Incidental Mutation 'IGL03365:Eif1b'
ID420037
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Eif1b
Ensembl Gene ENSMUSG00000006941
Gene Nameeukaryotic translation initiation factor 1B
Synonyms1500010M16Rik, 3110001N14Rik
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.708) question?
Stock #IGL03365
Quality Score
Status
Chromosome9
Chromosomal Location120492232-120495330 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 120494120 bp
ZygosityHeterozygous
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]
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: 24,997,811 probably benign Het
5830411N06Rik T A 7: 140,296,769 V691E probably damaging Het
Adam6a T A 12: 113,544,145 I46N possibly damaging Het
Adipor1 A G 1: 134,431,642 D371G possibly damaging Het
Akr1c21 C T 13: 4,583,852 P307S probably benign Het
Asxl1 T A 2: 153,401,754 I1408N probably damaging Het
Avil T C 10: 127,010,983 V472A probably damaging Het
Bpifa6 C A 2: 153,989,284 Q257K possibly damaging Het
Cacna2d4 G T 6: 119,271,264 V380L probably benign Het
Clip1 A C 5: 123,583,586 S1111A probably damaging Het
Dennd4c A G 4: 86,807,426 probably null Het
Dock8 C T 19: 25,099,684 P506L possibly damaging Het
Ecsit A C 9: 22,076,526 H72Q probably damaging Het
Enpp1 A G 10: 24,669,025 Y319H probably damaging Het
Fam126a A T 5: 23,983,160 Y245N probably benign Het
Fat3 T C 9: 15,996,469 N2746D probably damaging Het
Fgf20 G T 8: 40,279,891 L115I possibly damaging Het
Hip1r C T 5: 124,000,167 R775W probably damaging Het
Lrp12 A T 15: 39,872,521 S672T probably benign Het
Morf4l2 A G X: 136,733,715 Y255H probably benign Het
Mri1 A G 8: 84,251,633 V343A possibly damaging Het
Mybphl T A 3: 108,364,998 M1K probably null Het
Nelfcd G A 2: 174,426,832 A559T possibly damaging Het
Ofd1 C A X: 166,392,516 V951F probably damaging Het
Olfr1301 G T 2: 111,754,427 M59I possibly damaging Het
Olfr550 G T 7: 102,578,629 V45F probably benign Het
Olfr784 T A 10: 129,388,239 V202D possibly damaging Het
Parp12 G A 6: 39,102,647 R310W probably damaging Het
Pcdh11x T A X: 120,516,238 D1019E probably benign Het
Ppp1r9a T A 6: 5,110,993 probably benign Het
Ptprz1 T A 6: 23,030,582 probably benign Het
Qser1 T A 2: 104,786,999 N1156I probably damaging Het
Rgs3 T A 4: 62,689,675 D59E probably benign Het
Rims2 T C 15: 39,476,541 F917S probably damaging Het
Sap30bp G A 11: 115,964,252 V263M possibly damaging Het
Scfd2 G T 5: 74,530,935 H229N possibly damaging Het
Sspo T C 6: 48,459,415 V1233A possibly damaging Het
Stam T A 2: 14,146,390 Y519* probably null Het
Svs1 A G 6: 48,988,597 D513G probably damaging Het
Synj2 A G 17: 6,019,404 T602A probably damaging Het
Tas2r126 C T 6: 42,435,457 A308V probably benign Het
Tm4sf20 T C 1: 82,768,227 probably benign Het
Ttc23 G A 7: 67,662,337 probably benign Het
Vmn1r90 T C 7: 14,561,304 I290V probably damaging Het
Xirp1 A C 9: 120,018,539 L426W probably damaging Het
Zgrf1 T G 3: 127,598,774 F430L possibly damaging Het
Other mutations in Eif1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00754:Eif1b APN 9 120494620 missense probably benign 0.15
R2109:Eif1b UTSW 9 120494230 missense probably benign 0.00
R6291:Eif1b UTSW 9 120494140 missense probably benign 0.36
Posted On2016-08-02