Incidental Mutation 'R0076:Ube3b'
| ID |
17112 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ube3b
|
| Ensembl Gene |
ENSMUSG00000029577 |
| Gene Name |
ubiquitin protein ligase E3B |
| Synonyms |
|
| MMRRC Submission |
038363-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0076 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
114380607-114421169 bp(+) (GRCm38) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to T
at 114408217 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000073652
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074002]
[ENSMUST00000130169]
|
| AlphaFold |
Q9ES34 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000074002
|
| SMART Domains |
Protein: ENSMUSP00000073652
Gene: ENSMUSG00000029577
| 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 |
noncoding transcript
Transcript: ENSMUST00000150630
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183408
|
| 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 |
|
| Meta Mutation Damage Score |
0.9592 |
| Coding Region Coverage |
- 1x: 89.9%
- 3x: 87.5%
- 10x: 81.6%
- 20x: 72.8%
|
| Validation Efficiency |
92% (83/90) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
T |
G |
7: 120,373,685 (GRCm38) |
|
probably benign |
Het |
| Acpp |
A |
G |
9: 104,324,218 (GRCm38) |
|
probably benign |
Het |
| Ada |
T |
A |
2: 163,727,603 (GRCm38) |
|
probably benign |
Het |
| Ankrd17 |
T |
A |
5: 90,244,406 (GRCm38) |
K1693* |
probably null |
Het |
| Arhgef38 |
T |
A |
3: 133,160,746 (GRCm38) |
H210L |
possibly damaging |
Het |
| Car10 |
G |
A |
11: 93,490,597 (GRCm38) |
E129K |
possibly damaging |
Het |
| Cask |
A |
G |
X: 13,678,274 (GRCm38) |
|
probably benign |
Het |
| Cd19 |
T |
C |
7: 126,410,862 (GRCm38) |
D406G |
probably damaging |
Het |
| Cd93 |
T |
C |
2: 148,442,136 (GRCm38) |
D430G |
probably benign |
Het |
| Cds1 |
T |
C |
5: 101,817,840 (GRCm38) |
|
probably benign |
Het |
| Cerkl |
A |
T |
2: 79,343,289 (GRCm38) |
S259T |
possibly damaging |
Het |
| Cog8 |
T |
C |
8: 107,054,133 (GRCm38) |
I164M |
possibly damaging |
Het |
| Col4a1 |
G |
A |
8: 11,218,713 (GRCm38) |
P1009L |
probably damaging |
Het |
| Col9a1 |
G |
A |
1: 24,237,497 (GRCm38) |
|
probably null |
Het |
| Dcc |
G |
A |
18: 71,321,046 (GRCm38) |
Q1241* |
probably null |
Het |
| Dock3 |
A |
C |
9: 106,911,486 (GRCm38) |
|
probably benign |
Het |
| Dus1l |
A |
T |
11: 120,792,808 (GRCm38) |
|
probably benign |
Het |
| Dvl2 |
G |
A |
11: 70,008,100 (GRCm38) |
E438K |
probably damaging |
Het |
| Eif3g |
A |
G |
9: 20,897,753 (GRCm38) |
F85S |
probably damaging |
Het |
| Fam234b |
A |
G |
6: 135,227,226 (GRCm38) |
M456V |
probably benign |
Het |
| Fbxo47 |
G |
A |
11: 97,857,655 (GRCm38) |
|
probably benign |
Het |
| Fyb2 |
A |
G |
4: 104,945,464 (GRCm38) |
T188A |
possibly damaging |
Het |
| Gm11437 |
T |
C |
11: 84,148,636 (GRCm38) |
T288A |
possibly damaging |
Het |
| Gm5546 |
T |
A |
3: 104,353,132 (GRCm38) |
|
noncoding transcript |
Het |
| Gmfb |
C |
A |
14: 46,817,455 (GRCm38) |
A11S |
probably benign |
Het |
| Gpat4 |
G |
A |
8: 23,190,705 (GRCm38) |
|
probably benign |
Het |
| Ifitm6 |
T |
A |
7: 141,016,007 (GRCm38) |
R124S |
possibly damaging |
Het |
| Il17rd |
T |
A |
14: 27,094,854 (GRCm38) |
L172Q |
probably damaging |
Het |
| Il4 |
A |
T |
11: 53,613,914 (GRCm38) |
L13Q |
probably damaging |
Het |
| Kif2b |
A |
G |
11: 91,575,909 (GRCm38) |
M516T |
probably damaging |
Het |
| Kmt2a |
A |
G |
9: 44,830,059 (GRCm38) |
|
probably benign |
Het |
| Maats1 |
G |
A |
16: 38,302,684 (GRCm38) |
Q661* |
probably null |
Het |
| Mark1-ps1 |
T |
A |
17: 53,947,877 (GRCm38) |
|
noncoding transcript |
Het |
| Mndal |
G |
T |
1: 173,874,447 (GRCm38) |
C96* |
probably null |
Het |
| Mroh1 |
T |
C |
15: 76,451,140 (GRCm38) |
S1365P |
probably benign |
Het |
| Mrpl12 |
A |
G |
11: 120,485,442 (GRCm38) |
|
probably benign |
Het |
| Mthfsd |
C |
A |
8: 121,098,739 (GRCm38) |
V270F |
probably benign |
Het |
| Nbas |
T |
A |
12: 13,324,336 (GRCm38) |
V555D |
probably damaging |
Het |
| Pcdhb16 |
T |
C |
18: 37,478,359 (GRCm38) |
V124A |
probably damaging |
Het |
| Pla2g10 |
T |
A |
16: 13,715,518 (GRCm38) |
Y131F |
possibly damaging |
Het |
| Plec |
T |
C |
15: 76,191,414 (GRCm38) |
|
probably benign |
Het |
| Polr2b |
T |
A |
5: 77,326,561 (GRCm38) |
V415E |
possibly damaging |
Het |
| Pou6f1 |
G |
A |
15: 100,587,836 (GRCm38) |
Q106* |
probably null |
Het |
| Ptprd |
T |
C |
4: 75,947,039 (GRCm38) |
|
probably benign |
Het |
| Rad54b |
G |
A |
4: 11,609,480 (GRCm38) |
|
probably benign |
Het |
| Rspo1 |
G |
A |
4: 124,991,397 (GRCm38) |
R22Q |
probably benign |
Het |
| Scn7a |
A |
G |
2: 66,714,037 (GRCm38) |
V370A |
probably benign |
Het |
| Sec1 |
A |
G |
7: 45,678,891 (GRCm38) |
V244A |
probably damaging |
Het |
| Serac1 |
A |
G |
17: 6,064,937 (GRCm38) |
|
probably benign |
Het |
| Slco2b1 |
A |
T |
7: 99,685,501 (GRCm38) |
Y254* |
probably null |
Het |
| Steap3 |
G |
A |
1: 120,227,730 (GRCm38) |
R500C |
probably damaging |
Het |
| Stk10 |
A |
G |
11: 32,603,722 (GRCm38) |
T580A |
probably benign |
Het |
| Tpo |
C |
T |
12: 30,104,023 (GRCm38) |
G228R |
probably damaging |
Het |
| Tpx2 |
T |
C |
2: 152,893,683 (GRCm38) |
F744L |
probably damaging |
Het |
| Vmn2r84 |
A |
G |
10: 130,394,193 (GRCm38) |
S17P |
probably damaging |
Het |
| Vps13d |
A |
T |
4: 145,164,694 (GRCm38) |
|
probably benign |
Het |
| Zfp532 |
T |
A |
18: 65,685,627 (GRCm38) |
S851R |
probably benign |
Het |
| Zfp623 |
G |
A |
15: 75,947,209 (GRCm38) |
E5K |
probably benign |
Het |
|
| Other mutations in Ube3b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00754:Ube3b
|
APN |
5 |
114,415,287 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
IGL01154:Ube3b
|
APN |
5 |
114,406,252 (GRCm38) |
missense |
probably null |
0.86 |
|
IGL02632:Ube3b
|
APN |
5 |
114,398,841 (GRCm38) |
missense |
probably benign |
|
|
IGL02850:Ube3b
|
APN |
5 |
114,406,249 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02878:Ube3b
|
APN |
5 |
114,404,717 (GRCm38) |
splice site |
probably null |
|
|
IGL02881:Ube3b
|
APN |
5 |
114,412,884 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R0003:Ube3b
|
UTSW |
5 |
114,398,851 (GRCm38) |
missense |
probably benign |
0.17 |
|
R0071:Ube3b
|
UTSW |
5 |
114,419,497 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0071:Ube3b
|
UTSW |
5 |
114,419,497 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0076:Ube3b
|
UTSW |
5 |
114,408,217 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0111:Ube3b
|
UTSW |
5 |
114,390,376 (GRCm38) |
splice site |
probably benign |
|
|
R0309:Ube3b
|
UTSW |
5 |
114,419,469 (GRCm38) |
splice site |
probably benign |
|
|
R0718:Ube3b
|
UTSW |
5 |
114,402,555 (GRCm38) |
nonsense |
probably null |
|
|
R1344:Ube3b
|
UTSW |
5 |
114,418,575 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1350:Ube3b
|
UTSW |
5 |
114,406,137 (GRCm38) |
splice site |
probably null |
|
|
R1418:Ube3b
|
UTSW |
5 |
114,418,575 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1732:Ube3b
|
UTSW |
5 |
114,387,445 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1764:Ube3b
|
UTSW |
5 |
114,404,617 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R1975:Ube3b
|
UTSW |
5 |
114,399,865 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R2014:Ube3b
|
UTSW |
5 |
114,411,149 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2015:Ube3b
|
UTSW |
5 |
114,411,149 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2041:Ube3b
|
UTSW |
5 |
114,387,233 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2074:Ube3b
|
UTSW |
5 |
114,415,255 (GRCm38) |
missense |
probably benign |
0.14 |
|
R2202:Ube3b
|
UTSW |
5 |
114,389,074 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2205:Ube3b
|
UTSW |
5 |
114,389,074 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3826:Ube3b
|
UTSW |
5 |
114,399,951 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3829:Ube3b
|
UTSW |
5 |
114,399,951 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3830:Ube3b
|
UTSW |
5 |
114,399,951 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3927:Ube3b
|
UTSW |
5 |
114,415,680 (GRCm38) |
missense |
probably benign |
0.03 |
|
R3974:Ube3b
|
UTSW |
5 |
114,412,430 (GRCm38) |
missense |
probably benign |
0.05 |
|
R4049:Ube3b
|
UTSW |
5 |
114,412,870 (GRCm38) |
missense |
probably benign |
0.09 |
|
R4096:Ube3b
|
UTSW |
5 |
114,393,086 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R4261:Ube3b
|
UTSW |
5 |
114,398,428 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R4415:Ube3b
|
UTSW |
5 |
114,412,444 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4688:Ube3b
|
UTSW |
5 |
114,393,078 (GRCm38) |
missense |
probably benign |
0.03 |
|
R4779:Ube3b
|
UTSW |
5 |
114,404,717 (GRCm38) |
splice site |
probably null |
|
|
R4824:Ube3b
|
UTSW |
5 |
114,415,726 (GRCm38) |
splice site |
probably null |
|
|
R4868:Ube3b
|
UTSW |
5 |
114,398,427 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4953:Ube3b
|
UTSW |
5 |
114,401,410 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5013:Ube3b
|
UTSW |
5 |
114,407,641 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5057:Ube3b
|
UTSW |
5 |
114,406,257 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5117:Ube3b
|
UTSW |
5 |
114,419,631 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R5131:Ube3b
|
UTSW |
5 |
114,407,546 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5498:Ube3b
|
UTSW |
5 |
114,418,574 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5564:Ube3b
|
UTSW |
5 |
114,389,075 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5572:Ube3b
|
UTSW |
5 |
114,406,179 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5580:Ube3b
|
UTSW |
5 |
114,415,323 (GRCm38) |
missense |
probably benign |
|
|
R5596:Ube3b
|
UTSW |
5 |
114,406,160 (GRCm38) |
splice site |
probably null |
|
|
R5843:Ube3b
|
UTSW |
5 |
114,412,299 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5910:Ube3b
|
UTSW |
5 |
114,415,309 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
R6591:Ube3b
|
UTSW |
5 |
114,408,124 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6691:Ube3b
|
UTSW |
5 |
114,408,124 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7148:Ube3b
|
UTSW |
5 |
114,406,252 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R7334:Ube3b
|
UTSW |
5 |
114,415,681 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
R7438:Ube3b
|
UTSW |
5 |
114,418,626 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7438:Ube3b
|
UTSW |
5 |
114,415,284 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R7640:Ube3b
|
UTSW |
5 |
114,415,323 (GRCm38) |
missense |
probably benign |
|
|
R7825:Ube3b
|
UTSW |
5 |
114,401,312 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7958:Ube3b
|
UTSW |
5 |
114,401,423 (GRCm38) |
missense |
probably benign |
0.05 |
|
R8025:Ube3b
|
UTSW |
5 |
114,408,209 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8058:Ube3b
|
UTSW |
5 |
114,406,785 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
R8087:Ube3b
|
UTSW |
5 |
114,412,489 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8182:Ube3b
|
UTSW |
5 |
114,392,138 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R8322:Ube3b
|
UTSW |
5 |
114,402,686 (GRCm38) |
missense |
probably benign |
0.04 |
|
R8465:Ube3b
|
UTSW |
5 |
114,390,390 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8682:Ube3b
|
UTSW |
5 |
114,412,290 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8708:Ube3b
|
UTSW |
5 |
114,393,090 (GRCm38) |
missense |
probably benign |
0.34 |
|
R8758:Ube3b
|
UTSW |
5 |
114,415,200 (GRCm38) |
critical splice acceptor site |
probably benign |
|
|
R8784:Ube3b
|
UTSW |
5 |
114,388,739 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9058:Ube3b
|
UTSW |
5 |
114,415,239 (GRCm38) |
missense |
probably benign |
0.05 |
|
R9072:Ube3b
|
UTSW |
5 |
114,404,546 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9116:Ube3b
|
UTSW |
5 |
114,404,776 (GRCm38) |
intron |
probably benign |
|
|
R9537:Ube3b
|
UTSW |
5 |
114,387,184 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9596:Ube3b
|
UTSW |
5 |
114,389,110 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9632:Ube3b
|
UTSW |
5 |
114,415,309 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9710:Ube3b
|
UTSW |
5 |
114,415,309 (GRCm38) |
missense |
probably benign |
0.00 |
|
X0017:Ube3b
|
UTSW |
5 |
114,415,585 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
| Posted On |
2013-01-20 |
Incidental Mutation