|Institutional Source||Beutler Lab|
|Gene Name||WD repeat domain 1|
|Synonyms||Aip1, rede, D5Wsu185e|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R1509 (G1)|
|Chromosomal Location||38526813-38563221 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 38540562 bp|
|Amino Acid Change||Threonine to Methionine at position 220 (T220M)|
|Ref Sequence||ENSEMBL: ENSMUSP00000005234 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000005234] [ENSMUST00000201260]|
|Predicted Effect||probably damaging
AA Change: T220M
PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
AA Change: T220M
|Predicted Effect||noncoding transcript
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.6467|
|Coding Region Coverage||
|Validation Efficiency||99% (89/90)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing 9 WD repeats. WD repeats are approximately 30- to 40-amino acid domains containing several conserved residues, mostly including a trp-asp at the C-terminal end. WD domains are involved in protein-protein interactions. The encoded protein may help induce the disassembly of actin filaments. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Severe loss of function at this locus causes embryonic lethality. Mice homozygous for a hypomorphic ENU-induced allele exhibit thrombocytopenia due to impaired megakaryocyte maturation and platelet shedding, and develop autoinflammatory disease associated with defects in neutrophil function. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Wdr1||
(F):5'- AAGGTTCCTGCTCAGCCACTTG -3'
(R):5'- AACTGTGTGCGATTCTCTCCTGATG -3'
(F):5'- CTACCTGACTATGACCTTTAAAACTC -3'
(R):5'- CGATTCTCTCCTGATGGGAACAG -3'