Incidental Mutation 'R2907:Uba3'
ID |
261688 |
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 |
040494-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2907 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
97160631-97182608 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 97180514 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 21
(E21G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130954
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089287]
[ENSMUST00000164744]
[ENSMUST00000204056]
|
AlphaFold |
Q8C878 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000089287
AA Change: E35G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000086701 Gene: ENSMUSG00000030061 AA Change: E35G
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 benign
Transcript: ENSMUST00000164744
AA Change: E21G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000130954 Gene: ENSMUSG00000030061 AA Change: E21G
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 |
noncoding transcript
Transcript: ENSMUST00000203215
|
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204391
|
Meta Mutation Damage Score |
0.0631 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
Validation Efficiency |
97% (37/38) |
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actl6b |
A |
G |
5: 137,565,559 (GRCm39) |
E385G |
probably damaging |
Het |
Adam32 |
A |
T |
8: 25,353,520 (GRCm39) |
W690R |
probably damaging |
Het |
Ap1b1 |
T |
A |
11: 4,981,641 (GRCm39) |
N516K |
probably damaging |
Het |
Arap3 |
G |
A |
18: 38,123,580 (GRCm39) |
P452L |
possibly damaging |
Het |
Armcx6 |
A |
T |
X: 133,650,199 (GRCm39) |
C211S |
probably damaging |
Het |
Asns |
A |
G |
6: 7,675,506 (GRCm39) |
S499P |
probably benign |
Het |
Aspn |
G |
T |
13: 49,705,374 (GRCm39) |
V79F |
probably damaging |
Het |
Astn2 |
A |
G |
4: 65,563,093 (GRCm39) |
I844T |
possibly damaging |
Het |
Asxl3 |
A |
T |
18: 22,650,330 (GRCm39) |
H773L |
possibly damaging |
Het |
Atp7b |
G |
A |
8: 22,501,570 (GRCm39) |
T781I |
probably damaging |
Het |
Bcl6 |
G |
A |
16: 23,786,869 (GRCm39) |
R641W |
probably damaging |
Het |
Csmd3 |
T |
A |
15: 47,874,449 (GRCm39) |
I612F |
probably damaging |
Het |
Dnm1l |
A |
T |
16: 16,132,175 (GRCm39) |
S666T |
probably damaging |
Het |
Gucy2c |
A |
T |
6: 136,685,385 (GRCm39) |
V852E |
probably damaging |
Het |
H2-T3 |
G |
A |
17: 36,498,347 (GRCm39) |
R233C |
possibly damaging |
Het |
Igfbp4 |
A |
G |
11: 98,932,377 (GRCm39) |
|
probably benign |
Het |
Igkv16-104 |
T |
C |
6: 68,402,911 (GRCm39) |
I68T |
probably damaging |
Het |
Kansl1 |
T |
A |
11: 104,315,286 (GRCm39) |
S251C |
possibly damaging |
Het |
Kcnk1 |
G |
T |
8: 126,722,538 (GRCm39) |
V114L |
probably benign |
Het |
Klra3 |
G |
T |
6: 130,310,302 (GRCm39) |
Q73K |
probably damaging |
Het |
Mcpt1 |
T |
C |
14: 56,257,580 (GRCm39) |
V242A |
probably damaging |
Het |
Nek10 |
C |
A |
14: 14,980,613 (GRCm38) |
Q990K |
possibly damaging |
Het |
Nlrp4d |
A |
T |
7: 10,112,354 (GRCm39) |
V605E |
probably benign |
Het |
Or10w1 |
C |
T |
19: 13,632,611 (GRCm39) |
P268S |
possibly damaging |
Het |
Or5an1b |
T |
C |
19: 12,300,032 (GRCm39) |
D53G |
probably damaging |
Het |
Or5d46 |
T |
C |
2: 88,170,827 (GRCm39) |
I306T |
probably benign |
Het |
Osbpl1a |
A |
G |
18: 13,004,129 (GRCm39) |
|
probably benign |
Het |
Otud4 |
T |
A |
8: 80,399,697 (GRCm39) |
S803T |
probably benign |
Het |
Pax9 |
C |
T |
12: 56,756,529 (GRCm39) |
T289I |
probably benign |
Het |
Pcdha5 |
A |
C |
18: 37,093,868 (GRCm39) |
I126L |
possibly damaging |
Het |
Psmd4 |
G |
T |
3: 94,941,273 (GRCm39) |
A55E |
probably damaging |
Het |
Rab36 |
G |
A |
10: 74,880,328 (GRCm39) |
V63I |
probably damaging |
Het |
Rbm26 |
T |
A |
14: 105,380,270 (GRCm39) |
T516S |
probably benign |
Het |
Sdr42e1 |
G |
A |
8: 118,389,511 (GRCm39) |
L377F |
probably damaging |
Het |
Setdb1 |
T |
C |
3: 95,234,512 (GRCm39) |
|
probably benign |
Het |
Uggt2 |
C |
T |
14: 119,256,919 (GRCm39) |
S1105N |
probably benign |
Het |
Zfp113 |
T |
C |
5: 138,143,219 (GRCm39) |
N344D |
probably benign |
Het |
Zfp738 |
T |
C |
13: 67,818,231 (GRCm39) |
I587V |
probably benign |
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 |
|
R0780:Uba3
|
UTSW |
6 |
97,163,666 (GRCm39) |
nonsense |
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 |
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'- CTTCAGGGCTACAAACAGGG -3'
(R):5'- AGTGCTTCCCCATACCAGAC -3'
Sequencing Primer
(F):5'- GCTACAAACAGGGAAATATGTCTTAG -3'
(R):5'- TGGGAAAATAGAACCACAACTCAG -3'
|
Posted On |
2015-01-23 |