Incidental Mutation 'R0745:Uba5'
ID |
70925 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Uba5
|
Ensembl Gene |
ENSMUSG00000032557 |
Gene Name |
ubiquitin-like modifier activating enzyme 5 |
Synonyms |
5730525G14Rik, Ube1dc1 |
MMRRC Submission |
038926-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0745 (G1)
|
Quality Score |
89 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
103923798-103940333 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
A to G
at 103926710 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 |
noncoding transcript
Transcript: ENSMUST00000193689
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000214222
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 95.0%
|
Validation Efficiency |
100% (40/40) |
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd12 |
A |
T |
2: 150,675,068 (GRCm39) |
|
probably null |
Het |
Adam17 |
A |
G |
12: 21,382,222 (GRCm39) |
|
probably benign |
Het |
Aldh1l2 |
T |
A |
10: 83,354,494 (GRCm39) |
|
probably null |
Het |
Bltp1 |
A |
G |
3: 36,982,612 (GRCm39) |
Y759C |
probably damaging |
Het |
Brca2 |
A |
T |
5: 150,468,347 (GRCm39) |
|
probably benign |
Het |
Capn13 |
A |
C |
17: 73,658,503 (GRCm39) |
D188E |
probably benign |
Het |
Col14a1 |
A |
T |
15: 55,201,813 (GRCm39) |
T34S |
unknown |
Het |
Col5a2 |
A |
G |
1: 45,446,387 (GRCm39) |
|
probably null |
Het |
Cyp4v3 |
A |
G |
8: 45,761,688 (GRCm39) |
|
probably benign |
Het |
Dlat |
G |
A |
9: 50,565,008 (GRCm39) |
T233M |
probably damaging |
Het |
Eef2 |
C |
T |
10: 81,017,830 (GRCm39) |
P831S |
probably benign |
Het |
Endod1 |
A |
T |
9: 14,268,413 (GRCm39) |
N357K |
possibly damaging |
Het |
Evc |
A |
T |
5: 37,476,403 (GRCm39) |
V205E |
probably damaging |
Het |
Fryl |
A |
G |
5: 73,228,469 (GRCm39) |
L1754P |
probably damaging |
Het |
Gabra6 |
A |
T |
11: 42,207,394 (GRCm39) |
M230K |
probably damaging |
Het |
Hsd3b5 |
A |
G |
3: 98,526,855 (GRCm39) |
V197A |
probably benign |
Het |
Kmt2c |
A |
T |
5: 25,564,696 (GRCm39) |
|
probably null |
Het |
Mthfsd |
A |
T |
8: 121,829,688 (GRCm39) |
L116Q |
probably damaging |
Het |
Mug1 |
A |
G |
6: 121,864,386 (GRCm39) |
T1428A |
probably benign |
Het |
Obscn |
A |
G |
11: 58,973,065 (GRCm39) |
V2312A |
probably benign |
Het |
Or1i2 |
T |
C |
10: 78,447,956 (GRCm39) |
E173G |
probably benign |
Het |
Palld |
G |
A |
8: 62,330,737 (GRCm39) |
R47C |
probably damaging |
Het |
Pds5b |
A |
G |
5: 150,729,136 (GRCm39) |
T1424A |
probably benign |
Het |
Ppp6r2 |
G |
A |
15: 89,149,445 (GRCm39) |
|
probably null |
Het |
Sik3 |
A |
G |
9: 46,109,537 (GRCm39) |
N505S |
probably benign |
Het |
Spin1 |
A |
G |
13: 51,293,551 (GRCm39) |
Y87C |
probably damaging |
Het |
Tcp11 |
T |
C |
17: 28,286,134 (GRCm39) |
I494V |
possibly damaging |
Het |
Tgfa |
G |
A |
6: 86,248,417 (GRCm39) |
E140K |
probably damaging |
Het |
Trappc9 |
G |
A |
15: 72,897,816 (GRCm39) |
R377W |
probably damaging |
Het |
Trmo |
A |
G |
4: 46,382,104 (GRCm39) |
F338L |
probably damaging |
Het |
Tspan17 |
T |
C |
13: 54,937,487 (GRCm39) |
V27A |
possibly damaging |
Het |
Tut4 |
C |
G |
4: 108,360,152 (GRCm39) |
|
probably benign |
Het |
Unc5a |
CTGTGTGTGTGTGTGT |
CTGTGTGTGTGTGT |
13: 55,153,068 (GRCm39) |
|
probably null |
Het |
Zbbx |
C |
T |
3: 75,062,734 (GRCm39) |
V8I |
probably damaging |
Het |
Zfp451 |
A |
T |
1: 33,809,929 (GRCm39) |
L931* |
probably null |
Het |
Zmym4 |
A |
T |
4: 126,796,496 (GRCm39) |
|
probably benign |
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGCCTTCAGGTAAGGTGGGAACAG -3'
(R):5'- AAGCCAAACCCTCAGTGTGATGAC -3'
Sequencing Primer
(F):5'- AGTTCCTCTTCTGAAACCTCAGAC -3'
(R):5'- CCTGGGACAGTGACTTTCAAG -3'
|
Posted On |
2013-09-30 |