Incidental Mutation 'R4127:Ubash3a'
| ID |
315455 |
| 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 |
040860-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4127 (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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,141,973 (GRCm39) |
H3R |
probably benign |
Het |
| Actg2 |
A |
T |
6: 83,499,866 (GRCm39) |
F128Y |
possibly damaging |
Het |
| Ankrd6 |
G |
A |
4: 32,822,241 (GRCm39) |
T176M |
probably damaging |
Het |
| Atp6ap1l |
T |
C |
13: 91,046,826 (GRCm39) |
D117G |
probably damaging |
Het |
| Cd209b |
A |
G |
8: 3,968,714 (GRCm39) |
I284T |
probably damaging |
Het |
| Cfl2 |
C |
T |
12: 54,908,143 (GRCm39) |
A123T |
probably benign |
Het |
| Cgnl1 |
T |
C |
9: 71,631,822 (GRCm39) |
T510A |
probably benign |
Het |
| Chn2 |
G |
T |
6: 54,249,963 (GRCm39) |
R24M |
probably damaging |
Het |
| Cyfip2 |
T |
C |
11: 46,161,474 (GRCm39) |
I339V |
probably benign |
Het |
| Etl4 |
C |
T |
2: 20,748,886 (GRCm39) |
P539L |
possibly damaging |
Het |
| Fras1 |
A |
G |
5: 96,918,512 (GRCm39) |
D3516G |
probably benign |
Het |
| Frem2 |
T |
C |
3: 53,433,317 (GRCm39) |
Y2669C |
probably damaging |
Het |
| Gga2 |
G |
T |
7: 121,601,943 (GRCm39) |
H205N |
probably damaging |
Het |
| Gm5592 |
G |
A |
7: 40,938,491 (GRCm39) |
G591D |
probably benign |
Het |
| Gtf3c1 |
A |
T |
7: 125,246,622 (GRCm39) |
C1562* |
probably null |
Het |
| Heatr3 |
T |
A |
8: 88,864,939 (GRCm39) |
C59S |
probably damaging |
Het |
| Heatr5b |
A |
G |
17: 79,060,603 (GRCm39) |
M2024T |
possibly damaging |
Het |
| Jarid2 |
T |
C |
13: 45,055,732 (GRCm39) |
S313P |
probably damaging |
Het |
| Lzts3 |
A |
G |
2: 130,477,285 (GRCm39) |
S502P |
probably damaging |
Het |
| Or5d36 |
A |
G |
2: 87,901,579 (GRCm39) |
V49A |
probably benign |
Het |
| Pcdhb2 |
A |
T |
18: 37,428,594 (GRCm39) |
D189V |
probably damaging |
Het |
| Pias3 |
G |
T |
3: 96,606,982 (GRCm39) |
G82C |
probably damaging |
Het |
| Polg |
T |
C |
7: 79,105,285 (GRCm39) |
E753G |
probably damaging |
Het |
| Pus10 |
T |
C |
11: 23,668,654 (GRCm39) |
|
probably null |
Het |
| Pxn |
A |
G |
5: 115,684,966 (GRCm39) |
R264G |
probably damaging |
Het |
| Rag1 |
A |
G |
2: 101,472,416 (GRCm39) |
Y909H |
probably damaging |
Het |
| Rell2 |
A |
G |
18: 38,091,267 (GRCm39) |
H144R |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Ryr2 |
C |
T |
13: 11,602,323 (GRCm39) |
V4520I |
possibly damaging |
Het |
| Scp2 |
A |
G |
4: 107,921,181 (GRCm39) |
F10L |
probably benign |
Het |
| Slc9b2 |
T |
C |
3: 135,035,598 (GRCm39) |
Y356H |
probably benign |
Het |
| Sorcs1 |
T |
C |
19: 50,210,597 (GRCm39) |
D756G |
probably benign |
Het |
| Stra6 |
T |
A |
9: 58,058,501 (GRCm39) |
V454E |
probably damaging |
Het |
| Tbc1d8 |
T |
C |
1: 39,411,512 (GRCm39) |
N1108S |
probably benign |
Het |
| Tep1 |
C |
T |
14: 51,081,191 (GRCm39) |
R1349Q |
possibly damaging |
Het |
| Tmem132d |
T |
C |
5: 128,345,884 (GRCm39) |
R213G |
probably benign |
Het |
| Xcr1 |
A |
C |
9: 123,685,561 (GRCm39) |
V67G |
probably damaging |
Het |
| Zranb2 |
C |
A |
3: 157,243,227 (GRCm39) |
C74* |
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 |
|
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 |
|
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'- GTCAGCTTTATCAGGAATACCCC -3'
Sequencing Primer
(F):5'- CAAATGCTTGTTTCCATTGACCCAAG -3'
(R):5'- CATCTTCCATGCGTGGTCAGG -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation