Incidental Mutation 'IGL02891:Uba5'
| ID |
363199 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Uba5
|
| Ensembl Gene |
ENSMUSG00000032557 |
| Gene Name |
ubiquitin-like modifier activating enzyme 5 |
| Synonyms |
5730525G14Rik, Ube1dc1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02891
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
103923798-103940333 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 103931392 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035166]
[ENSMUST00000140768]
[ENSMUST00000144195]
|
| AlphaFold |
Q8VE47 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035166
|
| SMART Domains |
Protein: ENSMUSP00000035166
Gene: ENSMUSG00000032557
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
30 |
N/A |
INTRINSIC |
|
Pfam:ThiF
|
51 |
309 |
2.8e-48 |
PFAM |
|
low complexity region
|
317 |
332 |
N/A |
INTRINSIC |
|
low complexity region
|
343 |
353 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140768
|
| SMART Domains |
Protein: ENSMUSP00000118734
Gene: ENSMUSG00000032557
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
30 |
N/A |
INTRINSIC |
|
Pfam:ThiF
|
70 |
101 |
1.5e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144195
|
| SMART Domains |
Protein: ENSMUSP00000118535
Gene: ENSMUSG00000032557
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ThiF
|
1 |
119 |
1.9e-22 |
PFAM |
|
low complexity region
|
220 |
235 |
N/A |
INTRINSIC |
|
low complexity region
|
246 |
256 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147249
|
| SMART Domains |
Protein: ENSMUSP00000115381
Gene: ENSMUSG00000101152
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TPR_12
|
1 |
48 |
3e-14 |
PFAM |
|
Pfam:TPR_12
|
12 |
75 |
2.1e-14 |
PFAM |
|
Pfam:TPR_10
|
15 |
56 |
7.8e-13 |
PFAM |
|
Pfam:TPR_1
|
16 |
49 |
4.4e-9 |
PFAM |
|
Pfam:TPR_7
|
18 |
58 |
7e-8 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191568
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193563
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214222
|
| 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 a member of the E1-like ubiquitin-activating enzyme family. This protein activates ubiquitin-fold modifier 1, a ubiquitin-like post-translational modifier protein, via the formation of a high-energy thioester bond. Alternative splicing results in multiple transcript variants. A pseudogene of this gene has been identified on chromosome 1. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for a knock-out allele die at E12.5. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(2) : Targeted, knock-out(1) Targeted, other(1) |
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
A |
G |
17: 24,500,340 (GRCm39) |
S1284P |
probably damaging |
Het |
| Adgrf1 |
T |
C |
17: 43,622,052 (GRCm39) |
V763A |
probably damaging |
Het |
| Adhfe1 |
T |
A |
1: 9,628,396 (GRCm39) |
M256K |
probably benign |
Het |
| Afg2a |
T |
A |
3: 37,480,341 (GRCm39) |
V130D |
probably damaging |
Het |
| Chit1 |
A |
G |
1: 134,073,048 (GRCm39) |
S125G |
probably benign |
Het |
| Clu |
T |
A |
14: 66,213,433 (GRCm39) |
F273Y |
probably damaging |
Het |
| Dgki |
T |
C |
6: 36,890,676 (GRCm39) |
D869G |
probably benign |
Het |
| Elapor1 |
C |
T |
3: 108,371,708 (GRCm39) |
R672Q |
probably benign |
Het |
| Emx1 |
T |
C |
6: 85,181,067 (GRCm39) |
|
probably benign |
Het |
| Ercc2 |
T |
G |
7: 19,127,211 (GRCm39) |
F316C |
probably damaging |
Het |
| Fam81a |
A |
G |
9: 70,017,558 (GRCm39) |
L129P |
probably damaging |
Het |
| Fat4 |
T |
A |
3: 39,005,422 (GRCm39) |
N1940K |
probably damaging |
Het |
| Fbxl13 |
G |
A |
5: 21,727,098 (GRCm39) |
|
probably benign |
Het |
| Ift70b |
C |
T |
2: 75,767,404 (GRCm39) |
V450M |
possibly damaging |
Het |
| Kcnt2 |
T |
A |
1: 140,502,544 (GRCm39) |
D879E |
probably damaging |
Het |
| Kti12 |
T |
G |
4: 108,705,730 (GRCm39) |
S215A |
probably benign |
Het |
| Lama1 |
G |
A |
17: 68,111,531 (GRCm39) |
G2261R |
probably damaging |
Het |
| Ntn5 |
G |
T |
7: 45,335,648 (GRCm39) |
L26F |
probably damaging |
Het |
| Nwd2 |
A |
G |
5: 63,882,570 (GRCm39) |
N74S |
possibly damaging |
Het |
| Or12d17 |
T |
A |
17: 37,777,835 (GRCm39) |
V246E |
probably damaging |
Het |
| Or2d3c |
A |
G |
7: 106,526,288 (GRCm39) |
V126A |
probably damaging |
Het |
| Phactr4 |
T |
C |
4: 132,114,334 (GRCm39) |
D20G |
probably damaging |
Het |
| Ptpn23 |
G |
A |
9: 110,217,088 (GRCm39) |
Q923* |
probably null |
Het |
| Rfx6 |
T |
A |
10: 51,599,942 (GRCm39) |
S333T |
possibly damaging |
Het |
| Skint10 |
T |
A |
4: 112,586,023 (GRCm39) |
I198F |
probably benign |
Het |
| Taf3 |
G |
A |
2: 9,926,038 (GRCm39) |
P647L |
probably damaging |
Het |
| Tbcb |
T |
C |
7: 29,932,859 (GRCm39) |
|
probably benign |
Het |
| Tmem63c |
T |
C |
12: 87,118,042 (GRCm39) |
F216L |
probably benign |
Het |
| Usp34 |
C |
A |
11: 23,437,166 (GRCm39) |
Q217K |
probably benign |
Het |
| Vmn1r202 |
G |
A |
13: 22,685,640 (GRCm39) |
T259I |
probably benign |
Het |
| Vmn2r99 |
G |
A |
17: 19,598,952 (GRCm39) |
W212* |
probably null |
Het |
| Zfp687 |
G |
T |
3: 94,919,257 (GRCm39) |
P172T |
probably damaging |
Het |
|
| Other mutations in Uba5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02238:Uba5
|
APN |
9 |
103,931,259 (GRCm39) |
splice site |
probably benign |
|
|
IGL03182:Uba5
|
APN |
9 |
103,931,328 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
3-1:Uba5
|
UTSW |
9 |
103,937,591 (GRCm39) |
critical splice donor site |
probably null |
|
|
PIT4810001:Uba5
|
UTSW |
9 |
103,932,396 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0033:Uba5
|
UTSW |
9 |
103,931,347 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0033:Uba5
|
UTSW |
9 |
103,931,347 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0745:Uba5
|
UTSW |
9 |
103,926,710 (GRCm39) |
unclassified |
probably benign |
|
|
R1018:Uba5
|
UTSW |
9 |
103,927,102 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1163:Uba5
|
UTSW |
9 |
103,933,025 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R1771:Uba5
|
UTSW |
9 |
103,927,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2164:Uba5
|
UTSW |
9 |
103,937,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3916:Uba5
|
UTSW |
9 |
103,931,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5072:Uba5
|
UTSW |
9 |
103,931,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5177:Uba5
|
UTSW |
9 |
103,926,497 (GRCm39) |
missense |
probably benign |
|
|
R5563:Uba5
|
UTSW |
9 |
103,926,446 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6606:Uba5
|
UTSW |
9 |
103,932,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7258:Uba5
|
UTSW |
9 |
103,940,132 (GRCm39) |
missense |
unknown |
|
|
R7337:Uba5
|
UTSW |
9 |
103,932,454 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R9546:Uba5
|
UTSW |
9 |
103,931,567 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9547:Uba5
|
UTSW |
9 |
103,931,567 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2015-12-18 |
Incidental Mutation