Incidental Mutation 'R6594:Ube2m'
ID |
524769 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ube2m
|
Ensembl Gene |
ENSMUSG00000005575 |
Gene Name |
ubiquitin-conjugating enzyme E2M |
Synonyms |
Ubc-rs2, UBC12, 2510040H03Rik |
MMRRC Submission |
044718-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6594 (G1)
|
Quality Score |
119.008 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
12769047-12772202 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to A
at 12771617 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Stop codon
at position 14
(E14*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000005714
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005711]
[ENSMUST00000005714]
[ENSMUST00000069289]
[ENSMUST00000125964]
[ENSMUST00000165394]
[ENSMUST00000211369]
[ENSMUST00000211626]
[ENSMUST00000210587]
[ENSMUST00000211344]
[ENSMUST00000182515]
|
AlphaFold |
P61082 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000005711
|
SMART Domains |
Protein: ENSMUSP00000005711 Gene: ENSMUSG00000033916
Domain | Start | End | E-Value | Type |
Pfam:Snf7
|
17 |
187 |
9.5e-50 |
PFAM |
coiled coil region
|
196 |
222 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000005714
AA Change: E14*
|
SMART Domains |
Protein: ENSMUSP00000005714 Gene: ENSMUSG00000005575 AA Change: E14*
Domain | Start | End | E-Value | Type |
UBCc
|
32 |
173 |
8.83e-38 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000069289
|
SMART Domains |
Protein: ENSMUSP00000069122 Gene: ENSMUSG00000030380
Domain | Start | End | E-Value | Type |
low complexity region
|
24 |
34 |
N/A |
INTRINSIC |
SCAN
|
41 |
153 |
1.18e-70 |
SMART |
ZnF_C2H2
|
357 |
379 |
4.87e-4 |
SMART |
ZnF_C2H2
|
385 |
407 |
1.95e-3 |
SMART |
ZnF_C2H2
|
413 |
435 |
1.18e-2 |
SMART |
ZnF_C2H2
|
441 |
463 |
8.6e-5 |
SMART |
ZnF_C2H2
|
486 |
508 |
1.79e-2 |
SMART |
ZnF_C2H2
|
514 |
536 |
7.15e-2 |
SMART |
ZnF_C2H2
|
542 |
564 |
8.47e-4 |
SMART |
ZnF_C2H2
|
570 |
592 |
2.79e-4 |
SMART |
ZnF_C2H2
|
598 |
620 |
1.6e-4 |
SMART |
ZnF_C2H2
|
626 |
648 |
1.67e-2 |
SMART |
ZnF_C2H2
|
654 |
676 |
3.44e-4 |
SMART |
ZnF_C2H2
|
682 |
704 |
2.84e-5 |
SMART |
ZnF_C2H2
|
710 |
732 |
2.4e-3 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000123541
|
SMART Domains |
Protein: ENSMUSP00000120234 Gene: ENSMUSG00000005575
Domain | Start | End | E-Value | Type |
UBCc
|
1 |
162 |
2.43e-17 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000125964
|
SMART Domains |
Protein: ENSMUSP00000122638 Gene: ENSMUSG00000005575
Domain | Start | End | E-Value | Type |
UBCc
|
20 |
161 |
3.67e-35 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126827
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131837
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000165394
|
SMART Domains |
Protein: ENSMUSP00000132604 Gene: ENSMUSG00000005575
Domain | Start | End | E-Value | Type |
UBCc
|
2 |
76 |
4.51e-2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211369
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156389
|
SMART Domains |
Protein: ENSMUSP00000117123 Gene: ENSMUSG00000005575
Domain | Start | End | E-Value | Type |
PDB:2NVU|C
|
69 |
138 |
4e-38 |
PDB |
SCOP:d2e2c__
|
83 |
136 |
2e-8 |
SMART |
Blast:UBCc
|
92 |
138 |
4e-27 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211626
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138357
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209487
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000210587
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211344
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182515
|
SMART Domains |
Protein: ENSMUSP00000138387 Gene: ENSMUSG00000030380
Domain | Start | End | E-Value | Type |
low complexity region
|
24 |
34 |
N/A |
INTRINSIC |
SCAN
|
41 |
153 |
1.18e-70 |
SMART |
ZnF_C2H2
|
357 |
379 |
4.87e-4 |
SMART |
ZnF_C2H2
|
385 |
407 |
1.95e-3 |
SMART |
ZnF_C2H2
|
413 |
435 |
1.18e-2 |
SMART |
ZnF_C2H2
|
441 |
463 |
8.6e-5 |
SMART |
ZnF_C2H2
|
486 |
508 |
1.79e-2 |
SMART |
ZnF_C2H2
|
514 |
536 |
7.15e-2 |
SMART |
ZnF_C2H2
|
542 |
564 |
8.47e-4 |
SMART |
ZnF_C2H2
|
570 |
592 |
2.79e-4 |
SMART |
ZnF_C2H2
|
598 |
620 |
1.6e-4 |
SMART |
ZnF_C2H2
|
626 |
648 |
1.67e-2 |
SMART |
ZnF_C2H2
|
654 |
676 |
3.44e-4 |
SMART |
ZnF_C2H2
|
682 |
704 |
2.84e-5 |
SMART |
ZnF_C2H2
|
710 |
732 |
2.4e-3 |
SMART |
|
Meta Mutation Damage Score |
0.9717 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.9%
|
Validation Efficiency |
96% (52/54) |
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. The encoded protein is linked with a ubiquitin-like protein, NEDD8, which can be conjugated to cellular proteins, such as Cdc53/culin. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aass |
T |
C |
6: 23,113,432 (GRCm39) |
N296S |
probably benign |
Het |
Abca13 |
A |
T |
11: 9,244,632 (GRCm39) |
N2165I |
possibly damaging |
Het |
Anpep |
T |
A |
7: 79,491,109 (GRCm39) |
|
probably null |
Het |
Bcl2a1b |
A |
C |
9: 89,089,647 (GRCm39) |
I145L |
probably benign |
Het |
Ccar2 |
G |
A |
14: 70,377,925 (GRCm39) |
L687F |
probably damaging |
Het |
Cd69 |
A |
G |
6: 129,246,537 (GRCm39) |
|
probably null |
Het |
Chchd10 |
A |
C |
10: 75,772,158 (GRCm39) |
Q43P |
probably damaging |
Het |
Ddx55 |
A |
G |
5: 124,704,988 (GRCm39) |
E415G |
probably damaging |
Het |
Defa41 |
A |
G |
8: 21,692,471 (GRCm39) |
|
probably null |
Het |
Dhx40 |
A |
T |
11: 86,676,599 (GRCm39) |
C172S |
possibly damaging |
Het |
Epha1 |
G |
A |
6: 42,341,625 (GRCm39) |
T475I |
probably benign |
Het |
Eri1 |
T |
C |
8: 35,949,687 (GRCm39) |
T91A |
probably damaging |
Het |
Fscn1 |
C |
T |
5: 142,955,783 (GRCm39) |
A158V |
probably benign |
Het |
Gm11437 |
C |
T |
11: 84,055,386 (GRCm39) |
G77R |
probably null |
Het |
Golm1 |
T |
C |
13: 59,812,041 (GRCm39) |
N94D |
possibly damaging |
Het |
Gpat2 |
G |
C |
2: 127,273,838 (GRCm39) |
G294R |
possibly damaging |
Het |
Haus4 |
C |
A |
14: 54,781,268 (GRCm39) |
E269D |
possibly damaging |
Het |
Hyou1 |
T |
C |
9: 44,300,619 (GRCm39) |
M896T |
probably benign |
Het |
Itpr2 |
T |
A |
6: 146,091,978 (GRCm39) |
M2174L |
possibly damaging |
Het |
Kars1 |
T |
C |
8: 112,720,299 (GRCm39) |
|
probably benign |
Het |
Kif1a |
T |
C |
1: 92,949,035 (GRCm39) |
M1488V |
probably benign |
Het |
Lrp2 |
T |
C |
2: 69,270,267 (GRCm39) |
T4106A |
possibly damaging |
Het |
Lrrc20 |
G |
A |
10: 61,318,225 (GRCm39) |
V16I |
possibly damaging |
Het |
Mecr |
T |
A |
4: 131,582,004 (GRCm39) |
V162E |
probably damaging |
Het |
Ms4a4a |
C |
A |
19: 11,363,778 (GRCm39) |
A102E |
probably damaging |
Het |
Mycn |
T |
C |
12: 12,990,051 (GRCm39) |
D115G |
probably damaging |
Het |
Ninj2 |
A |
T |
6: 120,175,750 (GRCm39) |
T138S |
possibly damaging |
Het |
Oasl2 |
G |
A |
5: 115,044,836 (GRCm39) |
V121I |
probably benign |
Het |
Or10s1 |
T |
C |
9: 39,986,239 (GRCm39) |
L216P |
probably damaging |
Het |
Or2r11 |
A |
T |
6: 42,437,309 (GRCm39) |
S215T |
probably benign |
Het |
Or7g19 |
T |
C |
9: 18,856,127 (GRCm39) |
F61S |
probably damaging |
Het |
Pcdha11 |
A |
C |
18: 37,144,235 (GRCm39) |
I109L |
probably benign |
Het |
Pira1 |
T |
A |
7: 3,739,498 (GRCm39) |
K457* |
probably null |
Het |
Pon1 |
A |
G |
6: 5,185,314 (GRCm39) |
L62P |
probably damaging |
Het |
Rp1l1 |
A |
T |
14: 64,269,126 (GRCm39) |
K1571* |
probably null |
Het |
Sec24d |
G |
T |
3: 123,087,412 (GRCm39) |
G193C |
probably damaging |
Het |
Sema3b |
A |
T |
9: 107,476,025 (GRCm39) |
M732K |
probably benign |
Het |
Serpinb8 |
T |
C |
1: 107,525,201 (GRCm39) |
M1T |
probably null |
Het |
Sgip1 |
T |
A |
4: 102,819,676 (GRCm39) |
V594E |
probably damaging |
Het |
Slc3a2 |
T |
C |
19: 8,685,410 (GRCm39) |
S197G |
probably damaging |
Het |
Slc44a5 |
T |
C |
3: 153,964,660 (GRCm39) |
V520A |
possibly damaging |
Het |
Surf6 |
G |
T |
2: 26,792,761 (GRCm39) |
D13E |
possibly damaging |
Het |
Tmem94 |
G |
A |
11: 115,689,112 (GRCm39) |
R1341H |
probably damaging |
Het |
Tns2 |
G |
A |
15: 102,018,994 (GRCm39) |
R395Q |
probably benign |
Het |
Traf7 |
A |
G |
17: 24,728,813 (GRCm39) |
V591A |
possibly damaging |
Het |
Trim72 |
T |
C |
7: 127,609,220 (GRCm39) |
S341P |
probably damaging |
Het |
Trps1 |
A |
G |
15: 50,694,351 (GRCm39) |
V398A |
probably damaging |
Het |
Unc119 |
T |
A |
11: 78,238,046 (GRCm39) |
Y10N |
probably damaging |
Het |
Ush2a |
T |
C |
1: 188,642,995 (GRCm39) |
L4119P |
possibly damaging |
Het |
Vcp |
A |
T |
4: 42,993,826 (GRCm39) |
I102N |
probably damaging |
Het |
Vmn2r4 |
A |
G |
3: 64,296,731 (GRCm39) |
S685P |
probably damaging |
Het |
Vmn2r58 |
T |
C |
7: 41,486,535 (GRCm39) |
M787V |
possibly damaging |
Het |
Vmn2r72 |
T |
C |
7: 85,398,892 (GRCm39) |
H487R |
probably benign |
Het |
Xcr1 |
A |
G |
9: 123,685,309 (GRCm39) |
I151T |
probably benign |
Het |
Zfp658 |
T |
C |
7: 43,216,701 (GRCm39) |
S24P |
possibly damaging |
Het |
Zfyve16 |
T |
C |
13: 92,650,326 (GRCm39) |
D886G |
probably benign |
Het |
|
Other mutations in Ube2m |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL03100:Ube2m
|
APN |
7 |
12,771,562 (GRCm39) |
missense |
probably benign |
0.37 |
IGL03304:Ube2m
|
APN |
7 |
12,769,685 (GRCm39) |
unclassified |
probably benign |
|
R0077:Ube2m
|
UTSW |
7 |
12,769,657 (GRCm39) |
missense |
probably damaging |
1.00 |
R0715:Ube2m
|
UTSW |
7 |
12,771,553 (GRCm39) |
missense |
probably benign |
0.01 |
R0733:Ube2m
|
UTSW |
7 |
12,769,679 (GRCm39) |
missense |
probably damaging |
0.98 |
R1460:Ube2m
|
UTSW |
7 |
12,769,762 (GRCm39) |
unclassified |
probably benign |
|
R5207:Ube2m
|
UTSW |
7 |
12,770,249 (GRCm39) |
splice site |
probably null |
|
R5228:Ube2m
|
UTSW |
7 |
12,769,697 (GRCm39) |
unclassified |
probably benign |
|
R6226:Ube2m
|
UTSW |
7 |
12,769,815 (GRCm39) |
missense |
probably damaging |
1.00 |
R6299:Ube2m
|
UTSW |
7 |
12,769,797 (GRCm39) |
missense |
probably damaging |
1.00 |
R6591:Ube2m
|
UTSW |
7 |
12,770,396 (GRCm39) |
missense |
probably damaging |
0.99 |
R6691:Ube2m
|
UTSW |
7 |
12,770,396 (GRCm39) |
missense |
probably damaging |
0.99 |
R8029:Ube2m
|
UTSW |
7 |
12,770,524 (GRCm39) |
missense |
probably damaging |
1.00 |
R8036:Ube2m
|
UTSW |
7 |
12,769,566 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- ATCTATGACCCTCCCTAGTGAC -3'
(R):5'- CTCCTAGCAGAGGGAGCAAG -3'
Sequencing Primer
(F):5'- TCCCTAGTGACCGCACC -3'
(R):5'- TGCTTAGCCAGGCCAGAG -3'
|
Posted On |
2018-06-22 |