|Institutional Source||Beutler Lab|
|Gene Name||ubiquitin associated and SH3 domain containing, A|
|Synonyms||5830413C03Rik, Sts-2, TULA|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R4224 (G1)|
|Chromosomal Location||31207873-31242202 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 31237928 bp|
|Amino Acid Change||Tyrosine to Histidine at position 521 (Y521H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000045890 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000048656]|
|Predicted Effect||probably damaging
AA Change: Y521H
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: Y521H
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.272|
|Coding Region Coverage||
|Validation Efficiency||95% (42/44)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of two family members belonging to the T-cell ubiquitin ligand (TULA) family. Both family members can negatively regulate T-cell signaling. This family member can facilitate growth factor withdrawal-induced apoptosis in T cells, which may occur via its interaction with AIF, an apoptosis-inducing factor. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]
PHENOTYPE: Homozygous null mice are viable and healthy with no abnormalities detected in any of the hematopoietic lineages. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ubash3a||
(F):5'- ATTCAACCTCCATGCTGGTG -3'
(R):5'- ATGTACTGTCTTGGCCAGAATATG -3'
(F):5'- AGCCCTTTGCCAGTGTGAG -3'
(R):5'- CCAGAATATGGGAGTGAAGAGGTAG -3'