Mutagenetix > Incidental Mutation

Incidental Mutation 'R1170:Alk'

99352

Institutional Source

Beutler Lab

Gene Symbol

Alk

Ensembl Gene

ENSMUSG00000055471

Gene Name

anaplastic lymphoma kinase

Synonyms

CD246, Tcrz

MMRRC Submission

039243-MU

Accession Numbers

Essential gene?

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

Stock #

R1170 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

72175967-72911622 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 72207729 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1002 (D1002G)

Ref Sequence

ENSEMBL: ENSMUSP00000083840 (fasta)

Gene Model

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

AlphaFold

P97793

Predicted Effect

probably damaging
Transcript: ENSMUST00000086639
AA Change: D1002G

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

SMART Domains

Protein: ENSMUSP00000083840
Gene: ENSMUSG00000055471
AA Change: D1002G

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

Meta Mutation Damage Score

0.1999

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.0%

Validation Efficiency

100% (105/105)

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: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700025G04Rik	A	G	1: 151,856,163 (GRCm39)		probably benign	Het
Akap9	G	A	5: 4,105,671 (GRCm39)	S2914N	probably benign	Het
Ap3d1	A	G	10: 80,568,674 (GRCm39)		probably benign	Het
Asb15	T	C	6: 24,562,486 (GRCm39)		probably benign	Het
Asxl3	C	A	18: 22,657,564 (GRCm39)	P1858Q	probably benign	Het
Bltp1	T	C	3: 37,098,780 (GRCm39)	S1136P	probably damaging	Het
Bud31	T	A	5: 145,079,388 (GRCm39)		probably benign	Het
C1qtnf1	G	T	11: 118,339,095 (GRCm39)	R255L	probably damaging	Het
Cacna2d4	C	T	6: 119,284,247 (GRCm39)	R745W	probably damaging	Het
Cage1	C	T	13: 38,206,856 (GRCm39)	E330K	probably damaging	Het
Catsperz	T	A	19: 6,902,317 (GRCm39)	N59I	probably benign	Het
Ccdc110	G	T	8: 46,394,922 (GRCm39)	S271I	probably benign	Het
Ccdc88b	T	A	19: 6,830,581 (GRCm39)	E787V	probably damaging	Het
Ccna2	A	T	3: 36,623,119 (GRCm39)		probably benign	Het
Cd36	T	A	5: 18,018,086 (GRCm39)	D209V	probably damaging	Het
Cers4	T	A	8: 4,569,475 (GRCm39)	W161R	probably damaging	Het
Ces2f	T	A	8: 105,680,178 (GRCm39)	H442Q	probably damaging	Het
Chchd6	A	C	6: 89,361,669 (GRCm39)	C245G	probably damaging	Het
Cndp1	T	G	18: 84,629,750 (GRCm39)	Q481P	probably benign	Het
Col3a1	A	G	1: 45,366,761 (GRCm39)	R234G	unknown	Het
Col3a1	A	T	1: 45,386,884 (GRCm39)	N232I	probably damaging	Het
Colgalt2	A	T	1: 152,378,768 (GRCm39)	D398V	probably damaging	Het
Cxcl10	TACTCAC	TACTCACTCAC	5: 92,495,941 (GRCm39)		probably null	Het
Dcdc2a	C	A	13: 25,240,290 (GRCm39)	Q13K	probably benign	Het
Dzip3	A	T	16: 48,781,571 (GRCm39)	I240N	probably damaging	Het
Epb41l3	T	A	17: 69,566,175 (GRCm39)	L452*	probably null	Het
Fam193b	C	T	13: 55,689,518 (GRCm39)	A753T	probably damaging	Het
Fam47e	G	C	5: 92,713,781 (GRCm39)		probably benign	Het
Fastkd1	A	G	2: 69,538,993 (GRCm39)		probably benign	Het
Fmnl1	G	A	11: 103,088,196 (GRCm39)	G69D	probably benign	Het
Foxn2	A	G	17: 88,781,094 (GRCm39)		probably benign	Het
Fsip2	A	G	2: 82,821,844 (GRCm39)	E5859G	possibly damaging	Het
Gm9894	T	A	13: 67,912,820 (GRCm39)		noncoding transcript	Het
H2-T13	T	C	17: 36,391,983 (GRCm39)	N44S	possibly damaging	Het
Helz2	T	C	2: 180,871,608 (GRCm39)	Y2668C	probably damaging	Het
Hhipl1	T	A	12: 108,277,952 (GRCm39)	C93*	probably null	Het
Lig1	C	T	7: 13,026,079 (GRCm39)	A278V	probably benign	Het
Lipn	T	A	19: 34,049,158 (GRCm39)	I108K	probably benign	Het
Lsamp	A	G	16: 41,971,592 (GRCm39)		probably benign	Het
Map3k14	A	G	11: 103,129,743 (GRCm39)		probably benign	Het
Mdm4	A	T	1: 132,919,558 (GRCm39)	C436S	probably damaging	Het
Mdm4	A	G	1: 132,940,430 (GRCm39)	L33P	probably damaging	Het
Meiob	T	C	17: 25,055,458 (GRCm39)	W422R	probably damaging	Het
Mppe1	T	C	18: 67,360,777 (GRCm39)	Y254C	probably damaging	Het
Mterf1a	A	T	5: 3,940,964 (GRCm39)	N301K	probably benign	Het
Muc6	C	T	7: 141,230,500 (GRCm39)	S1210N	probably damaging	Het
Mycbp2	A	T	14: 103,437,588 (GRCm39)	Y2091*	probably null	Het
Mylk	G	A	16: 34,694,409 (GRCm39)	R156H	probably benign	Het
Myo15a	G	T	11: 60,370,233 (GRCm39)	D998Y	probably benign	Het
Neb	A	T	2: 52,086,369 (GRCm39)	Y5235N	probably damaging	Het
Nop58	A	G	1: 59,743,370 (GRCm39)		probably benign	Het
Nr4a3	A	G	4: 48,083,324 (GRCm39)	K619R	probably benign	Het
Nr4a3	A	G	4: 48,051,564 (GRCm39)	H135R	probably damaging	Het
Nrg1	T	C	8: 32,327,695 (GRCm39)		probably benign	Het
Odr4	T	A	1: 150,262,142 (GRCm39)	E99D	probably benign	Het
Or4f59	A	T	2: 111,872,560 (GRCm39)	D272E	probably benign	Het
Or5b122	T	C	19: 13,563,577 (GRCm39)	V260A	probably benign	Het
Or5m8	A	T	2: 85,823,040 (GRCm39)	N293I	probably damaging	Het
Or8g24	T	A	9: 38,989,525 (GRCm39)	D172V	possibly damaging	Het
Parp3	T	C	9: 106,353,204 (GRCm39)		probably benign	Het
Pde2a	A	G	7: 101,133,750 (GRCm39)	E103G	probably benign	Het
Pds5a	A	T	5: 65,792,645 (GRCm39)		probably benign	Het
Pip4k2c	A	G	10: 127,047,262 (GRCm39)	V40A	unknown	Het
Pitrm1	T	C	13: 6,602,780 (GRCm39)		probably benign	Het
Plk4	A	G	3: 40,756,282 (GRCm39)	I64M	probably damaging	Het
Ppp1r16a	C	T	15: 76,577,869 (GRCm39)	Q328*	probably null	Het
Ppp2r1a	T	C	17: 21,171,593 (GRCm39)		probably benign	Het
Ppp4r3b	T	A	11: 29,159,426 (GRCm39)	N172K	probably damaging	Het
Prkcg	G	A	7: 3,368,177 (GRCm39)	R357Q	probably damaging	Het
Prmt3	T	C	7: 49,498,295 (GRCm39)		probably null	Het
Prx	T	A	7: 27,217,432 (GRCm39)	C644*	probably null	Het
Ptpru	A	G	4: 131,535,838 (GRCm39)		probably benign	Het
Rbm5	A	T	9: 107,619,696 (GRCm39)	D738E	probably damaging	Het
Recql5	A	T	11: 115,788,060 (GRCm39)	Y420N	probably damaging	Het
Rnf17	T	C	14: 56,663,088 (GRCm39)	I152T	probably benign	Het
Rnpepl1	A	G	1: 92,846,917 (GRCm39)	S580G	possibly damaging	Het
Ryr3	C	T	2: 112,777,332 (GRCm39)	G275D	probably damaging	Het
Serpinb9e	T	A	13: 33,441,735 (GRCm39)	Y222*	probably null	Het
Shld2	A	T	14: 33,990,448 (GRCm39)	S153T	possibly damaging	Het
Slc10a1	T	A	12: 81,002,802 (GRCm39)	I279F	probably damaging	Het
Slc12a8	G	T	16: 33,483,347 (GRCm39)	G584V	probably damaging	Het
Slc35b3	T	A	13: 39,121,307 (GRCm39)	Y311F	probably benign	Het
Slc44a5	A	G	3: 153,963,357 (GRCm39)		probably null	Het
Slc6a9	A	G	4: 117,722,003 (GRCm39)	E422G	possibly damaging	Het
Smpd2	A	G	10: 41,364,728 (GRCm39)		probably null	Het
Spast	A	G	17: 74,688,963 (GRCm39)		probably null	Het
Spink5	A	T	18: 44,116,630 (GRCm39)	E208V	probably benign	Het
Stag1	T	C	9: 100,770,506 (GRCm39)		probably benign	Het
Stambp	A	G	6: 83,540,803 (GRCm39)		probably null	Het
Sult3a2	A	T	10: 33,653,188 (GRCm39)	M184K	possibly damaging	Het
Tcp11	T	C	17: 28,290,636 (GRCm39)	D162G	probably damaging	Het
Themis	A	C	10: 28,544,744 (GRCm39)	E30A	possibly damaging	Het
Tmc7	G	A	7: 118,150,483 (GRCm39)	S350L	probably benign	Het
Tmem131	A	T	1: 36,873,979 (GRCm39)	Y271*	probably null	Het
Trim35	T	A	14: 66,546,248 (GRCm39)	S338R	probably benign	Het
Trim42	C	A	9: 97,245,673 (GRCm39)	V376F	probably benign	Het
Tshr	A	T	12: 91,504,871 (GRCm39)	K11M	probably damaging	Het
Vps8	A	G	16: 21,278,570 (GRCm39)		probably benign	Het
Wdr11	T	C	7: 129,208,831 (GRCm39)		probably benign	Het
Wdr26	A	T	1: 181,008,859 (GRCm39)		probably benign	Het
Wdtc1	A	G	4: 133,024,857 (GRCm39)	Y447H	probably damaging	Het
Zfp687	C	T	3: 94,915,784 (GRCm39)	C996Y	probably damaging	Het
Zfp984	A	T	4: 147,840,446 (GRCm39)	V135E	probably benign	Het
Zranb2	T	C	3: 157,247,502 (GRCm39)		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
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

Predicted Primers

Posted On

2014-01-15