Incidental Mutation 'R4224:Ubash3a'
| ID |
319981 |
| 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 |
041044-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4224 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
31426847-31465866 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 31456902 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 521
(Y521H)
|
| 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: Y521H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000045890
Gene: ENSMUSG00000042345
AA Change: Y521H
| 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 |
0.6449 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 96.0%
|
| Validation Efficiency |
95% (42/44) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9330182O14Rik |
T |
C |
15: 40,005,672 (GRCm39) |
|
probably null |
Het |
| Abl2 |
A |
G |
1: 156,461,417 (GRCm39) |
T440A |
probably damaging |
Het |
| Acat2 |
T |
C |
17: 13,181,772 (GRCm39) |
|
probably benign |
Het |
| Acsbg1 |
C |
T |
9: 54,523,325 (GRCm39) |
R434H |
possibly damaging |
Het |
| Aif1l |
A |
T |
2: 31,852,251 (GRCm39) |
S40C |
probably damaging |
Het |
| Atosa |
T |
A |
9: 74,916,008 (GRCm39) |
N209K |
probably damaging |
Het |
| Atp6v1a |
C |
A |
16: 43,922,174 (GRCm39) |
A355S |
probably damaging |
Het |
| Corin |
T |
C |
5: 72,500,451 (GRCm39) |
E391G |
probably damaging |
Het |
| Dnah11 |
T |
G |
12: 118,094,627 (GRCm39) |
S814R |
probably benign |
Het |
| Fer1l4 |
A |
C |
2: 155,862,309 (GRCm39) |
V1788G |
probably benign |
Het |
| Gm7964 |
T |
G |
7: 83,406,030 (GRCm39) |
N281K |
probably damaging |
Het |
| Grin1 |
T |
C |
2: 25,187,332 (GRCm39) |
|
probably benign |
Het |
| Ica1 |
T |
C |
6: 8,659,960 (GRCm39) |
K112R |
probably benign |
Het |
| Itpr3 |
T |
C |
17: 27,326,232 (GRCm39) |
V1334A |
probably damaging |
Het |
| Khdc3 |
C |
G |
9: 73,010,153 (GRCm39) |
H70D |
possibly damaging |
Het |
| Lama3 |
T |
C |
18: 12,583,460 (GRCm39) |
C683R |
probably damaging |
Het |
| Mettl21a |
G |
T |
1: 64,647,115 (GRCm39) |
Y147* |
probably null |
Het |
| Mr1 |
A |
T |
1: 155,006,465 (GRCm39) |
I294N |
possibly damaging |
Het |
| Or52z12 |
A |
G |
7: 103,233,966 (GRCm39) |
T246A |
probably damaging |
Het |
| Or7e170 |
T |
A |
9: 19,794,896 (GRCm39) |
Y235F |
probably benign |
Het |
| Pals1 |
A |
G |
12: 78,876,492 (GRCm39) |
K479E |
probably damaging |
Het |
| Pcdhgb7 |
T |
A |
18: 37,886,856 (GRCm39) |
D675E |
probably benign |
Het |
| Polr1has |
T |
C |
17: 37,269,617 (GRCm39) |
|
probably benign |
Het |
| Ptbp1 |
T |
C |
10: 79,695,047 (GRCm39) |
I125T |
probably benign |
Het |
| Rnf213 |
C |
T |
11: 119,327,649 (GRCm39) |
R1879* |
probably null |
Het |
| Slc8a1 |
A |
G |
17: 81,956,781 (GRCm39) |
F86L |
probably damaging |
Het |
| Spdya |
G |
A |
17: 71,869,519 (GRCm39) |
V105I |
probably benign |
Het |
| Sspo |
G |
T |
6: 48,428,091 (GRCm39) |
V313L |
possibly damaging |
Het |
| Stard9 |
A |
G |
2: 120,495,472 (GRCm39) |
T116A |
possibly damaging |
Het |
| Tnnt1 |
T |
C |
7: 4,513,006 (GRCm39) |
H92R |
probably damaging |
Het |
| Trim37 |
T |
A |
11: 87,107,289 (GRCm39) |
C907S |
probably damaging |
Het |
| Trim43b |
T |
A |
9: 88,972,692 (GRCm39) |
Q154L |
probably benign |
Het |
| Tssk3 |
T |
C |
4: 129,384,392 (GRCm39) |
D3G |
probably benign |
Het |
| Vmn1r73 |
T |
C |
7: 11,490,506 (GRCm39) |
I108T |
probably damaging |
Het |
| Vmn2r14 |
A |
G |
5: 109,364,149 (GRCm39) |
M589T |
probably benign |
Het |
| Vmn2r60 |
A |
T |
7: 41,765,952 (GRCm39) |
T20S |
probably benign |
Het |
| Vps13b |
A |
G |
15: 35,876,565 (GRCm39) |
T2799A |
probably damaging |
Het |
| Zcchc18 |
A |
T |
X: 135,895,415 (GRCm39) |
N10I |
probably damaging |
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 |
|
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'- ATTCAACCTCCATGCTGGTG -3'
(R):5'- ATGTACTGTCTTGGCCAGAATATG -3'
Sequencing Primer
(F):5'- AGCCCTTTGCCAGTGTGAG -3'
(R):5'- CCAGAATATGGGAGTGAAGAGGTAG -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation