Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02301:Alk'

290298

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: 0.184) question?

Stock #

IGL02301

Quality Score

Status

Chromosome

Chromosomal Location

71869442-72603709 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 71874176 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 1373 (Q1373R)

Ref Sequence

ENSEMBL: ENSMUSP00000083840 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086639]

AlphaFold

P97793

Predicted Effect

probably damaging
Transcript: ENSMUST00000086639
AA Change: Q1373R

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000083840
Gene: ENSMUSG00000055471
AA Change: Q1373R

Domain	Start	End	E-Value	Type
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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap8l	A	G	17: 32,332,926		probably benign	Het
Atf7ip2	T	G	16: 10,211,047	S148A	probably benign	Het
Bpi	C	T	2: 158,274,814	S377F	probably damaging	Het
Ccni	A	T	5: 93,188,175	C122S	possibly damaging	Het
Cd5l	A	G	3: 87,365,993	R90G	probably benign	Het
Ceacam3	C	T	7: 17,163,101	S664F	probably damaging	Het
Clca3a2	A	T	3: 144,806,372	D534E	probably damaging	Het
Ep400	A	T	5: 110,674,960	S2524R	probably damaging	Het
Fhdc1	G	A	3: 84,444,735	A1061V	possibly damaging	Het
Gart	A	G	16: 91,621,837		probably benign	Het
Gm9513	T	C	9: 36,477,187		probably benign	Het
Gsdmc4	A	G	15: 63,895,264	V219A	probably benign	Het
Hus1	T	C	11: 8,996,915	T261A	probably benign	Het
Lman2l	A	G	1: 36,443,543	I84T	probably damaging	Het
Megf8	G	A	7: 25,337,900	V742M	probably damaging	Het
Myo1d	A	G	11: 80,676,853	V267A	probably benign	Het
Notch2	A	G	3: 98,141,554	T1803A	probably benign	Het
Olfr1278	T	A	2: 111,292,697	M143K	probably benign	Het
Olfr23	T	A	11: 73,941,068	M274K	possibly damaging	Het
Olfr814	A	G	10: 129,874,079	F226S	probably damaging	Het
Pde5a	G	A	3: 122,760,885	R208Q	probably damaging	Het
Pla2r1	T	C	2: 60,452,436	N745S	probably benign	Het
Ptgdr2	T	A	19: 10,940,209	I30N	possibly damaging	Het
Rap1gap2	G	A	11: 74,407,369	T415I	probably damaging	Het
Slc6a6	T	C	6: 91,726,056	Y137H	probably benign	Het
Sptbn1	A	T	11: 30,142,129	D532E	probably damaging	Het
Stk39	T	C	2: 68,211,962	D543G	probably damaging	Het
Trpc4	G	A	3: 54,291,232	V526M	probably damaging	Het
Trrap	A	G	5: 144,777,917	I100V	probably benign	Het
Vmn1r-ps123	A	C	13: 22,996,357		noncoding transcript	Het
Vwa5b2	G	A	16: 20,604,790	G1151D	probably damaging	Het
Zfp358	T	A	8: 3,496,858	I480N	probably benign	Het
Zfp423	T	C	8: 87,781,574	D714G	probably damaging	Het

Other mutations in Alk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00401:Alk	APN	17	71895748	missense	probably damaging	1.00
IGL00796:Alk	APN	17	71905142	missense	possibly damaging	0.88
IGL01096:Alk	APN	17	71921896	missense	possibly damaging	0.87
IGL01367:Alk	APN	17	71900786	missense	probably damaging	1.00
IGL01402:Alk	APN	17	71874178	missense	probably damaging	1.00
IGL01652:Alk	APN	17	72603531	missense	probably damaging	1.00
IGL01717:Alk	APN	17	72603382	missense	probably benign
IGL02403:Alk	APN	17	71901393	missense	probably damaging	1.00
IGL02452:Alk	APN	17	71902625	nonsense	probably null
IGL02724:Alk	APN	17	71985460	missense	probably benign	0.00
IGL02826:Alk	APN	17	71869536	missense	probably damaging	1.00
IGL02863:Alk	APN	17	71897835	missense	probably damaging	1.00
IGL02994:Alk	APN	17	71949820	missense	probably benign	0.00
IGL03329:Alk	APN	17	71899164	splice site	probably benign
PIT4382001:Alk	UTSW	17	71949921	missense	probably benign
R0157:Alk	UTSW	17	71949845	missense	probably benign	0.00
R0211:Alk	UTSW	17	72603516	missense	probably damaging	1.00
R0257:Alk	UTSW	17	72603495	missense	probably damaging	1.00
R0269:Alk	UTSW	17	72603583	missense	probably damaging	1.00
R0395:Alk	UTSW	17	72603531	missense	probably damaging	0.99
R0414:Alk	UTSW	17	71899286	splice site	probably benign
R0466:Alk	UTSW	17	71905157	missense	possibly damaging	0.51
R0526:Alk	UTSW	17	71869753	missense	probably damaging	1.00
R0617:Alk	UTSW	17	72603583	missense	probably damaging	1.00
R0781:Alk	UTSW	17	71984745	splice site	probably benign
R0830:Alk	UTSW	17	72603200	missense	probably benign	0.01
R0835:Alk	UTSW	17	71869842	missense	probably damaging	0.97
R0894:Alk	UTSW	17	71895935	missense	probably damaging	1.00
R1110:Alk	UTSW	17	71984745	splice site	probably benign
R1170:Alk	UTSW	17	71900734	missense	probably damaging	1.00
R1573:Alk	UTSW	17	72603118	missense	possibly damaging	0.69
R1667:Alk	UTSW	17	71911567	missense	probably damaging	1.00
R1748:Alk	UTSW	17	72603421	missense	probably benign	0.19
R1767:Alk	UTSW	17	71900698	missense	possibly damaging	0.73
R1836:Alk	UTSW	17	71891037	missense	probably damaging	1.00
R1861:Alk	UTSW	17	71874938	splice site	probably benign
R2905:Alk	UTSW	17	71985494	missense	probably benign	0.40
R2925:Alk	UTSW	17	72603207	missense	probably benign
R3727:Alk	UTSW	17	71901400	splice site	probably benign
R3747:Alk	UTSW	17	71911565	missense	probably damaging	0.99
R3790:Alk	UTSW	17	72603432	missense	possibly damaging	0.95
R3909:Alk	UTSW	17	71897911	missense	probably benign	0.00
R3934:Alk	UTSW	17	72205954	missense	probably damaging	1.00
R3936:Alk	UTSW	17	72205954	missense	probably damaging	1.00
R3972:Alk	UTSW	17	71985447	missense	probably benign	0.16
R4433:Alk	UTSW	17	71899241	nonsense	probably null
R4716:Alk	UTSW	17	72205942	missense	probably damaging	1.00
R4903:Alk	UTSW	17	71869563	missense	probably damaging	1.00
R4921:Alk	UTSW	17	71904315	missense	probably benign	0.30
R4954:Alk	UTSW	17	71902692	nonsense	probably null
R5377:Alk	UTSW	17	71895739	missense	probably damaging	1.00
R5386:Alk	UTSW	17	71875012	missense	probably damaging	1.00
R5551:Alk	UTSW	17	71875033	missense	possibly damaging	0.53
R5704:Alk	UTSW	17	72603120	missense	probably damaging	1.00
R5877:Alk	UTSW	17	71967526	missense	probably damaging	1.00
R5888:Alk	UTSW	17	71874943	missense	probably damaging	1.00
R6013:Alk	UTSW	17	71900737	missense	probably benign	0.15
R6044:Alk	UTSW	17	71992100	missense	probably benign	0.00
R6058:Alk	UTSW	17	71869747	missense	probably benign	0.01
R6126:Alk	UTSW	17	71875042	missense	possibly damaging	0.82
R6286:Alk	UTSW	17	71880847	missense	probably damaging	0.98
R6744:Alk	UTSW	17	72603082	missense	probably benign	0.35
R6989:Alk	UTSW	17	71897952	missense	probably benign	0.00
R7487:Alk	UTSW	17	71949898	missense	probably benign
R7573:Alk	UTSW	17	71900792	missense	probably damaging	1.00
R7838:Alk	UTSW	17	71967554	missense	possibly damaging	0.53
R8055:Alk	UTSW	17	71899257	missense	probably benign	0.19
R8211:Alk	UTSW	17	71869707	missense	probably benign
R8555:Alk	UTSW	17	71921874	missense	probably damaging	1.00
R8676:Alk	UTSW	17	71897941	missense	probably damaging	0.98
R8847:Alk	UTSW	17	71949825	missense	probably benign	0.14
R8885:Alk	UTSW	17	71895763	missense	probably damaging	1.00
R9177:Alk	UTSW	17	71874195	missense	probably damaging	1.00
R9239:Alk	UTSW	17	71949869	missense	probably benign	0.04
R9268:Alk	UTSW	17	71874195	missense	probably damaging	1.00
R9682:Alk	UTSW	17	71875063	missense	possibly damaging	0.95
RF013:Alk	UTSW	17	71895936	missense	probably damaging	1.00
RF018:Alk	UTSW	17	71949813	missense	probably benign	0.09
Z1088:Alk	UTSW	17	72205807	missense	probably damaging	0.96
Z1177:Alk	UTSW	17	72603063	missense	probably damaging	0.97

Posted On

2015-04-16