|Institutional Source||Beutler Lab|
|Gene Name||ankyrin repeat and kinase domain containing 1|
|Is this an essential gene?||Probably non essential (E-score: 0.061)|
|Stock #||R3121 (G1)|
|Chromosomal Location||49415194-49427021 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 49426967 bp|
|Amino Acid Change||Leucine to Phenylalanine at position 9 (L9F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000034792 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000034792]|
|Predicted Effect||probably benign
AA Change: L9F
PolyPhen 2 Score 0.213 (Sensitivity: 0.92; Specificity: 0.88)
AA Change: L9F
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||100% (52/52)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the Ser/Thr protein kinase family, and protein kinase superfamily involved in signal transduction pathways. This gene is closely linked to DRD2 gene (GeneID:1813) on chr 11, and a well studied restriction fragment length polymorphism (RFLP) designated TaqIA, was originally associated with the DRD2 gene, however, later was determined to be located in exon 8 of ANKK1 gene (PMIDs: 18621654, 15146457), where it causes a nonconservative amino acid substitution. It is not clear if this gene plays any role in neuropsychiatric disorders previously associated with Taq1A RFLP. [provided by RefSeq, Sep 2009]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ankk1||
(F):5'- AGCACTTGATGGCGTACTGG -3'
(R):5'- TCTGACTTCCAGCTGCAAGC -3'
(F):5'- ATGGCGTACTGGGTCCTC -3'
(R):5'- TGCAAGCACAGCTCTGG -3'