Incidental Mutation 'IGL02666:Lck'
ID302737
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lck
Ensembl Gene ENSMUSG00000000409
Gene Namelymphocyte protein tyrosine kinase
SynonymsHck-3, p56
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02666
Quality Score
Status
Chromosome4
Chromosomal Location129548344-129573641 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 129556419 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 178 (V178A)
Ref Sequence ENSEMBL: ENSMUSP00000125777 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067240] [ENSMUST00000102596] [ENSMUST00000134336] [ENSMUST00000167288]
Predicted Effect probably damaging
Transcript: ENSMUST00000067240
AA Change: V167A

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000066209
Gene: ENSMUSG00000000409
AA Change: V167A

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 probably damaging
Transcript: ENSMUST00000102596
AA Change: V167A

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000099656
Gene: ENSMUSG00000000409
AA Change: V167A

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 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

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000167288
AA Change: V178A

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000125777
Gene: ENSMUSG00000000409
AA Change: V178A

DomainStartEndE-ValueType
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9230109A22Rik T C 15: 25,138,858 noncoding transcript Het
Abca15 G A 7: 120,335,208 V136M probably damaging Het
Abhd3 A G 18: 10,645,148 I382T probably benign Het
Cux1 C A 5: 136,275,315 E1336* probably null Het
Cyb5r3 T C 15: 83,160,353 I155V probably damaging Het
Ddx24 T C 12: 103,424,055 T226A possibly damaging Het
Diexf G A 1: 193,107,596 Q752* probably null Het
Dld T C 12: 31,332,409 N465S probably null Het
Dnmbp A G 19: 43,854,127 probably benign Het
Dock9 T C 14: 121,580,699 H1580R probably benign Het
Drd3 C A 16: 43,816,956 probably benign Het
Gabrb2 G T 11: 42,529,495 probably null Het
Gbp9 T C 5: 105,094,275 probably null Het
Inhba A T 13: 16,027,079 I409F possibly damaging Het
Iqgap2 T C 13: 95,628,056 N1560S probably damaging Het
Itsn1 A G 16: 91,820,718 probably benign Het
Kat6b T C 14: 21,628,870 F434L probably damaging Het
Klra1 A G 6: 130,364,315 C232R probably damaging Het
Krt18 T A 15: 102,029,867 I175N probably damaging Het
Mroh4 C A 15: 74,609,775 G737V probably benign Het
Mug2 A C 6: 122,081,326 L1282F probably damaging Het
Myo9a A G 9: 59,924,904 N2572S probably benign Het
Nup88 G T 11: 70,943,869 probably benign Het
Nxph3 G T 11: 95,511,008 H193Q possibly damaging Het
Olfr1447 G T 19: 12,900,857 H308N probably benign Het
Orm2 A G 4: 63,365,733 T198A possibly damaging Het
Pom121 T C 5: 135,386,832 I397V unknown Het
Prex1 C A 2: 166,572,989 E1313D probably benign Het
Prkg2 T A 5: 98,997,519 probably benign Het
Prl2a1 A T 13: 27,806,327 K86N possibly damaging Het
Ptpro G A 6: 137,378,059 S188N probably damaging Het
Ptprz1 A T 6: 23,001,210 I1100F probably benign Het
Ryr1 C A 7: 29,019,763 M4406I unknown Het
Sdf4 T A 4: 156,008,824 Y204* probably null Het
Serinc1 A T 10: 57,523,993 probably null Het
Slc39a5 C T 10: 128,398,455 R193H probably damaging Het
Smad9 A G 3: 54,782,467 K36R probably damaging Het
Spam1 T A 6: 24,796,124 L25I possibly damaging Het
Stab2 A T 10: 86,850,902 S809R possibly damaging Het
Szt2 G A 4: 118,374,055 R35C probably damaging Het
Tcaf2 C A 6: 42,629,124 probably benign Het
Tfap2d A C 1: 19,104,755 D144A probably benign Het
Tmprss11d A T 5: 86,331,193 V117D probably damaging Het
Tnxb A G 17: 34,684,939 D1141G probably benign Het
Traf6 A T 2: 101,697,167 T421S possibly damaging Het
Txndc16 G A 14: 45,211,150 probably benign Het
Vmn1r73 C A 7: 11,756,938 P228T probably damaging Het
Vmn2r4 A G 3: 64,389,012 I784T probably benign Het
Zfp420 A G 7: 29,874,370 D5G probably benign Het
Other mutations in Lck
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01824:Lck APN 4 129558146 missense probably benign 0.00
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
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
R2141:Lck UTSW 4 129548920 missense probably damaging 1.00
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
Posted On2015-04-16