Incidental Mutation 'IGL02452:Alk'
ID 293684
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Alk
Ensembl Gene ENSMUSG00000055471
Gene Name anaplastic lymphoma kinase
Synonyms CD246, Tcrz
Accession Numbers
Essential gene? Probably non essential (E-score: 0.138) question?
Stock # IGL02452
Quality Score
Status
Chromosome 17
Chromosomal Location 72175967-72911622 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 72209620 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 941 (Y941*)
Ref Sequence ENSEMBL: ENSMUSP00000083840 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086639]
AlphaFold P97793
Predicted Effect probably null
Transcript: ENSMUST00000086639
AA Change: Y941*
SMART Domains Protein: ENSMUSP00000083840
Gene: ENSMUSG00000055471
AA Change: Y941*

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
low complexity region 99 109 N/A INTRINSIC
low complexity region 230 242 N/A INTRINSIC
Pfam:MAM 270 431 5.6e-10 PFAM
LDLa 441 477 5.59e-3 SMART
Pfam:MAM 484 640 5.6e-22 PFAM
Pfam:Gly_rich 730 996 8.6e-19 PFAM
low complexity region 1037 1057 N/A INTRINSIC
TyrKc 1120 1387 2.76e-140 SMART
low complexity region 1440 1480 N/A INTRINSIC
low complexity region 1551 1570 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype 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
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadm C A 3: 153,647,607 (GRCm39) V11F probably damaging Het
Blm A T 7: 80,153,125 (GRCm39) probably null Het
Blvrb T C 7: 27,158,765 (GRCm39) V55A possibly damaging Het
Cdh23 T A 10: 60,153,721 (GRCm39) T2288S probably damaging Het
Csnk1g1 T A 9: 65,915,067 (GRCm39) M242K probably damaging Het
Cyp2c29 G A 19: 39,279,291 (GRCm39) G96D possibly damaging Het
Cyp2d26 T A 15: 82,676,827 (GRCm39) H173L probably benign Het
Cyp2g1 T A 7: 26,510,871 (GRCm39) S131T probably benign Het
Dusp29 G A 14: 21,752,990 (GRCm39) T52I probably damaging Het
Dzip3 T A 16: 48,758,900 (GRCm39) probably benign Het
Espl1 T C 15: 102,208,274 (GRCm39) S427P probably damaging Het
Fasn A T 11: 120,699,006 (GRCm39) D2424E probably benign Het
Flrt2 G A 12: 95,746,257 (GRCm39) M198I probably benign Het
Gen1 A T 12: 11,292,576 (GRCm39) S404R probably benign Het
Gm11596 A T 11: 99,683,806 (GRCm39) C105S unknown Het
Hdlbp A T 1: 93,345,233 (GRCm39) V714D probably damaging Het
Igkv4-80 A G 6: 68,993,816 (GRCm39) V25A probably benign Het
Igkv8-27 C T 6: 70,148,925 (GRCm39) W76* probably null Het
Ikzf1 T C 11: 11,698,545 (GRCm39) L132P probably damaging Het
Kcna6 C A 6: 126,715,443 (GRCm39) C482F possibly damaging Het
Lhx9 A T 1: 138,769,580 (GRCm39) L47Q probably damaging Het
Lrp4 T A 2: 91,304,347 (GRCm39) D175E probably damaging Het
Lrrtm3 T C 10: 63,923,815 (GRCm39) K451E probably damaging Het
Mcm9 C T 10: 53,417,653 (GRCm39) V17M probably damaging Het
Mios T A 6: 8,222,492 (GRCm39) S475R probably benign Het
Mmp24 C T 2: 155,657,708 (GRCm39) R533C probably damaging Het
Moxd1 C T 10: 24,158,650 (GRCm39) P435S probably damaging Het
Mta2 T A 19: 8,927,670 (GRCm39) I497N probably benign Het
Mtus2 T C 5: 148,014,473 (GRCm39) V422A probably benign Het
Ndufaf1 A T 2: 119,486,907 (GRCm39) F260Y probably damaging Het
Nfasc C T 1: 132,548,662 (GRCm39) probably null Het
Nid1 A T 13: 13,683,305 (GRCm39) T1128S probably benign Het
Odad2 C T 18: 7,129,461 (GRCm39) E906K probably damaging Het
Or51f1d A G 7: 102,701,138 (GRCm39) D211G probably benign Het
Pcdh12 G A 18: 38,414,746 (GRCm39) P793L probably benign Het
Pclo A T 5: 14,726,980 (GRCm39) probably benign Het
Prpf31 T A 7: 3,637,185 (GRCm39) N161K possibly damaging Het
Prpf6 T G 2: 181,290,878 (GRCm39) N656K probably benign Het
Ptprn T A 1: 75,234,813 (GRCm39) H258L probably benign Het
Rab19 A G 6: 39,366,732 (GRCm39) T216A probably benign Het
Ryr3 A C 2: 112,664,335 (GRCm39) L1652W probably damaging Het
Six2 A C 17: 85,992,806 (GRCm39) S232R possibly damaging Het
Spag17 T C 3: 99,934,707 (GRCm39) V663A probably benign Het
Spag5 A G 11: 78,195,449 (GRCm39) N252S probably benign Het
Spata31e4 A T 13: 50,857,113 (GRCm39) H917L probably damaging Het
Sptb C T 12: 76,655,810 (GRCm39) probably null Het
Synj1 A G 16: 90,758,253 (GRCm39) probably benign Het
Tekt2 T C 4: 126,218,645 (GRCm39) H36R possibly damaging Het
Tjp1 A T 7: 64,962,403 (GRCm39) M1258K probably damaging Het
Txnrd3 T C 6: 89,651,777 (GRCm39) *502Q probably null Het
Other mutations in Alk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00401:Alk APN 17 72,202,743 (GRCm39) missense probably damaging 1.00
IGL00796:Alk APN 17 72,212,137 (GRCm39) missense possibly damaging 0.88
IGL01096:Alk APN 17 72,228,891 (GRCm39) missense possibly damaging 0.87
IGL01367:Alk APN 17 72,207,781 (GRCm39) missense probably damaging 1.00
IGL01402:Alk APN 17 72,181,173 (GRCm39) missense probably damaging 1.00
IGL01652:Alk APN 17 72,910,526 (GRCm39) missense probably damaging 1.00
IGL01717:Alk APN 17 72,910,377 (GRCm39) missense probably benign
IGL02301:Alk APN 17 72,181,171 (GRCm39) missense probably damaging 0.99
IGL02403:Alk APN 17 72,208,388 (GRCm39) missense probably damaging 1.00
IGL02724:Alk APN 17 72,292,455 (GRCm39) missense probably benign 0.00
IGL02826:Alk APN 17 72,176,531 (GRCm39) missense probably damaging 1.00
IGL02863:Alk APN 17 72,204,830 (GRCm39) missense probably damaging 1.00
IGL02994:Alk APN 17 72,256,815 (GRCm39) missense probably benign 0.00
IGL03329:Alk APN 17 72,206,159 (GRCm39) splice site probably benign
PIT4382001:Alk UTSW 17 72,256,916 (GRCm39) missense probably benign
R0157:Alk UTSW 17 72,256,840 (GRCm39) missense probably benign 0.00
R0211:Alk UTSW 17 72,910,511 (GRCm39) missense probably damaging 1.00
R0257:Alk UTSW 17 72,910,490 (GRCm39) missense probably damaging 1.00
R0269:Alk UTSW 17 72,910,578 (GRCm39) missense probably damaging 1.00
R0395:Alk UTSW 17 72,910,526 (GRCm39) missense probably damaging 0.99
R0414:Alk UTSW 17 72,206,281 (GRCm39) splice site probably benign
R0466:Alk UTSW 17 72,212,152 (GRCm39) missense possibly damaging 0.51
R0526:Alk UTSW 17 72,176,748 (GRCm39) missense probably damaging 1.00
R0617:Alk UTSW 17 72,910,578 (GRCm39) missense probably damaging 1.00
R0781:Alk UTSW 17 72,291,740 (GRCm39) splice site probably benign
R0830:Alk UTSW 17 72,910,195 (GRCm39) missense probably benign 0.01
R0835:Alk UTSW 17 72,176,837 (GRCm39) missense probably damaging 0.97
R0894:Alk UTSW 17 72,202,930 (GRCm39) missense probably damaging 1.00
R1110:Alk UTSW 17 72,291,740 (GRCm39) splice site probably benign
R1170:Alk UTSW 17 72,207,729 (GRCm39) missense probably damaging 1.00
R1573:Alk UTSW 17 72,910,113 (GRCm39) missense possibly damaging 0.69
R1667:Alk UTSW 17 72,218,562 (GRCm39) missense probably damaging 1.00
R1748:Alk UTSW 17 72,910,416 (GRCm39) missense probably benign 0.19
R1767:Alk UTSW 17 72,207,693 (GRCm39) missense possibly damaging 0.73
R1836:Alk UTSW 17 72,198,032 (GRCm39) missense probably damaging 1.00
R1861:Alk UTSW 17 72,181,933 (GRCm39) splice site probably benign
R2905:Alk UTSW 17 72,292,489 (GRCm39) missense probably benign 0.40
R2925:Alk UTSW 17 72,910,202 (GRCm39) missense probably benign
R3727:Alk UTSW 17 72,208,395 (GRCm39) splice site probably benign
R3747:Alk UTSW 17 72,218,560 (GRCm39) missense probably damaging 0.99
R3790:Alk UTSW 17 72,910,427 (GRCm39) missense possibly damaging 0.95
R3909:Alk UTSW 17 72,204,906 (GRCm39) missense probably benign 0.00
R3934:Alk UTSW 17 72,512,949 (GRCm39) missense probably damaging 1.00
R3936:Alk UTSW 17 72,512,949 (GRCm39) missense probably damaging 1.00
R3972:Alk UTSW 17 72,292,442 (GRCm39) missense probably benign 0.16
R4433:Alk UTSW 17 72,206,236 (GRCm39) nonsense probably null
R4716:Alk UTSW 17 72,512,937 (GRCm39) missense probably damaging 1.00
R4903:Alk UTSW 17 72,176,558 (GRCm39) missense probably damaging 1.00
R4921:Alk UTSW 17 72,211,310 (GRCm39) missense probably benign 0.30
R4954:Alk UTSW 17 72,209,687 (GRCm39) nonsense probably null
R5377:Alk UTSW 17 72,202,734 (GRCm39) missense probably damaging 1.00
R5386:Alk UTSW 17 72,182,007 (GRCm39) missense probably damaging 1.00
R5551:Alk UTSW 17 72,182,028 (GRCm39) missense possibly damaging 0.53
R5704:Alk UTSW 17 72,910,115 (GRCm39) missense probably damaging 1.00
R5877:Alk UTSW 17 72,274,521 (GRCm39) missense probably damaging 1.00
R5888:Alk UTSW 17 72,181,938 (GRCm39) missense probably damaging 1.00
R6013:Alk UTSW 17 72,207,732 (GRCm39) missense probably benign 0.15
R6044:Alk UTSW 17 72,299,095 (GRCm39) missense probably benign 0.00
R6058:Alk UTSW 17 72,176,742 (GRCm39) missense probably benign 0.01
R6126:Alk UTSW 17 72,182,037 (GRCm39) missense possibly damaging 0.82
R6286:Alk UTSW 17 72,187,842 (GRCm39) missense probably damaging 0.98
R6744:Alk UTSW 17 72,910,077 (GRCm39) missense probably benign 0.35
R6989:Alk UTSW 17 72,204,947 (GRCm39) missense probably benign 0.00
R7487:Alk UTSW 17 72,256,893 (GRCm39) missense probably benign
R7573:Alk UTSW 17 72,207,787 (GRCm39) missense probably damaging 1.00
R7838:Alk UTSW 17 72,274,549 (GRCm39) missense possibly damaging 0.53
R8055:Alk UTSW 17 72,206,252 (GRCm39) missense probably benign 0.19
R8211:Alk UTSW 17 72,176,702 (GRCm39) missense probably benign
R8555:Alk UTSW 17 72,228,869 (GRCm39) missense probably damaging 1.00
R8676:Alk UTSW 17 72,204,936 (GRCm39) missense probably damaging 0.98
R8847:Alk UTSW 17 72,256,820 (GRCm39) missense probably benign 0.14
R8885:Alk UTSW 17 72,202,758 (GRCm39) missense probably damaging 1.00
R9177:Alk UTSW 17 72,181,190 (GRCm39) missense probably damaging 1.00
R9239:Alk UTSW 17 72,256,864 (GRCm39) missense probably benign 0.04
R9268:Alk UTSW 17 72,181,190 (GRCm39) missense probably damaging 1.00
R9682:Alk UTSW 17 72,182,058 (GRCm39) missense possibly damaging 0.95
RF013:Alk UTSW 17 72,202,931 (GRCm39) missense probably damaging 1.00
RF018:Alk UTSW 17 72,256,808 (GRCm39) missense probably benign 0.09
Z1088:Alk UTSW 17 72,512,802 (GRCm39) missense probably damaging 0.96
Z1177:Alk UTSW 17 72,910,058 (GRCm39) missense probably damaging 0.97
Posted On 2015-04-16