Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00796:Alk'

8791

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 #

IGL00796

Quality Score

Status

Chromosome

Chromosomal Location

72175967-72911622 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 72212137 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 802 (N802I)

Ref Sequence

ENSEMBL: ENSMUSP00000083840 (fasta)

Gene Model

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

AlphaFold

P97793

Predicted Effect

possibly damaging
Transcript: ENSMUST00000086639
AA Change: N802I

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000083840
Gene: ENSMUSG00000055471
AA Change: N802I

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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adh5	A	G	3: 138,156,742 (GRCm39)	T143A	probably benign	Het
Aspn	A	G	13: 49,710,893 (GRCm39)	I179M	probably damaging	Het
Bptf	A	G	11: 106,945,376 (GRCm39)	L2506P	probably damaging	Het
Cacna1f	T	A	X: 7,497,270 (GRCm39)	D1594E	probably damaging	Het
Chd7	T	A	4: 8,847,271 (GRCm39)	N1671K	possibly damaging	Het
Dnah7b	T	C	1: 46,250,497 (GRCm39)	V1706A	probably damaging	Het
Elmo2	A	T	2: 165,133,934 (GRCm39)		probably benign	Het
Ercc6	T	C	14: 32,291,959 (GRCm39)	S1108P	probably benign	Het
Fam53a	A	T	5: 33,758,171 (GRCm39)	D317E	probably benign	Het
Gria2	T	C	3: 80,618,097 (GRCm39)	N313D	probably benign	Het
Itch	A	T	2: 155,051,002 (GRCm39)	H563L	probably damaging	Het
Kdm1a	G	A	4: 136,281,558 (GRCm39)	A651V	probably damaging	Het
Myb	T	G	10: 21,017,698 (GRCm39)	Q631P	probably benign	Het
Myh9	A	T	15: 77,681,195 (GRCm39)		probably benign	Het
Nars2	C	A	7: 96,680,786 (GRCm39)	L319I	probably benign	Het
Nars2	T	A	7: 96,680,787 (GRCm39)	L319Q	probably benign	Het
Pdcl2	G	A	5: 76,467,022 (GRCm39)	T57I	probably damaging	Het
Pde6g	T	A	11: 120,341,390 (GRCm39)	I17L	probably benign	Het
Ppp1r9a	T	A	6: 5,157,014 (GRCm39)	M964K	probably benign	Het
Ssxb2	A	G	X: 8,324,459 (GRCm39)		probably benign	Het
Tonsl	T	C	15: 76,509,349 (GRCm39)	T8A	probably benign	Het
Zdbf2	T	C	1: 63,346,364 (GRCm39)	M1581T	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
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
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

2012-12-06