Incidental Mutation 'R1510:Lck'
ID 167837
Institutional Source Beutler Lab
Gene Symbol Lck
Ensembl Gene ENSMUSG00000000409
Gene Name lymphocyte protein tyrosine kinase
Synonyms Hck-3, p56
MMRRC Submission 039557-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1510 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 129442142-129467415 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 129449461 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 290 (S290G)
Ref Sequence ENSEMBL: ENSMUSP00000125777 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067240] [ENSMUST00000102596] [ENSMUST00000134336] [ENSMUST00000167288]
AlphaFold P06240
Predicted Effect possibly damaging
Transcript: ENSMUST00000067240
AA Change: S279G

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000066209
Gene: ENSMUSG00000000409
AA Change: S279G

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: S279G

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000099656
Gene: ENSMUSG00000000409
AA Change: S279G

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
SMART Domains Protein: ENSMUSP00000119263
Gene: ENSMUSG00000000409

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 possibly damaging
Transcript: ENSMUST00000167288
AA Change: S290G

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000125777
Gene: ENSMUSG00000000409
AA Change: S290G

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
Meta Mutation Damage Score 0.5186 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.8%
Validation Efficiency 100% (79/79)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd2 A G 15: 91,073,181 (GRCm39) L326S probably damaging Het
Adam18 T A 8: 25,115,847 (GRCm39) T616S probably benign Het
Adam22 T C 5: 8,202,408 (GRCm39) K215E probably benign Het
Ahi1 T G 10: 20,835,699 (GRCm39) S11A probably benign Het
Asb18 T C 1: 89,923,976 (GRCm39) M96V possibly damaging Het
Baz2b T C 2: 59,752,553 (GRCm39) D1149G probably damaging Het
C1qtnf3 A G 15: 10,975,722 (GRCm39) E176G probably benign Het
Cd151 T A 7: 141,050,280 (GRCm39) S172T probably benign Het
Cdh2 G T 18: 16,781,651 (GRCm39) L90I probably benign Het
Cdkl3 T C 11: 51,924,341 (GRCm39) V55A possibly damaging Het
Cfap90 T A 13: 68,745,596 (GRCm39) M1K probably null Het
Chst8 T A 7: 34,374,693 (GRCm39) H382L probably benign Het
Cyb5r4 T C 9: 86,948,696 (GRCm39) probably benign Het
Cyp2j13 T C 4: 95,950,209 (GRCm39) D264G possibly damaging Het
Daam1 A G 12: 72,024,500 (GRCm39) M814V probably damaging Het
Ddx19b A G 8: 111,742,285 (GRCm39) I150T probably damaging Het
Dync1li1 T G 9: 114,518,278 (GRCm39) S50A possibly damaging Het
Fat3 A T 9: 15,871,351 (GRCm39) L3680Q probably damaging Het
Fermt1 C T 2: 132,766,942 (GRCm39) E342K probably benign Het
Gm21286 T G 4: 60,794,931 (GRCm39) noncoding transcript Het
Il6 T C 5: 30,223,060 (GRCm39) Y126H probably damaging Het
Inhba G T 13: 16,201,607 (GRCm39) V390L probably damaging Het
Ino80 C T 2: 119,280,530 (GRCm39) R278H probably damaging Het
Jade3 T G X: 20,384,057 (GRCm39) N799K probably benign Het
Kcnn1 G A 8: 71,316,714 (GRCm39) probably benign Het
Klhl6 T C 16: 19,765,848 (GRCm39) T585A probably damaging Het
Kmt2d T A 15: 98,754,258 (GRCm39) probably benign Het
Krt17 C T 11: 100,148,365 (GRCm39) E359K possibly damaging Het
Lce1b T G 3: 92,563,283 (GRCm39) R83S unknown Het
Ltbp3 T C 19: 5,798,915 (GRCm39) S544P probably benign Het
Lypd6b T A 2: 49,824,831 (GRCm39) S4R probably damaging Het
Macf1 T C 4: 123,328,555 (GRCm39) D4724G probably null Het
Mcoln2 A G 3: 145,882,365 (GRCm39) T255A probably benign Het
Mcph1 T A 8: 18,682,703 (GRCm39) probably null Het
Mki67 C A 7: 135,297,900 (GRCm39) R2378L probably benign Het
Mxd1 A G 6: 86,630,137 (GRCm39) V27A possibly damaging Het
Myo5a T C 9: 75,078,833 (GRCm39) Y864H probably benign Het
Ndel1 A T 11: 68,713,482 (GRCm39) N318K possibly damaging Het
Oasl1 A G 5: 115,066,167 (GRCm39) Q95R probably benign Het
Or5ac16 A T 16: 59,022,546 (GRCm39) M81K probably damaging Het
Or5j3 T C 2: 86,128,715 (GRCm39) L185P probably damaging Het
Or5p57 T C 7: 107,665,735 (GRCm39) Y60C probably damaging Het
Or6b2b A T 1: 92,419,339 (GRCm39) I46N probably damaging Het
Parp10 T A 15: 76,125,617 (GRCm39) Q487L probably damaging Het
Pcdh10 C T 3: 45,333,838 (GRCm39) R51C probably damaging Het
Pdpr A T 8: 111,851,107 (GRCm39) probably benign Het
Pfpl A T 19: 12,407,060 (GRCm39) D437V probably benign Het
Pik3c2a G A 7: 115,987,280 (GRCm39) T547I probably benign Het
Pkdrej A C 15: 85,700,963 (GRCm39) S1658A possibly damaging Het
Pkn3 T C 2: 29,969,776 (GRCm39) probably null Het
Plekhh2 A G 17: 84,867,004 (GRCm39) probably null Het
Plxdc1 A T 11: 97,823,150 (GRCm39) C357S probably damaging Het
Pnp A G 14: 51,188,042 (GRCm39) T132A possibly damaging Het
Prorp A T 12: 55,350,997 (GRCm39) Q102L probably benign Het
Rcan2 A G 17: 44,147,315 (GRCm39) D51G probably damaging Het
Rcn1 T C 2: 105,219,434 (GRCm39) N253S probably damaging Het
Rreb1 T A 13: 38,115,860 (GRCm39) I1073N probably benign Het
Scaf4 G T 16: 90,042,282 (GRCm39) D686E unknown Het
Sfxn5 A C 6: 85,213,907 (GRCm39) M221R probably damaging Het
Slc38a1 A G 15: 96,507,741 (GRCm39) F104L probably damaging Het
Slc8a1 A T 17: 81,955,547 (GRCm39) V497D probably damaging Het
Spryd3 C A 15: 102,027,396 (GRCm39) G290C probably damaging Het
Stc2 A T 11: 31,315,418 (GRCm39) Y140* probably null Het
Stfa2 A T 16: 36,228,673 (GRCm39) I8K possibly damaging Het
Sult3a2 A T 10: 33,658,026 (GRCm39) M29K probably benign Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Triobp G A 15: 78,887,967 (GRCm39) R1908Q probably damaging Het
Trpm2 T A 10: 77,802,828 (GRCm39) R7* probably null Het
Ttn T C 2: 76,782,501 (GRCm39) I912V probably benign Het
Tusc2 T A 9: 107,442,080 (GRCm39) V93E probably damaging Het
Uhrf2 T A 19: 30,016,461 (GRCm39) probably benign Het
Umodl1 G A 17: 31,178,203 (GRCm39) V60M probably damaging Het
Ush2a A T 1: 188,380,501 (GRCm39) D2270V probably damaging Het
Vmn2r80 A G 10: 79,005,553 (GRCm39) T397A possibly damaging Het
Wbp2 A G 11: 115,977,708 (GRCm39) V15A probably benign Het
Zfp182 T A X: 20,896,446 (GRCm39) R617W probably damaging Het
Zfp82 C A 7: 29,756,047 (GRCm39) R345L probably damaging Het
Zfp85 T C 13: 67,903,084 (GRCm39) probably benign Het
Other mutations in Lck
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-04-13