|Institutional Source||Beutler Lab|
|Gene Name||squamous cell carcinoma antigen recognized by T cells 3|
|Is this an essential gene?||Probably essential (E-score: 0.970)|
|Stock #||R7062 (G1)|
|Chromosomal Location||113742446-113772510 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 113745602 bp|
|Amino Acid Change||Lysine to Arginine at position 783 (K783R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000019118 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000019118] [ENSMUST00000197041]|
|Predicted Effect||possibly damaging
AA Change: K783R
PolyPhen 2 Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)
AA Change: K783R
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.1611|
|Coding Region Coverage||
|Validation Efficiency||99% (86/87)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an RNA-binding nuclear protein that is a tumor-rejection antigen. This antigen possesses tumor epitopes capable of inducing HLA-A24-restricted and tumor-specific cytotoxic T lymphocytes in cancer patients and may be useful for specific immunotherapy. This gene product is found to be an important cellular factor for HIV-1 gene expression and viral replication. It also associates transiently with U6 and U4/U6 snRNPs during the recycling phase of the spliceosome cycle. This encoded protein is thought to be involved in the regulation of mRNA splicing. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a conditional allele activated in hematopoietic cells exhibit protection against the effects of 5-FU treatment. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Sart3||
(F):5'- CTCCCAAATGCTACTGTGGC -3'
(R):5'- CTACAGCATAGAAGAGCCCG -3'
(F):5'- TGGCCACCACCAACCAAGAG -3'
(R):5'- AAGCTCAGGCCGCTCTTTGAG -3'