Incidental Mutation 'IGL01539:Ube2j1'
| ID |
90116 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ube2j1
|
| Ensembl Gene |
ENSMUSG00000028277 |
| Gene Name |
ubiquitin-conjugating enzyme E2J 1 |
| Synonyms |
0710008M05Rik, Ncube, 1110030I22Rik, Ubc6p |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01539
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
33031416-33052363 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 33043993 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029944]
[ENSMUST00000124992]
|
| AlphaFold |
Q9JJZ4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029944
|
| SMART Domains |
Protein: ENSMUSP00000029944
Gene: ENSMUSG00000028277
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2F4W|B
|
1 |
78 |
5e-17 |
PDB |
|
Blast:UBCc
|
1 |
116 |
4e-72 |
BLAST |
|
SCOP:d1c4zd_
|
2 |
50 |
1e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124992
|
| SMART Domains |
Protein: ENSMUSP00000118333
Gene: ENSMUSG00000028277
| Domain | Start | End | E-Value | Type |
|---|
|
UBCc
|
13 |
160 |
4.49e-30 |
SMART |
|
low complexity region
|
249 |
269 |
N/A |
INTRINSIC |
|
transmembrane domain
|
286 |
308 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135924
|
| SMART Domains |
Protein: ENSMUSP00000115757
Gene: ENSMUSG00000028277
| Domain | Start | End | E-Value | Type |
|---|
|
UBCc
|
1 |
144 |
8.08e-23 |
SMART |
|
low complexity region
|
193 |
213 |
N/A |
INTRINSIC |
|
transmembrane domain
|
230 |
252 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is located in the membrane of the endoplasmic reticulum (ER) and may contribute to quality control ER-associated degradation by the ubiquitin-proteasome system. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit partial postnatal lethality, decreased body size, and male infertility associated with defective spermiogenesis, teratozoospermia, and asthenozoospermia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Clca4b |
T |
A |
3: 144,631,918 (GRCm39) |
M196L |
probably benign |
Het |
| Cyp4a14 |
T |
C |
4: 115,344,374 (GRCm39) |
N497S |
possibly damaging |
Het |
| Eif3b |
T |
C |
5: 140,416,008 (GRCm39) |
|
probably benign |
Het |
| Grin2c |
T |
C |
11: 115,140,932 (GRCm39) |
Q1062R |
probably benign |
Het |
| Ina |
A |
G |
19: 47,003,903 (GRCm39) |
E237G |
probably damaging |
Het |
| Lmx1b |
T |
C |
2: 33,529,510 (GRCm39) |
D83G |
possibly damaging |
Het |
| Macf1 |
A |
G |
4: 123,289,701 (GRCm39) |
|
probably benign |
Het |
| Muc6 |
T |
A |
7: 141,236,306 (GRCm39) |
M406L |
probably benign |
Het |
| Myo15b |
T |
C |
11: 115,754,299 (GRCm39) |
I933T |
probably benign |
Het |
| Or4c121 |
A |
G |
2: 89,023,836 (GRCm39) |
F181L |
possibly damaging |
Het |
| Or6c204 |
T |
C |
10: 129,022,804 (GRCm39) |
N162S |
probably benign |
Het |
| Pde1b |
A |
T |
15: 103,433,772 (GRCm39) |
|
probably benign |
Het |
| Rab29 |
G |
A |
1: 131,798,445 (GRCm39) |
R75Q |
probably damaging |
Het |
| Scn10a |
A |
T |
9: 119,467,764 (GRCm39) |
I792N |
probably damaging |
Het |
| Serpinb6a |
A |
T |
13: 34,114,117 (GRCm39) |
V70D |
probably damaging |
Het |
| Slco1a7 |
A |
G |
6: 141,673,333 (GRCm39) |
S402P |
possibly damaging |
Het |
| Spart |
A |
G |
3: 55,024,723 (GRCm39) |
D106G |
possibly damaging |
Het |
| Sucla2 |
A |
G |
14: 73,828,561 (GRCm39) |
E359G |
probably damaging |
Het |
| Sycp2 |
T |
C |
2: 178,016,488 (GRCm39) |
Y658C |
probably damaging |
Het |
| Tenm2 |
T |
A |
11: 35,997,654 (GRCm39) |
T811S |
possibly damaging |
Het |
| Trim66 |
C |
A |
7: 109,054,273 (GRCm39) |
M1312I |
probably benign |
Het |
| Tspan18 |
A |
G |
2: 93,041,198 (GRCm39) |
S135P |
probably damaging |
Het |
| Ubr1 |
A |
C |
2: 120,756,494 (GRCm39) |
V711G |
possibly damaging |
Het |
| Veph1 |
T |
C |
3: 66,065,496 (GRCm39) |
T524A |
probably benign |
Het |
| Vmn1r222 |
A |
T |
13: 23,417,059 (GRCm39) |
F51L |
probably benign |
Het |
| Vwf |
G |
T |
6: 125,567,225 (GRCm39) |
V338L |
possibly damaging |
Het |
| Zfp770 |
G |
T |
2: 114,027,574 (GRCm39) |
A165E |
probably damaging |
Het |
|
| Other mutations in Ube2j1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01800:Ube2j1
|
APN |
4 |
33,045,115 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02707:Ube2j1
|
APN |
4 |
33,038,206 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL03368:Ube2j1
|
APN |
4 |
33,038,317 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0314:Ube2j1
|
UTSW |
4 |
33,043,991 (GRCm39) |
splice site |
probably benign |
|
|
R1575:Ube2j1
|
UTSW |
4 |
33,045,116 (GRCm39) |
missense |
probably benign |
0.23 |
|
R1714:Ube2j1
|
UTSW |
4 |
33,049,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2044:Ube2j1
|
UTSW |
4 |
33,049,696 (GRCm39) |
missense |
probably benign |
0.16 |
|
R2267:Ube2j1
|
UTSW |
4 |
33,049,943 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R2850:Ube2j1
|
UTSW |
4 |
33,049,696 (GRCm39) |
missense |
probably benign |
0.16 |
|
R3737:Ube2j1
|
UTSW |
4 |
33,036,723 (GRCm39) |
missense |
probably benign |
0.06 |
|
R3738:Ube2j1
|
UTSW |
4 |
33,036,723 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4354:Ube2j1
|
UTSW |
4 |
33,049,682 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5527:Ube2j1
|
UTSW |
4 |
33,045,164 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5554:Ube2j1
|
UTSW |
4 |
33,040,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6663:Ube2j1
|
UTSW |
4 |
33,045,198 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8122:Ube2j1
|
UTSW |
4 |
33,045,145 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9158:Ube2j1
|
UTSW |
4 |
33,036,711 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9168:Ube2j1
|
UTSW |
4 |
33,045,111 (GRCm39) |
missense |
probably benign |
|
|
R9255:Ube2j1
|
UTSW |
4 |
33,036,759 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9503:Ube2j1
|
UTSW |
4 |
33,049,781 (GRCm39) |
nonsense |
probably null |
|
|
R9542:Ube2j1
|
UTSW |
4 |
33,040,793 (GRCm39) |
nonsense |
probably null |
|
|
X0024:Ube2j1
|
UTSW |
4 |
33,049,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-12-03 |
Incidental Mutation