|Institutional Source||Beutler Lab|
|Gene Name||anaplastic lymphoma kinase|
|Is this an essential gene?||Probably non essential (E-score: 0.175)|
|Stock #||R6126 (G1)|
|Chromosomal Location||71869442-72603709 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 71875042 bp|
|Amino Acid Change||Leucine to Phenylalanine at position 1329 (L1329F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000083840 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000086639]|
|Predicted Effect||possibly damaging
AA Change: L1329F
PolyPhen 2 Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)
AA Change: L1329F
|Meta Mutation Damage Score||0.2563|
|Coding Region Coverage||
|Validation Efficiency||93% (51/55)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a receptor tyrosine kinase, which belongs to the insulin receptor superfamily. This protein comprises an extracellular domain, an hydrophobic stretch corresponding to a single pass transmembrane region, and an intracellular kinase domain. It plays an important role in the development of the brain and exerts its effects on specific neurons in the nervous system. This gene has been found to be rearranged, mutated, or amplified in a series of tumours including anaplastic large cell lymphomas, neuroblastoma, and non-small cell lung cancer. The chromosomal rearrangements are the most common genetic alterations in this gene, which result in creation of multiple fusion genes in tumourigenesis, including ALK (chromosome 2)/EML4 (chromosome 2), ALK/RANBP2 (chromosome 2), ALK/ATIC (chromosome 2), ALK/TFG (chromosome 3), ALK/NPM1 (chromosome 5), ALK/SQSTM1 (chromosome 5), ALK/KIF5B (chromosome 10), ALK/CLTC (chromosome 17), ALK/TPM4 (chromosome 19), and ALK/MSN (chromosome X).[provided by RefSeq, Jan 2011]
PHENOTYPE: Mice homozygous for a null allele show increased ethanol consumption and increased sedation in response to ethanol. Male mice homozygous for a different null allele show delayed puberty, hypogonadotropic hypogonadism, reduced serum testosterone levels, and altered seminiferous tubule morphology. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Alk||
(F):5'- CTCTCGGGACATCTGAAAAGAAGG -3'
(R):5'- TGACCTCCATGTATATGTGTGC -3'
(F):5'- TCTGAAAAGAAGGCTACCAACTTC -3'
(R):5'- GACCTCCATGTATATGTGTGCAAATG -3'