|List |< first << previous [record 64 of 65] next >> last >||
|Institutional Source||Beutler Lab|
|Gene Name||zinc finger protein 397|
|Is this an essential gene?||Probably non essential (E-score: 0.082)|
|Stock #||R8213 (G1)|
|Chromosomal Location||23954692-23964673 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 23960722 bp|
|Amino Acid Change||Asparagine to Lysine at position 421 (N421K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000057253 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000060762]|
|Predicted Effect||probably damaging
AA Change: N421K
PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
AA Change: N421K
|Meta Mutation Damage Score||0.2088|
|Coding Region Coverage||
|Validation Efficiency||98% (65/66)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with a N-terminal SCAN domain, and the longer isoform contains nine C2H2-type zinc finger repeats in the C-terminal domain. The protein localizes to centromeres during interphase and early prophase, and different isoforms can repress or activate transcription in transfection studies. Multiple transcript variants encoding different isoforms have been found for this gene. Additional variants have been described, but their biological validity has not been determined. [provided by RefSeq, Oct 2009]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Zfp397||
(F):5'- CCATCTTGATGAATCTCAAAGATGC -3'
(R):5'- ACCTGTGCCTAAAAGCCTTC -3'
(F):5'- TGGAAAGGCCTTCAATCAGAGCTC -3'
(R):5'- ATATATACGCTTCATCCCCAGAGTGG -3'