Mutagenetix > Incidental Mutation

Incidental Mutation 'R2141:Lck'

236232

Institutional Source

Beutler Lab

Gene Symbol

Lck

Ensembl Gene

ENSMUSG00000000409

Gene Name

lymphocyte protein tyrosine kinase

Synonyms

Hck-3, p56

MMRRC Submission

040144-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2141 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

129548344-129573641 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 129548920 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 481 (Y481H)

Ref Sequence

ENSEMBL: ENSMUSP00000125777 (fasta)

Gene Model

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

AlphaFold

P06240

Predicted Effect

probably damaging
Transcript: ENSMUST00000067240
AA Change: Y470H

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

SMART Domains

Protein: ENSMUSP00000066209
Gene: ENSMUSG00000000409
AA Change: Y470H

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 damaging
Transcript: ENSMUST00000102596
AA Change: Y470H

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

SMART Domains

Protein: ENSMUSP00000099656
Gene: ENSMUSG00000000409
AA Change: Y470H

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 damaging
Transcript: ENSMUST00000167288
AA Change: Y481H

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

SMART Domains

Protein: ENSMUSP00000125777
Gene: ENSMUSG00000000409
AA Change: Y481H

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

Meta Mutation Damage Score

0.5211

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

97% (107/110)

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: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810065E05Rik	G	T	11: 58,423,926	C150F	probably damaging	Het
4932431P20Rik	T	C	7: 29,531,510		noncoding transcript	Het
Aagab	T	A	9: 63,616,675		probably null	Het
Abca15	A	C	7: 120,407,474	T1654P	probably damaging	Het
Abca17	T	A	17: 24,334,266	Y157F	probably benign	Het
Aftph	A	T	11: 20,698,318	L813*	probably null	Het
Agap1	T	C	1: 89,837,755	I615T	probably damaging	Het
Ak3	T	G	19: 29,022,847	Q221H	probably benign	Het
Aldoa	A	G	7: 126,797,642		probably null	Het
Anxa8	T	C	14: 34,091,916		probably null	Het
Baz2a	A	G	10: 128,123,612	D1329G	probably damaging	Het
Capn9	G	A	8: 124,605,711	G430R	possibly damaging	Het
Cd55	C	T	1: 130,449,423	V333I	probably benign	Het
Cep70	A	G	9: 99,296,385	Y512C	probably damaging	Het
Cfhr2	T	G	1: 139,831,155	R52S	probably benign	Het
Clcn6	A	G	4: 148,024,137	F145S	possibly damaging	Het
Cnksr1	A	G	4: 134,229,628	Y488H	probably damaging	Het
Diablo	A	G	5: 123,523,361	V24A	probably benign	Het
Dnah7b	T	A	1: 46,268,670	M3048K	probably damaging	Het
Dsel	T	C	1: 111,859,457	N1116S	probably benign	Het
Efnb1	A	G	X: 99,147,517	Y343C	probably damaging	Het
Esco1	A	G	18: 10,574,873		probably null	Het
Fam173b	T	C	15: 31,609,572	F146L	probably benign	Het
Fam26f	G	T	10: 34,127,695	A72E	probably damaging	Het
Fancd2	A	G	6: 113,549,321	N335S	probably benign	Het
Flnc	A	G	6: 29,448,675	Y1304C	probably damaging	Het
Fubp3	A	G	2: 31,600,557		probably benign	Het
Gemin4	G	C	11: 76,211,050	P962A	probably damaging	Het
Gjc3	A	C	5: 137,957,546	L159R	probably damaging	Het
Gli1	A	G	10: 127,336,727	L182P	probably damaging	Het
Gm21957	G	T	7: 125,219,453		noncoding transcript	Het
Gm28040	AGTG	AGTGGCACCTTTGGTG	1: 133,327,321		probably benign	Het
Gm4907	T	A	X: 23,907,310	V350E	probably benign	Het
Gm5885	A	G	6: 133,529,275		noncoding transcript	Het
Gm8989	T	A	7: 106,329,956	T245S	probably damaging	Het
Gon4l	A	T	3: 88,887,595	T402S	possibly damaging	Het
Gprasp1	G	A	X: 135,802,042	E995K	possibly damaging	Het
Helb	A	T	10: 120,106,021	M254K	possibly damaging	Het
Ift20	G	A	11: 78,540,034	E68K	probably damaging	Het
Igfn1	AGGG	AGG	1: 135,974,852		probably benign	Het
Impdh2	A	G	9: 108,565,347	E305G	possibly damaging	Het
Ints7	T	A	1: 191,604,860	C351S	possibly damaging	Het
Ipo9	ATCCTCCTCCTCCTCCTC	ATCCTCCTCCTCCTCCTCCTC	1: 135,386,268		probably benign	Het
Ipo9	A	G	1: 135,402,250	V484A	probably benign	Het
Kcnq3	T	C	15: 65,995,851	M648V	probably benign	Het
Kctd16	A	G	18: 40,259,178	E273G	possibly damaging	Het
Kif18a	T	A	2: 109,333,503	N732K	probably benign	Het
Kif21b	C	T	1: 136,152,264	R513W	probably damaging	Het
Klhl36	T	C	8: 119,876,772	C589R	possibly damaging	Het
Lmtk2	A	G	5: 144,147,615	Y156C	probably damaging	Het
Mical3	A	T	6: 121,031,134		probably null	Het
Mki67	A	G	7: 135,695,592	I2571T	possibly damaging	Het
Mx2	G	A	16: 97,538,703	E20K	probably benign	Het
Myo10	A	G	15: 25,714,108	E87G	probably benign	Het
Myo18b	T	C	5: 112,874,026	K500R	probably benign	Het
N4bp2l2	A	T	5: 150,647,536	I458N	probably damaging	Het
Nat10	T	C	2: 103,731,303		probably null	Het
Nfasc	G	A	1: 132,596,645	P932L	probably damaging	Het
Nipa1	C	A	7: 55,997,511		probably null	Het
Nkpd1	A	G	7: 19,524,237	Q647R	probably damaging	Het
Nlrc4	T	A	17: 74,447,951		probably benign	Het
Nmbr	C	A	10: 14,770,442	Y353*	probably null	Het
Nos1ap	T	A	1: 170,329,166	D241V	probably damaging	Het
Obsl1	G	A	1: 75,486,756	T1764M	probably benign	Het
Olfr1025-ps1	A	G	2: 85,918,827	I301V	probably null	Het
Olfr1173	A	G	2: 88,275,010	V13A	probably benign	Het
Olfr1289	A	T	2: 111,483,630	T95S	probably benign	Het
Olfr770	A	G	10: 129,133,006	I254T	probably benign	Het
Optc	A	T	1: 133,903,796		probably null	Het
Pank1	G	A	19: 34,878,980	R33C	possibly damaging	Het
Pcmtd1	C	T	1: 7,169,565	R77C	probably damaging	Het
Phkg2	G	A	7: 127,582,214		probably null	Het
Plcb4	G	A	2: 135,976,099	V762M	probably damaging	Het
Pramel7	T	A	2: 87,489,977	H324L	probably damaging	Het
Prelp	C	T	1: 133,915,131	R92K	probably benign	Het
Rai1	C	A	11: 60,189,467	S1452R	possibly damaging	Het
Ren1	C	G	1: 133,350,778		probably null	Het
Rev3l	T	C	10: 39,848,049	V785A	probably benign	Het
Rufy2	G	T	10: 62,990,994	R104L	probably damaging	Het
Senp6	T	A	9: 80,123,820	N8K	probably damaging	Het
Sept4	A	T	11: 87,583,436	Q60L	probably benign	Het
Sipa1l2	G	A	8: 125,491,491	P369L	probably benign	Het
Slc43a1	T	C	2: 84,840,961	L37P	probably damaging	Het
Slf1	T	A	13: 77,049,219		probably null	Het
Ssr2	T	A	3: 88,576,642		probably benign	Het
Syt2	ACTCTCTCT	ACTCTCTCTCT	1: 134,746,741		probably benign	Het
Tas2r115	T	C	6: 132,737,358	K210R	probably benign	Het
Tbx18	A	G	9: 87,715,653	V276A	probably damaging	Het
Tie1	G	A	4: 118,472,811	R1072*	probably null	Het
Tm2d2	C	A	8: 25,022,658	T174K	probably damaging	Het
Tmem98	A	G	11: 80,814,332	D82G	possibly damaging	Het
Tmub2	A	G	11: 102,287,553	E94G	possibly damaging	Het
Tnnt2	TG	TGG	1: 135,846,761		probably benign	Het
Tonsl	A	T	15: 76,632,661	I923N	probably damaging	Het
Trove2	T	C	1: 143,760,034	D458G	probably benign	Het
Ttc21a	G	A	9: 119,964,295	V977M	probably damaging	Het
Ube2ql1	T	C	13: 69,738,664	D226G	probably damaging	Het
Ubr4	C	T	4: 139,477,207	T4810M	probably damaging	Het
Zadh2	T	C	18: 84,094,543	Y115H	probably benign	Het
Zfp408	A	G	2: 91,647,849		probably benign	Het
Zfp473	T	C	7: 44,733,077	T610A	possibly damaging	Het
Zfp804b	A	G	5: 6,772,583	V160A	probably benign	Het
Zfp960	A	G	17: 17,087,884	T287A	probably benign	Het

Other mutations in Lck

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01824:Lck	APN	4	129558146	missense	probably benign	0.00
IGL02666:Lck	APN	4	129556419	missense	probably damaging	0.98
iconoclast	UTSW	4	129555604	missense	probably damaging	1.00
lockdown	UTSW	4	129558127	missense	probably damaging	1.00
stromberg	UTSW	4	129555640	missense	probably damaging	1.00
studentenkarzer	UTSW	4	129556305	missense	probably damaging	1.00
swan	UTSW	4	129555640	missense	probably damaging	1.00
R0091:Lck	UTSW	4	129555681	missense	possibly damaging	0.88
R0480:Lck	UTSW	4	129555640	missense	probably damaging	1.00
R1013:Lck	UTSW	4	129558127	missense	probably damaging	1.00
R1510:Lck	UTSW	4	129555668	missense	possibly damaging	0.92
R1569:Lck	UTSW	4	129555656	missense	probably damaging	0.98
R1845:Lck	UTSW	4	129558086	missense	probably benign	0.00
R2001:Lck	UTSW	4	129548937	missense	probably benign	0.00
R4694:Lck	UTSW	4	129548972	missense	possibly damaging	0.66
R4737:Lck	UTSW	4	129555984	missense	possibly damaging	0.93
R5706:Lck	UTSW	4	129551638	critical splice acceptor site	probably null
R5712:Lck	UTSW	4	129556310	missense	probably benign
R7023:Lck	UTSW	4	129548865	missense	possibly damaging	0.89
R7411:Lck	UTSW	4	129551970	missense	probably benign	0.02
R9044:Lck	UTSW	4	129556305	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTAGCCAGGGCACAGTGGT -3'
(R):5'- TGGATGGATGGATGGATAGATACAT -3'

Sequencing Primer
(F):5'- CACAGTGGTTGGGAGGATC -3'
(R):5'- AGTAGGAAAGAAAGAGAACTGGAGTC -3'

Posted On

2014-10-01