|Institutional Source||Beutler Lab|
|Gene Name||Kin17 DNA and RNA binding protein|
|Is this an essential gene?||Probably essential (E-score: 0.959)|
|Stock #||R7209 (G1)|
|Chromosomal Location||10080593-10092806 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 10091753 bp|
|Amino Acid Change||Tyrosine to Histidine at position 138 (Y138H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000043614 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000042290] [ENSMUST00000042512]|
|Predicted Effect||probably benign
|Predicted Effect||possibly damaging
AA Change: Y138H
PolyPhen 2 Score 0.457 (Sensitivity: 0.89; Specificity: 0.90)
AA Change: Y138H
|Coding Region Coverage||
|Validation Efficiency||100% (67/67)|
|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 a nuclear protein that forms intranuclear foci during proliferation and is redistributed in the nucleoplasm during the cell cycle. Short-wave ultraviolet light provokes the relocalization of the protein, suggesting its participation in the cellular response to DNA damage. Originally selected based on protein-binding with RecA antibodies, the mouse protein presents a limited similarity with a functional domain of the bacterial RecA protein, a characteristic shared by this human ortholog. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Kin||
(F):5'- AGCACTGTCCATCTCAGGTC -3'
(R):5'- CGCTCCTTTATTCAGATTGAACG -3'
(F):5'- GTCTGTGTGGACCAAGATCC -3'
(R):5'- CAGATTGAACGTAACTTTTTCTTCC -3'