably damaging Het
Zfp868 T C 8: 70,064,564 (GRCm39) H257R probably damaging Het
Zzef1 A G 11: 72,775,175 (GRCm39) S1723G possibly damaging Het
Other mutations in Eif2b3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00764:Eif2b3 APN 4 116,923,666 (GRCm39) missense probably benign
IGL01333:Eif2b3 APN 4 116,927,887 (GRCm39) missense probably benign 0.31
IGL01564:Eif2b3 APN 4 116,885,739 (GRCm39) missense probably benign 0.00
IGL01721:Eif2b3 APN 4 116,916,001 (GRCm39) missense probably damaging 1.00
IGL02061:Eif2b3 APN 4 116,885,608 (GRCm39) missense possibly damaging 0.78
Cambio UTSW 4 116,923,578 (GRCm39) nonsense probably null
mogrify UTSW 4 116,885,622 (GRCm39) missense possibly damaging 0.66
R0835:Eif2b3 UTSW 4 116,916,002 (GRCm39) missense probably damaging 1.00
R0924:Eif2b3 UTSW 4 116,938,775 (GRCm39) missense possibly damaging 0.93
R2167:Eif2b3 UTSW 4 116,885,737 (GRCm39) missense probably damaging 1.00
R2424:Eif2b3 UTSW 4 116,928,045 (GRCm39) missense probably benign 0.01
R3902:Eif2b3 UTSW 4 116,879,404 (GRCm39) missense probably damaging 1.00
R4105:Eif2b3 UTSW 4 116,938,831 (GRCm39) missense probably damaging 1.00
R4688:Eif2b3 UTSW 4 116,916,046 (GRCm39) missense probably benign 0.03
R4998:Eif2b3 UTSW 4 116,923,589 (GRCm39) missense probably benign 0.06
R5033:Eif2b3 UTSW 4 116,909,933 (GRCm39) missense probably damaging 1.00
R5123:Eif2b3 UTSW 4 116,879,408 (GRCm39) missense probably damaging 1.00
R5493:Eif2b3 UTSW 4 116,943,919 (GRCm39) missense possibly damaging 0.92
R5787:Eif2b3 UTSW 4 116,901,637 (GRCm39) missense probably damaging 1.00
R5789:Eif2b3 UTSW 4 116,885,692 (GRCm39) missense probably damaging 1.00
R6347:Eif2b3 UTSW 4 116,901,763 (GRCm39) missense probably benign 0.05
R6643:Eif2b3 UTSW 4 116,927,954 (GRCm39) missense probably damaging 0.97
R6798:Eif2b3 UTSW 4 116,923,655 (GRCm39) missense probably benign 0.00
R7299:Eif2b3 UTSW 4 116,910,019 (GRCm39) missense probably benign 0.27
R7301:Eif2b3 UTSW 4 116,910,019 (GRCm39) missense probably benign 0.27
R7451:Eif2b3 UTSW 4 116,909,993 (GRCm39) nonsense probably null
R7934:Eif2b3 UTSW 4 116,923,675 (GRCm39) missense probably benign
R8117:Eif2b3 UTSW 4 116,879,414 (GRCm39) missense probably damaging 0.98
R8725:Eif2b3 UTSW 4 116,927,944 (GRCm39) missense probably benign 0.01
R8727:Eif2b3 UTSW 4 116,927,944 (GRCm39) missense probably benign 0.01
R8816:Eif2b3 UTSW 4 116,928,052 (GRCm39) missense probably benign
R8943:Eif2b3 UTSW 4 116,901,778 (GRCm39) missense probably damaging 0.99
R9141:Eif2b3 UTSW 4 116,923,578 (GRCm39) nonsense probably null
R9426:Eif2b3 UTSW 4 116,923,578 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- AGGCTCAGTCATATTAGCATTTATCAT -3'
(R):5'- ACATACAAAGCACTGTCAAATAAGAT -3'

Sequencing Primer
(F):5'- GATTCTATACGCTGGCTTTGAAC -3'
(R):5'- AATCTGCAGTCCCCATGT -3'
Posted On 2018-04-27