|Institutional Source||Beutler Lab|
|Gene Name||KN motif and ankyrin repeat domains 1|
|Synonyms||D330024H06Rik, Ankrd15, A930031B09Rik|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R7037 (G1)|
|Chromosomal Location||25236975-25434496 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 25430341 bp|
|Amino Acid Change||Aspartic acid to Glycine at position 1233 (D1233G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000042177 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000049400] [ENSMUST00000146647]|
|Predicted Effect||probably damaging
AA Change: D1233G
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: D1233G
|Predicted Effect||probably benign
|Coding Region Coverage||
|Validation Efficiency||100% (70/70)|
|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 Kank family of proteins, which contain multiple ankyrin repeat domains. This family member functions in cytoskeleton formation by regulating actin polymerization. This gene is a candidate tumor suppressor for renal cell carcinoma. Mutations in this gene cause cerebral palsy spastic quadriplegic type 2, a central nervous system development disorder. A t(5;9) translocation results in fusion of the platelet-derived growth factor receptor beta gene (PDGFRB) on chromosome 5 with this gene in a myeloproliferative neoplasm featuring severe thrombocythemia. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 20. [provided by RefSeq, Dec 2014]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Kank1||
(F):5'- AACGCTAACGGTTCCGGATG -3'
(R):5'- CCTTGTGTGCAACCATGTTTAGTC -3'
(F):5'- GGATGGCTCTCCCTAAAGAGATTTC -3'
(R):5'- CTGCAAGCTTCCTAGGCAAAGTAG -3'