Mutagenetix > Incidental Mutation

Incidental Mutation 'R9239:Alk'

700654

Institutional Source

Beutler Lab

Gene Symbol

Alk

Ensembl Gene

ENSMUSG00000055471

Gene Name

anaplastic lymphoma kinase

Synonyms

CD246, Tcrz

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.138) question?

Stock #

R9239 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

72175967-72911622 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 72256864 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 665 (N665I)

Ref Sequence

ENSEMBL: ENSMUSP00000083840 (fasta)

Gene Model

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

AlphaFold

P97793

Predicted Effect

probably benign
Transcript: ENSMUST00000086639
AA Change: N665I

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000083840
Gene: ENSMUSG00000055471
AA Change: N665I

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

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

100% (44/44)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot8	A	G	2: 164,646,608 (GRCm39)		probably null	Het
Aldh1l2	A	G	10: 83,342,496 (GRCm39)	F438S	probably damaging	Het
Anxa4	T	A	6: 86,734,812 (GRCm39)	T59S	probably benign	Het
B3gnt8	ACCCC	ACCC	7: 25,327,676 (GRCm39)		probably null	Het
Cabs1	G	A	5: 88,127,385 (GRCm39)	R12Q	probably benign	Het
Cep152	A	G	2: 125,425,830 (GRCm39)	V845A	probably benign	Het
Dipk1a	T	C	5: 108,059,572 (GRCm39)	E127G	possibly damaging	Het
Dsg1a	T	A	18: 20,473,750 (GRCm39)	V941E	probably damaging	Het
Fbxo11	G	T	17: 88,316,522 (GRCm39)	H284N		Het
Fubp1	A	G	3: 151,923,486 (GRCm39)	E98G	probably damaging	Het
Fyco1	A	G	9: 123,626,637 (GRCm39)	I1358T	probably damaging	Het
Ginm1	T	C	10: 7,649,825 (GRCm39)	N156S	possibly damaging	Het
Gm3739	T	C	14: 18,505,221 (GRCm39)	Y101C	probably damaging	Het
Ide	T	C	19: 37,307,898 (GRCm39)	N38S		Het
Itgb4	T	C	11: 115,898,130 (GRCm39)	V1644A	probably damaging	Het
Itpka	A	G	2: 119,580,023 (GRCm39)	D254G	probably damaging	Het
Kat7	T	A	11: 95,197,020 (GRCm39)	R6S	probably benign	Het
Klhl40	A	T	9: 121,607,637 (GRCm39)	T266S	probably benign	Het
Lratd1	A	G	12: 14,200,185 (GRCm39)	W181R	probably damaging	Het
Mmaa	T	C	8: 79,995,856 (GRCm39)	D289G	probably damaging	Het
Muc5ac	A	T	7: 141,353,954 (GRCm39)	D851V	probably damaging	Het
Or1e29	A	G	11: 73,667,346 (GRCm39)	V269A	probably benign	Het
Or52n4	G	T	7: 104,293,746 (GRCm39)	H278N	probably damaging	Het
Or6b3	T	C	1: 92,439,454 (GRCm39)	T99A	probably benign	Het
Pcdh17	T	G	14: 84,770,649 (GRCm39)	I1042M	probably benign	Het
Pipox	A	G	11: 77,774,765 (GRCm39)	I106T	probably benign	Het
Ppcs	C	T	4: 119,276,235 (GRCm39)	V290M	possibly damaging	Het
Rnasel	T	A	1: 153,630,097 (GRCm39)	N204K	probably damaging	Het
Runx1	A	G	16: 92,402,935 (GRCm39)	Y336H	probably damaging	Het
Sell	A	G	1: 163,893,176 (GRCm39)	I131V	possibly damaging	Het
Serpina3f	A	G	12: 104,184,710 (GRCm39)	R285G	possibly damaging	Het
Slc25a2	A	T	18: 37,771,169 (GRCm39)	M120K	possibly damaging	Het
Slc47a1	A	T	11: 61,250,344 (GRCm39)		probably null	Het
Slc4a11	C	T	2: 130,533,664 (GRCm39)	A100T	probably damaging	Het
Spats2l	A	G	1: 57,871,257 (GRCm39)		probably benign	Het
Spopfm1	T	A	3: 94,173,871 (GRCm39)	V289E	probably benign	Het
Taf1b	T	A	12: 24,606,015 (GRCm39)	L431H	probably damaging	Het
Tectb	CT	C	19: 55,181,094 (GRCm39)		probably null	Het
Thsd7b	G	A	1: 130,087,453 (GRCm39)		probably null	Het
Tmtc4	A	G	14: 123,165,078 (GRCm39)	Y594H	possibly damaging	Het
Trim33	T	C	3: 103,237,453 (GRCm39)	F599L	probably benign	Het
Vcl	A	G	14: 21,072,092 (GRCm39)	D819G	probably damaging	Het
Vmn1r43	G	A	6: 89,846,877 (GRCm39)	T203M	probably damaging	Het
Vmn2r1	G	T	3: 64,011,959 (GRCm39)	V607L	probably damaging	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
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
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'- TGCCTCTTCTCGAGACCAAC -3'
(R):5'- CCCCAATTTCAGTGACTTATGG -3'

Sequencing Primer
(F):5'- GACCAACCATTTTCTTTTAACCACAG -3'
(R):5'- CAGTGACTTATGGTCTTACCTCTAG -3'

Posted On

2022-02-07