|Institutional Source||Beutler Lab|
|Gene Name||DDB1 and CUL4 associated factor 7|
|Synonyms||1700012F10Rik, 2610037L01Rik, Wdr68|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7446 (G1)|
|Chromosomal Location||106036872-106059324 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 106053735 bp|
|Amino Acid Change||Valine to Alanine at position 248 (V248A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000058168 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000058438]|
|Predicted Effect||probably benign
AA Change: V248A
PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
AA Change: V248A
|Meta Mutation Damage Score||0.3979|
|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.] This gene encodes a protein with multiple WD40 repeats which facilitate protein-protein interactions and thereby enable the assembly of multiprotein complexes. This protein has been shown to function as a scaffold protein for protein complexes involved in kinase signaling. This highly conserved gene is present in eukaryotic plants, fungi, and animals. The ortholog of this gene was first identified in plants as a key regulator of anthocyanin biosynthesis and flower pigmentation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Dcaf7||
(F):5'- AGCAAGGAGAACACATGGTC -3'
(R):5'- CCTGAACTATTGCCAATGAATGTG -3'
(F):5'- ACATGGTCTGTGTTAGCTCATTG -3'
(R):5'- GGCACATGACTGTAACAGCATTCTG -3'