|Institutional Source||Beutler Lab|
|Gene Name||WD repeat domain 7|
|Synonyms||TGF-beta resistance associated gene, TRAG|
|Is this an essential gene?||Probably essential (E-score: 0.956)|
|Stock #||R2245 (G1)|
|Chromosomal Location||63708695-63989760 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 63924909 bp|
|Amino Acid Change||Isoleucine to Phenylalanine at position 1270 (I1270F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000072509 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000072726]|
|Predicted Effect||possibly damaging
AA Change: I1270F
PolyPhen 2 Score 0.600 (Sensitivity: 0.87; Specificity: 0.91)
AA Change: I1270F
|Meta Mutation Damage Score||0.212|
|Coding Region Coverage||
|Validation Efficiency||100% (31/31)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD) that may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. The encoded protein forms the beta subunit of rabconnectin-3 and binds directly with Rab3A GDP/GTP exchange protein and indirectly with Rab3A GDP/GTP activating protein; these proteins are regulators of Rab3 small G protein family members involved in control of the calcium-dependant exocytosis of neurotransmitters. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Wdr7||
(F):5'- CACTGCTCATTGTCACAGGTC -3'
(R):5'- GCGTGCACACATGATCCATTC -3'
(F):5'- AACTGTTTGAGTGCCCCCATTG -3'
(R):5'- GATCCATTCATTTCAGCCGTAAACG -3'