Incidental Mutation 'R6663:Ube2j1'
| ID |
526864 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ube2j1
|
| Ensembl Gene |
ENSMUSG00000028277 |
| Gene Name |
ubiquitin-conjugating enzyme E2J 1 |
| Synonyms |
0710008M05Rik, Ncube, 1110030I22Rik, Ubc6p |
| MMRRC Submission |
044783-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6663 (G1)
|
| Quality Score |
127.008 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
33031416-33052363 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 33045198 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Leucine
at position 157
(S157L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029944
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029944]
[ENSMUST00000124992]
|
| AlphaFold |
Q9JJZ4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029944
AA Change: S157L
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000029944
Gene: ENSMUSG00000028277
AA Change: S157L
| 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: S226L
PolyPhen 2
Score 0.262 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000118333
Gene: ENSMUSG00000028277
AA Change: S226L
| 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 |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.9%
- 20x: 94.0%
|
| Validation Efficiency |
100% (32/32) |
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd17 |
A |
G |
5: 90,411,923 (GRCm39) |
S1314P |
probably damaging |
Het |
| Btbd3 |
T |
A |
2: 138,121,003 (GRCm39) |
I59K |
probably benign |
Het |
| Clcn2 |
A |
G |
16: 20,521,995 (GRCm39) |
*865R |
probably null |
Het |
| Col22a1 |
T |
C |
15: 71,691,908 (GRCm39) |
Q749R |
unknown |
Het |
| Cpsf2 |
T |
C |
12: 101,965,852 (GRCm39) |
Y606H |
probably damaging |
Het |
| Csn1s1 |
T |
C |
5: 87,823,599 (GRCm39) |
V154A |
probably benign |
Het |
| Cux1 |
T |
A |
5: 136,514,701 (GRCm39) |
E23V |
probably damaging |
Het |
| Cyp2j9 |
C |
A |
4: 96,467,679 (GRCm39) |
W269L |
probably benign |
Het |
| Dbf4 |
T |
C |
5: 8,453,184 (GRCm39) |
M273V |
probably benign |
Het |
| Dnhd1 |
A |
G |
7: 105,334,899 (GRCm39) |
|
probably null |
Het |
| Fezf1 |
A |
G |
6: 23,247,527 (GRCm39) |
S183P |
probably damaging |
Het |
| Irx2 |
A |
G |
13: 72,777,248 (GRCm39) |
Y23C |
probably damaging |
Het |
| Itga1 |
A |
T |
13: 115,110,641 (GRCm39) |
N983K |
probably benign |
Het |
| Kifc1 |
A |
G |
17: 34,100,430 (GRCm39) |
|
probably benign |
Het |
| Lrrc14b |
T |
C |
13: 74,509,480 (GRCm39) |
N309S |
probably damaging |
Het |
| Lyst |
A |
T |
13: 13,838,701 (GRCm39) |
|
probably null |
Het |
| Map1b |
T |
C |
13: 99,566,530 (GRCm39) |
T2064A |
unknown |
Het |
| Mark3 |
T |
A |
12: 111,541,517 (GRCm39) |
N11K |
probably benign |
Het |
| Med6 |
T |
A |
12: 81,628,649 (GRCm39) |
D80V |
possibly damaging |
Het |
| Mfhas1 |
A |
G |
8: 36,056,272 (GRCm39) |
E249G |
probably damaging |
Het |
| Mroh2b |
A |
G |
15: 4,977,417 (GRCm39) |
I1256M |
probably benign |
Het |
| Nkx2-9 |
G |
T |
12: 56,658,723 (GRCm39) |
R164S |
probably benign |
Het |
| Or4p20 |
T |
A |
2: 88,253,694 (GRCm39) |
N225I |
probably benign |
Het |
| Phf10 |
T |
C |
17: 15,179,774 (GRCm39) |
D33G |
probably null |
Het |
| Plekha5 |
A |
G |
6: 140,523,016 (GRCm39) |
M719V |
probably damaging |
Het |
| Pln |
A |
G |
10: 53,219,792 (GRCm39) |
|
probably benign |
Het |
| Prg4 |
G |
A |
1: 150,330,852 (GRCm39) |
|
probably benign |
Het |
| Slc35b3 |
A |
G |
13: 39,138,112 (GRCm39) |
L99P |
probably damaging |
Het |
| Tbccd1 |
AT |
ATGT |
16: 22,652,778 (GRCm39) |
|
probably null |
Het |
| Zfp462 |
A |
G |
4: 55,008,933 (GRCm39) |
T300A |
possibly damaging |
Het |
| Zfp668 |
G |
A |
7: 127,466,941 (GRCm39) |
R212C |
probably damaging |
Het |
| Zup1 |
A |
G |
10: 33,825,431 (GRCm39) |
M17T |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGAGGGAGTTAGCTGATTGTTAAC -3'
(R):5'- GCAGCTGGGCTAAAATCCTAC -3'
Sequencing Primer
(F):5'- CACAGTTCTTATAACACTGCTCTTGG -3'
(R):5'- GCTGGGCTAAAATCCTACTACTAAG -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation