Incidental Mutation 'IGL01800:Ube2j1'
ID |
155495 |
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 # |
IGL01800
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
33031416-33052363 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 33045115 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 129
(E129D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029944
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029944]
[ENSMUST00000124992]
|
AlphaFold |
Q9JJZ4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000029944
AA Change: E129D
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000029944 Gene: ENSMUSG00000028277 AA Change: E129D
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
AA Change: E198D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000118333 Gene: ENSMUSG00000028277 AA Change: E198D
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc2 |
A |
G |
19: 43,772,734 (GRCm39) |
Y48C |
possibly damaging |
Het |
Acsm3 |
T |
C |
7: 119,373,866 (GRCm39) |
S251P |
possibly damaging |
Het |
Ano5 |
G |
A |
7: 51,222,823 (GRCm39) |
|
probably null |
Het |
Ccdc65 |
C |
T |
15: 98,606,946 (GRCm39) |
A51V |
probably benign |
Het |
Cspg5 |
A |
G |
9: 110,080,218 (GRCm39) |
|
probably benign |
Het |
Dhx30 |
A |
G |
9: 109,914,581 (GRCm39) |
V935A |
possibly damaging |
Het |
Disp3 |
T |
A |
4: 148,334,258 (GRCm39) |
K1012* |
probably null |
Het |
Dock2 |
T |
C |
11: 34,647,100 (GRCm39) |
N18S |
probably damaging |
Het |
Dst |
A |
T |
1: 34,301,173 (GRCm39) |
I1180F |
probably damaging |
Het |
Elp2 |
A |
G |
18: 24,750,548 (GRCm39) |
Y295C |
probably benign |
Het |
Eml2 |
A |
G |
7: 18,935,122 (GRCm39) |
|
probably benign |
Het |
Fat4 |
A |
G |
3: 39,035,878 (GRCm39) |
T3177A |
probably damaging |
Het |
Flrt2 |
A |
T |
12: 95,746,462 (GRCm39) |
I267F |
probably damaging |
Het |
Gm5611 |
T |
G |
9: 16,941,767 (GRCm39) |
|
noncoding transcript |
Het |
Gstcd |
A |
G |
3: 132,790,335 (GRCm39) |
|
probably null |
Het |
Gucy1b2 |
T |
C |
14: 62,649,104 (GRCm39) |
M476V |
probably benign |
Het |
Jak2 |
A |
G |
19: 29,263,693 (GRCm39) |
|
probably benign |
Het |
Kcnt1 |
T |
C |
2: 25,778,137 (GRCm39) |
F85S |
probably damaging |
Het |
Kcnu1 |
G |
A |
8: 26,427,528 (GRCm39) |
V282M |
probably damaging |
Het |
Lancl1 |
T |
G |
1: 67,060,029 (GRCm39) |
E132A |
probably benign |
Het |
Or4g7 |
T |
C |
2: 111,309,209 (GRCm39) |
F27L |
probably benign |
Het |
Or5b106 |
A |
G |
19: 13,123,993 (GRCm39) |
F10S |
probably damaging |
Het |
Pigm |
G |
A |
1: 172,204,770 (GRCm39) |
A169T |
probably damaging |
Het |
Ppargc1a |
A |
G |
5: 51,652,063 (GRCm39) |
Y212H |
probably damaging |
Het |
Ppp1r13l |
A |
T |
7: 19,111,936 (GRCm39) |
|
probably benign |
Het |
Pramel12 |
T |
C |
4: 143,145,650 (GRCm39) |
L373P |
probably damaging |
Het |
Rictor |
T |
C |
15: 6,804,182 (GRCm39) |
I554T |
probably damaging |
Het |
Sbno1 |
G |
A |
5: 124,519,568 (GRCm39) |
|
probably benign |
Het |
Sesn2 |
G |
T |
4: 132,226,418 (GRCm39) |
L194I |
probably damaging |
Het |
Slc26a2 |
A |
T |
18: 61,334,801 (GRCm39) |
Y217* |
probably null |
Het |
Sptbn5 |
G |
T |
2: 119,886,908 (GRCm39) |
|
probably benign |
Het |
Tmem184a |
A |
T |
5: 139,798,899 (GRCm39) |
S17T |
possibly damaging |
Het |
Trhr |
T |
C |
15: 44,092,603 (GRCm39) |
M280T |
possibly damaging |
Het |
Ube4b |
A |
T |
4: 149,415,951 (GRCm39) |
S3T |
probably damaging |
Het |
Vmn2r49 |
A |
T |
7: 9,710,601 (GRCm39) |
C710* |
probably null |
Het |
Vmn2r82 |
C |
T |
10: 79,192,581 (GRCm39) |
R53C |
probably benign |
Het |
Zdhhc2 |
T |
C |
8: 40,917,284 (GRCm39) |
L227P |
probably damaging |
Het |
Zfp995 |
A |
C |
17: 22,099,972 (GRCm39) |
H87Q |
possibly damaging |
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 |
|
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 |
2014-02-04 |