Incidental Mutation 'R3548:Ube2q1'
| ID |
268295 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ube2q1
|
| Ensembl Gene |
ENSMUSG00000042572 |
| Gene Name |
ubiquitin-conjugating enzyme E2Q family member 1 |
| Synonyms |
2310012M18Rik, PRO3094, 1110002C01Rik, NICE-5 |
| MMRRC Submission |
040667-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.308)
|
| Stock # |
R3548 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
89680923-89691307 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 89688383 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 183
(M183K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143422
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038356]
[ENSMUST00000196726]
|
| AlphaFold |
Q7TSS2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038356
AA Change: M352K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000037939
Gene: ENSMUSG00000042572
AA Change: M352K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
39 |
N/A |
INTRINSIC |
|
Blast:RWD
|
43 |
156 |
1e-42 |
BLAST |
|
low complexity region
|
183 |
202 |
N/A |
INTRINSIC |
|
Blast:UBCc
|
203 |
243 |
8e-13 |
BLAST |
|
UBCc
|
254 |
415 |
2.8e-8 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000196726
AA Change: M183K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143422
Gene: ENSMUSG00000042572
AA Change: M183K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
33 |
N/A |
INTRINSIC |
|
Blast:UBCc
|
34 |
74 |
1e-13 |
BLAST |
|
UBCc
|
85 |
246 |
2.8e-8 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199427
|
| Meta Mutation Damage Score |
0.8960 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 92.8%
|
| Validation Efficiency |
97% (35/36) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes (E1s), ubiquitin-conjugating enzymes (E2s), and ubiquitin-protein ligases (E3s). This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. The encoded protein is 98% identical to the mouse counterpart. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit female-specific pleiotropic reproductive defects and partial embryonic lethality at implantation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amph |
C |
A |
13: 19,287,129 (GRCm39) |
H279Q |
probably damaging |
Het |
| Ankrd28 |
A |
G |
14: 31,437,217 (GRCm39) |
L646S |
probably benign |
Het |
| Bmal1 |
A |
T |
7: 112,912,752 (GRCm39) |
I610F |
probably damaging |
Het |
| Celf3 |
T |
G |
3: 94,395,845 (GRCm39) |
C304G |
probably damaging |
Het |
| Chrnb2 |
T |
A |
3: 89,668,898 (GRCm39) |
Y139F |
probably benign |
Het |
| Clcc1 |
T |
A |
3: 108,575,429 (GRCm39) |
C169S |
probably benign |
Het |
| Clip1 |
A |
G |
5: 123,769,141 (GRCm39) |
L532P |
probably damaging |
Het |
| Cr2 |
A |
T |
1: 194,838,196 (GRCm39) |
C1089* |
probably null |
Het |
| Dnah10 |
A |
T |
5: 124,824,694 (GRCm39) |
I617F |
possibly damaging |
Het |
| F12 |
T |
C |
13: 55,565,950 (GRCm39) |
N132D |
probably benign |
Het |
| Fhit |
T |
C |
14: 9,870,095 (GRCm38) |
T125A |
probably benign |
Het |
| Frs3 |
T |
G |
17: 48,014,561 (GRCm39) |
I418S |
probably damaging |
Het |
| Gpr149 |
A |
T |
3: 62,502,549 (GRCm39) |
C436S |
probably benign |
Het |
| Igsf10 |
C |
A |
3: 59,243,935 (GRCm39) |
R133L |
probably damaging |
Het |
| Il17rb |
A |
G |
14: 29,730,729 (GRCm39) |
|
probably null |
Het |
| Kdm1b |
C |
T |
13: 47,216,553 (GRCm39) |
R308W |
probably damaging |
Het |
| Khdc4 |
A |
G |
3: 88,600,443 (GRCm39) |
|
probably benign |
Het |
| Mtus2 |
C |
A |
5: 148,232,316 (GRCm39) |
H120Q |
probably damaging |
Het |
| Muc6 |
G |
A |
7: 141,218,313 (GRCm39) |
S2120F |
possibly damaging |
Het |
| Ncf1 |
T |
A |
5: 134,255,463 (GRCm39) |
K143* |
probably null |
Het |
| Nes |
C |
A |
3: 87,880,429 (GRCm39) |
|
probably benign |
Het |
| Nid2 |
T |
A |
14: 19,813,779 (GRCm39) |
Y195N |
probably damaging |
Het |
| Nlrp9c |
A |
T |
7: 26,070,876 (GRCm39) |
C790S |
probably damaging |
Het |
| Or5b12 |
A |
T |
19: 12,897,031 (GRCm39) |
I214N |
probably benign |
Het |
| Phf24 |
T |
G |
4: 42,937,879 (GRCm39) |
Y85* |
probably null |
Het |
| Pycr1 |
T |
C |
11: 120,533,072 (GRCm39) |
S33G |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Sirt2 |
A |
G |
7: 28,467,096 (GRCm39) |
E19G |
probably damaging |
Het |
| Sort1 |
T |
C |
3: 108,245,225 (GRCm39) |
V359A |
possibly damaging |
Het |
| Tnni1 |
A |
G |
1: 135,732,791 (GRCm39) |
|
probably null |
Het |
| Vmn1r50 |
T |
A |
6: 90,084,476 (GRCm39) |
F74I |
probably damaging |
Het |
|
| Other mutations in Ube2q1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01299:Ube2q1
|
APN |
3 |
89,688,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02121:Ube2q1
|
APN |
3 |
89,687,769 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R0165:Ube2q1
|
UTSW |
3 |
89,683,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1680:Ube2q1
|
UTSW |
3 |
89,683,483 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2072:Ube2q1
|
UTSW |
3 |
89,686,878 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4932:Ube2q1
|
UTSW |
3 |
89,686,790 (GRCm39) |
nonsense |
probably null |
|
|
R5472:Ube2q1
|
UTSW |
3 |
89,684,548 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5902:Ube2q1
|
UTSW |
3 |
89,683,487 (GRCm39) |
nonsense |
probably null |
|
|
R6161:Ube2q1
|
UTSW |
3 |
89,688,667 (GRCm39) |
splice site |
probably null |
|
|
R7303:Ube2q1
|
UTSW |
3 |
89,683,898 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8490:Ube2q1
|
UTSW |
3 |
89,681,308 (GRCm39) |
missense |
probably benign |
|
|
R8671:Ube2q1
|
UTSW |
3 |
89,683,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9558:Ube2q1
|
UTSW |
3 |
89,686,766 (GRCm39) |
missense |
probably benign |
0.01 |
|
RF022:Ube2q1
|
UTSW |
3 |
89,688,200 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGATAACTTCCCCTTTGACCC -3'
(R):5'- AGAGGCTGCCTTTACAGAGG -3'
Sequencing Primer
(F):5'- TTGACCCACCGTTCGTCAGG -3'
(R):5'- TGCCTTTACAGAGGGGTCC -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation