|Institutional Source||Beutler Lab|
|Gene Name||ankyrin repeat domain 26|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R0083 (G1)|
|Chromosomal Location||118501308-118562226 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 118523254 bp|
|Amino Acid Change||Histidine to Glutamine at position 1085 (H1085Q)|
|Ref Sequence||ENSEMBL: ENSMUSP00000108449 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000112830]|
|Predicted Effect||probably benign
AA Change: H1085Q
PolyPhen 2 Score 0.363 (Sensitivity: 0.90; Specificity: 0.89)
AA Change: H1085Q
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||88% (117/133)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing N-terminal ankyrin repeats which function in protein-protein interactions. Mutations in this gene are associated with autosomal dominant thrombocytopenia-2. Pseudogenes of this gene are found on chromosome 7, 10, 13 and 16. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for a gene trapped allele have enlarged kidneys and hearts, exhibit increased lean body mass and adiposity, develop extreme obesity associated with hyperphagia rather than reduced energy expenditure, and show insulin resistance and gigantism. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ankrd26||
(F):5'- AGCACATCCTGGAACTGGTCTTGG -3'
(R):5'- TCTGCTCTGCATGATCACGCTG -3'
(F):5'- AACTGGTCTTGGATGTTGACTATG -3'
(R):5'- CTGCATGATCACGCTGAAATTC -3'