Incidental Mutation 'R5706:Lck'
| ID |
451967 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lck
|
| Ensembl Gene |
ENSMUSG00000000409 |
| Gene Name |
lymphocyte protein tyrosine kinase |
| Synonyms |
Hck-3, p56 |
| MMRRC Submission |
043331-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5706 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
129442142-129467415 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
T to C
at 129445431 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125777
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067240]
[ENSMUST00000102596]
[ENSMUST00000167288]
[ENSMUST00000167288]
|
| AlphaFold |
P06240 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000067240
|
| SMART Domains |
Protein: ENSMUSP00000066209
Gene: ENSMUSG00000000409
| 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 null
Transcript: ENSMUST00000102596
|
| SMART Domains |
Protein: ENSMUSP00000099656
Gene: ENSMUSG00000000409
| 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 null
Transcript: ENSMUST00000167288
|
| SMART Domains |
Protein: ENSMUSP00000125777
Gene: ENSMUSG00000000409
| 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 |
probably null
Transcript: ENSMUST00000167288
|
| SMART Domains |
Protein: ENSMUSP00000125777
Gene: ENSMUSG00000000409
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.1%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
T |
A |
3: 121,847,910 (GRCm39) |
M77K |
probably benign |
Het |
| Amy1 |
A |
G |
3: 113,349,769 (GRCm39) |
V467A |
probably damaging |
Het |
| Atf4 |
T |
C |
15: 80,140,531 (GRCm39) |
V11A |
possibly damaging |
Het |
| B4galt1 |
T |
C |
4: 40,807,268 (GRCm39) |
N373D |
probably damaging |
Het |
| Bpifa3 |
A |
G |
2: 153,977,498 (GRCm39) |
K112R |
probably damaging |
Het |
| Chd2 |
T |
A |
7: 73,141,105 (GRCm39) |
Y596F |
possibly damaging |
Het |
| Clspn |
T |
C |
4: 126,472,211 (GRCm39) |
S962P |
probably damaging |
Het |
| Cyp2c68 |
T |
C |
19: 39,722,762 (GRCm39) |
D262G |
possibly damaging |
Het |
| Dcaf11 |
T |
C |
14: 55,803,152 (GRCm39) |
I282T |
probably damaging |
Het |
| Dmxl1 |
T |
C |
18: 50,090,462 (GRCm39) |
|
probably null |
Het |
| Dnah11 |
T |
G |
12: 117,987,670 (GRCm39) |
K2411Q |
probably damaging |
Het |
| Elf3 |
A |
G |
1: 135,184,220 (GRCm39) |
V196A |
probably benign |
Het |
| Fhad1 |
T |
G |
4: 141,681,427 (GRCm39) |
T538P |
probably damaging |
Het |
| Fkbp10 |
A |
G |
11: 100,311,849 (GRCm39) |
D174G |
probably damaging |
Het |
| Gas6 |
A |
G |
8: 13,527,098 (GRCm39) |
S217P |
probably damaging |
Het |
| Heatr5b |
C |
T |
17: 79,074,304 (GRCm39) |
|
probably null |
Het |
| Iqgap3 |
A |
G |
3: 88,023,215 (GRCm39) |
E502G |
probably benign |
Het |
| Klc1 |
T |
C |
12: 111,762,061 (GRCm39) |
V577A |
possibly damaging |
Het |
| Mc3r |
C |
A |
2: 172,091,610 (GRCm39) |
Y277* |
probably null |
Het |
| Mlxipl |
T |
C |
5: 135,162,458 (GRCm39) |
V640A |
probably benign |
Het |
| Mrc2 |
A |
T |
11: 105,223,169 (GRCm39) |
N471Y |
probably damaging |
Het |
| Ncan |
T |
A |
8: 70,554,667 (GRCm39) |
H1050L |
probably damaging |
Het |
| Nrl |
C |
A |
14: 55,759,889 (GRCm39) |
V13F |
probably damaging |
Het |
| Obscn |
T |
A |
11: 58,967,082 (GRCm39) |
Y546F |
probably damaging |
Het |
| Or52u1 |
T |
G |
7: 104,237,097 (GRCm39) |
S46A |
probably benign |
Het |
| Or6c209 |
A |
G |
10: 129,483,960 (GRCm39) |
|
probably null |
Het |
| Or6d14 |
A |
G |
6: 116,534,074 (GRCm39) |
I229M |
probably damaging |
Het |
| Pde3b |
G |
A |
7: 114,120,927 (GRCm39) |
G684D |
probably damaging |
Het |
| Prkaa1 |
C |
T |
15: 5,203,823 (GRCm39) |
T244I |
probably benign |
Het |
| Scfd2 |
A |
T |
5: 74,367,059 (GRCm39) |
|
probably null |
Het |
| Slc22a30 |
G |
A |
19: 8,321,757 (GRCm39) |
Q436* |
probably null |
Het |
| Smg1 |
A |
T |
7: 117,744,813 (GRCm39) |
V3113D |
possibly damaging |
Het |
| Sorbs1 |
T |
C |
19: 40,365,325 (GRCm39) |
T153A |
probably benign |
Het |
| Spag16 |
A |
G |
1: 69,909,448 (GRCm39) |
T182A |
probably benign |
Het |
| Spopfm1 |
T |
A |
3: 94,173,959 (GRCm39) |
H322Q |
possibly damaging |
Het |
| Svs5 |
T |
C |
2: 164,079,589 (GRCm39) |
K106R |
possibly damaging |
Het |
| Tenm1 |
A |
G |
X: 42,163,572 (GRCm39) |
V107A |
possibly damaging |
Het |
| Topaz1 |
A |
T |
9: 122,628,550 (GRCm39) |
I1546F |
possibly damaging |
Het |
| Tubgcp2 |
C |
A |
7: 139,612,138 (GRCm39) |
E78* |
probably null |
Het |
| Vars1 |
A |
G |
17: 35,224,457 (GRCm39) |
|
probably null |
Het |
| Vmn2r109 |
A |
T |
17: 20,774,567 (GRCm39) |
W263R |
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 |
|
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 |
|
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'- GTTTCAGAGTCTGAGCCTGG -3'
(R):5'- CCAACATCCTGGTGTCTGAC -3'
Sequencing Primer
(F):5'- AAGGTATGGCTTGGCTCCC -3'
(R):5'- CACGCTGAGCTGCAAGATTG -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation