Incidental Mutation 'R0780:Uba3'
| ID |
76581 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Uba3
|
| Ensembl Gene |
ENSMUSG00000030061 |
| Gene Name |
ubiquitin-like modifier activating enzyme 3 |
| Synonyms |
A830034N06Rik, ubiquitin activating enzyme 3, Ube1c |
| MMRRC Submission |
038960-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0780 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
97160631-97182608 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 97163666 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 294
(R294*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130954
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089287]
[ENSMUST00000164744]
[ENSMUST00000204056]
|
| AlphaFold |
Q8C878 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000089287
AA Change: R308*
|
| SMART Domains |
Protein: ENSMUSP00000086701
Gene: ENSMUSG00000030061
AA Change: R308*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
21 |
N/A |
INTRINSIC |
|
Pfam:ThiF
|
53 |
369 |
2.6e-69 |
PFAM |
|
E2_bind
|
374 |
462 |
1.02e-40 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000164744
AA Change: R294*
|
| SMART Domains |
Protein: ENSMUSP00000130954
Gene: ENSMUSG00000030061
AA Change: R294*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ThiF
|
54 |
199 |
1.5e-41 |
PFAM |
|
Pfam:UBA_e1_thiolCys
|
202 |
248 |
8.7e-15 |
PFAM |
|
Pfam:UBACT
|
255 |
321 |
9e-25 |
PFAM |
|
E2_bind
|
360 |
448 |
1.02e-40 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204056
|
| SMART Domains |
Protein: ENSMUSP00000145309
Gene: ENSMUSG00000030061
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
56 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 94.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: The protein encoded by this gene is the catalytic subunit of the enzyme that activates NEDD8, a ubiquitin-like molecule that binds to its target proteins through an enzymatic reaction analagous to ubiquitylation. Embryonic mice deficient for this protein die prior to implantation and display apoptosis of the inner cell mass. Trophoblastic cells cannot enter S phase, demonstrating that this gene is required for cell cycle progression during embryogenesis. Two pseudogenes have been found for this gene. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2014]
PHENOTYPE: Homozygous null mutants die at the peri-implantation stage. Mutants exhibit selective apoptosis of the inner cell mass but not of trophoblastic cells. Moreover, the trophoblastic cells fail to enter the S phase of the endoreduplication cycle. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ache |
C |
T |
5: 137,288,794 (GRCm39) |
R167C |
probably damaging |
Het |
| Ahsa1 |
T |
C |
12: 87,315,102 (GRCm39) |
I85T |
probably benign |
Het |
| Btaf1 |
T |
C |
19: 36,966,322 (GRCm39) |
L1030S |
probably damaging |
Het |
| Ccdc163 |
A |
G |
4: 116,569,604 (GRCm39) |
K222E |
probably benign |
Het |
| Cpsf1 |
A |
G |
15: 76,484,577 (GRCm39) |
F635L |
probably benign |
Het |
| Cubn |
G |
A |
2: 13,461,424 (GRCm39) |
T701M |
probably damaging |
Het |
| Cxcr2 |
T |
A |
1: 74,198,334 (GRCm39) |
M276K |
probably damaging |
Het |
| Daam1 |
T |
A |
12: 71,993,824 (GRCm39) |
I409K |
unknown |
Het |
| Dnah10 |
G |
T |
5: 124,827,876 (GRCm39) |
G741W |
possibly damaging |
Het |
| Ica1l |
A |
G |
1: 60,036,608 (GRCm39) |
|
probably null |
Het |
| Ifi208 |
A |
G |
1: 173,510,262 (GRCm39) |
D139G |
probably benign |
Het |
| Kat2b |
T |
A |
17: 53,874,476 (GRCm39) |
V40E |
unknown |
Het |
| Kmt2d |
G |
T |
15: 98,760,738 (GRCm39) |
P871T |
unknown |
Het |
| Lats2 |
A |
T |
14: 57,928,753 (GRCm39) |
Y1041N |
probably damaging |
Het |
| Lifr |
C |
T |
15: 7,206,947 (GRCm39) |
T486I |
probably benign |
Het |
| Mtmr4 |
T |
A |
11: 87,502,266 (GRCm39) |
D773E |
probably benign |
Het |
| Ptgds |
A |
G |
2: 25,358,104 (GRCm39) |
F143S |
possibly damaging |
Het |
| Rp1l1 |
A |
G |
14: 64,267,800 (GRCm39) |
S1129G |
possibly damaging |
Het |
| Sdk2 |
A |
G |
11: 113,784,334 (GRCm39) |
V135A |
probably benign |
Het |
| Slc12a8 |
G |
A |
16: 33,467,035 (GRCm39) |
|
probably null |
Het |
| Thsd7a |
A |
G |
6: 12,337,273 (GRCm39) |
V1248A |
probably damaging |
Het |
| Tpr |
T |
A |
1: 150,307,092 (GRCm39) |
H1562Q |
probably benign |
Het |
| Vmn2r22 |
A |
T |
6: 123,614,933 (GRCm39) |
V219E |
probably damaging |
Het |
| Zfand6 |
T |
A |
7: 84,265,042 (GRCm39) |
I220F |
probably damaging |
Het |
|
| Other mutations in Uba3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0295:Uba3
|
UTSW |
6 |
97,168,544 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R0554:Uba3
|
UTSW |
6 |
97,168,221 (GRCm39) |
splice site |
probably null |
|
|
R1572:Uba3
|
UTSW |
6 |
97,162,298 (GRCm39) |
splice site |
probably benign |
|
|
R1759:Uba3
|
UTSW |
6 |
97,173,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1806:Uba3
|
UTSW |
6 |
97,176,230 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2076:Uba3
|
UTSW |
6 |
97,176,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2907:Uba3
|
UTSW |
6 |
97,180,514 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3237:Uba3
|
UTSW |
6 |
97,163,201 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5238:Uba3
|
UTSW |
6 |
97,178,896 (GRCm39) |
nonsense |
probably null |
|
|
R6293:Uba3
|
UTSW |
6 |
97,173,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7198:Uba3
|
UTSW |
6 |
97,182,512 (GRCm39) |
start codon destroyed |
probably null |
0.02 |
|
R8066:Uba3
|
UTSW |
6 |
97,178,882 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8087:Uba3
|
UTSW |
6 |
97,162,344 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R9016:Uba3
|
UTSW |
6 |
97,162,694 (GRCm39) |
nonsense |
probably null |
|
|
R9100:Uba3
|
UTSW |
6 |
97,163,671 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9356:Uba3
|
UTSW |
6 |
97,161,811 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9459:Uba3
|
UTSW |
6 |
97,166,559 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9582:Uba3
|
UTSW |
6 |
97,168,491 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9801:Uba3
|
UTSW |
6 |
97,162,635 (GRCm39) |
missense |
probably benign |
0.42 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACCTTCATTGGATCAATGCAACGC -3'
(R):5'- CTGTTGCTTACGATTTCAGCACTGC -3'
Sequencing Primer
(F):5'- ACTGTGAGCACTGTGTCTAAGAG -3'
(R):5'- AGCTGGAAAGATGGCTTTGC -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation