Incidental Mutation 'IGL00921:Ubash3a'
ID29269
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ubash3a
Ensembl Gene ENSMUSG00000042345
Gene Nameubiquitin associated and SH3 domain containing, A
Synonyms5830413C03Rik, Sts-2, TULA
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00921
Quality Score
Status
Chromosome17
Chromosomal Location31207873-31242202 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 31228186 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 339 (T339A)
Ref Sequence ENSEMBL: ENSMUSP00000045890 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048656]
PDB Structure
Crystal structure of the 2H-phosphatase domain of Sts-2 [X-RAY DIFFRACTION]
Crystal structure of the 2H-phosphatase domain of Sts-2 in complex with tungstate. [X-RAY DIFFRACTION]
Crystal structure of the 2H-phosphatase domain of Sts-2 in complex with phosphate [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000048656
AA Change: T339A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000045890
Gene: ENSMUSG00000042345
AA Change: T339A

DomainStartEndE-ValueType
Pfam:UBA 23 57 2.6e-7 PFAM
SH3 241 302 5.53e-10 SMART
Pfam:His_Phos_1 402 601 6.5e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151620
Coding Region Coverage
Validation Efficiency
MGI Phenotype 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
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A G 1: 71,285,729 I1530T probably damaging Het
Actb T C 5: 142,904,436 E237G probably damaging Het
Atrnl1 A G 19: 57,702,153 E931G probably damaging Het
Cenpc1 T C 5: 86,037,528 T375A probably benign Het
D1Pas1 A G 1: 186,968,786 D304G probably benign Het
Ddx49 G A 8: 70,294,756 Q345* probably null Het
Dnttip2 A T 3: 122,275,290 K51N probably benign Het
Fxr2 A G 11: 69,652,240 E621G probably damaging Het
Grhpr A G 4: 44,988,991 D216G probably damaging Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Hook2 T C 8: 85,002,497 probably benign Het
Hspbp1 A G 7: 4,664,751 S248P probably damaging Het
Kat6a C T 8: 22,940,263 P1878L unknown Het
Klrg1 A T 6: 122,282,752 D20E probably benign Het
Layn G A 9: 51,057,408 T345I probably damaging Het
Mpi G A 9: 57,552,266 L9F probably damaging Het
Nbn T C 4: 15,963,833 V78A possibly damaging Het
Pkdrej A G 15: 85,817,226 I1503T probably damaging Het
Pou2f2 C A 7: 25,092,700 E577* probably null Het
Prim2 G T 1: 33,512,160 H292Q probably damaging Het
Tg A G 15: 66,764,453 N630D probably benign Het
Trim80 A G 11: 115,447,664 N440S probably benign Het
Ttn T C 2: 76,936,402 S3111G probably damaging Het
Zbtb21 A C 16: 97,952,022 S354A probably damaging Het
Zfp335 T C 2: 164,894,776 T980A possibly damaging Het
Other mutations in Ubash3a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01310:Ubash3a APN 17 31215142 missense probably benign 0.03
IGL01450:Ubash3a APN 17 31208231 missense probably damaging 1.00
IGL02429:Ubash3a APN 17 31241305 missense probably benign 0.00
IGL02458:Ubash3a APN 17 31231481 missense possibly damaging 0.94
IGL03014:Ubash3a UTSW 17 31239224 missense probably damaging 1.00
R1033:Ubash3a UTSW 17 31208212 missense probably damaging 1.00
R1700:Ubash3a UTSW 17 31215044 missense probably damaging 0.99
R2212:Ubash3a UTSW 17 31218034 missense probably damaging 1.00
R3800:Ubash3a UTSW 17 31231470 missense probably benign 0.24
R4125:Ubash3a UTSW 17 31237275 missense probably damaging 1.00
R4127:Ubash3a UTSW 17 31237275 missense probably damaging 1.00
R4128:Ubash3a UTSW 17 31237275 missense probably damaging 1.00
R4224:Ubash3a UTSW 17 31237928 missense probably damaging 1.00
R4786:Ubash3a UTSW 17 31217964 missense probably benign 0.31
R5311:Ubash3a UTSW 17 31219717 missense probably damaging 0.99
R5782:Ubash3a UTSW 17 31235503 missense probably benign 0.05
R5804:Ubash3a UTSW 17 31208232 critical splice donor site probably null
R6244:Ubash3a UTSW 17 31239272 missense possibly damaging 0.90
R6263:Ubash3a UTSW 17 31215095 missense probably benign 0.22
R6574:Ubash3a UTSW 17 31232396 missense probably damaging 1.00
R6736:Ubash3a UTSW 17 31231415 missense probably benign
R7041:Ubash3a UTSW 17 31228210 missense probably benign 0.00
R7458:Ubash3a UTSW 17 31208165 missense probably benign 0.02
R7490:Ubash3a UTSW 17 31232312 missense probably damaging 1.00
R7991:Ubash3a UTSW 17 31237895 missense probably benign 0.34
Posted On2013-04-17