Incidental Mutation 'R0071:Ube3b'
ID |
43842 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ube3b
|
Ensembl Gene |
ENSMUSG00000029577 |
Gene Name |
ubiquitin protein ligase E3B |
Synonyms |
|
MMRRC Submission |
038362-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0071 (G1)
|
Quality Score |
93 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
114518668-114559230 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 114557558 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Aspartic acid
at position 1014
(G1014D)
|
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: G1014D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000073652 Gene: ENSMUSG00000029577 AA Change: G1014D
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 |
0.6408 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 92.2%
|
Validation Efficiency |
99% (78/79) |
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: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930474N05Rik |
A |
G |
14: 35,812,746 (GRCm39) |
|
probably benign |
Het |
Acot12 |
T |
C |
13: 91,929,293 (GRCm39) |
|
probably benign |
Het |
Acrbp |
T |
C |
6: 125,027,915 (GRCm39) |
|
probably benign |
Het |
Amotl1 |
G |
A |
9: 14,460,069 (GRCm39) |
A890V |
probably benign |
Het |
Aox3 |
T |
A |
1: 58,211,050 (GRCm39) |
C931* |
probably null |
Het |
Apob |
T |
A |
12: 8,052,111 (GRCm39) |
V1184E |
probably damaging |
Het |
Arhgap44 |
A |
T |
11: 64,902,721 (GRCm39) |
L582Q |
possibly damaging |
Het |
Bbx |
C |
T |
16: 50,100,755 (GRCm39) |
E47K |
probably benign |
Het |
Bccip |
A |
G |
7: 133,315,960 (GRCm39) |
D72G |
probably damaging |
Het |
Bckdha |
A |
T |
7: 25,329,868 (GRCm39) |
|
probably null |
Het |
Bmerb1 |
A |
G |
16: 13,906,818 (GRCm39) |
D11G |
probably damaging |
Het |
Cald1 |
C |
T |
6: 34,735,069 (GRCm39) |
|
probably benign |
Het |
Cby2 |
A |
G |
14: 75,821,621 (GRCm39) |
S44P |
probably benign |
Het |
Cdk11b |
T |
C |
4: 155,733,880 (GRCm39) |
|
probably benign |
Het |
Cebpe |
G |
T |
14: 54,948,061 (GRCm39) |
R261S |
probably damaging |
Het |
Cep95 |
C |
T |
11: 106,681,554 (GRCm39) |
|
probably benign |
Het |
Chi3l1 |
T |
C |
1: 134,113,017 (GRCm39) |
Y150H |
probably benign |
Het |
Chrnd |
T |
C |
1: 87,120,559 (GRCm39) |
|
probably benign |
Het |
Clec4g |
T |
A |
8: 3,767,489 (GRCm39) |
|
probably benign |
Het |
Cog2 |
T |
C |
8: 125,275,407 (GRCm39) |
|
probably benign |
Het |
Coro7 |
A |
T |
16: 4,488,391 (GRCm39) |
L93Q |
probably damaging |
Het |
Csmd3 |
T |
C |
15: 47,460,217 (GRCm39) |
T3525A |
probably benign |
Het |
Ctsc |
G |
A |
7: 87,957,357 (GRCm39) |
|
probably benign |
Het |
Dnajc16 |
T |
C |
4: 141,495,318 (GRCm39) |
T467A |
probably benign |
Het |
Dnmt1 |
G |
A |
9: 20,819,916 (GRCm39) |
T1409I |
probably damaging |
Het |
Fam227b |
T |
A |
2: 125,965,994 (GRCm39) |
N144Y |
probably benign |
Het |
Fam83h |
A |
G |
15: 75,874,377 (GRCm39) |
S987P |
probably benign |
Het |
Fhod1 |
A |
T |
8: 106,063,857 (GRCm39) |
|
probably null |
Het |
Folr1 |
A |
G |
7: 101,513,130 (GRCm39) |
|
probably null |
Het |
Glis3 |
C |
T |
19: 28,241,255 (GRCm39) |
|
probably benign |
Het |
Gm10069 |
T |
C |
6: 128,449,688 (GRCm39) |
|
noncoding transcript |
Het |
Golgb1 |
G |
A |
16: 36,735,865 (GRCm39) |
R1704Q |
probably benign |
Het |
Gpr158 |
C |
A |
2: 21,815,479 (GRCm39) |
T624K |
probably benign |
Het |
Helz2 |
T |
C |
2: 180,878,200 (GRCm39) |
Y866C |
probably damaging |
Het |
Itpkb |
T |
A |
1: 180,160,330 (GRCm39) |
V152E |
probably damaging |
Het |
Kcnma1 |
C |
T |
14: 23,576,835 (GRCm39) |
R236H |
probably damaging |
Het |
Klhl32 |
A |
G |
4: 24,743,907 (GRCm39) |
V88A |
probably damaging |
Het |
Lct |
C |
T |
1: 128,219,755 (GRCm39) |
W1631* |
probably null |
Het |
Lipa |
T |
A |
19: 34,472,482 (GRCm39) |
K313M |
probably damaging |
Het |
Ly75 |
T |
C |
2: 60,152,163 (GRCm39) |
K1130R |
probably benign |
Het |
Mamdc2 |
C |
A |
19: 23,280,994 (GRCm39) |
E685* |
probably null |
Het |
Mdm1 |
A |
G |
10: 117,982,701 (GRCm39) |
E112G |
probably damaging |
Het |
Metrnl |
A |
T |
11: 121,606,826 (GRCm39) |
M212L |
probably benign |
Het |
Mettl2 |
A |
G |
11: 105,022,468 (GRCm39) |
|
probably benign |
Het |
Mxd3 |
A |
T |
13: 55,477,449 (GRCm39) |
L11Q |
probably damaging |
Het |
Myo7a |
A |
T |
7: 97,706,037 (GRCm39) |
Y1836N |
probably damaging |
Het |
Nsun7 |
A |
G |
5: 66,421,388 (GRCm39) |
Y118C |
probably benign |
Het |
Obscn |
G |
A |
11: 58,955,027 (GRCm39) |
T3962M |
possibly damaging |
Het |
Or13a20 |
A |
T |
7: 140,232,170 (GRCm39) |
I93F |
probably benign |
Het |
Or2d36 |
A |
G |
7: 106,746,919 (GRCm39) |
Y132C |
probably damaging |
Het |
Or5k3 |
C |
A |
16: 58,969,578 (GRCm39) |
R122S |
probably benign |
Het |
Osbpl11 |
T |
C |
16: 33,034,708 (GRCm39) |
|
probably benign |
Het |
Pcdhb22 |
A |
T |
18: 37,653,131 (GRCm39) |
D276V |
probably damaging |
Het |
Pik3cb |
A |
T |
9: 98,926,918 (GRCm39) |
D886E |
probably benign |
Het |
Pkhd1 |
T |
A |
1: 20,271,568 (GRCm39) |
Y2995F |
probably benign |
Het |
Raver2 |
C |
T |
4: 100,977,642 (GRCm39) |
|
probably benign |
Het |
Rhbdf1 |
A |
G |
11: 32,160,498 (GRCm39) |
L684P |
probably damaging |
Het |
Rufy2 |
C |
A |
10: 62,824,946 (GRCm39) |
L75M |
possibly damaging |
Het |
Sec22c |
A |
G |
9: 121,521,979 (GRCm39) |
F44L |
probably damaging |
Het |
Sephs1 |
A |
G |
2: 4,904,371 (GRCm39) |
T250A |
probably benign |
Het |
Serpina1a |
T |
C |
12: 103,822,002 (GRCm39) |
K310R |
probably benign |
Het |
Shoc1 |
A |
G |
4: 59,059,643 (GRCm39) |
Y1006H |
possibly damaging |
Het |
Sobp |
A |
G |
10: 43,033,993 (GRCm39) |
L111P |
probably damaging |
Het |
Sparcl1 |
G |
T |
5: 104,233,707 (GRCm39) |
Y547* |
probably null |
Het |
Spata31d1b |
G |
A |
13: 59,863,163 (GRCm39) |
A104T |
probably benign |
Het |
Spsb3 |
A |
G |
17: 25,106,878 (GRCm39) |
D184G |
probably damaging |
Het |
Sptan1 |
A |
T |
2: 29,893,354 (GRCm39) |
K1148* |
probably null |
Het |
Tdrd12 |
A |
G |
7: 35,228,671 (GRCm39) |
V17A |
possibly damaging |
Het |
Tlr9 |
A |
G |
9: 106,100,777 (GRCm39) |
T23A |
probably benign |
Het |
Tra2b |
A |
T |
16: 22,073,151 (GRCm39) |
|
probably benign |
Het |
Tspan15 |
A |
G |
10: 62,038,849 (GRCm39) |
|
probably benign |
Het |
Ttc41 |
A |
G |
10: 86,572,710 (GRCm39) |
N694S |
probably benign |
Het |
Ttn |
T |
G |
2: 76,597,813 (GRCm39) |
D19700A |
probably damaging |
Het |
Unc5d |
A |
G |
8: 29,209,854 (GRCm39) |
V422A |
possibly damaging |
Het |
Vmn2r80 |
C |
T |
10: 79,007,566 (GRCm39) |
T514I |
possibly damaging |
Het |
Zfp595 |
T |
C |
13: 67,464,917 (GRCm39) |
K452E |
possibly damaging |
Het |
Zfp607a |
A |
G |
7: 27,577,694 (GRCm39) |
K255E |
probably damaging |
Het |
Zxdc |
T |
G |
6: 90,347,398 (GRCm39) |
V253G |
probably 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 |
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 |
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'- AGACACTAGATGGTCCTCCACTTCC -3'
(R):5'- TGCTGATGGCATAGCGTAGTTTCTC -3'
Sequencing Primer
(F):5'- GTCTTAGTTGACCTAGAACAGGACTC -3'
(R):5'- ATAGCGTAGTTTCTCTCGCAG -3'
|
Posted On |
2013-05-29 |