Incidental Mutation 'IGL02724:Alk'
ID 305112
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 # IGL02724
Quality Score
Status
Chromosome 17
Chromosomal Location 72175967-72911622 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 72292455 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 508 (R508G)
Ref Sequence ENSEMBL: ENSMUSP00000083840 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086639]
AlphaFold P97793
Predicted Effect probably benign
Transcript: ENSMUST00000086639
AA Change: R508G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000083840
Gene: ENSMUSG00000055471
AA Change: R508G

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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Accs T G 2: 93,676,121 (GRCm39) K85Q probably damaging Het
Acmsd A T 1: 127,676,822 (GRCm39) T116S possibly damaging Het
Agrn T A 4: 156,257,264 (GRCm39) K1189* probably null Het
Arhgap23 T A 11: 97,382,005 (GRCm39) Y1123N probably damaging Het
Arl6ip5 G T 6: 97,209,365 (GRCm39) M133I probably benign Het
Axin2 G A 11: 108,833,772 (GRCm39) G573D possibly damaging Het
B4galt2 A G 4: 117,734,075 (GRCm39) probably null Het
Baz2b G T 2: 59,807,718 (GRCm39) D180E possibly damaging Het
Btnl6 G T 17: 34,727,149 (GRCm39) Y460* probably null Het
Cct7 A T 6: 85,436,131 (GRCm39) D14V probably damaging Het
Cd55 T A 1: 130,377,149 (GRCm39) probably benign Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cdh2 C T 18: 16,762,537 (GRCm39) R526Q probably benign Het
Chi3l1 A C 1: 134,116,981 (GRCm39) E315A probably damaging Het
Cmya5 A G 13: 93,233,163 (GRCm39) S642P probably benign Het
Cpm C A 10: 117,465,756 (GRCm39) T43K probably damaging Het
Cracd T C 5: 77,006,306 (GRCm39) V889A unknown Het
Cyp8b1 A T 9: 121,744,453 (GRCm39) V293D probably benign Het
Dock1 T G 7: 134,765,082 (GRCm39) D1691E probably benign Het
Fasn T C 11: 120,700,659 (GRCm39) D2120G probably benign Het
Gal3st4 T C 5: 138,263,679 (GRCm39) K440R probably benign Het
Gfpt1 A T 6: 87,033,164 (GRCm39) K130* probably null Het
Gpr26 T C 7: 131,576,121 (GRCm39) probably null Het
Htr2a A T 14: 74,882,502 (GRCm39) I163F probably damaging Het
Ift70a2 T C 2: 75,806,682 (GRCm39) E610G probably benign Het
Insrr A G 3: 87,716,879 (GRCm39) D673G probably benign Het
Ipo8 G T 6: 148,692,979 (GRCm39) C636* probably null Het
Kirrel1 C A 3: 86,997,780 (GRCm39) E248* probably null Het
Lrp6 A G 6: 134,461,228 (GRCm39) V743A probably damaging Het
Lrrc45 C A 11: 120,609,144 (GRCm39) S374R probably benign Het
Map3k9 G A 12: 81,771,516 (GRCm39) P714S probably benign Het
Mrgprb8 T A 7: 48,039,121 (GRCm39) L264Q possibly damaging Het
Mroh4 C A 15: 74,478,000 (GRCm39) W902L probably benign Het
Nfat5 T A 8: 108,085,367 (GRCm39) D535E probably damaging Het
Nfatc3 T C 8: 106,834,817 (GRCm39) V713A probably benign Het
Npc1l1 C T 11: 6,164,684 (GRCm39) V1122M possibly damaging Het
Nsg2 A G 11: 32,005,011 (GRCm39) probably null Het
Or4c15 C A 2: 88,759,792 (GRCm39) R289L probably damaging Het
Or8s10 T A 15: 98,335,660 (GRCm39) F103L probably benign Het
Pax9 A T 12: 56,756,604 (GRCm39) H314L possibly damaging Het
Phf21a A T 2: 92,190,592 (GRCm39) I584F probably damaging Het
Pip5k1c A G 10: 81,149,296 (GRCm39) E536G probably benign Het
Plekhm3 A G 1: 64,834,276 (GRCm39) S736P probably damaging Het
Ppp3cb T A 14: 20,573,645 (GRCm39) probably null Het
Prdm9 A T 17: 15,783,522 (GRCm39) S14R probably benign Het
Proc A G 18: 32,267,925 (GRCm39) I71T probably damaging Het
Prom2 T A 2: 127,380,577 (GRCm39) probably benign Het
Psd T C 19: 46,307,984 (GRCm39) T675A probably benign Het
Rnf215 G T 11: 4,090,305 (GRCm39) R341L probably damaging Het
Ryr3 A G 2: 112,732,921 (GRCm39) probably null Het
Sh2d7 C A 9: 54,448,105 (GRCm39) T42N probably benign Het
Sh3glb2 C T 2: 30,236,368 (GRCm39) G279D probably benign Het
Slc25a46 A G 18: 31,738,868 (GRCm39) probably benign Het
Snx17 T C 5: 31,354,390 (GRCm39) S167P probably damaging Het
Snx19 A G 9: 30,343,556 (GRCm39) N572S possibly damaging Het
Sptbn4 G A 7: 27,067,104 (GRCm39) R1937C probably damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Srsf11 T C 3: 157,722,068 (GRCm39) probably benign Het
Taar7b A T 10: 23,876,581 (GRCm39) M249L probably benign Het
Tle6 G A 10: 81,435,898 (GRCm39) Q6* probably null Het
Twnk G T 19: 44,996,557 (GRCm39) R330L probably damaging Het
Unc13a C A 8: 72,108,949 (GRCm39) probably benign Het
Vmn2r107 A G 17: 20,577,006 (GRCm39) T335A possibly damaging Het
Wdtc1 A T 4: 133,024,789 (GRCm39) S469R possibly damaging Het
Ypel1 A G 16: 16,921,466 (GRCm39) Y73H probably benign Het
Zfp382 A T 7: 29,833,162 (GRCm39) Y271F probably benign 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
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