Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01824:Lck'

154615

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lck

Ensembl Gene

ENSMUSG00000000409

Gene Name

lymphocyte protein tyrosine kinase

Synonyms

Hck-3, p56

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01824

Quality Score

Status

Chromosome

Chromosomal Location

129442142-129467415 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 129451939 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 14 (M14L)

Ref Sequence

ENSEMBL: ENSMUSP00000119263 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067240] [ENSMUST00000102596] [ENSMUST00000134336] [ENSMUST00000167288]

AlphaFold

P06240

Predicted Effect

probably benign
Transcript: ENSMUST00000067240
AA Change: M14L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000066209
Gene: ENSMUSG00000000409
AA Change: M14L

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

probably benign
Transcript: ENSMUST00000102596
AA Change: M14L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000099656
Gene: ENSMUSG00000000409
AA Change: M14L

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: ENSMUST00000123640

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127943

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132030

Predicted Effect

probably benign
Transcript: ENSMUST00000134336
AA Change: M14L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000119263
Gene: ENSMUSG00000000409
AA Change: M14L

Domain	Start	End	E-Value	Type
PDB:1Q69\|B	7	33	9e-12	PDB
SCOP:d1awj__	45	92	2e-8	SMART
PDB:1LCK\|A	53	92	3e-20	PDB
Blast:SH3	64	92	4e-13	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139957

Predicted Effect

probably benign
Transcript: ENSMUST00000167288
AA Change: M25L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000125777
Gene: ENSMUSG00000000409
AA Change: M25L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183371

Coding Region Coverage

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: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd17c	G	A	7: 83,800,497 (GRCm39)	R186C	probably benign	Het
Ankar	A	G	1: 72,690,886 (GRCm39)	V1196A	probably benign	Het
Asah1	A	T	8: 41,802,580 (GRCm39)		probably benign	Het
Chrm1	T	C	19: 8,656,494 (GRCm39)	W400R	probably damaging	Het
Cyp27a1	G	T	1: 74,775,040 (GRCm39)	E290*	probably null	Het
Dnah7a	T	C	1: 53,543,429 (GRCm39)	D2247G	probably benign	Het
Gins4	G	A	8: 23,724,784 (GRCm39)	Q57*	probably null	Het
Gli1	T	C	10: 127,172,396 (GRCm39)	D219G	probably benign	Het
Greb1	A	T	12: 16,761,717 (GRCm39)	C554*	probably null	Het
Gtf2ird2	T	C	5: 134,226,123 (GRCm39)		probably benign	Het
Ifna15	T	C	4: 88,476,020 (GRCm39)	R155G	probably benign	Het
Megf6	A	G	4: 154,336,691 (GRCm39)	D322G	probably damaging	Het
Or4b1b	T	A	2: 90,112,263 (GRCm39)	I219F	probably damaging	Het
Pcdh18	A	T	3: 49,709,223 (GRCm39)	D697E	probably damaging	Het
Pnp	C	T	14: 51,188,870 (GRCm39)	T221I	probably damaging	Het
Ppl	A	G	16: 4,905,753 (GRCm39)	I1514T	probably damaging	Het
Scnn1g	A	G	7: 121,365,516 (GRCm39)	M523V	probably benign	Het
Sema4c	A	G	1: 36,592,110 (GRCm39)	Y246H	possibly damaging	Het
Slco1a5	T	A	6: 142,198,763 (GRCm39)	I301F	probably benign	Het
Srebf1	A	G	11: 60,094,957 (GRCm39)	S446P	probably benign	Het
Sys1	T	G	2: 164,305,225 (GRCm39)	L56R	probably damaging	Het
Trpc7	G	T	13: 56,937,535 (GRCm39)	Y585*	probably null	Het
Vmn2r110	T	A	17: 20,794,929 (GRCm39)	Y580F	probably benign	Het
Zmym6	G	T	4: 127,002,499 (GRCm39)	V485F	probably damaging	Het

Other mutations in Lck

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R4694:Lck	UTSW	4	129,442,765 (GRCm39)	missense	possibly damaging	0.66
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

Posted On

2014-02-04