Incidental Mutation 'IGL03238:Eif2b2'
ID414181
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Eif2b2
Ensembl Gene ENSMUSG00000004788
Gene Nameeukaryotic translation initiation factor 2B, subunit 2 beta
SynonymsEIF2B, EIF-2Bbeta
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03238
Quality Score
Status
Chromosome12
Chromosomal Location85219481-85226628 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 85223399 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 238 (T238A)
Ref Sequence ENSEMBL: ENSMUSP00000004910 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004910] [ENSMUST00000136495] [ENSMUST00000140900]
Predicted Effect probably benign
Transcript: ENSMUST00000004910
AA Change: T238A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000004910
Gene: ENSMUSG00000004788
AA Change: T238A

DomainStartEndE-ValueType
Pfam:IF-2B 27 333 3.2e-91 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128709
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130760
Predicted Effect probably benign
Transcript: ENSMUST00000136495
SMART Domains Protein: ENSMUSP00000122720
Gene: ENSMUSG00000004788

DomainStartEndE-ValueType
Pfam:IF-2B 27 232 2e-51 PFAM
Pfam:IF-2B 229 287 4.7e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000140900
SMART Domains Protein: ENSMUSP00000122954
Gene: ENSMUSG00000004788

DomainStartEndE-ValueType
Pfam:IF-2B 27 228 1.7e-51 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150935
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151925
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes the beta subunit of eukaryotic initiation factor-2B (EIF2B). EIF2B is involved in protein synthesis and exchanges GDP and GTP for its activation and deactivation. Mutations in the human gene are associated with ovarioleukodystrophy and leukoencephalopathy with vanishing white matter. [provided by RefSeq, Sep 2015]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2 A C 3: 60,024,918 T285P probably benign Het
Abcf1 T C 17: 35,963,323 K186E probably damaging Het
Adam3 T C 8: 24,687,965 probably null Het
Art1 T C 7: 102,110,749 V85A possibly damaging Het
Ccdc110 A G 8: 45,941,822 H250R probably benign Het
Cyp3a13 T A 5: 137,898,889 I388F probably damaging Het
Dnah11 C T 12: 118,109,898 V1425M probably damaging Het
Donson G A 16: 91,681,246 Q22* probably null Het
Emc2 T A 15: 43,507,853 probably null Het
Fkbp4 A T 6: 128,434,757 V123E probably damaging Het
Frem2 A T 3: 53,656,261 M275K possibly damaging Het
Gcat T A 15: 79,036,010 probably benign Het
Gemin2 G A 12: 59,016,962 probably benign Het
Ilf3 T A 9: 21,392,350 V169E probably damaging Het
Klra17 T C 6: 129,868,810 H147R probably benign Het
Lama5 A G 2: 180,188,574 I1880T probably benign Het
Lzts1 T C 8: 69,138,794 D234G probably damaging Het
Map3k4 G A 17: 12,271,158 P462L probably benign Het
March6 C A 15: 31,461,941 probably benign Het
Mcm6 A T 1: 128,355,520 F83I probably benign Het
Mtpn A G 6: 35,522,773 L32P probably damaging Het
Mybpc3 A T 2: 91,131,659 I841F probably damaging Het
Ndst2 G T 14: 20,728,504 H399N probably damaging Het
Npat G T 9: 53,570,426 V1145F probably damaging Het
Olfr65 G A 7: 103,906,510 A21T probably benign Het
P2ry1 T A 3: 61,004,495 S352T probably damaging Het
Plaa T C 4: 94,583,896 T326A probably benign Het
Ppdpf T C 2: 181,187,880 S43P probably benign Het
Prpmp5 T A 6: 132,312,345 Q172L unknown Het
Setd1a C T 7: 127,785,546 T523I possibly damaging Het
Sgcz C T 8: 37,563,140 probably null Het
Slc12a2 T C 18: 57,914,234 Y740H possibly damaging Het
Stab2 A G 10: 86,855,121 C745R probably damaging Het
Tmem101 A T 11: 102,155,785 L86Q probably damaging Het
Tmtc3 A C 10: 100,477,840 F57V probably damaging Het
Vps50 A G 6: 3,594,771 K778R possibly damaging Het
Washc5 G A 15: 59,346,842 T692M probably damaging Het
Zc3hav1 A T 6: 38,332,750 V379D probably damaging Het
Zfp142 G T 1: 74,576,278 R459S probably benign Het
Zfp512b A G 2: 181,589,760 V199A probably damaging Het
Other mutations in Eif2b2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01979:Eif2b2 APN 12 85219834 missense probably benign 0.00
IGL03156:Eif2b2 APN 12 85219721 missense probably damaging 1.00
R0471:Eif2b2 UTSW 12 85220183 missense probably benign
R0785:Eif2b2 UTSW 12 85221561 missense probably damaging 1.00
R1368:Eif2b2 UTSW 12 85223456 missense probably damaging 0.98
R1442:Eif2b2 UTSW 12 85219586 missense probably benign 0.00
R3162:Eif2b2 UTSW 12 85219661 missense probably benign
R3162:Eif2b2 UTSW 12 85219661 missense probably benign
R5931:Eif2b2 UTSW 12 85222787 missense probably damaging 1.00
R6954:Eif2b2 UTSW 12 85226043 missense probably damaging 0.98
Z1177:Eif2b2 UTSW 12 85219564 start codon destroyed probably null 0.97
Z1177:Eif2b2 UTSW 12 85223415 missense probably damaging 1.00
Posted On2016-08-02