Incidental Mutation 'IGL03365:Eif1b'
ID 420037
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Eif1b
Ensembl Gene ENSMUSG00000006941
Gene Name eukaryotic translation initiation factor 1B
Synonyms 1500010M16Rik, 3110001N14Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03365
Quality Score
Status
Chromosome 9
Chromosomal Location 120321672-120324393 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 120323186 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 15 (D15E)
Ref Sequence ENSEMBL: ENSMUSP00000149825 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007139] [ENSMUST00000217553]
AlphaFold Q9CXU9
Predicted Effect probably benign
Transcript: ENSMUST00000007139
AA Change: D15E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000007139
Gene: ENSMUSG00000006941
AA Change: D15E

DomainStartEndE-ValueType
Pfam:SUI1 27 103 1.3e-30 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213677
Predicted Effect probably benign
Transcript: ENSMUST00000217553
AA Change: D15E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500035N22Rik T G 5: 25,202,809 (GRCm39) probably benign Het
Adam6a T A 12: 113,507,765 (GRCm39) I46N possibly damaging Het
Adipor1 A G 1: 134,359,380 (GRCm39) D371G possibly damaging Het
Akr1c21 C T 13: 4,633,851 (GRCm39) P307S probably benign Het
Aoc1l3 A G 6: 48,965,531 (GRCm39) D513G probably damaging Het
Asxl1 T A 2: 153,243,674 (GRCm39) I1408N probably damaging Het
Avil T C 10: 126,846,852 (GRCm39) V472A probably damaging Het
Bpifa6 C A 2: 153,831,204 (GRCm39) Q257K possibly damaging Het
Cacna2d4 G T 6: 119,248,225 (GRCm39) V380L probably benign Het
Clip1 A C 5: 123,721,649 (GRCm39) S1111A probably damaging Het
Dennd4c A G 4: 86,725,663 (GRCm39) probably null Het
Dock8 C T 19: 25,077,048 (GRCm39) P506L possibly damaging Het
Ecsit A C 9: 21,987,822 (GRCm39) H72Q probably damaging Het
Enpp1 A G 10: 24,544,923 (GRCm39) Y319H probably damaging Het
Fat3 T C 9: 15,907,765 (GRCm39) N2746D probably damaging Het
Fgf20 G T 8: 40,732,932 (GRCm39) L115I possibly damaging Het
Hip1r C T 5: 124,138,230 (GRCm39) R775W probably damaging Het
Hycc1 A T 5: 24,188,158 (GRCm39) Y245N probably benign Het
Lrp12 A T 15: 39,735,917 (GRCm39) S672T probably benign Het
Morf4l2 A G X: 135,634,464 (GRCm39) Y255H probably benign Het
Mri1 A G 8: 84,978,262 (GRCm39) V343A possibly damaging Het
Mybphl T A 3: 108,272,314 (GRCm39) M1K probably null Het
Nelfcd G A 2: 174,268,625 (GRCm39) A559T possibly damaging Het
Ofd1 C A X: 165,175,512 (GRCm39) V951F probably damaging Het
Or4k51 G T 2: 111,584,772 (GRCm39) M59I possibly damaging Het
Or51r1 G T 7: 102,227,836 (GRCm39) V45F probably benign Het
Or6c208 T A 10: 129,224,108 (GRCm39) V202D possibly damaging Het
Parp12 G A 6: 39,079,581 (GRCm39) R310W probably damaging Het
Pcdh11x T A X: 119,425,935 (GRCm39) D1019E probably benign Het
Ppp1r9a T A 6: 5,110,993 (GRCm39) probably benign Het
Ptprz1 T A 6: 23,030,581 (GRCm39) probably benign Het
Qser1 T A 2: 104,617,344 (GRCm39) N1156I probably damaging Het
Rgs3 T A 4: 62,607,912 (GRCm39) D59E probably benign Het
Rims2 T C 15: 39,339,937 (GRCm39) F917S probably damaging Het
Sap30bp G A 11: 115,855,078 (GRCm39) V263M possibly damaging Het
Scart2 T A 7: 139,876,682 (GRCm39) V691E probably damaging Het
Scfd2 G T 5: 74,691,596 (GRCm39) H229N possibly damaging Het
Sspo T C 6: 48,436,349 (GRCm39) V1233A possibly damaging Het
Stam T A 2: 14,151,201 (GRCm39) Y519* probably null Het
Synj2 A G 17: 6,069,679 (GRCm39) T602A probably damaging Het
Tas2r126 C T 6: 42,412,391 (GRCm39) A308V probably benign Het
Tm4sf20 T C 1: 82,745,948 (GRCm39) probably benign Het
Ttc23 G A 7: 67,312,085 (GRCm39) probably benign Het
Vmn1r90 T C 7: 14,295,229 (GRCm39) I290V probably damaging Het
Xirp1 A C 9: 119,847,605 (GRCm39) L426W probably damaging Het
Zgrf1 T G 3: 127,392,423 (GRCm39) F430L possibly damaging Het
Other mutations in Eif1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00754:Eif1b APN 9 120,323,686 (GRCm39) missense probably benign 0.15
R2109:Eif1b UTSW 9 120,323,296 (GRCm39) missense probably benign 0.00
R6291:Eif1b UTSW 9 120,323,206 (GRCm39) missense probably benign 0.36
R7662:Eif1b UTSW 9 120,323,277 (GRCm39) missense possibly damaging 0.60
R9674:Eif1b UTSW 9 120,323,265 (GRCm39) missense possibly damaging 0.86
Posted On 2016-08-02