Incidental Mutation 'R8943:Eif2b3'
ID 681086
Institutional Source Beutler Lab
Gene Symbol Eif2b3
Ensembl Gene ENSMUSG00000028683
Gene Name eukaryotic translation initiation factor 2B, subunit 3
Synonyms 1190002P15Rik
MMRRC Submission 068782-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8943 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 116876559-116944049 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 116901778 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Glutamic Acid at position 147 (G147E)
Ref Sequence ENSEMBL: ENSMUSP00000102055 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070610] [ENSMUST00000106447] [ENSMUST00000106448]
AlphaFold B1AUN2
Predicted Effect probably damaging
Transcript: ENSMUST00000070610
AA Change: G147E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000070334
Gene: ENSMUSG00000028683
AA Change: G147E

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 probably damaging
Transcript: ENSMUST00000106447
AA Change: G147E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000102055
Gene: ENSMUSG00000028683
AA Change: G147E

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 possibly damaging
Transcript: ENSMUST00000106448
AA Change: G147E

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000102056
Gene: ENSMUSG00000028683
AA Change: G147E

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency 98% (50/51)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik T C 7: 41,275,667 (GRCm39) S457P probably damaging Het
Aak1 A G 6: 86,964,234 (GRCm39) N945S unknown Het
Actr1a C A 19: 46,369,438 (GRCm39) R192L possibly damaging Het
Adgrl2 T A 3: 148,534,119 (GRCm39) N1036I probably damaging Het
Ak5 A G 3: 152,361,511 (GRCm39) V137A probably damaging Het
Aldh1a2 T C 9: 71,169,055 (GRCm39) V179A probably damaging Het
Ap2b1 A T 11: 83,237,579 (GRCm39) I548F probably damaging Het
Arhgef10l A G 4: 140,292,550 (GRCm39) Y352H probably damaging Het
Atad5 C T 11: 79,986,524 (GRCm39) T537M possibly damaging Het
Atoh7 A G 10: 62,935,938 (GRCm39) K2E possibly damaging Het
BC061237 A G 14: 44,741,658 (GRCm39) I134V probably benign Het
Cadm1 T C 9: 47,701,136 (GRCm39) I141T probably damaging Het
Capn10 T C 1: 92,871,454 (GRCm39) S351P probably damaging Het
Cct6b T C 11: 82,654,959 (GRCm39) probably benign Het
Cd19 T C 7: 126,011,330 (GRCm39) T284A probably benign Het
Cfap53 A G 18: 74,432,253 (GRCm39) Y47C probably damaging Het
Cldn18 T C 9: 99,578,162 (GRCm39) M194V probably benign Het
Dgkb T A 12: 38,652,777 (GRCm39) Y721N probably damaging Het
Dmbt1 A G 7: 130,721,372 (GRCm39) Q1880R possibly damaging Het
Dock2 T C 11: 34,599,646 (GRCm39) N311S possibly damaging Het
Dpysl5 G T 5: 30,935,375 (GRCm39) M159I probably benign Het
Fam193a A G 5: 34,597,796 (GRCm39) D531G probably benign Het
Fndc3b T C 3: 27,555,329 (GRCm39) probably benign Het
Foxe3 C A 4: 114,782,523 (GRCm39) A230S unknown Het
Gm5591 A T 7: 38,219,727 (GRCm39) V382E probably benign Het
Gm7995 A T 14: 42,132,228 (GRCm39) N21I probably damaging Het
Ipo8 G A 6: 148,676,547 (GRCm39) P981S probably benign Het
Kcnh8 A G 17: 53,104,486 (GRCm39) D161G probably benign Het
Krt71 A G 15: 101,645,180 (GRCm39) I377T possibly damaging Het
Krt75 A T 15: 101,476,767 (GRCm39) M374K probably benign Het
Krt9 TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC 11: 100,079,903 (GRCm39) probably benign Het
Lpcat1 A G 13: 73,662,029 (GRCm39) T409A probably benign Het
Lrch1 A T 14: 75,032,808 (GRCm39) I514K probably benign Het
Mc4r A C 18: 66,993,110 (GRCm39) M1R probably null Het
Mthfd1l A T 10: 3,978,466 (GRCm39) H442L probably damaging Het
Or5d38 T A 2: 87,954,718 (GRCm39) I204F probably damaging Het
Pdcd1lg2 T C 19: 29,423,553 (GRCm39) M199T probably benign Het
Pigg G A 5: 108,484,066 (GRCm39) V438M probably damaging Het
Pira12 T C 7: 3,898,365 (GRCm39) E319G probably benign Het
Ppfibp1 T A 6: 146,920,681 (GRCm39) probably null Het
Rbm15 T A 3: 107,239,372 (GRCm39) Y342F possibly damaging Het
Rhbdl1 A T 17: 26,054,116 (GRCm39) V278E probably damaging Het
Ryr3 T C 2: 112,465,669 (GRCm39) N4781S probably damaging Het
Scn7a A T 2: 66,525,206 (GRCm39) silent Het
Sfswap A G 5: 129,581,168 (GRCm39) R114G probably damaging Het
Sohlh2 C A 3: 55,104,282 (GRCm39) A258D possibly damaging Het
Sstr4 T A 2: 148,237,782 (GRCm39) V131D possibly damaging Het
Tenm2 T C 11: 36,834,861 (GRCm39) T45A probably damaging Het
Tmem131l A T 3: 83,831,479 (GRCm39) F818I probably damaging Het
Trappc6b A G 12: 59,097,149 (GRCm39) F58L probably damaging Het
Vmn1r229 A T 17: 21,035,418 (GRCm39) H221L possibly damaging Het
Vmn1r33 T A 6: 66,588,783 (GRCm39) Y257F probably damaging Het
Wdfy3 T C 5: 101,993,231 (GRCm39) probably benign Het
Zfp446 C T 7: 12,713,564 (GRCm39) Q177* probably null Het
Zup1 A G 10: 33,795,301 (GRCm39) *552Q probably null 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
R6361:Eif2b3 UTSW 4 116,885,622 (GRCm39) missense possibly damaging 0.66
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
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'- TGCCCTAGCACAATTCCATTAG -3'
(R):5'- CCACAGGTTTGGTATGCATG -3'

Sequencing Primer
(F):5'- TGAGTGAGTGAATGAGTGATACTTAC -3'
(R):5'- CACAGGTTTGGTATGCATGGAAATG -3'
Posted On 2021-08-31