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|Institutional Source||Beutler Lab|
|Gene Name||Janus kinase 1|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R4172 (G1)|
|Chromosomal Location||101152367-101265282 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 101159132 bp|
|Amino Acid Change||Valine to Leucine at position 812 (V812L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000099842 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000102781]|
|Predicted Effect||probably benign
AA Change: V812L
PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
AA Change: V812L
|Predicted Effect||noncoding transcript
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a membrane protein that is a member of a class of protein-tyrosine kinases (PTK) characterized by the presence of a second phosphotransferase-related domain immediately N-terminal to the PTK domain. The encoded kinase phosphorylates STAT proteins (signal transducers and activators of transcription) and plays a key role in interferon-alpha/beta and interferon-gamma signal transduction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
PHENOTYPE: Mice homozygous for disruption of this gene die within the first 24 hours after birth. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Jak1||
(F):5'- TAGCCTCCAAGCAGTAACCAGG -3'
(R):5'- ACGACTGCTTTCCTCATACTGG -3'
(F):5'- GTAACCAGGACTGCCACCCTC -3'
(R):5'- TTCCTCATACTGGAAAGAGGC -3'