Incidental Mutation 'IGL01564:Eif2b3'
ID90938
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Eif2b3
Ensembl Gene ENSMUSG00000028683
Gene Nameeukaryotic translation initiation factor 2B, subunit 3
Synonyms1190002P15Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01564
Quality Score
Status
Chromosome4
Chromosomal Location117019402-117087306 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 117028542 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 94 (Y94H)
Ref Sequence ENSEMBL: ENSMUSP00000102056 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070610] [ENSMUST00000106447] [ENSMUST00000106448]
Predicted Effect probably benign
Transcript: ENSMUST00000070610
AA Change: Y94H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000070334
Gene: ENSMUSG00000028683
AA Change: Y94H

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 benign
Transcript: ENSMUST00000106447
AA Change: Y94H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000102055
Gene: ENSMUSG00000028683
AA Change: Y94H

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: Y94H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000102056
Gene: ENSMUSG00000028683
AA Change: Y94H

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
Coding Region Coverage
Validation Efficiency
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adat3 T A 10: 80,606,859 M177K probably damaging Het
Ankrd28 G T 14: 31,755,767 T48K probably damaging Het
BC005561 A T 5: 104,520,663 Y1017F probably benign Het
Capn3 T C 2: 120,480,708 I112T probably damaging Het
Clec3a T A 8: 114,425,542 I96N probably damaging Het
Clic4 C T 4: 135,217,193 A224T probably damaging Het
Ep300 A T 15: 81,632,464 probably benign Het
Errfi1 C A 4: 150,867,030 T305N probably damaging Het
Fam131c T A 4: 141,379,673 probably null Het
Fbxo11 G A 17: 88,002,896 T494I probably benign Het
Homer2 T C 7: 81,618,572 probably null Het
Hpf1 C A 8: 60,890,479 probably benign Het
Hspa1b T C 17: 34,957,549 N487D probably benign Het
Ikbke C A 1: 131,257,921 A617S probably benign Het
Jade1 G T 3: 41,596,649 R174S possibly damaging Het
Lcmt1 T C 7: 123,404,440 F139S probably benign Het
Lipo2 T C 19: 33,721,024 T318A probably benign Het
Lrp1b C T 2: 40,677,486 probably benign Het
Lsm14a T C 7: 34,389,355 probably benign Het
Mpp2 T C 11: 102,061,519 D393G probably benign Het
Nfyb T C 10: 82,752,426 Y137C probably damaging Het
Olfr1161 A T 2: 88,025,304 H194L probably benign Het
Olfr1510 T C 14: 52,410,842 D10G probably benign Het
Olfr476 T C 7: 107,967,991 I198T probably benign Het
Scn3a A C 2: 65,461,446 I1652S probably damaging Het
Slc33a1 C T 3: 63,943,347 V519I probably benign Het
Strada G T 11: 106,173,292 N66K probably damaging Het
Tlr1 T A 5: 64,925,846 I463F probably damaging Het
Tnfrsf19 G T 14: 60,974,609 F197L possibly damaging Het
Tph1 T A 7: 46,650,881 probably benign Het
Ttn A T 2: 76,816,578 L3287H probably damaging Het
Vmn2r18 A T 5: 151,585,168 S164T possibly damaging Het
Zan C T 5: 137,446,733 V1755I unknown Het
Zmym4 T C 4: 126,911,280 I396V possibly damaging Het
Other mutations in Eif2b3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00764:Eif2b3 APN 4 117066469 missense probably benign
IGL01333:Eif2b3 APN 4 117070690 missense probably benign 0.31
IGL01721:Eif2b3 APN 4 117058804 missense probably damaging 1.00
IGL02061:Eif2b3 APN 4 117028411 missense possibly damaging 0.78
R0835:Eif2b3 UTSW 4 117058805 missense probably damaging 1.00
R0924:Eif2b3 UTSW 4 117081578 missense possibly damaging 0.93
R2167:Eif2b3 UTSW 4 117028540 missense probably damaging 1.00
R2424:Eif2b3 UTSW 4 117070848 missense probably benign 0.01
R3902:Eif2b3 UTSW 4 117022207 missense probably damaging 1.00
R4105:Eif2b3 UTSW 4 117081634 missense probably damaging 1.00
R4688:Eif2b3 UTSW 4 117058849 missense probably benign 0.03
R4998:Eif2b3 UTSW 4 117066392 missense probably benign 0.06
R5033:Eif2b3 UTSW 4 117052736 missense probably damaging 1.00
R5123:Eif2b3 UTSW 4 117022211 missense probably damaging 1.00
R5493:Eif2b3 UTSW 4 117086722 missense possibly damaging 0.92
R5787:Eif2b3 UTSW 4 117044440 missense probably damaging 1.00
R5789:Eif2b3 UTSW 4 117028495 missense probably damaging 1.00
R6347:Eif2b3 UTSW 4 117044566 missense probably benign 0.05
R6361:Eif2b3 UTSW 4 117028425 missense possibly damaging 0.66
R6643:Eif2b3 UTSW 4 117070757 missense probably damaging 0.97
R6798:Eif2b3 UTSW 4 117066458 missense probably benign 0.00
R7299:Eif2b3 UTSW 4 117052822 missense probably benign 0.27
R7301:Eif2b3 UTSW 4 117052822 missense probably benign 0.27
R7451:Eif2b3 UTSW 4 117052796 nonsense probably null
Posted On2013-12-09