|Institutional Source||Beutler Lab|
|Gene Name||zeta-chain (TCR) associated protein kinase|
|Synonyms||ZAP-70, TZK, Srk|
|Is this an essential gene?||Possibly non essential (E-score: 0.282)|
|Stock #||R5271 (G1)|
|Chromosomal Location||36761798-36782818 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 36781365 bp|
|Amino Acid Change||Valine to Aspartic acid at position 547 (V547D)|
|Ref Sequence||ENSEMBL: ENSMUSP00000027291 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000027291]|
|Predicted Effect||probably damaging
AA Change: V547D
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: V547D
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.356|
|Coding Region Coverage||
|Validation Efficiency||97% (65/67)|
FUNCTION: This gene encodes a member of the protein tyrosine kinase family. The encoded protein is essential for development of T lymphocytes and thymocytes, and functions in the initial step of T lymphocyte receptor-mediated signal transduction. A mutation in this gene causes chronic autoimmune arthritis, similar to rheumatoid arthritis in humans. Mice lacking this gene are deficient in alpha-beta T lymphocytes in the thymus. In humans, mutations in this gene cause selective T-cell defect, a severe combined immunodeficiency disease characterized by a selective absence of CD8-positive T lymphocytes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
PHENOTYPE: Mutant mice show T cell defects. Null mutants lack alpha-beta T cells in the thymus and have fewer T cells in dendritic and intestinal epithelium. Spontaneous and knock-in missense mutations affect T cell receptor signaling, one of the former resulting in severe chronic arthritis. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Zap70||
(F):5'- CAGAGTGCATCAACTTTCGGAAG -3'
(R):5'- CTAAGGGTAAAGGTAGCGCTGC -3'
(F):5'- AAGTTCTCCAGCCGCAGTGAC -3'
(R):5'- TAAAGGTAGCGCTGCCTGGG -3'
|Posted On||Jul 06, 2016|