|Institutional Source||Beutler Lab|
|Gene Name||zinc finger protein 606|
|Is this an essential gene?||Probably non essential (E-score: 0.102)|
|Stock #||R1680 (G1)|
|Chromosomal Location||12478293-12496235 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 12493971 bp|
|Amino Acid Change||Histidine to Leucine at position 615 (H615L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000148075 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000098822] [ENSMUST00000151933] [ENSMUST00000209403]|
|Predicted Effect||possibly damaging
AA Change: H673L
PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
AA Change: H673L
|Predicted Effect||noncoding transcript
|Predicted Effect||probably benign
|Predicted Effect||probably damaging
AA Change: H615L
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|Coding Region Coverage||
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a zinc finger protein containing a Kruppel-associated box (KRAB) domain at its N-terminus, followed by contiguous C2H2 zinc finger motifs. The encoded protein is a nuclear protein that can act as a transcriptional repressor of growth factor-mediated signaling pathways in a reporter gene assay. This protein has been shown to interact with the SRY-box 9 gene product, and suppresses its transcriptional activity by inhibiting its DNA binding activity. Reduced expression of this gene promotes chondrocyte differentiation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2016]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Zfp606||
(F):5'- CATGAACGGACAcacactggagtaa -3'
(R):5'- TTTCTGATGTTGAAGTAAGGCCGAATGA -3'
(F):5'- agttcccatctcattgccc -3'
(R):5'- gtttctcgccactatgcattc -3'