|Institutional Source||Beutler Lab|
|Gene Name||WD repeat domain 1|
|Synonyms||Aip1, rede, D5Wsu185e|
|Essential gene?||Essential (E-score: 1.000)|
|Stock #||R0724 (G1)|
|Chromosomal Location||38526813-38563221 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 38540862 bp (GRCm38)|
|Amino Acid Change||Valine to Alanine at position 192 (V192A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000005234 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000005234] [ENSMUST00000201260]|
AA Change: V192A
PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
AA Change: V192A
|Meta Mutation Damage Score||0.8316|
|Coding Region Coverage||
|Validation Efficiency||100% (62/62)|
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'- ACCATTTCCCCAGTGATTGTGGC -3'
(R):5'- AGTGACCAGGCAGGAACAGACTTC -3'
(F):5'- GTACAGTTGGAACCTTGAACATTC -3'
(R):5'- AAATGCCATGATGGGCTCTC -3'