Incidental Mutation 'IGL03368:Ube2j1'
| ID |
420166 |
| 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 # |
IGL03368
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
33031416-33052363 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 33038317 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 75
(I75N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118333
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029944]
[ENSMUST00000124992]
|
| AlphaFold |
Q9JJZ4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029944
AA Change: I6N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029944
Gene: ENSMUSG00000028277
AA Change: I6N
| 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 damaging
Transcript: ENSMUST00000124992
AA Change: I75N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118333
Gene: ENSMUSG00000028277
AA Change: I75N
| 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 |
unknown
Transcript: ENSMUST00000135924
AA Change: I58N
|
| SMART Domains |
Protein: ENSMUSP00000115757
Gene: ENSMUSG00000028277
AA Change: I58N
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A530053G22Rik |
T |
C |
6: 60,380,530 (GRCm39) |
|
noncoding transcript |
Het |
| Abca5 |
A |
G |
11: 110,204,348 (GRCm39) |
|
probably benign |
Het |
| Agxt2 |
T |
A |
15: 10,388,256 (GRCm39) |
C278* |
probably null |
Het |
| Ankar |
A |
G |
1: 72,714,972 (GRCm39) |
L384P |
probably damaging |
Het |
| Ankrd55 |
T |
C |
13: 112,455,090 (GRCm39) |
|
probably benign |
Het |
| Ap5m1 |
A |
G |
14: 49,318,593 (GRCm39) |
|
probably benign |
Het |
| Arhgap18 |
C |
T |
10: 26,648,689 (GRCm39) |
S37F |
possibly damaging |
Het |
| Btnl10 |
G |
A |
11: 58,810,212 (GRCm39) |
V118I |
possibly damaging |
Het |
| Chst11 |
C |
A |
10: 82,927,980 (GRCm39) |
P66T |
probably benign |
Het |
| Cited2 |
C |
A |
10: 17,599,944 (GRCm39) |
P84Q |
possibly damaging |
Het |
| Cplane1 |
T |
C |
15: 8,251,857 (GRCm39) |
V1914A |
probably benign |
Het |
| Dpy19l4 |
T |
A |
4: 11,290,253 (GRCm39) |
I302F |
possibly damaging |
Het |
| Ece2 |
A |
G |
16: 20,462,908 (GRCm39) |
E640G |
possibly damaging |
Het |
| Fam184b |
T |
C |
5: 45,689,166 (GRCm39) |
D890G |
possibly damaging |
Het |
| Fam227b |
A |
T |
2: 125,960,983 (GRCm39) |
D215E |
probably damaging |
Het |
| Foxp2 |
A |
G |
6: 15,394,717 (GRCm39) |
K139R |
probably damaging |
Het |
| Gle1 |
T |
C |
2: 29,833,805 (GRCm39) |
C401R |
probably damaging |
Het |
| Gp2 |
A |
T |
7: 119,052,097 (GRCm39) |
C206S |
probably damaging |
Het |
| Hdgfl2 |
G |
T |
17: 56,386,746 (GRCm39) |
|
probably benign |
Het |
| Hmcn1 |
T |
C |
1: 150,539,623 (GRCm39) |
N2956S |
probably damaging |
Het |
| Ifi209 |
A |
G |
1: 173,470,057 (GRCm39) |
Q215R |
possibly damaging |
Het |
| Il20rb |
C |
T |
9: 100,341,174 (GRCm39) |
|
probably benign |
Het |
| Katnip |
T |
C |
7: 125,468,030 (GRCm39) |
|
probably benign |
Het |
| Kif26b |
A |
C |
1: 178,743,773 (GRCm39) |
S1290R |
probably damaging |
Het |
| Mical1 |
A |
G |
10: 41,355,625 (GRCm39) |
I156M |
probably damaging |
Het |
| Nbas |
C |
T |
12: 13,378,452 (GRCm39) |
A613V |
probably benign |
Het |
| Nbea |
C |
T |
3: 55,987,351 (GRCm39) |
V380M |
probably damaging |
Het |
| Nutf2 |
T |
C |
8: 106,602,232 (GRCm39) |
F14S |
probably damaging |
Het |
| Or4c35 |
A |
T |
2: 89,808,133 (GRCm39) |
I4L |
probably benign |
Het |
| Or52r1b |
T |
A |
7: 102,690,972 (GRCm39) |
H95Q |
possibly damaging |
Het |
| Parp1 |
A |
G |
1: 180,408,187 (GRCm39) |
E236G |
probably benign |
Het |
| Podnl1 |
G |
A |
8: 84,858,818 (GRCm39) |
V548I |
probably benign |
Het |
| Ptcd2 |
T |
A |
13: 99,466,577 (GRCm39) |
|
probably benign |
Het |
| Pygl |
T |
C |
12: 70,237,926 (GRCm39) |
Q704R |
probably benign |
Het |
| Scaper |
A |
T |
9: 55,563,311 (GRCm39) |
S492T |
possibly damaging |
Het |
| Sephs1 |
G |
A |
2: 4,894,080 (GRCm39) |
D94N |
possibly damaging |
Het |
| Slc22a29 |
A |
C |
19: 8,184,626 (GRCm39) |
|
probably null |
Het |
| Slc22a8 |
G |
T |
19: 8,586,483 (GRCm39) |
|
probably benign |
Het |
| Slfn5 |
A |
G |
11: 82,847,211 (GRCm39) |
D32G |
possibly damaging |
Het |
| Sphkap |
T |
A |
1: 83,253,397 (GRCm39) |
T1451S |
probably benign |
Het |
| Srp54a |
A |
C |
12: 55,138,051 (GRCm39) |
E63A |
probably null |
Het |
| Stap1 |
T |
A |
5: 86,238,827 (GRCm39) |
I165N |
probably damaging |
Het |
| Terf2 |
T |
C |
8: 107,797,181 (GRCm39) |
E494G |
probably damaging |
Het |
| Trak1 |
C |
A |
9: 121,196,188 (GRCm39) |
L7I |
possibly damaging |
Het |
| Twnk |
T |
C |
19: 44,998,931 (GRCm39) |
V557A |
probably damaging |
Het |
| U2af2 |
T |
A |
7: 5,070,263 (GRCm39) |
|
probably benign |
Het |
| Ubr5 |
A |
G |
15: 37,998,560 (GRCm39) |
V1643A |
probably damaging |
Het |
| Vsx2 |
A |
G |
12: 84,617,074 (GRCm39) |
T120A |
probably benign |
Het |
|
| Other mutations in Ube2j1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01539:Ube2j1
|
APN |
4 |
33,043,993 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation