Incidental Mutation 'R4128:Ubash3a'
| ID |
315493 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ubash3a
|
| Ensembl Gene |
ENSMUSG00000042345 |
| Gene Name |
ubiquitin associated and SH3 domain containing, A |
| Synonyms |
Sts-2, 5830413C03Rik, TULA |
| MMRRC Submission |
041635-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4128 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
31426847-31465866 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 31456249 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 506
(Y506H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045890
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048656]
|
| AlphaFold |
Q3V3E1 |
| 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 damaging
Transcript: ENSMUST00000048656
AA Change: Y506H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000045890
Gene: ENSMUSG00000042345
AA Change: Y506H
| Domain | Start | End | E-Value | Type |
|---|
|
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
|
| Meta Mutation Damage Score |
0.5822 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.5%
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl4 |
C |
T |
3: 95,588,982 (GRCm39) |
R483Q |
probably benign |
Het |
| Bbox1 |
A |
G |
2: 110,100,525 (GRCm39) |
V224A |
probably benign |
Het |
| Cavin2 |
A |
G |
1: 51,340,581 (GRCm39) |
*419W |
probably null |
Het |
| Cdk19 |
A |
G |
10: 40,270,391 (GRCm39) |
I67V |
probably benign |
Het |
| Cds2 |
A |
G |
2: 132,139,191 (GRCm39) |
T145A |
probably benign |
Het |
| Chn2 |
G |
T |
6: 54,249,963 (GRCm39) |
R24M |
probably damaging |
Het |
| Csl |
T |
C |
10: 99,594,462 (GRCm39) |
D201G |
probably benign |
Het |
| Erap1 |
T |
C |
13: 74,814,315 (GRCm39) |
I33T |
probably damaging |
Het |
| Ermap |
T |
C |
4: 119,044,308 (GRCm39) |
T163A |
possibly damaging |
Het |
| Gnas |
A |
G |
2: 174,141,958 (GRCm39) |
N709S |
possibly damaging |
Het |
| Hsd17b14 |
G |
A |
7: 45,212,432 (GRCm39) |
V155M |
probably damaging |
Het |
| Igf2bp2 |
C |
T |
16: 21,897,371 (GRCm39) |
V281I |
probably benign |
Het |
| Ighj4 |
T |
C |
12: 113,392,176 (GRCm39) |
|
probably benign |
Het |
| Ireb2 |
T |
A |
9: 54,788,716 (GRCm39) |
D63E |
probably benign |
Het |
| Jarid2 |
T |
C |
13: 45,055,732 (GRCm39) |
S313P |
probably damaging |
Het |
| Kcnj11 |
A |
G |
7: 45,749,143 (GRCm39) |
F60S |
probably damaging |
Het |
| Lyplal1 |
A |
G |
1: 185,821,736 (GRCm39) |
C129R |
possibly damaging |
Het |
| Mertk |
C |
T |
2: 128,619,358 (GRCm39) |
Q539* |
probably null |
Het |
| Myrip |
C |
A |
9: 120,293,764 (GRCm39) |
S753* |
probably null |
Het |
| Narf |
G |
A |
11: 121,141,261 (GRCm39) |
|
probably null |
Het |
| Neb |
C |
A |
2: 52,182,712 (GRCm39) |
L1051F |
probably damaging |
Het |
| Nid1 |
T |
C |
13: 13,650,957 (GRCm39) |
V498A |
probably damaging |
Het |
| Or10ab5 |
T |
C |
7: 108,245,633 (GRCm39) |
N50S |
probably benign |
Het |
| Or14j8 |
A |
G |
17: 38,263,681 (GRCm39) |
I78T |
probably benign |
Het |
| Pam |
A |
G |
1: 97,762,193 (GRCm39) |
Y691H |
probably damaging |
Het |
| Poln |
A |
G |
5: 34,261,295 (GRCm39) |
S561P |
probably benign |
Het |
| Rab39 |
T |
A |
9: 53,597,804 (GRCm39) |
I154L |
probably benign |
Het |
| Rnf187 |
A |
T |
11: 58,824,883 (GRCm39) |
S220T |
probably benign |
Het |
| Stac |
C |
A |
9: 111,433,126 (GRCm39) |
|
probably null |
Het |
| Stxbp3 |
T |
C |
3: 108,702,147 (GRCm39) |
Q553R |
probably benign |
Het |
| Tmem179 |
A |
T |
12: 112,477,461 (GRCm39) |
F8I |
possibly damaging |
Het |
| Trip11 |
G |
A |
12: 101,861,957 (GRCm39) |
Q203* |
probably null |
Het |
| Unc13c |
C |
A |
9: 73,641,819 (GRCm39) |
A1225S |
probably damaging |
Het |
| Zranb1 |
C |
A |
7: 132,568,281 (GRCm39) |
S313* |
probably null |
Het |
|
| Other mutations in Ubash3a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00921:Ubash3a
|
APN |
17 |
31,447,160 (GRCm39) |
missense |
probably benign |
|
|
IGL01310:Ubash3a
|
APN |
17 |
31,434,116 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01450:Ubash3a
|
APN |
17 |
31,427,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02429:Ubash3a
|
APN |
17 |
31,460,279 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02458:Ubash3a
|
APN |
17 |
31,450,455 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL03014:Ubash3a
|
UTSW |
17 |
31,458,198 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1033:Ubash3a
|
UTSW |
17 |
31,427,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1700:Ubash3a
|
UTSW |
17 |
31,434,018 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2212:Ubash3a
|
UTSW |
17 |
31,437,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3800:Ubash3a
|
UTSW |
17 |
31,450,444 (GRCm39) |
missense |
probably benign |
0.24 |
|
R4125:Ubash3a
|
UTSW |
17 |
31,456,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4127:Ubash3a
|
UTSW |
17 |
31,456,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4224:Ubash3a
|
UTSW |
17 |
31,456,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4786:Ubash3a
|
UTSW |
17 |
31,436,938 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5311:Ubash3a
|
UTSW |
17 |
31,438,691 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5782:Ubash3a
|
UTSW |
17 |
31,454,477 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5804:Ubash3a
|
UTSW |
17 |
31,427,206 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6244:Ubash3a
|
UTSW |
17 |
31,458,246 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6263:Ubash3a
|
UTSW |
17 |
31,434,069 (GRCm39) |
missense |
probably benign |
0.22 |
|
R6574:Ubash3a
|
UTSW |
17 |
31,451,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6736:Ubash3a
|
UTSW |
17 |
31,450,389 (GRCm39) |
missense |
probably benign |
|
|
R7041:Ubash3a
|
UTSW |
17 |
31,447,184 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7458:Ubash3a
|
UTSW |
17 |
31,427,139 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7490:Ubash3a
|
UTSW |
17 |
31,451,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7991:Ubash3a
|
UTSW |
17 |
31,456,869 (GRCm39) |
missense |
probably benign |
0.34 |
|
R9040:Ubash3a
|
UTSW |
17 |
31,457,960 (GRCm39) |
intron |
probably benign |
|
|
R9200:Ubash3a
|
UTSW |
17 |
31,436,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCTAGGTTTGTTGTATCCAAATGC -3'
(R):5'- GGTCAGCTTTATCAGGAATACCC -3'
Sequencing Primer
(F):5'- CAAATGCTTGTTTCCATTGACCCAAG -3'
(R):5'- CATCTTCCATGCGTGGTCAGG -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation