Incidental Mutation 'R6574:Ubash3a'
| ID |
523371 |
| 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 |
044698-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6574 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
31426847-31465866 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 31451370 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 423
(Q423L)
|
| 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: Q423L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000045890
Gene: ENSMUSG00000042345
AA Change: Q423L
| 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
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.0%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503B20Rik |
A |
C |
3: 146,356,613 (GRCm39) |
D98E |
probably benign |
Het |
| Ackr3 |
T |
C |
1: 90,141,790 (GRCm39) |
I83T |
probably damaging |
Het |
| Ahnak |
A |
T |
19: 8,994,411 (GRCm39) |
M5232L |
probably benign |
Het |
| Ano1 |
A |
C |
7: 144,161,653 (GRCm39) |
|
probably null |
Het |
| Arap1 |
T |
A |
7: 101,053,208 (GRCm39) |
I532N |
probably damaging |
Het |
| Bsn |
A |
G |
9: 107,991,153 (GRCm39) |
V1533A |
possibly damaging |
Het |
| Ccdc83 |
T |
C |
7: 89,875,885 (GRCm39) |
S329G |
possibly damaging |
Het |
| Ccno |
T |
A |
13: 113,124,719 (GRCm39) |
D96E |
probably benign |
Het |
| Cpsf1 |
CCCCTGCATGAGGCAGGTCCC |
CCCC |
15: 76,481,655 (GRCm39) |
|
probably null |
Het |
| Degs1 |
T |
C |
1: 182,106,638 (GRCm39) |
Y207C |
probably damaging |
Het |
| Dnah7a |
A |
T |
1: 53,495,693 (GRCm39) |
|
probably null |
Het |
| Dnah9 |
C |
T |
11: 66,059,107 (GRCm39) |
A63T |
probably benign |
Het |
| Eif4e1b |
T |
C |
13: 54,932,711 (GRCm39) |
F100S |
probably damaging |
Het |
| Eps8 |
A |
T |
6: 137,460,596 (GRCm39) |
Y722* |
probably null |
Het |
| Etfa |
A |
T |
9: 55,402,910 (GRCm39) |
I96N |
probably damaging |
Het |
| Flt4 |
A |
G |
11: 49,516,199 (GRCm39) |
T101A |
probably benign |
Het |
| Gabra4 |
A |
G |
5: 71,781,268 (GRCm39) |
I381T |
probably benign |
Het |
| Gria2 |
A |
G |
3: 80,596,603 (GRCm39) |
V821A |
probably damaging |
Het |
| Gss |
G |
T |
2: 155,423,931 (GRCm39) |
T51K |
probably damaging |
Het |
| Igkv13-84 |
C |
A |
6: 68,916,977 (GRCm39) |
Y91* |
probably null |
Het |
| Iqcb1 |
A |
T |
16: 36,691,863 (GRCm39) |
Q487H |
probably damaging |
Het |
| Itga8 |
G |
A |
2: 12,234,972 (GRCm39) |
H429Y |
probably benign |
Het |
| Myo1c |
T |
G |
11: 75,547,124 (GRCm39) |
|
probably benign |
Het |
| Odad2 |
C |
A |
18: 7,129,394 (GRCm39) |
|
probably null |
Het |
| Pcdhga5 |
T |
C |
18: 37,828,434 (GRCm39) |
L294P |
probably damaging |
Het |
| Pkd2l2 |
T |
C |
18: 34,558,134 (GRCm39) |
L271P |
probably damaging |
Het |
| Plcb2 |
T |
C |
2: 118,549,654 (GRCm39) |
D290G |
probably damaging |
Het |
| Pmp22 |
C |
T |
11: 63,049,099 (GRCm39) |
A114V |
probably damaging |
Het |
| Ppp1r15a |
T |
C |
7: 45,173,533 (GRCm39) |
D425G |
probably benign |
Het |
| Ppp2r3d |
G |
A |
9: 101,071,584 (GRCm39) |
P678L |
probably benign |
Het |
| Ptbp2 |
T |
G |
3: 119,541,596 (GRCm39) |
Q147P |
probably damaging |
Het |
| Sez6l |
A |
G |
5: 112,724,692 (GRCm39) |
S15P |
possibly damaging |
Het |
| Slc25a10 |
T |
C |
11: 120,387,903 (GRCm39) |
F199L |
probably benign |
Het |
| Slc4a8 |
A |
G |
15: 100,705,197 (GRCm39) |
N801S |
probably damaging |
Het |
| Sucnr1 |
T |
C |
3: 59,994,020 (GRCm39) |
Y183H |
probably damaging |
Het |
| Tmem67 |
T |
C |
4: 12,063,086 (GRCm39) |
D520G |
possibly damaging |
Het |
| Trgc3 |
G |
T |
13: 19,445,293 (GRCm39) |
R80S |
probably benign |
Het |
| Trrap |
G |
T |
5: 144,752,360 (GRCm39) |
|
probably null |
Het |
| Tubgcp5 |
C |
T |
7: 55,473,331 (GRCm39) |
P803L |
probably benign |
Het |
| Ucp1 |
G |
A |
8: 84,020,718 (GRCm39) |
|
probably null |
Het |
| Vmn2r94 |
G |
T |
17: 18,476,421 (GRCm39) |
N425K |
probably damaging |
Het |
| Vps52 |
A |
G |
17: 34,181,452 (GRCm39) |
M418V |
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 |
|
R4128: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 |
|
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'- GTCTTGGGTAACGAGTGGAATT -3'
(R):5'- TGCAGTGTTCCCTCCCTATA -3'
Sequencing Primer
(F):5'- AACGAGTGGAATTTGTCTCCG -3'
(R):5'- GTTTCAAAAGTTCATGCCAGGCC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation