Mutagenetix > Incidental Mutations

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

Is this an essential gene?

Probably non essential (E-score: 0.142) question?

Stock #

R1170 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

71869442-72603709 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 71900734 bp

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]

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: 151,980,412		probably benign	Het
4932438A13Rik	T	C	3: 37,044,631	S1136P	probably damaging	Het
Akap9	G	A	5: 4,055,671	S2914N	probably benign	Het
Ap3d1	A	G	10: 80,732,840		probably benign	Het
Asb15	T	C	6: 24,562,487		probably benign	Het
Asxl3	C	A	18: 22,524,507	P1858Q	probably benign	Het
BC003331	T	A	1: 150,386,391	E99D	probably benign	Het
Bud31	T	A	5: 145,142,578		probably benign	Het
C1qtnf1	G	T	11: 118,448,269	R255L	probably damaging	Het
Cacna2d4	C	T	6: 119,307,286	R745W	probably damaging	Het
Cage1	C	T	13: 38,022,880	E330K	probably damaging	Het
Catsperz	T	A	19: 6,924,949	N59I	probably benign	Het
Ccdc110	G	T	8: 45,941,885	S271I	probably benign	Het
Ccdc88b	T	A	19: 6,853,213	E787V	probably damaging	Het
Ccna2	A	T	3: 36,568,970		probably benign	Het
Cd36	T	A	5: 17,813,088	D209V	probably damaging	Het
Cers4	T	A	8: 4,519,475	W161R	probably damaging	Het
Ces2f	T	A	8: 104,953,546	H442Q	probably damaging	Het
Chchd6	A	C	6: 89,384,687	C245G	probably damaging	Het
Cndp1	T	G	18: 84,611,625	Q481P	probably benign	Het
Col3a1	A	G	1: 45,327,601	R234G	unknown	Het
Col3a1	A	T	1: 45,347,724	N232I	probably damaging	Het
Colgalt2	A	T	1: 152,503,017	D398V	probably damaging	Het
Cxcl10	TACTCAC	TACTCACTCAC	5: 92,348,082		probably null	Het
Dcdc2a	C	A	13: 25,056,307	Q13K	probably benign	Het
Dzip3	A	T	16: 48,961,208	I240N	probably damaging	Het
Epb41l3	T	A	17: 69,259,180	L452*	probably null	Het
Fam193b	C	T	13: 55,541,705	A753T	probably damaging	Het
Fam35a	A	T	14: 34,268,491	S153T	possibly damaging	Het
Fam47e	G	C	5: 92,565,922		probably benign	Het
Fastkd1	A	G	2: 69,708,649		probably benign	Het
Fmnl1	G	A	11: 103,197,370	G69D	probably benign	Het
Foxn2	A	G	17: 88,473,666		probably benign	Het
Fsip2	A	G	2: 82,991,500	E5859G	possibly damaging	Het
Gm9894	T	A	13: 67,764,701		noncoding transcript	Het
H2-Bl	T	C	17: 36,081,091	N44S	possibly damaging	Het
Helz2	T	C	2: 181,229,815	Y2668C	probably damaging	Het
Hhipl1	T	A	12: 108,311,693	C93*	probably null	Het
Lig1	C	T	7: 13,292,153	A278V	probably benign	Het
Lipn	T	A	19: 34,071,758	I108K	probably benign	Het
Lsamp	A	G	16: 42,151,229		probably benign	Het
Map3k14	A	G	11: 103,238,917		probably benign	Het
Mdm4	A	T	1: 132,991,820	C436S	probably damaging	Het
Mdm4	A	G	1: 133,012,692	L33P	probably damaging	Het
Meiob	T	C	17: 24,836,484	W422R	probably damaging	Het
Mppe1	T	C	18: 67,227,706	Y254C	probably damaging	Het
Mterf1a	A	T	5: 3,890,964	N301K	probably benign	Het
Muc6	C	T	7: 141,644,233	S1210N	probably damaging	Het
Mycbp2	A	T	14: 103,200,152	Y2091*	probably null	Het
Mylk	G	A	16: 34,874,039	R156H	probably benign	Het
Myo15	G	T	11: 60,479,407	D998Y	probably benign	Het
Neb	A	T	2: 52,196,357	Y5235N	probably damaging	Het
Nop58	A	G	1: 59,704,211		probably benign	Het
Nr4a3	A	G	4: 48,051,564	H135R	probably damaging	Het
Nr4a3	A	G	4: 48,083,324	K619R	probably benign	Het
Nrg1	T	C	8: 31,837,667		probably benign	Het
Olfr1031	A	T	2: 85,992,696	N293I	probably damaging	Het
Olfr1312	A	T	2: 112,042,215	D272E	probably benign	Het
Olfr1484	T	C	19: 13,586,213	V260A	probably benign	Het
Olfr938	T	A	9: 39,078,229	D172V	possibly damaging	Het
Parp3	T	C	9: 106,476,005		probably benign	Het
Pde2a	A	G	7: 101,484,543	E103G	probably benign	Het
Pds5a	A	T	5: 65,635,302		probably benign	Het
Pip4k2c	A	G	10: 127,211,393	V40A	unknown	Het
Pitrm1	T	C	13: 6,552,744		probably benign	Het
Plk4	A	G	3: 40,801,847	I64M	probably damaging	Het
Ppp1r16a	C	T	15: 76,693,669	Q328*	probably null	Het
Ppp2r1a	T	C	17: 20,951,331		probably benign	Het
Ppp4r3b	T	A	11: 29,209,426	N172K	probably damaging	Het
Prkcg	G	A	7: 3,319,661	R357Q	probably damaging	Het
Prmt3	T	C	7: 49,848,547		probably null	Het
Prx	T	A	7: 27,518,007	C644*	probably null	Het
Ptpru	A	G	4: 131,808,527		probably benign	Het
Rbm5	A	T	9: 107,742,497	D738E	probably damaging	Het
Recql5	A	T	11: 115,897,234	Y420N	probably damaging	Het
Rnf17	T	C	14: 56,425,631	I152T	probably benign	Het
Rnpepl1	A	G	1: 92,919,195	S580G	possibly damaging	Het
Ryr3	C	T	2: 112,946,987	G275D	probably damaging	Het
Serpinb9e	T	A	13: 33,257,752	Y222*	probably null	Het
Slc10a1	T	A	12: 80,956,028	I279F	probably damaging	Het
Slc12a8	G	T	16: 33,662,977	G584V	probably damaging	Het
Slc35b3	T	A	13: 38,937,331	Y311F	probably benign	Het
Slc44a5	A	G	3: 154,257,720		probably null	Het
Slc6a9	A	G	4: 117,864,806	E422G	possibly damaging	Het
Smpd2	A	G	10: 41,488,732		probably null	Het
Spast	A	G	17: 74,381,968		probably null	Het
Spink5	A	T	18: 43,983,563	E208V	probably benign	Het
Stag1	T	C	9: 100,888,453		probably benign	Het
Stambp	A	G	6: 83,563,821		probably null	Het
Sult3a2	A	T	10: 33,777,192	M184K	possibly damaging	Het
Tcp11	T	C	17: 28,071,662	D162G	probably damaging	Het
Themis	A	C	10: 28,668,748	E30A	possibly damaging	Het
Tmc7	G	A	7: 118,551,260	S350L	probably benign	Het
Tmem131	A	T	1: 36,834,898	Y271*	probably null	Het
Trim35	T	A	14: 66,308,799	S338R	probably benign	Het
Trim42	C	A	9: 97,363,620	V376F	probably benign	Het
Tshr	A	T	12: 91,538,097	K11M	probably damaging	Het
Vps8	A	G	16: 21,459,820		probably benign	Het
Wdr11	T	C	7: 129,607,107		probably benign	Het
Wdr26	A	T	1: 181,181,294		probably benign	Het
Wdtc1	A	G	4: 133,297,546	Y447H	probably damaging	Het
Zfp687	C	T	3: 95,008,473	C996Y	probably damaging	Het
Zfp984	A	T	4: 147,755,989	V135E	probably benign	Het
Zranb2	T	C	3: 157,541,865		probably benign	Het

Other mutations in Alk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00401:Alk	APN	17	71895748	missense	probably damaging	1.00
IGL00796:Alk	APN	17	71905142	missense	possibly damaging	0.88
IGL01096:Alk	APN	17	71921896	missense	possibly damaging	0.87
IGL01367:Alk	APN	17	71900786	missense	probably damaging	1.00
IGL01402:Alk	APN	17	71874178	missense	probably damaging	1.00
IGL01652:Alk	APN	17	72603531	missense	probably damaging	1.00
IGL01717:Alk	APN	17	72603382	missense	probably benign
IGL02301:Alk	APN	17	71874176	missense	probably damaging	0.99
IGL02403:Alk	APN	17	71901393	missense	probably damaging	1.00
IGL02452:Alk	APN	17	71902625	nonsense	probably null
IGL02724:Alk	APN	17	71985460	missense	probably benign	0.00
IGL02826:Alk	APN	17	71869536	missense	probably damaging	1.00
IGL02863:Alk	APN	17	71897835	missense	probably damaging	1.00
IGL02994:Alk	APN	17	71949820	missense	probably benign	0.00
IGL03329:Alk	APN	17	71899164	splice site	probably benign
PIT4382001:Alk	UTSW	17	71949921	missense	probably benign
R0157:Alk	UTSW	17	71949845	missense	probably benign	0.00
R0211:Alk	UTSW	17	72603516	missense	probably damaging	1.00
R0257:Alk	UTSW	17	72603495	missense	probably damaging	1.00
R0269:Alk	UTSW	17	72603583	missense	probably damaging	1.00
R0395:Alk	UTSW	17	72603531	missense	probably damaging	0.99
R0414:Alk	UTSW	17	71899286	splice site	probably benign
R0466:Alk	UTSW	17	71905157	missense	possibly damaging	0.51
R0526:Alk	UTSW	17	71869753	missense	probably damaging	1.00
R0617:Alk	UTSW	17	72603583	missense	probably damaging	1.00
R0781:Alk	UTSW	17	71984745	splice site	probably benign
R0830:Alk	UTSW	17	72603200	missense	probably benign	0.01
R0835:Alk	UTSW	17	71869842	missense	probably damaging	0.97
R0894:Alk	UTSW	17	71895935	missense	probably damaging	1.00
R1110:Alk	UTSW	17	71984745	splice site	probably benign
R1573:Alk	UTSW	17	72603118	missense	possibly damaging	0.69
R1667:Alk	UTSW	17	71911567	missense	probably damaging	1.00
R1748:Alk	UTSW	17	72603421	missense	probably benign	0.19
R1767:Alk	UTSW	17	71900698	missense	possibly damaging	0.73
R1836:Alk	UTSW	17	71891037	missense	probably damaging	1.00
R1861:Alk	UTSW	17	71874938	splice site	probably benign
R2905:Alk	UTSW	17	71985494	missense	probably benign	0.40
R2925:Alk	UTSW	17	72603207	missense	probably benign
R3727:Alk	UTSW	17	71901400	splice site	probably benign
R3747:Alk	UTSW	17	71911565	missense	probably damaging	0.99
R3790:Alk	UTSW	17	72603432	missense	possibly damaging	0.95
R3909:Alk	UTSW	17	71897911	missense	probably benign	0.00
R3934:Alk	UTSW	17	72205954	missense	probably damaging	1.00
R3936:Alk	UTSW	17	72205954	missense	probably damaging	1.00
R3972:Alk	UTSW	17	71985447	missense	probably benign	0.16
R4433:Alk	UTSW	17	71899241	nonsense	probably null
R4716:Alk	UTSW	17	72205942	missense	probably damaging	1.00
R4903:Alk	UTSW	17	71869563	missense	probably damaging	1.00
R4921:Alk	UTSW	17	71904315	missense	probably benign	0.30
R4954:Alk	UTSW	17	71902692	nonsense	probably null
R5377:Alk	UTSW	17	71895739	missense	probably damaging	1.00
R5386:Alk	UTSW	17	71875012	missense	probably damaging	1.00
R5551:Alk	UTSW	17	71875033	missense	possibly damaging	0.53
R5704:Alk	UTSW	17	72603120	missense	probably damaging	1.00
R5877:Alk	UTSW	17	71967526	missense	probably damaging	1.00
R5888:Alk	UTSW	17	71874943	missense	probably damaging	1.00
R6013:Alk	UTSW	17	71900737	missense	probably benign	0.15
R6044:Alk	UTSW	17	71992100	missense	probably benign	0.00
R6058:Alk	UTSW	17	71869747	missense	probably benign	0.01
R6126:Alk	UTSW	17	71875042	missense	possibly damaging	0.82
R6286:Alk	UTSW	17	71880847	missense	probably damaging	0.98
R6744:Alk	UTSW	17	72603082	missense	probably benign	0.35
R6989:Alk	UTSW	17	71897952	missense	probably benign	0.00
R7487:Alk	UTSW	17	71949898	missense	probably benign
R7573:Alk	UTSW	17	71900792	missense	probably damaging	1.00
R7838:Alk	UTSW	17	71967554	missense	possibly damaging	0.53
R8055:Alk	UTSW	17	71899257	missense	probably benign	0.19
R8211:Alk	UTSW	17	71869707	missense	probably benign
RF013:Alk	UTSW	17	71895936	missense	probably damaging	1.00
RF018:Alk	UTSW	17	71949813	missense	probably benign	0.09
Z1088:Alk	UTSW	17	72205807	missense	probably damaging	0.96
Z1177:Alk	UTSW	17	72603063	missense	probably damaging	0.97

Predicted Primers

Posted On

2014-01-15