|Institutional Source||Beutler Lab|
|Gene Name||jun proto-oncogene|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R8170 (G1)|
|Chromosomal Location||95049034-95052222 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 95050322 bp|
|Amino Acid Change||Asparagine to Isoleucine at position 317 (N317I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000102711 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000107094]|
|Predicted Effect||probably damaging
AA Change: N317I
PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
AA Change: N317I
|Coding Region Coverage||
|Validation Efficiency||100% (76/76)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is the putative transforming gene of avian sarcoma virus 17. It encodes a protein which is highly similar to the viral protein, and which interacts directly with specific target DNA sequences to regulate gene expression. This gene is intronless and is mapped to 1p32-p31, a chromosomal region involved in both translocations and deletions in human malignancies. [provided by RefSeq, Jul 2008]
PHENOTYPE: Null homozygotes die at midgestation with impaired hepatogenesis, altered fetal liver erythropoiesis and edema. A mutant replacing two serines by alanines is viable, fertile, small-sized and resistant to kainate-induced seizures and neuronal apoptosis. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Jun||
(F):5'- AGTCCATCTTGTGTACCCTTGG -3'
(R):5'- TCCCCTATCGACATGGAGTCTC -3'
(F):5'- TGGCTTCAGTACTCGGACAC -3'
(R):5'- CCTATCGACATGGAGTCTCAGGAG -3'