|Institutional Source||Beutler Lab|
|Gene Name||WD repeat domain 73|
|Is this an essential gene?||Possibly non essential (E-score: 0.271)|
|Stock #||R7197 (G1)|
|Chromosomal Location||80890723-80901269 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 80893198 bp|
|Amino Acid Change||Cysteine to Arginine at position 221 (C221R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000026816 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000026816]|
|Predicted Effect||probably benign
AA Change: C221R
PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
AA Change: C221R
AA Change: C194R
|Coding Region Coverage||
|Validation Efficiency||97% (77/79)|
|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 thought to contain multiple WD40 repeats. WD40 repeats are motifs that contain 40-60 amino acids, and usually end with Trp-Asp (WD). This protein is found in the cytoplasm during interphase, but accumulates at the spindle poles and astral microtubules during mitosis. Reduced expression of this gene results in abnormalities in the size and morphology of the nucleus. Mutations in this gene have been associated with Galloway-Mowat syndrome PMID: 25466283), which is a rare autosomal recessive disorder that affects both the central nervous system and kidneys. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Wdr73||
(F):5'- TAGCCAAGCAGTTGTCCAGG -3'
(R):5'- AGGGTTTCTGTGCCAGATGC -3'
(F):5'- TCACCCGCAGCAGCTCTG -3'
(R):5'- CACCAGCAGAGCAGACTGG -3'