Mutagenetix > Incidental Mutation

Incidental Mutation 'R4694:Lck'

355547

Institutional Source

Beutler Lab

Gene Symbol

Lck

Ensembl Gene

ENSMUSG00000000409

Gene Name

lymphocyte protein tyrosine kinase

Synonyms

Hck-3, p56

MMRRC Submission

041945-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4694 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

129442142-129467415 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 129442765 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 452 (N452K)

Ref Sequence

ENSEMBL: ENSMUSP00000099656 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067240] [ENSMUST00000102596] [ENSMUST00000167288]

AlphaFold

P06240

Predicted Effect

possibly damaging
Transcript: ENSMUST00000067240
AA Change: N452K

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000066209
Gene: ENSMUSG00000000409
AA Change: N452K

Domain	Start	End	E-Value	Type
SH3	64	120	3.53e-17	SMART
SH2	125	215	2.07e-34	SMART
TyrKc	245	494	2.66e-133	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102596
AA Change: N452K

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000099656
Gene: ENSMUSG00000000409
AA Change: N452K

Domain	Start	End	E-Value	Type
SH3	64	120	3.53e-17	SMART
SH2	125	215	2.07e-34	SMART
TyrKc	245	494	2.66e-133	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127943

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132030

Predicted Effect

probably benign
Transcript: ENSMUST00000167288
AA Change: N463K

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000125777
Gene: ENSMUSG00000000409
AA Change: N463K

Domain	Start	End	E-Value	Type
SH3	75	131	3.53e-17	SMART
SH2	136	226	2.07e-34	SMART
TyrKc	256	505	2.66e-133	SMART

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the Src family of protein tyrosine kinases (PTKs). The encoded protein is a key signaling molecule in the selection and maturation of developing T-cells. It contains N-terminal sites for myristylation and palmitylation, a PTK domain, and SH2 and SH3 domains which are involved in mediating protein-protein interactions with phosphotyrosine-containing and proline-rich motifs, respectively. The protein localizes to the plasma membrane and pericentrosomal vesicles, and binds to cell surface receptors, including CD4 and CD8, and other signaling molecules. Multiple alternatively spliced variants encoding different isoforms have been described. [provided by RefSeq, Aug 2016]
PHENOTYPE: Mice homozygous for mutations of this gene exhibit thymic atrophy with reduced numbers of peripheral T cells. Null mutants have few double positive and no mature single positive (SP) thymocytes. A hypomorph has decreased expression of CD3epsilon chain onSP thymocytes, whose numbers are reduced. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg5	A	T	17: 84,979,586 (GRCm39)	F258Y	probably damaging	Het
Adamtsl4	C	T	3: 95,587,055 (GRCm39)	R765H	probably damaging	Het
Bicd1	T	A	6: 149,311,051 (GRCm39)	L42Q	probably damaging	Het
Cacna1e	C	T	1: 154,313,012 (GRCm39)		probably null	Het
Capn1	T	A	19: 6,044,761 (GRCm39)	K504*	probably null	Het
Cdh15	G	A	8: 123,588,763 (GRCm39)	R279Q	probably damaging	Het
Cep350	T	C	1: 155,804,332 (GRCm39)	K917R	probably damaging	Het
Cp	A	T	3: 20,029,049 (GRCm39)	T509S	probably benign	Het
Cyp2d10	T	C	15: 82,288,684 (GRCm39)	D266G	probably damaging	Het
Dhodh	C	G	8: 110,333,048 (GRCm39)	R7P	probably damaging	Het
Dmxl2	A	G	9: 54,354,189 (GRCm39)	L419P	probably benign	Het
Epb41l4b	A	T	4: 57,019,875 (GRCm39)	M84K	probably benign	Het
Fbln7	A	G	2: 128,722,345 (GRCm39)		probably null	Het
Fbxw11	C	T	11: 32,592,820 (GRCm39)		probably benign	Het
Flnc	C	A	6: 29,443,447 (GRCm39)	P543T	probably damaging	Het
Grid1	T	C	14: 34,748,737 (GRCm39)	S186P	probably damaging	Het
Hcfc2	C	T	10: 82,559,534 (GRCm39)	T382M	probably damaging	Het
Hdac9	G	T	12: 34,487,246 (GRCm39)	L73I	probably damaging	Het
Hnrnpa2b1	A	T	6: 51,441,163 (GRCm39)	D302E	probably damaging	Het
Ifi204	C	T	1: 173,576,825 (GRCm39)	C592Y	probably damaging	Het
Jph1	T	A	1: 17,067,729 (GRCm39)	I653F	probably damaging	Het
Kcnj3	A	G	2: 55,484,918 (GRCm39)	K339E	probably benign	Het
Kcp	G	A	6: 29,493,196 (GRCm39)	T838I	probably benign	Het
Krtap26-1	A	T	16: 88,444,108 (GRCm39)	V171E	possibly damaging	Het
Madd	A	G	2: 90,990,673 (GRCm39)	L1134S	probably damaging	Het
Mafk	T	C	5: 139,786,248 (GRCm39)	S149P	probably damaging	Het
Man1c1	T	C	4: 134,430,500 (GRCm39)	D94G	probably benign	Het
Me2	T	A	18: 73,934,930 (GRCm39)	M38L	probably benign	Het
Muc2	A	C	7: 141,306,082 (GRCm39)	D257A	probably damaging	Het
Myh11	T	C	16: 14,018,566 (GRCm39)	K1927E	probably damaging	Het
Naaladl1	C	T	19: 6,158,920 (GRCm39)	P324S	probably damaging	Het
Ndufa10	T	C	1: 92,379,824 (GRCm39)	E303G	probably benign	Het
Nedd1	C	T	10: 92,555,444 (GRCm39)	V14I	probably benign	Het
Nwd1	T	G	8: 73,393,958 (GRCm39)	V407G	probably damaging	Het
Or2h15	A	C	17: 38,441,748 (GRCm39)	C112G	probably damaging	Het
Or4b1d	T	A	2: 89,968,593 (GRCm39)	K297*	probably null	Het
Or4k15c	T	C	14: 50,321,476 (GRCm39)	I221V	probably benign	Het
Or5w13	T	A	2: 87,524,104 (GRCm39)	T41S	probably benign	Het
Or7g29	A	G	9: 19,286,694 (GRCm39)	L161P	probably damaging	Het
Pgrmc2	T	C	3: 41,024,840 (GRCm39)	D144G	probably damaging	Het
Ppp3cb	T	C	14: 20,551,583 (GRCm39)	N516S	probably benign	Het
Pramel27	T	C	4: 143,579,530 (GRCm39)	S372P	probably damaging	Het
Prelp	A	G	1: 133,842,485 (GRCm39)	M220T	probably damaging	Het
Prss36	A	G	7: 127,534,787 (GRCm39)	W465R	probably damaging	Het
Pth2r	C	A	1: 65,375,920 (GRCm39)	F59L	probably benign	Het
Rab20	C	T	8: 11,504,485 (GRCm39)	G72R	probably damaging	Het
Rab4a	G	T	8: 124,555,769 (GRCm39)	G49W	probably damaging	Het
Rad9a	G	A	19: 4,250,560 (GRCm39)	R85C	probably damaging	Het
Rhox2c	A	C	X: 36,635,351 (GRCm39)	Q4H	probably benign	Het
Rock1	A	T	18: 10,136,152 (GRCm39)	Y178*	probably null	Het
Scaf8	C	A	17: 3,247,679 (GRCm39)	L1001I	probably damaging	Het
Sema3b	G	A	9: 107,482,201 (GRCm39)	P26S	probably benign	Het
Slc23a1	A	G	18: 35,752,633 (GRCm39)	L548P	probably damaging	Het
Sncaip	A	C	18: 53,039,629 (GRCm39)	T548P	probably benign	Het
Stpg2	C	T	3: 139,023,177 (GRCm39)	P398S	possibly damaging	Het
Stpg3	A	C	2: 25,103,309 (GRCm39)	V260G	probably damaging	Het
Tbc1d9	T	A	8: 83,960,875 (GRCm39)	F242I	probably damaging	Het
Tnks1bp1	G	A	2: 84,902,066 (GRCm39)	R992Q	probably damaging	Het
Tom1l1	T	G	11: 90,537,675 (GRCm39)	H394P	possibly damaging	Het
Topors	T	G	4: 40,261,442 (GRCm39)	N614T	possibly damaging	Het
Trank1	A	T	9: 111,221,129 (GRCm39)	Q2622L	probably benign	Het
Trub2	A	G	2: 29,668,858 (GRCm39)	S186P	probably damaging	Het
Unc13c	T	A	9: 73,479,636 (GRCm39)	H1756L	probably benign	Het
Vmn1r9	A	T	6: 57,048,314 (GRCm39)	I130F	probably benign	Het
Wdr72	A	T	9: 74,086,837 (GRCm39)	I602F	probably damaging	Het
Zfand3	T	A	17: 30,354,362 (GRCm39)	F60I	possibly damaging	Het
Zfp946	G	A	17: 22,674,692 (GRCm39)	G482E	probably benign	Het

Other mutations in Lck

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01824:Lck	APN	4	129,451,939 (GRCm39)	missense	probably benign	0.00
IGL02666:Lck	APN	4	129,450,212 (GRCm39)	missense	probably damaging	0.98
iconoclast	UTSW	4	129,449,397 (GRCm39)	missense	probably damaging	1.00
lockdown	UTSW	4	129,451,920 (GRCm39)	missense	probably damaging	1.00
stromberg	UTSW	4	129,449,433 (GRCm39)	missense	probably damaging	1.00
studentenkarzer	UTSW	4	129,450,098 (GRCm39)	missense	probably damaging	1.00
swan	UTSW	4	129,449,433 (GRCm39)	missense	probably damaging	1.00
R0091:Lck	UTSW	4	129,449,474 (GRCm39)	missense	possibly damaging	0.88
R0480:Lck	UTSW	4	129,449,433 (GRCm39)	missense	probably damaging	1.00
R1013:Lck	UTSW	4	129,451,920 (GRCm39)	missense	probably damaging	1.00
R1510:Lck	UTSW	4	129,449,461 (GRCm39)	missense	possibly damaging	0.92
R1569:Lck	UTSW	4	129,449,449 (GRCm39)	missense	probably damaging	0.98
R1845:Lck	UTSW	4	129,451,879 (GRCm39)	missense	probably benign	0.00
R2001:Lck	UTSW	4	129,442,730 (GRCm39)	missense	probably benign	0.00
R2141:Lck	UTSW	4	129,442,713 (GRCm39)	missense	probably damaging	1.00
R4737:Lck	UTSW	4	129,449,777 (GRCm39)	missense	possibly damaging	0.93
R5706:Lck	UTSW	4	129,445,431 (GRCm39)	critical splice acceptor site	probably null
R5712:Lck	UTSW	4	129,450,103 (GRCm39)	missense	probably benign
R7023:Lck	UTSW	4	129,442,658 (GRCm39)	missense	possibly damaging	0.89
R7411:Lck	UTSW	4	129,445,763 (GRCm39)	missense	probably benign	0.02
R9044:Lck	UTSW	4	129,450,098 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGGCTGGGGCTGGTACT -3'
(R):5'- CCTGACTGAGATCCCATACTTAAA -3'

Sequencing Primer
(F):5'- CTGGTACTGGCCCTCTGTG -3'
(R):5'- CCAGCTTGATTTACAGAGTTCCAGG -3'

Posted On

2015-10-21