Incidental Mutation 'R6606:Uba5'
| ID |
525696 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Uba5
|
| Ensembl Gene |
ENSMUSG00000032557 |
| Gene Name |
ubiquitin-like modifier activating enzyme 5 |
| Synonyms |
5730525G14Rik, Ube1dc1 |
| MMRRC Submission |
044729-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6606 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
103923798-103940333 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 103932420 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 181
(D181G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035166
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035166]
[ENSMUST00000140768]
[ENSMUST00000144195]
|
| AlphaFold |
Q8VE47 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035166
AA Change: D181G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000035166
Gene: ENSMUSG00000032557
AA Change: D181G
| 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 |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.5%
|
| Validation Efficiency |
100% (35/35) |
| 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 |
|---|
| Adal |
A |
G |
2: 120,980,769 (GRCm39) |
E21G |
probably damaging |
Het |
| Ankk1 |
T |
C |
9: 49,327,646 (GRCm39) |
Y511C |
probably benign |
Het |
| Atn1 |
G |
A |
6: 124,721,919 (GRCm39) |
|
probably benign |
Het |
| Ccnt2 |
C |
A |
1: 127,730,978 (GRCm39) |
S618R |
probably benign |
Het |
| Ces4a |
A |
G |
8: 105,876,010 (GRCm39) |
N517S |
possibly damaging |
Het |
| Chd4 |
C |
A |
6: 125,086,389 (GRCm39) |
T963K |
probably damaging |
Het |
| Crlf1 |
A |
G |
8: 70,953,824 (GRCm39) |
Y310C |
probably damaging |
Het |
| Cyyr1 |
A |
G |
16: 85,254,438 (GRCm39) |
Y155H |
probably benign |
Het |
| Dnah3 |
A |
T |
7: 119,660,179 (GRCm39) |
I831N |
probably benign |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Echdc1 |
A |
G |
10: 29,189,711 (GRCm39) |
I17V |
probably benign |
Het |
| Ephx4 |
G |
T |
5: 107,560,931 (GRCm39) |
V28F |
probably damaging |
Het |
| Erich6 |
A |
G |
3: 58,523,921 (GRCm39) |
I651T |
probably damaging |
Het |
| Fbln7 |
A |
G |
2: 128,719,296 (GRCm39) |
Q31R |
possibly damaging |
Het |
| Fbxl17 |
A |
G |
17: 63,794,783 (GRCm39) |
V433A |
probably damaging |
Het |
| Gm20449 |
T |
C |
7: 41,108,253 (GRCm39) |
E39G |
unknown |
Het |
| Gprc5b |
G |
A |
7: 118,583,296 (GRCm39) |
P191L |
probably benign |
Het |
| Klhl1 |
T |
C |
14: 96,360,658 (GRCm39) |
T731A |
possibly damaging |
Het |
| Myo3b |
A |
G |
2: 70,062,829 (GRCm39) |
D371G |
possibly damaging |
Het |
| Or10n1 |
G |
A |
9: 39,525,378 (GRCm39) |
V172M |
probably damaging |
Het |
| P4ha3 |
G |
T |
7: 99,954,851 (GRCm39) |
C303F |
probably damaging |
Het |
| Parp10 |
C |
A |
15: 76,124,308 (GRCm39) |
V782L |
possibly damaging |
Het |
| Prpf40a |
A |
G |
2: 53,041,763 (GRCm39) |
S501P |
probably damaging |
Het |
| Ptpn3 |
A |
T |
4: 57,265,104 (GRCm39) |
|
probably null |
Het |
| Ptprz1 |
A |
C |
6: 23,002,500 (GRCm39) |
H1530P |
probably benign |
Het |
| Rasa4 |
A |
G |
5: 136,132,801 (GRCm39) |
K18E |
probably damaging |
Het |
| Rit1 |
A |
G |
3: 88,624,945 (GRCm39) |
E48G |
probably damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rspo3 |
C |
T |
10: 29,330,277 (GRCm39) |
R228K |
unknown |
Het |
| Scai |
A |
T |
2: 38,965,147 (GRCm39) |
S566T |
probably benign |
Het |
| Scn4a |
T |
C |
11: 106,218,899 (GRCm39) |
E973G |
probably benign |
Het |
| Slc15a3 |
T |
A |
19: 10,826,046 (GRCm39) |
F246I |
possibly damaging |
Het |
| Stfa3 |
T |
C |
16: 36,275,647 (GRCm39) |
D27G |
possibly damaging |
Het |
| Urb1 |
T |
C |
16: 90,607,156 (GRCm39) |
T25A |
probably benign |
Het |
| Zbtb43 |
G |
T |
2: 33,345,066 (GRCm39) |
S16Y |
probably damaging |
Het |
| Zyg11b |
G |
A |
4: 108,093,286 (GRCm39) |
A717V |
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 |
|
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 |
|
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'- TCATAAGCAAGCGGGACACTG -3'
(R):5'- CTTCACAAATAGCATGACAATGTGC -3'
Sequencing Primer
(F):5'- CCACACAGGTTAAAGCAG -3'
(R):5'- GAGTGCCTCTGATGCCAACATTTG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation