Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01652:Alk'

102856

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 #

IGL01652

Quality Score

Status

Chromosome

Chromosomal Location

72175967-72911622 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 72910526 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 60 (V60E)

Ref Sequence

ENSEMBL: ENSMUSP00000083840 (fasta)

Gene Model

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

AlphaFold

P97793

Predicted Effect

probably damaging
Transcript: ENSMUST00000086639
AA Change: V60E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000083840
Gene: ENSMUSG00000055471
AA Change: V60E

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: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank2	T	C	3: 126,726,690 (GRCm39)	K868R	probably benign	Het
Ankrd13a	A	T	5: 114,929,397 (GRCm39)	D158V	probably damaging	Het
Arhgap12	G	T	18: 6,061,853 (GRCm39)	N380K	possibly damaging	Het
Cpn1	A	T	19: 43,974,533 (GRCm39)	F65L	possibly damaging	Het
Dlec1	T	A	9: 118,972,975 (GRCm39)	H1496Q	probably benign	Het
Dock1	C	T	7: 134,379,226 (GRCm39)		probably benign	Het
Dok1	T	C	6: 83,009,543 (GRCm39)	N143D	probably damaging	Het
Fcmr	C	T	1: 130,806,244 (GRCm39)	P363L	probably benign	Het
Galk2	A	G	2: 125,738,685 (GRCm39)	T171A	probably benign	Het
Hrh3	G	T	2: 179,742,896 (GRCm39)	P244Q	possibly damaging	Het
Icam1	T	C	9: 20,930,472 (GRCm39)	Y109H	probably damaging	Het
Nup93	T	C	8: 95,023,187 (GRCm39)	V132A	possibly damaging	Het
Or4c113	A	T	2: 88,884,913 (GRCm39)	Y286N	probably damaging	Het
Pla2g4f	T	C	2: 120,132,716 (GRCm39)	I707V	possibly damaging	Het
Rpgrip1	G	A	14: 52,382,949 (GRCm39)		probably benign	Het
Sbf2	A	T	7: 110,046,327 (GRCm39)	V290E	probably damaging	Het
Stard3	T	G	11: 98,269,559 (GRCm39)		probably benign	Het
Sufu	T	C	19: 46,464,059 (GRCm39)	Y424H	probably damaging	Het
Trim35	T	G	14: 66,546,250 (GRCm39)	V339G	probably damaging	Het
Vmn1r80	A	G	7: 11,927,063 (GRCm39)	I58V	probably benign	Het

Other mutations in Alk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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

2014-01-21