Mutagenetix > Incidental Mutation

Incidental Mutation 'R8885:Alk'

677290

Institutional Source

Beutler Lab

Gene Symbol

Alk

Ensembl Gene

ENSMUSG00000055471

Gene Name

anaplastic lymphoma kinase

Synonyms

CD246, Tcrz

MMRRC Submission

068751-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.143) question?

Stock #

R8885 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

72175967-72911622 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 72202758 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 1159 (V1159G)

Ref Sequence

ENSEMBL: ENSMUSP00000083840 (fasta)

Gene Model

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

AlphaFold

P97793

Predicted Effect

probably damaging
Transcript: ENSMUST00000086639
AA Change: V1159G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000083840
Gene: ENSMUSG00000055471
AA Change: V1159G

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: 99.7%
20x: 99.0%

Validation Efficiency

100% (104/104)

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: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	T	13: 77,471,525 (GRCm39)	S977C	possibly damaging	Het
Abca8a	T	A	11: 109,960,305 (GRCm39)	D646V	probably damaging	Het
Adss2	T	A	1: 177,597,526 (GRCm39)	Y378F	probably damaging	Het
Akap6	C	T	12: 53,188,319 (GRCm39)	A1911V	probably benign	Het
Alg2	T	C	4: 47,474,159 (GRCm39)	Y43C	probably benign	Het
Alx3	A	T	3: 107,508,010 (GRCm39)	Q173L	probably damaging	Het
Aqp9	A	G	9: 71,069,593 (GRCm39)		probably benign	Het
Atf7ip	C	A	6: 136,564,141 (GRCm39)	L787I	probably benign	Het
Bbs9	A	T	9: 22,590,234 (GRCm39)	E657D	possibly damaging	Het
Bean1	G	A	8: 104,908,752 (GRCm39)		probably null	Het
Cactin	G	T	10: 81,157,082 (GRCm39)	R13L	unknown	Het
Ccdc178	T	C	18: 22,200,721 (GRCm39)	E412G	probably damaging	Het
Ccdc30	A	G	4: 119,181,759 (GRCm39)	I583T	probably damaging	Het
Ccl8	T	C	11: 82,006,933 (GRCm39)	Y49H	probably damaging	Het
Clptm1	T	A	7: 19,372,932 (GRCm39)	K199N	probably damaging	Het
Cnbp	G	A	6: 87,822,646 (GRCm39)	S39L	probably benign	Het
Cnih3	T	A	1: 181,237,437 (GRCm39)		probably benign	Het
Cnksr3	A	T	10: 7,090,201 (GRCm39)		probably benign	Het
Cntn1	A	G	15: 92,159,380 (GRCm39)	I512V	probably benign	Het
Col20a1	A	G	2: 180,640,296 (GRCm39)		probably benign	Het
Col28a1	A	T	6: 8,127,360 (GRCm39)		probably benign	Het
Col6a2	A	T	10: 76,450,741 (GRCm39)	Y63*	probably null	Het
Copa	T	G	1: 171,925,312 (GRCm39)	F190V	probably damaging	Het
Crisp4	A	C	1: 18,207,148 (GRCm39)		probably benign	Het
Cxcl2	C	T	5: 91,052,085 (GRCm39)	Q64*	probably null	Het
Cxcr5	T	C	9: 44,425,549 (GRCm39)	D36G	probably benign	Het
Cyp20a1	T	A	1: 60,411,765 (GRCm39)	V271E	possibly damaging	Het
D430041D05Rik	T	C	2: 104,071,538 (GRCm39)	Y570C	probably damaging	Het
Ddi1	T	G	9: 6,266,198 (GRCm39)	D57A	probably benign	Het
Ddx11	T	A	17: 66,450,460 (GRCm39)	S492T	probably benign	Het
Dhx34	C	T	7: 15,950,376 (GRCm39)	R264H	probably damaging	Het
Dnah3	T	A	7: 119,561,375 (GRCm39)	I328F		Het
Dnah5	C	T	15: 28,327,886 (GRCm39)	R2087C	probably damaging	Het
Dnah8	C	G	17: 30,927,286 (GRCm39)	S1314W	possibly damaging	Het
Dock2	T	C	11: 34,260,396 (GRCm39)	N982D	probably benign	Het
Dync1h1	A	G	12: 110,583,172 (GRCm39)	D423G	probably damaging	Het
Ect2l	A	C	10: 18,048,583 (GRCm39)	L213V	probably damaging	Het
Fam210a	T	C	18: 68,409,215 (GRCm39)	I32V	probably benign	Het
Fancg	A	G	4: 43,007,266 (GRCm39)		probably null	Het
Fastkd5	T	C	2: 130,457,111 (GRCm39)	E493G	probably benign	Het
Fbxo38	T	C	18: 62,659,272 (GRCm39)	M342V	probably damaging	Het
Flnc	A	C	6: 29,455,410 (GRCm39)	K2020Q	probably damaging	Het
Flt4	A	G	11: 49,527,160 (GRCm39)		probably benign	Het
Frmd4b	G	T	6: 97,389,480 (GRCm39)	P129T	probably benign	Het
Galnt13	C	A	2: 54,770,138 (GRCm39)	A310E	probably benign	Het
Gm4884	T	A	7: 40,694,108 (GRCm39)	Y692*	probably null	Het
Gm6309	T	A	5: 146,105,103 (GRCm39)	D270V	probably damaging	Het
Grip1	G	T	10: 119,290,192 (GRCm39)		probably benign	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Kdf1	G	T	4: 133,255,505 (GRCm39)	C74F	probably damaging	Het
Kdm1b	T	A	13: 47,207,184 (GRCm39)	C169*	probably null	Het
Kmt2c	G	T	5: 25,520,077 (GRCm39)	T2011K	probably benign	Het
Lama1	G	A	17: 68,080,779 (GRCm39)	G1269E		Het
Lamb3	C	T	1: 193,017,182 (GRCm39)	A791V	probably benign	Het
Leng9	G	T	7: 4,151,774 (GRCm39)	R301S	possibly damaging	Het
Lgr6	C	A	1: 134,915,342 (GRCm39)	V746L	probably benign	Het
Lrp5	T	A	19: 3,702,170 (GRCm39)	S216C	probably damaging	Het
Ltn1	T	C	16: 87,178,433 (GRCm39)	T1599A	probably damaging	Het
Map2k1	G	T	9: 64,094,606 (GRCm39)	N345K	probably damaging	Het
Map4k1	T	A	7: 28,688,862 (GRCm39)	D304E	probably benign	Het
Mcpt1	C	T	14: 56,256,522 (GRCm39)	T86I	probably damaging	Het
Mcpt9	T	C	14: 56,265,153 (GRCm39)	K116R	probably benign	Het
Morc2a	G	T	11: 3,628,584 (GRCm39)	A346S	probably damaging	Het
Mybpc3	A	T	2: 90,954,237 (GRCm39)	Q370L	probably benign	Het
Nars2	T	C	7: 96,652,095 (GRCm39)	S229P	probably damaging	Het
Ndufa10	A	T	1: 92,397,693 (GRCm39)	Y118N	probably damaging	Het
Nek11	A	T	9: 105,172,571 (GRCm39)		probably null	Het
Notch4	T	C	17: 34,803,470 (GRCm39)	V1463A	possibly damaging	Het
Nrcam	T	C	12: 44,610,908 (GRCm39)	I536T	probably benign	Het
Or6c202	T	C	10: 128,996,334 (GRCm39)	Y173C	probably benign	Het
Pbld1	A	T	10: 62,912,226 (GRCm39)	T285S	probably benign	Het
Pcdhgb8	A	T	18: 37,896,177 (GRCm39)	T416S	possibly damaging	Het
Plekhg6	T	C	6: 125,351,523 (GRCm39)	D242G	probably damaging	Het
Pnmt	T	A	11: 98,278,580 (GRCm39)	V182D	probably benign	Het
Ppp1r13b	G	T	12: 111,799,871 (GRCm39)	N758K	probably damaging	Het
Prex2	A	G	1: 11,240,799 (GRCm39)		probably benign	Het
Prss3	A	T	6: 41,354,512 (GRCm39)	L7Q	probably damaging	Het
Prss43	T	A	9: 110,660,046 (GRCm39)	L370Q	probably damaging	Het
Rac1	A	T	5: 143,493,885 (GRCm39)	V104E	probably damaging	Het
Rgs9	T	C	11: 109,166,449 (GRCm39)	Y107C	probably damaging	Het
Rnase13	C	T	14: 52,159,940 (GRCm39)	W66*	probably null	Het
Rrp1b	G	A	17: 32,270,688 (GRCm39)	V216I	possibly damaging	Het
Serinc1	A	G	10: 57,395,864 (GRCm39)	S309P	probably benign	Het
Serpine3	T	A	14: 62,902,587 (GRCm39)	L66Q	probably damaging	Het
Smc5	C	T	19: 23,191,234 (GRCm39)	V924M	probably damaging	Het
Spmip4	A	T	6: 50,551,028 (GRCm39)	Y474N	possibly damaging	Het
Srgap1	A	T	10: 121,761,545 (GRCm39)		probably benign	Het
Stab1	T	C	14: 30,883,771 (GRCm39)	E262G	possibly damaging	Het
Ston2	A	G	12: 91,606,498 (GRCm39)	*896R	probably null	Het
Syt6	A	G	3: 103,532,941 (GRCm39)	M442V	probably benign	Het
Tap1	T	C	17: 34,408,536 (GRCm39)		probably null	Het
Tbx3	A	C	5: 119,818,624 (GRCm39)	S420R	probably benign	Het
Tespa1	A	T	10: 130,198,316 (GRCm39)	Q446L	probably benign	Het
Tifab	T	C	13: 56,324,108 (GRCm39)	M112V	probably benign	Het
Trpv5	A	T	6: 41,630,192 (GRCm39)	S633T	possibly damaging	Het
Ttn	T	C	2: 76,684,236 (GRCm39)	K838R	unknown	Het
Ttn	A	T	2: 76,744,810 (GRCm39)	V5413E	probably damaging	Het
Tub	C	A	7: 108,628,793 (GRCm39)	N415K		Het
Vmn2r3	T	C	3: 64,182,383 (GRCm39)	M439V	probably benign	Het
Vps13c	A	G	9: 67,850,736 (GRCm39)	D2231G	probably benign	Het
Wbp1	C	T	6: 83,096,913 (GRCm39)	C118Y	unknown	Het
Zdhhc20	C	T	14: 58,127,671 (GRCm39)		probably benign	Het
Zfp217	T	A	2: 169,956,391 (GRCm39)	N869I	probably benign	Het
Zfp677	T	C	17: 21,618,350 (GRCm39)	I469T	probably benign	Het
Zmym2	T	A	14: 57,185,329 (GRCm39)		probably benign	Het
Zzef1	T	G	11: 72,687,402 (GRCm39)	S94A	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
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
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

Predicted Primers

PCR Primer
(F):5'- GAGAGCCACTCAGATACTCCCTAAG -3'
(R):5'- GTATGAAGGCCAGGTGTCTG -3'

Sequencing Primer
(F):5'- CTCCCTAAGATAATCATTGTGGACTG -3'
(R):5'- TGTCTGGAATGCCCAATGAC -3'

Posted On

2021-08-02