Incidental Mutation 'R7023:Lck'
ID 545750
Institutional Source Beutler Lab
Gene Symbol Lck
Ensembl Gene ENSMUSG00000000409
Gene Name lymphocyte protein tyrosine kinase
Synonyms Hck-3, p56
MMRRC Submission 045124-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7023 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 129442142-129467415 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 129442658 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 499 (D499G)
Ref Sequence ENSEMBL: ENSMUSP00000125777 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067240] [ENSMUST00000102596] [ENSMUST00000167288]
AlphaFold P06240
Predicted Effect possibly damaging
Transcript: ENSMUST00000067240
AA Change: D488G

PolyPhen 2 Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000066209
Gene: ENSMUSG00000000409
AA Change: D488G

DomainStartEndE-ValueType
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: D488G

PolyPhen 2 Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000099656
Gene: ENSMUSG00000000409
AA Change: D488G

DomainStartEndE-ValueType
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: ENSMUST00000167288
AA Change: D499G

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000125777
Gene: ENSMUSG00000000409
AA Change: D499G

DomainStartEndE-ValueType
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: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik A G 13: 119,610,443 (GRCm39) H372R probably benign Het
4933405O20Rik T C 7: 50,250,001 (GRCm39) I345T probably damaging Het
4933427D14Rik A G 11: 72,069,229 (GRCm39) probably null Het
6430548M08Rik T C 8: 120,872,096 (GRCm39) V8A probably damaging Het
Adam2 A T 14: 66,280,505 (GRCm39) D501E probably benign Het
Agbl3 T C 6: 34,791,704 (GRCm39) V602A probably benign Het
Akap12 T C 10: 4,306,895 (GRCm39) M1235T probably benign Het
Arid5a G A 1: 36,356,631 (GRCm39) probably benign Het
Asxl1 T A 2: 153,242,469 (GRCm39) D1006E probably benign Het
AY074887 T C 9: 54,858,149 (GRCm39) probably benign Het
Btbd9 T A 17: 30,746,546 (GRCm39) R93S probably benign Het
Cabp2 A T 19: 4,132,658 (GRCm39) probably null Het
Cacna1e T C 1: 154,601,439 (GRCm39) D76G probably null Het
Cd177 A G 7: 24,459,187 (GRCm39) I74T probably benign Het
Chchd1 G A 14: 20,753,310 (GRCm39) probably benign Het
Col28a1 T C 6: 8,083,763 (GRCm39) R565G possibly damaging Het
Cpvl T A 6: 53,944,797 (GRCm39) I80F probably benign Het
Csgalnact1 T C 8: 68,811,081 (GRCm39) T530A probably benign Het
Cybrd1 A G 2: 70,968,922 (GRCm39) D265G probably benign Het
Cyp2c69 A T 19: 39,865,986 (GRCm39) N202K probably benign Het
D1Pas1 A G 1: 186,700,205 (GRCm39) N45D probably damaging Het
Dclre1a A G 19: 56,528,638 (GRCm39) V839A probably damaging Het
Degs1 A T 1: 182,106,630 (GRCm39) Y210N probably damaging Het
Doc2g A G 19: 4,054,778 (GRCm39) S220G probably benign Het
Epb41l2 T A 10: 25,388,875 (GRCm39) L885Q probably damaging Het
Fabp1 A T 6: 71,180,069 (GRCm39) probably null Het
Fat2 G A 11: 55,201,328 (GRCm39) S582L probably benign Het
Fcgbpl1 T A 7: 27,839,463 (GRCm39) C425* probably null Het
Fras1 A G 5: 96,857,943 (GRCm39) N2079S probably benign Het
Gdf6 T C 4: 9,860,210 (GRCm39) Y431H probably damaging Het
Gfra1 A T 19: 58,442,764 (GRCm39) L6Q probably damaging Het
Gm45861 T G 8: 28,071,034 (GRCm39) S1305A unknown Het
Gse1 T C 8: 120,957,387 (GRCm39) probably benign Het
Kmt2e A G 5: 23,705,485 (GRCm39) H1303R possibly damaging Het
Lepr A T 4: 101,646,484 (GRCm39) Y805F probably damaging Het
Lin7a A T 10: 107,218,489 (GRCm39) Y11F possibly damaging Het
Lrrc43 A G 5: 123,641,826 (GRCm39) K559E probably damaging Het
Megf6 T C 4: 154,338,602 (GRCm39) L467P possibly damaging Het
Mprip G A 11: 59,628,215 (GRCm39) G221R probably damaging Het
Myo5c T C 9: 75,208,738 (GRCm39) V1683A probably damaging Het
Nbeal2 G A 9: 110,467,686 (GRCm39) R501W probably damaging Het
Ncf1 G T 5: 134,254,116 (GRCm39) A219E possibly damaging Het
Nckap1l T C 15: 103,384,493 (GRCm39) I616T probably benign Het
Nlrp2 A T 7: 5,331,228 (GRCm39) C389* probably null Het
Nrg3 T C 14: 38,098,333 (GRCm39) E507G probably damaging Het
Or4p19 A G 2: 88,242,759 (GRCm39) L81P probably damaging Het
P4ha2 A T 11: 54,022,072 (GRCm39) T532S probably benign Het
Pappa A T 4: 65,269,955 (GRCm39) H1623L probably benign Het
Paqr6 A G 3: 88,273,353 (GRCm39) Y115C probably damaging Het
Pcolce2 A T 9: 95,560,521 (GRCm39) Q190L probably benign Het
Poll A G 19: 45,547,277 (GRCm39) I65T probably benign Het
Prmt9 T C 8: 78,276,086 (GRCm39) probably benign Het
Prpf39 T C 12: 65,100,074 (GRCm39) V130A possibly damaging Het
Prpf6 A G 2: 181,262,433 (GRCm39) D144G probably damaging Het
Rgs6 T A 12: 83,138,878 (GRCm39) probably benign Het
Rimbp2 A G 5: 128,879,847 (GRCm39) probably null Het
Ripor2 A G 13: 24,855,829 (GRCm39) T90A probably benign Het
Rnf150 T C 8: 83,590,706 (GRCm39) F23S probably damaging Het
Rpp40 G A 13: 36,082,889 (GRCm39) R200W possibly damaging Het
Rtp3 G A 9: 110,815,714 (GRCm39) S217L probably benign Het
Sacs A C 14: 61,446,264 (GRCm39) K2770T probably benign Het
Scn10a A T 9: 119,442,610 (GRCm39) I1545N probably damaging Het
Scn2b G T 9: 45,037,438 (GRCm39) V162L probably damaging Het
Sema6d A G 2: 124,506,831 (GRCm39) T880A probably damaging Het
Slc36a4 A G 9: 15,630,929 (GRCm39) D16G probably benign Het
Slc4a8 T A 15: 100,689,524 (GRCm39) I378K probably benign Het
Smco2 T A 6: 146,760,354 (GRCm39) L70* probably null Het
Sptb C T 12: 76,671,862 (GRCm39) V364I probably damaging Het
Susd4 A G 1: 182,592,613 (GRCm39) H3R probably damaging Het
Tbc1d16 T C 11: 119,049,617 (GRCm39) Q293R probably damaging Het
Tnfsf9 T A 17: 57,414,317 (GRCm39) M248K possibly damaging Het
Toporsl A G 4: 52,611,211 (GRCm39) N368S possibly damaging Het
Trip11 T C 12: 101,852,126 (GRCm39) E361G probably benign Het
Trrap T A 5: 144,728,964 (GRCm39) M626K possibly damaging Het
Ttn A T 2: 76,773,218 (GRCm39) S2395T probably damaging Het
Ubqln3 T C 7: 103,790,630 (GRCm39) R487G probably damaging Het
Vdac1 A G 11: 52,265,193 (GRCm39) Y22C probably damaging Het
Vmn1r59 C T 7: 5,457,477 (GRCm39) M94I probably benign Het
Vmn2r10 G T 5: 109,149,894 (GRCm39) D383E probably damaging Het
Vmn2r115 T C 17: 23,578,785 (GRCm39) Y753H probably damaging Het
Vmn2r97 G T 17: 19,134,663 (GRCm39) C27F probably damaging Het
Wasf1 T A 10: 40,812,471 (GRCm39) V420E unknown Het
Zfp94 A T 7: 24,002,821 (GRCm39) L201Q probably damaging Het
Zgpat TGGAGGAGGAGGAGGAGGA TGGAGGAGGAGGAGGA 2: 181,007,811 (GRCm39) probably benign Het
Zmym4 C A 4: 126,762,593 (GRCm39) R1410L probably damaging 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
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
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'- ACAGGTTTCATGTACAGAGTCAGAG -3'
(R):5'- CAGTTTAGCATCAGCCTTGC -3'

Sequencing Primer
(F):5'- TCAGAGTCCATGTGTGCACAG -3'
(R):5'- AGCCTTGCTTTTGAGTTTCCAAAG -3'
Posted On 2019-05-13