Incidental Mutation 'R9503:Ube2j1'
ID |
717698 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ube2j1
|
Ensembl Gene |
ENSMUSG00000028277 |
Gene Name |
ubiquitin-conjugating enzyme E2J 1 |
Synonyms |
0710008M05Rik, Ncube, 1110030I22Rik, Ubc6p |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9503 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
33031416-33052363 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 33049781 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 260
(Q260*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118333
(fasta)
|
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 null
Transcript: ENSMUST00000124992
AA Change: Q260*
|
SMART Domains |
Protein: ENSMUSP00000118333 Gene: ENSMUSG00000028277 AA Change: Q260*
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 null
Transcript: ENSMUST00000135924
AA Change: Q203*
|
SMART Domains |
Protein: ENSMUSP00000115757 Gene: ENSMUSG00000028277 AA Change: Q203*
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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
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: 23 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahnak |
T |
A |
19: 8,987,458 (GRCm39) |
V2914E |
probably damaging |
Het |
Bcan |
G |
A |
3: 87,900,748 (GRCm39) |
P495L |
probably benign |
Het |
Bnip3l |
G |
A |
14: 67,246,214 (GRCm39) |
P7L |
possibly damaging |
Het |
Cc2d2b |
C |
T |
19: 40,804,275 (GRCm39) |
T934M |
unknown |
Het |
Ciao1 |
T |
C |
2: 127,084,916 (GRCm39) |
D274G |
probably damaging |
Het |
Cpne9 |
G |
T |
6: 113,271,732 (GRCm39) |
R364L |
possibly damaging |
Het |
D6Ertd527e |
G |
C |
6: 87,088,839 (GRCm39) |
S334T |
unknown |
Het |
Fbn2 |
T |
C |
18: 58,171,313 (GRCm39) |
Y2150C |
probably damaging |
Het |
Hdac4 |
A |
T |
1: 91,929,956 (GRCm39) |
F177I |
probably damaging |
Het |
Lama2 |
A |
G |
10: 26,865,440 (GRCm39) |
V2906A |
possibly damaging |
Het |
Mpp2 |
T |
C |
11: 101,955,468 (GRCm39) |
D94G |
probably benign |
Het |
Nudt14 |
A |
G |
12: 112,898,566 (GRCm39) |
L178P |
probably damaging |
Het |
Or14a258 |
C |
T |
7: 86,035,228 (GRCm39) |
M213I |
probably benign |
Het |
Pcnt |
A |
G |
10: 76,263,882 (GRCm39) |
W361R |
possibly damaging |
Het |
Pcnx4 |
G |
T |
12: 72,588,561 (GRCm39) |
S123I |
probably damaging |
Het |
Pnp |
A |
G |
14: 51,188,423 (GRCm39) |
N199S |
probably benign |
Het |
Prr12 |
G |
T |
7: 44,693,020 (GRCm39) |
P1504Q |
unknown |
Het |
Pus7l |
T |
A |
15: 94,438,666 (GRCm39) |
I60L |
probably benign |
Het |
Strn3 |
A |
T |
12: 51,656,894 (GRCm39) |
F795I |
possibly damaging |
Het |
Stxbp3 |
A |
G |
3: 108,710,911 (GRCm39) |
L327P |
probably damaging |
Het |
Themis2 |
A |
G |
4: 132,510,657 (GRCm39) |
|
probably null |
Het |
Unc93b1 |
A |
G |
19: 3,986,373 (GRCm39) |
I136V |
possibly damaging |
Het |
Usp9y |
T |
A |
Y: 1,316,045 (GRCm39) |
Q2030L |
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 |
|
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 |
R9542:Ube2j1
|
UTSW |
4 |
33,040,793 (GRCm39) |
nonsense |
probably null |
|
X0024:Ube2j1
|
UTSW |
4 |
33,049,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGTCTCCGAATTCAGATGGTTCTAG -3'
(R):5'- CTGAGTCACAGCTCTTAAGTCAC -3'
Sequencing Primer
(F):5'- TCAGATGGTTCTAGTTAAATTTGCC -3'
(R):5'- GAGTCACAGCTCTTAAGTCACAAACC -3'
|
Posted On |
2022-07-18 |