Incidental Mutation 'R9072:Ube3b'
| ID |
700798 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ube3b
|
| Ensembl Gene |
ENSMUSG00000029577 |
| Gene Name |
ubiquitin protein ligase E3B |
| Synonyms |
|
| MMRRC Submission |
068894-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9072 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
114518668-114559230 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 114542607 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 488
(T488M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000073652
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074002]
[ENSMUST00000130169]
|
| AlphaFold |
Q9ES34 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000074002
AA Change: T488M
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000073652
Gene: ENSMUSG00000029577
AA Change: T488M
| Domain | Start | End | E-Value | Type |
|---|
|
IQ
|
28 |
50 |
1.17e-2 |
SMART |
|
low complexity region
|
310 |
327 |
N/A |
INTRINSIC |
|
low complexity region
|
412 |
428 |
N/A |
INTRINSIC |
|
low complexity region
|
470 |
488 |
N/A |
INTRINSIC |
|
HECTc
|
697 |
1070 |
2.15e-110 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130169
|
| SMART Domains |
Protein: ENSMUSP00000138723
Gene: ENSMUSG00000029577
| Domain | Start | End | E-Value | Type |
|---|
|
IQ
|
28 |
50 |
1.17e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196651
|
| SMART Domains |
Protein: ENSMUSP00000143455
Gene: ENSMUSG00000029577
| Domain | Start | End | E-Value | Type |
|---|
|
HECTc
|
122 |
495 |
1.1e-112 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (63/63) |
| 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: E1 ubiquitin-activating enzymes, E2 ubiquitin-conjugating enzymes, and E3 ubiquitin-protein ligases. This gene encodes a member of the E3 ubiquitin-conjugating enzyme family which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme and transfers the ubiquitin to the targeted substrates. A HECT (homology to E6-AP C-terminus) domain in the C-terminus of the longer isoform of this protein is the catalytic site of ubiquitin transfer and forms a complex with E2 conjugases. Shorter isoforms of this protein which lack the C-terminal HECT domain are therefore unlikely to bind E2 enzymes. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2012]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit preweaning lethality, reduced fertility, decreased growth, reduced grip strength, impaired hearing, eye inflammation and decreased cholesterol level. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
C |
11: 9,240,834 (GRCm39) |
E899A |
possibly damaging |
Het |
| Best2 |
T |
A |
8: 85,737,418 (GRCm39) |
I230F |
probably damaging |
Het |
| C2cd2 |
T |
C |
16: 97,676,403 (GRCm39) |
E448G |
probably damaging |
Het |
| C2cd3 |
T |
G |
7: 100,040,291 (GRCm39) |
S287A |
probably benign |
Het |
| Camta2 |
G |
A |
11: 70,567,234 (GRCm39) |
P677S |
probably benign |
Het |
| Cand2 |
C |
T |
6: 115,769,490 (GRCm39) |
R767C |
probably damaging |
Het |
| Celsr3 |
G |
A |
9: 108,704,293 (GRCm39) |
E259K |
probably benign |
Het |
| Cep250 |
C |
G |
2: 155,834,035 (GRCm39) |
Q1987E |
probably benign |
Het |
| Chn1 |
T |
C |
2: 73,443,430 (GRCm39) |
D440G |
probably benign |
Het |
| Cmbl |
A |
T |
15: 31,585,449 (GRCm39) |
D111V |
possibly damaging |
Het |
| Col5a3 |
T |
A |
9: 20,682,453 (GRCm39) |
I1664F |
unknown |
Het |
| Cp |
T |
C |
3: 20,033,158 (GRCm39) |
S662P |
possibly damaging |
Het |
| Cpne5 |
G |
A |
17: 29,430,677 (GRCm39) |
R78C |
probably damaging |
Het |
| Cst5 |
A |
G |
2: 149,249,261 (GRCm39) |
T104A |
probably benign |
Het |
| Cyp11b2 |
A |
G |
15: 74,725,662 (GRCm39) |
F195S |
possibly damaging |
Het |
| Dcaf17 |
T |
C |
2: 70,920,136 (GRCm39) |
Y475H |
probably benign |
Het |
| Edem2 |
G |
C |
2: 155,571,212 (GRCm39) |
L16V |
unknown |
Het |
| Eeig1 |
A |
G |
2: 32,455,674 (GRCm39) |
S267G |
probably benign |
Het |
| Ext2 |
A |
G |
2: 93,644,144 (GRCm39) |
W46R |
probably benign |
Het |
| Gal3st3 |
T |
A |
19: 5,352,605 (GRCm39) |
S11T |
probably benign |
Het |
| Garin5b |
A |
T |
7: 4,762,253 (GRCm39) |
H265Q |
|
Het |
| Gfi1 |
T |
A |
5: 107,865,725 (GRCm39) |
I451F |
possibly damaging |
Het |
| Gfpt2 |
T |
C |
11: 49,714,185 (GRCm39) |
L314P |
probably damaging |
Het |
| Gm3250 |
A |
T |
10: 77,618,127 (GRCm39) |
C84S |
unknown |
Het |
| Hmcn1 |
A |
T |
1: 150,565,320 (GRCm39) |
V2269E |
probably benign |
Het |
| Ighv1-55 |
T |
C |
12: 115,172,013 (GRCm39) |
H18R |
probably benign |
Het |
| Iqgap3 |
G |
A |
3: 87,998,883 (GRCm39) |
G328E |
probably benign |
Het |
| Klf6 |
G |
T |
13: 5,917,233 (GRCm39) |
C303F |
probably benign |
Het |
| Klhl35 |
A |
T |
7: 99,122,129 (GRCm39) |
S77C |
probably damaging |
Het |
| Ktn1 |
T |
G |
14: 47,941,694 (GRCm39) |
V822G |
probably benign |
Het |
| Lbhd2 |
G |
T |
12: 111,375,040 (GRCm39) |
G21W |
probably damaging |
Het |
| Lrp1b |
G |
A |
2: 40,615,457 (GRCm39) |
R3649* |
probably null |
Het |
| Map2 |
C |
A |
1: 66,453,312 (GRCm39) |
T734N |
probably damaging |
Het |
| Mas1 |
A |
G |
17: 13,060,839 (GRCm39) |
F195L |
possibly damaging |
Het |
| Med1 |
A |
T |
11: 98,080,009 (GRCm39) |
M44K |
possibly damaging |
Het |
| Morc3 |
T |
C |
16: 93,667,482 (GRCm39) |
V620A |
probably benign |
Het |
| Naip2 |
T |
C |
13: 100,291,468 (GRCm39) |
S1157G |
probably benign |
Het |
| Naip2 |
C |
T |
13: 100,291,459 (GRCm39) |
D1160N |
probably benign |
Het |
| Nucb2 |
T |
A |
7: 116,125,631 (GRCm39) |
I159N |
probably damaging |
Het |
| Olfm5 |
A |
G |
7: 103,802,984 (GRCm39) |
L493P |
probably benign |
Het |
| Or1e1 |
T |
G |
11: 73,244,797 (GRCm39) |
F73V |
probably damaging |
Het |
| Or2ag15 |
A |
T |
7: 106,340,759 (GRCm39) |
C127* |
probably null |
Het |
| Or56b1 |
C |
T |
7: 104,285,291 (GRCm39) |
R137C |
probably benign |
Het |
| Pcdhb22 |
T |
A |
18: 37,651,813 (GRCm39) |
C94S |
probably damaging |
Het |
| Pcdhga5 |
A |
G |
18: 37,829,537 (GRCm39) |
I662V |
probably benign |
Het |
| Plcb2 |
G |
A |
2: 118,547,878 (GRCm39) |
T472M |
possibly damaging |
Het |
| Plcb4 |
A |
G |
2: 135,849,795 (GRCm39) |
E1142G |
possibly damaging |
Het |
| Pmm1 |
C |
T |
15: 81,839,896 (GRCm39) |
R143H |
probably damaging |
Het |
| Polr2l |
T |
C |
7: 141,053,285 (GRCm39) |
Y43C |
probably damaging |
Het |
| Prkcb |
T |
A |
7: 122,127,771 (GRCm39) |
N298K |
probably benign |
Het |
| Ptar1 |
T |
A |
19: 23,695,414 (GRCm39) |
C294S |
probably benign |
Het |
| Ptprq |
T |
C |
10: 107,401,736 (GRCm39) |
I1919V |
|
Het |
| Slc25a18 |
C |
T |
6: 120,769,022 (GRCm39) |
R180C |
probably benign |
Het |
| Slc27a3 |
A |
C |
3: 90,295,768 (GRCm39) |
S285R |
probably damaging |
Het |
| Smg1 |
C |
T |
7: 117,783,032 (GRCm39) |
V1092I |
unknown |
Het |
| Spata19 |
T |
G |
9: 27,309,024 (GRCm39) |
I54R |
possibly damaging |
Het |
| St6galnac5 |
T |
C |
3: 152,551,956 (GRCm39) |
T204A |
probably benign |
Het |
| Tdpoz8 |
T |
A |
3: 92,981,341 (GRCm39) |
C46S |
probably benign |
Het |
| Trpc3 |
T |
C |
3: 36,694,831 (GRCm39) |
I708V |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,775,183 (GRCm39) |
E1999G |
unknown |
Het |
| Vmn1r235 |
A |
T |
17: 21,482,271 (GRCm39) |
I199F |
probably benign |
Het |
| Vsig8 |
A |
T |
1: 172,388,340 (GRCm39) |
N215Y |
possibly damaging |
Het |
| Wapl |
A |
G |
14: 34,399,417 (GRCm39) |
K162R |
possibly damaging |
Het |
| Wdpcp |
A |
G |
11: 21,614,014 (GRCm39) |
T60A |
probably benign |
Het |
| Wdr26 |
A |
T |
1: 181,010,351 (GRCm39) |
I566N |
probably damaging |
Het |
| Wdr46 |
C |
T |
17: 34,163,555 (GRCm39) |
T371M |
probably benign |
Het |
| Zdbf2 |
T |
C |
1: 63,344,923 (GRCm39) |
S1101P |
possibly damaging |
Het |
|
| Other mutations in Ube3b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00754:Ube3b
|
APN |
5 |
114,553,348 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01154:Ube3b
|
APN |
5 |
114,544,313 (GRCm39) |
missense |
probably null |
0.86 |
|
IGL02632:Ube3b
|
APN |
5 |
114,536,902 (GRCm39) |
missense |
probably benign |
|
|
IGL02850:Ube3b
|
APN |
5 |
114,544,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02878:Ube3b
|
APN |
5 |
114,542,778 (GRCm39) |
splice site |
probably null |
|
|
IGL02881:Ube3b
|
APN |
5 |
114,550,945 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R0003:Ube3b
|
UTSW |
5 |
114,536,912 (GRCm39) |
missense |
probably benign |
0.17 |
|
R0071:Ube3b
|
UTSW |
5 |
114,557,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0071:Ube3b
|
UTSW |
5 |
114,557,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0076:Ube3b
|
UTSW |
5 |
114,546,278 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0076:Ube3b
|
UTSW |
5 |
114,546,278 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0111:Ube3b
|
UTSW |
5 |
114,528,437 (GRCm39) |
splice site |
probably benign |
|
|
R0309:Ube3b
|
UTSW |
5 |
114,557,530 (GRCm39) |
splice site |
probably benign |
|
|
R0718:Ube3b
|
UTSW |
5 |
114,540,616 (GRCm39) |
nonsense |
probably null |
|
|
R1344:Ube3b
|
UTSW |
5 |
114,556,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1350:Ube3b
|
UTSW |
5 |
114,544,198 (GRCm39) |
splice site |
probably null |
|
|
R1418:Ube3b
|
UTSW |
5 |
114,556,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1732:Ube3b
|
UTSW |
5 |
114,525,506 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1764:Ube3b
|
UTSW |
5 |
114,542,678 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1975:Ube3b
|
UTSW |
5 |
114,537,926 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R2014:Ube3b
|
UTSW |
5 |
114,549,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2015:Ube3b
|
UTSW |
5 |
114,549,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2041:Ube3b
|
UTSW |
5 |
114,525,294 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2074:Ube3b
|
UTSW |
5 |
114,553,316 (GRCm39) |
missense |
probably benign |
0.14 |
|
R2202:Ube3b
|
UTSW |
5 |
114,527,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2205:Ube3b
|
UTSW |
5 |
114,527,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3826:Ube3b
|
UTSW |
5 |
114,538,012 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3829:Ube3b
|
UTSW |
5 |
114,538,012 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3830:Ube3b
|
UTSW |
5 |
114,538,012 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3927:Ube3b
|
UTSW |
5 |
114,553,741 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3974:Ube3b
|
UTSW |
5 |
114,550,491 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4049:Ube3b
|
UTSW |
5 |
114,550,931 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4096:Ube3b
|
UTSW |
5 |
114,531,147 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R4261:Ube3b
|
UTSW |
5 |
114,536,489 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4415:Ube3b
|
UTSW |
5 |
114,550,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4688:Ube3b
|
UTSW |
5 |
114,531,139 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4779:Ube3b
|
UTSW |
5 |
114,542,778 (GRCm39) |
splice site |
probably null |
|
|
R4824:Ube3b
|
UTSW |
5 |
114,553,787 (GRCm39) |
splice site |
probably null |
|
|
R4868:Ube3b
|
UTSW |
5 |
114,536,488 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4953:Ube3b
|
UTSW |
5 |
114,539,471 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5013:Ube3b
|
UTSW |
5 |
114,545,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5057:Ube3b
|
UTSW |
5 |
114,544,318 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5117:Ube3b
|
UTSW |
5 |
114,557,692 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5131:Ube3b
|
UTSW |
5 |
114,545,607 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5498:Ube3b
|
UTSW |
5 |
114,556,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5564:Ube3b
|
UTSW |
5 |
114,527,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5572:Ube3b
|
UTSW |
5 |
114,544,240 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5580:Ube3b
|
UTSW |
5 |
114,553,384 (GRCm39) |
missense |
probably benign |
|
|
R5596:Ube3b
|
UTSW |
5 |
114,544,221 (GRCm39) |
splice site |
probably null |
|
|
R5843:Ube3b
|
UTSW |
5 |
114,550,360 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5910:Ube3b
|
UTSW |
5 |
114,553,370 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R6591:Ube3b
|
UTSW |
5 |
114,546,185 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6691:Ube3b
|
UTSW |
5 |
114,546,185 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7148:Ube3b
|
UTSW |
5 |
114,544,313 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7334:Ube3b
|
UTSW |
5 |
114,553,742 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R7438:Ube3b
|
UTSW |
5 |
114,556,687 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7438:Ube3b
|
UTSW |
5 |
114,553,345 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7640:Ube3b
|
UTSW |
5 |
114,553,384 (GRCm39) |
missense |
probably benign |
|
|
R7825:Ube3b
|
UTSW |
5 |
114,539,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7958:Ube3b
|
UTSW |
5 |
114,539,484 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8025:Ube3b
|
UTSW |
5 |
114,546,270 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8058:Ube3b
|
UTSW |
5 |
114,544,846 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R8087:Ube3b
|
UTSW |
5 |
114,550,550 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8182:Ube3b
|
UTSW |
5 |
114,530,199 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8322:Ube3b
|
UTSW |
5 |
114,540,747 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8465:Ube3b
|
UTSW |
5 |
114,528,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8682:Ube3b
|
UTSW |
5 |
114,550,351 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8708:Ube3b
|
UTSW |
5 |
114,531,151 (GRCm39) |
missense |
probably benign |
0.34 |
|
R8758:Ube3b
|
UTSW |
5 |
114,553,261 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R8784:Ube3b
|
UTSW |
5 |
114,526,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9058:Ube3b
|
UTSW |
5 |
114,553,300 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9116:Ube3b
|
UTSW |
5 |
114,542,837 (GRCm39) |
intron |
probably benign |
|
|
R9537:Ube3b
|
UTSW |
5 |
114,525,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9596:Ube3b
|
UTSW |
5 |
114,527,171 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9632:Ube3b
|
UTSW |
5 |
114,553,370 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9710:Ube3b
|
UTSW |
5 |
114,553,370 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0017:Ube3b
|
UTSW |
5 |
114,553,646 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTGAGAGCATCTGTCCAGTGTC -3'
(R):5'- GCTTCCTGAACACTTGATGTCC -3'
Sequencing Primer
(F):5'- AGCATCTGTCCAGTGTCAGCTG -3'
(R):5'- TCCCACATGGACCTACGTGATG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation