Incidental Mutation 'R8847:Alk'
ID 674788
Institutional Source Beutler Lab
Gene Symbol Alk
Ensembl Gene ENSMUSG00000055471
Gene Name anaplastic lymphoma kinase
Synonyms CD246, Tcrz
MMRRC Submission 068735-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.138) question?
Stock # R8847 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 72175967-72911622 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 72256820 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 680 (I680F)
Ref Sequence ENSEMBL: ENSMUSP00000083840 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086639]
AlphaFold P97793
Predicted Effect probably benign
Transcript: ENSMUST00000086639
AA Change: I680F

PolyPhen 2 Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000083840
Gene: ENSMUSG00000055471
AA Change: I680F

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.9%
Validation Efficiency 100% (64/64)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam25 G C 8: 41,206,746 (GRCm39) R4T probably benign Het
Best3 A G 10: 116,824,572 (GRCm39) T13A possibly damaging Het
Ccdc7b A G 8: 129,872,082 (GRCm39) D59G Het
Cd300ld2 CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG 11: 114,903,257 (GRCm39) probably benign Het
Cic G A 7: 24,970,631 (GRCm39) V121M probably damaging Het
Clasp1 C G 1: 118,506,705 (GRCm39) P1280R probably damaging Het
Col6a5 A T 9: 105,741,472 (GRCm39) N2482K possibly damaging Het
Crebbp A G 16: 3,902,891 (GRCm39) M2116T probably benign Het
Ddn T C 15: 98,704,794 (GRCm39) E166G possibly damaging Het
Dennd6a C T 14: 26,327,086 (GRCm39) T249I probably benign Het
Diaph1 A T 18: 37,987,590 (GRCm39) D1055E possibly damaging Het
Dnajc13 C A 9: 104,057,360 (GRCm39) G1547* probably null Het
Dvl1 C T 4: 155,942,611 (GRCm39) R626C possibly damaging Het
Fer1l6 A C 15: 58,414,012 (GRCm39) K13Q possibly damaging Het
Fry G A 5: 150,309,472 (GRCm39) E639K Het
Gm6408 G T 5: 146,420,602 (GRCm39) V161L probably benign Het
Gpatch8 A T 11: 102,372,010 (GRCm39) N509K unknown Het
Hycc2 G T 1: 58,595,713 (GRCm39) P55Q probably damaging Het
Ints13 T C 6: 146,457,631 (GRCm39) T416A probably benign Het
Iqcf6 A T 9: 106,504,650 (GRCm39) M105L probably damaging Het
Magi3 C A 3: 103,922,334 (GRCm39) R1461L probably benign Het
Map3k8 A T 18: 4,333,889 (GRCm39) L401Q Het
Miga2 G T 2: 30,273,990 (GRCm39) R542L probably damaging Het
Mphosph9 A T 5: 124,454,209 (GRCm39) V96E possibly damaging Het
Nek5 T C 8: 22,613,595 (GRCm39) S28G probably benign Het
Niban1 A G 1: 151,575,929 (GRCm39) E351G probably damaging Het
Notch4 A G 17: 34,803,962 (GRCm39) probably benign Het
Npc1 A G 18: 12,323,987 (GRCm39) L1275P probably damaging Het
Nphp4 C T 4: 152,590,863 (GRCm39) R287C probably damaging Het
Or10ak11 T C 4: 118,686,821 (GRCm39) D271G probably damaging Het
Or13a20 G C 7: 140,232,326 (GRCm39) A145P possibly damaging Het
Or1j13 G A 2: 36,369,483 (GRCm39) R220* probably null Het
Or1p1c C T 11: 74,160,443 (GRCm39) T76I probably damaging Het
Parn A T 16: 13,446,270 (GRCm39) L343* probably null Het
Pax5 T A 4: 44,691,865 (GRCm39) D127V probably benign Het
Peak1 C A 9: 56,114,427 (GRCm39) D1505Y probably damaging Het
Perm1 C T 4: 156,302,068 (GRCm39) T204I probably benign Het
Pid1 A T 1: 84,093,694 (GRCm39) S65T unknown Het
Pkn2 A G 3: 142,526,401 (GRCm39) V392A probably benign Het
Plekhh2 A G 17: 84,878,479 (GRCm39) D578G probably benign Het
Ppp4r4 T A 12: 103,562,747 (GRCm39) L572Q probably damaging Het
Pum3 G A 19: 27,398,713 (GRCm39) T279M probably damaging Het
Rasa2 A G 9: 96,458,402 (GRCm39) V266A possibly damaging Het
Sirpb1c C T 3: 15,886,584 (GRCm39) W264* probably null Het
Slc35g3 A T 11: 69,651,399 (GRCm39) Y195* probably null Het
Slk T A 19: 47,607,632 (GRCm39) H289Q Het
Spef2 T C 15: 9,668,913 (GRCm39) S758G probably benign Het
Spon2 C T 5: 33,371,841 (GRCm39) A322T probably benign Het
Spred2 T C 11: 19,951,064 (GRCm39) L87P probably benign Het
Stk10 A G 11: 32,539,427 (GRCm39) D269G Het
Tex48 T A 4: 63,530,772 (GRCm39) probably benign Het
Themis2 T A 4: 132,513,509 (GRCm39) H239L probably damaging Het
Tle4 T A 19: 14,493,737 (GRCm39) R199* probably null Het
Tlr11 C T 14: 50,600,182 (GRCm39) H723Y possibly damaging Het
Trdj2 T A 14: 54,374,237 (GRCm39) S1T Het
Vdac1 T G 11: 52,267,230 (GRCm39) S44A Het
Vill C T 9: 118,897,514 (GRCm39) T647I probably damaging Het
Vmn1r61 A G 7: 5,613,817 (GRCm39) C166R probably damaging Het
Vmn2r114 T A 17: 23,528,986 (GRCm39) N372I probably damaging Het
Vmn2r120 T A 17: 57,816,217 (GRCm39) M713L probably benign Het
Vmn2r61 T C 7: 41,950,010 (GRCm39) V810A probably damaging Het
Vmn2r65 A T 7: 84,590,212 (GRCm39) L568Q probably damaging Het
Wdr7 T C 18: 63,872,293 (GRCm39) V409A probably damaging Het
Ylpm1 C A 12: 85,061,672 (GRCm39) N524K unknown Het
Zfp958 A C 8: 4,678,434 (GRCm39) H153P probably damaging 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
IGL02452:Alk APN 17 72,209,620 (GRCm39) nonsense probably null
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
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
Predicted Primers PCR Primer
(F):5'- TGAGAGACCCACACAGCTTC -3'
(R):5'- CCCCAATTTCAGTGACTTATGGTC -3'

Sequencing Primer
(F):5'- TGAGAGACCCACACAGCTTCTTTAG -3'
(R):5'- CAGTGACTTATGGTCTTACCTCTAG -3'
Posted On 2021-07-15