Incidental Mutation 'IGL02238:Uba5'
| ID |
285992 |
| 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 # |
IGL02238
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
103923798-103940333 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 103931259 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
T |
A |
7: 119,995,829 (GRCm39) |
I1322N |
probably benign |
Het |
| Adamts1 |
A |
T |
16: 85,592,713 (GRCm39) |
M565K |
probably benign |
Het |
| Akr1b7 |
T |
A |
6: 34,392,333 (GRCm39) |
Y49N |
probably damaging |
Het |
| Cacna2d2 |
T |
A |
9: 107,390,757 (GRCm39) |
V363E |
probably damaging |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cdh10 |
C |
T |
15: 19,013,605 (GRCm39) |
T735I |
probably damaging |
Het |
| Cds1 |
T |
A |
5: 101,962,302 (GRCm39) |
C306S |
possibly damaging |
Het |
| Cfap251 |
T |
C |
5: 123,440,486 (GRCm39) |
Y1091H |
probably damaging |
Het |
| Clasp2 |
T |
C |
9: 113,709,088 (GRCm39) |
C644R |
probably damaging |
Het |
| Coil |
T |
C |
11: 88,872,580 (GRCm39) |
S314P |
probably benign |
Het |
| D630045J12Rik |
T |
A |
6: 38,173,329 (GRCm39) |
M280L |
probably benign |
Het |
| Dmxl2 |
C |
T |
9: 54,352,717 (GRCm39) |
V795M |
probably damaging |
Het |
| Dock10 |
A |
G |
1: 80,511,510 (GRCm39) |
V1533A |
probably damaging |
Het |
| Fbxo40 |
T |
C |
16: 36,789,536 (GRCm39) |
N525D |
possibly damaging |
Het |
| Fezf2 |
T |
C |
14: 12,344,494 (GRCm38) |
E231G |
probably damaging |
Het |
| Fmn1 |
T |
C |
2: 113,412,470 (GRCm39) |
V870A |
possibly damaging |
Het |
| Ifi44 |
A |
G |
3: 151,438,019 (GRCm39) |
*423Q |
probably null |
Het |
| Invs |
T |
C |
4: 48,390,029 (GRCm39) |
V173A |
probably damaging |
Het |
| Krt88 |
A |
G |
15: 101,350,486 (GRCm39) |
|
probably benign |
Het |
| Mctp2 |
A |
T |
7: 71,739,953 (GRCm39) |
Y812* |
probably null |
Het |
| Neto2 |
T |
C |
8: 86,396,292 (GRCm39) |
I118V |
probably damaging |
Het |
| Nutm2 |
T |
G |
13: 50,625,075 (GRCm39) |
M264R |
probably damaging |
Het |
| Or2d2 |
A |
G |
7: 106,728,244 (GRCm39) |
S119P |
probably damaging |
Het |
| Or8u8 |
T |
C |
2: 86,011,939 (GRCm39) |
|
probably null |
Het |
| Pcnx1 |
G |
A |
12: 81,964,688 (GRCm39) |
R285Q |
probably damaging |
Het |
| Pi16 |
G |
T |
17: 29,545,269 (GRCm39) |
K177N |
probably damaging |
Het |
| Pigg |
C |
T |
5: 108,466,794 (GRCm39) |
S225F |
possibly damaging |
Het |
| Prrc2b |
T |
A |
2: 32,103,429 (GRCm39) |
V969E |
probably damaging |
Het |
| Rab4b |
A |
C |
7: 26,872,154 (GRCm39) |
Y189D |
probably benign |
Het |
| Ran |
A |
G |
5: 129,099,246 (GRCm39) |
N143D |
possibly damaging |
Het |
| Rfc4 |
A |
T |
16: 22,933,219 (GRCm39) |
F286L |
probably damaging |
Het |
| Sel1l2 |
T |
C |
2: 140,089,859 (GRCm39) |
Y418C |
probably damaging |
Het |
| Slc13a1 |
T |
C |
6: 24,103,482 (GRCm39) |
I354V |
probably benign |
Het |
| Slc7a2 |
A |
T |
8: 41,361,193 (GRCm39) |
T386S |
probably benign |
Het |
| Tm2d2 |
G |
T |
8: 25,512,787 (GRCm39) |
V212F |
probably benign |
Het |
| Tmem247 |
A |
T |
17: 87,225,721 (GRCm39) |
N54Y |
probably damaging |
Het |
| Txnrd3 |
T |
A |
6: 89,633,117 (GRCm39) |
Y206N |
probably benign |
Het |
| Vmn2r54 |
A |
G |
7: 12,369,910 (GRCm39) |
L51P |
probably damaging |
Het |
| Zfp735 |
A |
G |
11: 73,601,319 (GRCm39) |
K88E |
probably benign |
Het |
|
| Other mutations in Uba5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02891:Uba5
|
APN |
9 |
103,931,392 (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 |
2015-04-16 |
Incidental Mutation