|Institutional Source||Beutler Lab|
|Gene Name||MAP/microtubule affinity regulating kinase 4|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R5330 (G1)|
|Chromosomal Location||19424775-19458821 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 19436983 bp|
|Amino Acid Change||Proline to Serine at position 321 (P321S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000082862 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000085715] [ENSMUST00000209058]|
|Predicted Effect||probably damaging
AA Change: P321S
PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
AA Change: P321S
|Predicted Effect||noncoding transcript
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.3985|
|Coding Region Coverage||
|Validation Efficiency||99% (95/96)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the microtubule affinity-regulating kinase family. These protein kinases phosphorylate microtubule-associated proteins and regulate the transition between stable and dynamic microtubules. The encoded protein is associated with the centrosome throughout mitosis and may be involved in cell cycle control. Expression of this gene is a potential marker for cancer, and the encoded protein may also play a role in Alzheimer's disease. Pseudogenes of this gene are located on both the short and long arm of chromosome 3. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit insulin hypersensitivity and resistance to diet-induced obersity. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Mark4||
(F):5'- TGGTGCTGGGAGAGACATTC -3'
(R):5'- AGCTCTTAGGATGATTACAGGGTG -3'
(F):5'- TGCTGGGAGAGACATTCCTCAAC -3'
(R):5'- ATTACAGGGTGCTGGGGAC -3'