|Institutional Source||Beutler Lab|
|Gene Name||CBP80/20-dependent translation initiation factor|
|Is this an essential gene?||Probably non essential (E-score: 0.141)|
|Stock #||R7355 (G1)|
|Chromosomal Location||75431224-75697696 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 75610685 bp|
|Amino Acid Change||Histidine to Tyrosine at position 139 (H139Y)|
|Ref Sequence||ENSEMBL: ENSMUSP00000129974 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000165559]|
|Predicted Effect||probably damaging
AA Change: H139Y
PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
AA Change: H139Y
|Coding Region Coverage||
|Validation Efficiency||100% (72/72)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] CTIF is a component of the CBP80 (NCBP1; MIM 600469)/CBP20 (NCBP2; MIM 605133) translation initiation complex that binds cotranscriptionally to the cap end of nascent mRNA. The CBP80/CBP20 complex is involved in a simultaneous editing and translation step that recognizes premature termination codons (PTCs) in mRNAs and directs PTC-containing mRNAs toward nonsense-mediated decay (NMD). On mRNAs without PTCs, the CBP80/CBP20 complex is replaced with cytoplasmic mRNA cap-binding proteins, including EIF4G (MIM 600495), and steady-state translation of the mRNAs resumes in the cytoplasm (Kim et al., 2009 [PubMed 19648179]).[supplied by OMIM, Dec 2009]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ctif||
(F):5'- CAGTACACTTGCAGTCCTGG -3'
(R):5'- AGGTGAAGCCCTGATATCTTG -3'
(F):5'- ACTTGCAGTCCTGGGCTGAG -3'
(R):5'- GATATCTTGAGTTCCACCCCAAGTG -3'