Incidental Mutation 'IGL01450:Ubash3a'
| ID |
84616 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ubash3a
|
| Ensembl Gene |
ENSMUSG00000042345 |
| Gene Name |
ubiquitin associated and SH3 domain containing, A |
| Synonyms |
Sts-2, 5830413C03Rik, TULA |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01450
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
31426847-31465866 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 31427205 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 38
(A38E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119279
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048656]
[ENSMUST00000144772]
[ENSMUST00000173776]
|
| AlphaFold |
Q3V3E1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048656
AA Change: A38E
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000045890
Gene: ENSMUSG00000042345
AA Change: A38E
| 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 |
probably damaging
Transcript: ENSMUST00000144772
AA Change: A38E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000119279
Gene: ENSMUSG00000042345
AA Change: A38E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UBA
|
21 |
57 |
8.3e-8 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147686
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151620
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000173776
AA Change: A38E
PolyPhen 2
Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000134557
Gene: ENSMUSG00000042345
AA Change: A38E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UBA
|
21 |
57 |
1.1e-6 |
PFAM |
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acod1 |
G |
A |
14: 103,288,919 (GRCm39) |
R143Q |
possibly damaging |
Het |
| Adh4 |
T |
A |
3: 138,129,794 (GRCm39) |
C207S |
probably benign |
Het |
| Akap8 |
C |
A |
17: 32,534,661 (GRCm39) |
R317L |
probably damaging |
Het |
| Aptx |
T |
C |
4: 40,688,133 (GRCm39) |
T182A |
probably damaging |
Het |
| Ccar2 |
A |
T |
14: 70,377,200 (GRCm39) |
|
probably benign |
Het |
| Cd300ld2 |
T |
A |
11: 114,903,369 (GRCm39) |
|
probably benign |
Het |
| Cgnl1 |
T |
C |
9: 71,539,144 (GRCm39) |
|
probably benign |
Het |
| Cubn |
A |
G |
2: 13,355,673 (GRCm39) |
|
probably benign |
Het |
| Cyp2j5 |
T |
A |
4: 96,546,927 (GRCm39) |
T196S |
probably damaging |
Het |
| Dctn1 |
T |
C |
6: 83,171,092 (GRCm39) |
|
probably benign |
Het |
| Dync2li1 |
A |
T |
17: 84,940,984 (GRCm39) |
T67S |
possibly damaging |
Het |
| Fetub |
A |
G |
16: 22,747,986 (GRCm39) |
N54S |
probably benign |
Het |
| Gpld1 |
T |
C |
13: 25,163,664 (GRCm39) |
Y486H |
probably damaging |
Het |
| Grb10 |
T |
A |
11: 11,920,432 (GRCm39) |
H62L |
probably damaging |
Het |
| H6pd |
T |
G |
4: 150,068,575 (GRCm39) |
H264P |
probably damaging |
Het |
| Lmtk2 |
T |
C |
5: 144,111,520 (GRCm39) |
S747P |
probably benign |
Het |
| Mtcl3 |
T |
A |
10: 29,072,319 (GRCm39) |
M537K |
probably damaging |
Het |
| Nkpd1 |
T |
C |
7: 19,257,550 (GRCm39) |
F293S |
probably damaging |
Het |
| Or1j15 |
T |
A |
2: 36,458,754 (GRCm39) |
L48H |
probably damaging |
Het |
| Osbpl1a |
A |
C |
18: 13,004,152 (GRCm39) |
F422V |
possibly damaging |
Het |
| Pclo |
A |
T |
5: 14,727,207 (GRCm39) |
|
probably benign |
Het |
| Phc3 |
G |
A |
3: 30,968,653 (GRCm39) |
R825C |
probably damaging |
Het |
| Plk2 |
G |
A |
13: 110,532,858 (GRCm39) |
V140M |
probably damaging |
Het |
| Racgap1 |
A |
G |
15: 99,524,244 (GRCm39) |
S388P |
probably benign |
Het |
| Rap1gds1 |
A |
T |
3: 138,671,681 (GRCm39) |
N146K |
probably damaging |
Het |
| Rgs7 |
C |
T |
1: 174,913,746 (GRCm39) |
V1M |
probably benign |
Het |
| Rps6ka5 |
A |
T |
12: 100,519,250 (GRCm39) |
|
probably benign |
Het |
| Scn4a |
A |
G |
11: 106,215,487 (GRCm39) |
I1163T |
probably damaging |
Het |
| Selenop |
C |
T |
15: 3,306,755 (GRCm39) |
T178M |
probably benign |
Het |
| Shank2 |
G |
T |
7: 143,838,805 (GRCm39) |
E680* |
probably null |
Het |
| Sipa1l2 |
A |
C |
8: 126,149,316 (GRCm39) |
|
probably null |
Het |
| Slc14a2 |
T |
C |
18: 78,226,745 (GRCm39) |
T437A |
probably damaging |
Het |
| Smarcc2 |
C |
T |
10: 128,305,189 (GRCm39) |
P307S |
probably damaging |
Het |
| Sptb |
C |
A |
12: 76,671,014 (GRCm39) |
R443L |
possibly damaging |
Het |
| Stpg3 |
T |
C |
2: 25,104,622 (GRCm39) |
|
probably benign |
Het |
| Tinag |
T |
A |
9: 76,952,858 (GRCm39) |
E42V |
possibly damaging |
Het |
| Topors |
C |
A |
4: 40,262,417 (GRCm39) |
R289L |
probably damaging |
Het |
| Vmn2r121 |
T |
A |
X: 123,040,888 (GRCm39) |
Y481F |
possibly damaging |
Het |
| Vps54 |
A |
T |
11: 21,241,135 (GRCm39) |
E359D |
probably benign |
Het |
| Xkr6 |
G |
A |
14: 64,035,664 (GRCm39) |
R255H |
probably damaging |
Het |
| Zfp750 |
C |
T |
11: 121,403,855 (GRCm39) |
R340H |
probably benign |
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 |
|
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 |
|
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 |
|
| Posted On |
2013-11-11 |
Incidental Mutation