Incidental Mutation 'R5117:Ube3b'
| ID |
392674 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ube3b
|
| Ensembl Gene |
ENSMUSG00000029577 |
| Gene Name |
ubiquitin protein ligase E3B |
| Synonyms |
|
| MMRRC Submission |
042705-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5117 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
114518668-114559230 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 114557692 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Aspartic acid
at position 1059
(Y1059D)
|
| 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: Y1059D
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000073652
Gene: ENSMUSG00000029577
AA Change: Y1059D
| 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 |
|
| Meta Mutation Damage Score |
0.8547 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.5%
|
| Validation Efficiency |
100% (67/67) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010315B03Rik |
G |
A |
9: 124,055,715 (GRCm39) |
T403I |
probably benign |
Het |
| 4921509C19Rik |
T |
C |
2: 151,314,460 (GRCm39) |
E406G |
probably benign |
Het |
| Abca8b |
T |
C |
11: 109,857,629 (GRCm39) |
E641G |
probably damaging |
Het |
| Agrn |
T |
C |
4: 156,270,010 (GRCm39) |
N49S |
probably benign |
Het |
| Cacna1b |
A |
G |
2: 24,622,340 (GRCm39) |
S215P |
probably damaging |
Het |
| Cacna1g |
T |
A |
11: 94,323,329 (GRCm39) |
I1292F |
probably damaging |
Het |
| Card14 |
T |
A |
11: 119,229,076 (GRCm39) |
I662N |
probably damaging |
Het |
| Cep135 |
A |
G |
5: 76,779,276 (GRCm39) |
K762R |
probably benign |
Het |
| Ces1b |
A |
G |
8: 93,799,837 (GRCm39) |
|
probably null |
Het |
| Erich6 |
T |
G |
3: 58,530,626 (GRCm39) |
I448L |
probably benign |
Het |
| Fads3 |
T |
G |
19: 10,019,322 (GRCm39) |
|
probably null |
Het |
| Fam234a |
A |
G |
17: 26,432,512 (GRCm39) |
F546L |
probably benign |
Het |
| Fbxl9 |
T |
A |
8: 106,039,492 (GRCm39) |
R595* |
probably null |
Het |
| Gm10717 |
T |
C |
9: 3,025,625 (GRCm39) |
L70S |
probably benign |
Het |
| Gm11787 |
G |
T |
4: 3,509,524 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5519 |
A |
G |
19: 33,802,471 (GRCm39) |
*171W |
probably null |
Het |
| Grid2 |
T |
C |
6: 63,233,917 (GRCm39) |
I26T |
probably benign |
Het |
| Hmcn2 |
T |
G |
2: 31,348,061 (GRCm39) |
C4902W |
possibly damaging |
Het |
| Hsp90aa1 |
T |
C |
12: 110,661,698 (GRCm39) |
N106S |
possibly damaging |
Het |
| Il18 |
A |
T |
9: 50,492,809 (GRCm39) |
N125I |
possibly damaging |
Het |
| Ints9 |
G |
T |
14: 65,230,540 (GRCm39) |
E156* |
probably null |
Het |
| Kalrn |
T |
C |
16: 33,853,971 (GRCm39) |
|
probably null |
Het |
| Klkb1 |
A |
T |
8: 45,742,149 (GRCm39) |
D43E |
possibly damaging |
Het |
| Lipo3 |
A |
T |
19: 33,536,952 (GRCm39) |
M256K |
probably benign |
Het |
| Mapk6 |
C |
A |
9: 75,305,017 (GRCm39) |
M133I |
possibly damaging |
Het |
| Med21 |
T |
A |
6: 146,548,781 (GRCm39) |
|
probably benign |
Het |
| Myrf |
T |
A |
19: 10,189,857 (GRCm39) |
E984V |
probably damaging |
Het |
| Naga |
A |
C |
15: 82,221,657 (GRCm39) |
M28R |
probably damaging |
Het |
| Nphp4 |
T |
G |
4: 152,608,689 (GRCm39) |
|
probably null |
Het |
| Nr1h4 |
T |
C |
10: 89,314,284 (GRCm39) |
N295D |
probably damaging |
Het |
| Or10j27 |
T |
C |
1: 172,958,484 (GRCm39) |
Q100R |
possibly damaging |
Het |
| Or13n4 |
A |
T |
7: 106,422,869 (GRCm39) |
I288N |
probably damaging |
Het |
| Or55b3 |
T |
C |
7: 102,126,709 (GRCm39) |
M123V |
probably damaging |
Het |
| Parp9 |
C |
A |
16: 35,792,202 (GRCm39) |
|
probably null |
Het |
| Pax4 |
T |
C |
6: 28,446,278 (GRCm39) |
I72V |
probably benign |
Het |
| Pcdh7 |
A |
G |
5: 57,879,090 (GRCm39) |
I542V |
probably benign |
Het |
| Pcdhgb7 |
C |
T |
18: 37,885,939 (GRCm39) |
R370W |
probably damaging |
Het |
| Pik3r1 |
G |
A |
13: 101,828,744 (GRCm39) |
T18I |
probably benign |
Het |
| Ppara |
A |
G |
15: 85,661,962 (GRCm39) |
I68V |
probably benign |
Het |
| Ptch2 |
T |
A |
4: 116,963,146 (GRCm39) |
I211N |
probably damaging |
Het |
| Senp6 |
G |
A |
9: 80,038,028 (GRCm39) |
V715M |
probably damaging |
Het |
| Serf2 |
C |
T |
2: 121,281,184 (GRCm39) |
P41L |
possibly damaging |
Het |
| Serpina12 |
T |
C |
12: 104,004,009 (GRCm39) |
I208V |
possibly damaging |
Het |
| Serpinf2 |
T |
C |
11: 75,323,326 (GRCm39) |
D460G |
probably benign |
Het |
| Sh3d21 |
T |
C |
4: 126,045,665 (GRCm39) |
E338G |
probably damaging |
Het |
| Slc7a11 |
T |
C |
3: 50,333,599 (GRCm39) |
D384G |
probably damaging |
Het |
| Snx15 |
A |
G |
19: 6,174,181 (GRCm39) |
|
probably null |
Het |
| Supt16 |
A |
G |
14: 52,420,549 (GRCm39) |
F84L |
probably damaging |
Het |
| Tamalin |
A |
G |
15: 101,128,418 (GRCm39) |
D152G |
probably damaging |
Het |
| Thoc2l |
A |
G |
5: 104,668,121 (GRCm39) |
Y881C |
probably damaging |
Het |
| Tm9sf2 |
C |
A |
14: 122,380,913 (GRCm39) |
Q169K |
probably benign |
Het |
| Trim56 |
A |
T |
5: 137,142,832 (GRCm39) |
V228E |
probably benign |
Het |
| Triqk |
T |
A |
4: 12,980,390 (GRCm39) |
|
probably null |
Het |
| Ttc21a |
T |
A |
9: 119,795,631 (GRCm39) |
I1155N |
possibly damaging |
Het |
| Vmn2r14 |
T |
C |
5: 109,363,961 (GRCm39) |
T652A |
probably benign |
Het |
| Wdr4 |
A |
G |
17: 31,718,798 (GRCm39) |
V304A |
probably benign |
Het |
| Wwp2 |
T |
C |
8: 108,280,694 (GRCm39) |
S646P |
possibly damaging |
Het |
| Zfand5 |
T |
A |
19: 21,257,009 (GRCm39) |
S130T |
probably benign |
Het |
| Zfp599 |
A |
T |
9: 22,161,396 (GRCm39) |
Y256* |
probably null |
Het |
| Zfp703 |
C |
T |
8: 27,469,233 (GRCm39) |
P299L |
probably damaging |
Het |
| Zfyve16 |
T |
A |
13: 92,642,197 (GRCm39) |
I1209L |
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 |
|
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 |
|
R9072:Ube3b
|
UTSW |
5 |
114,542,607 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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'- AGCTGGGCATATCCTACTCC -3'
(R):5'- GGGGTTATTTTCATCAGCCCTC -3'
Sequencing Primer
(F):5'- TCTGACCCAAAGCTGTGTG -3'
(R):5'- AGCCCTCTGTCCCCAGTG -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation