Incidental Mutation 'R0003:Ube3b'
ID |
32310 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ube3b
|
Ensembl Gene |
ENSMUSG00000029577 |
Gene Name |
ubiquitin protein ligase E3B |
Synonyms |
|
MMRRC Submission |
038299-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0003 (G1)
|
Quality Score |
110 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
114518668-114559230 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 114536912 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 303
(S303R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000073652
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074002]
[ENSMUST00000130169]
|
AlphaFold |
Q9ES34 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000074002
AA Change: S303R
PolyPhen 2
Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000073652 Gene: ENSMUSG00000029577 AA Change: S303R
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 |
unknown
Transcript: ENSMUST00000196651
AA Change: S22R
|
SMART Domains |
Protein: ENSMUSP00000143455 Gene: ENSMUSG00000029577 AA Change: S22R
Domain | Start | End | E-Value | Type |
HECTc
|
122 |
495 |
1.1e-112 |
SMART |
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 90.7%
|
Validation Efficiency |
94% (82/87) |
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: 89 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam19 |
T |
A |
11: 46,019,616 (GRCm39) |
C439S |
probably damaging |
Het |
Adnp2 |
T |
C |
18: 80,174,205 (GRCm39) |
Y68C |
probably damaging |
Het |
Ahctf1 |
A |
T |
1: 179,591,038 (GRCm39) |
D1247E |
probably benign |
Het |
Alms1 |
T |
A |
6: 85,606,192 (GRCm39) |
M2614K |
possibly damaging |
Het |
Alx3 |
A |
G |
3: 107,512,292 (GRCm39) |
H310R |
probably damaging |
Het |
Ambra1 |
C |
T |
2: 91,741,773 (GRCm39) |
T1016M |
probably damaging |
Het |
Ankrd35 |
A |
G |
3: 96,591,331 (GRCm39) |
E539G |
probably damaging |
Het |
Aptx |
A |
G |
4: 40,695,145 (GRCm39) |
|
probably benign |
Het |
Arsi |
C |
T |
18: 61,050,058 (GRCm39) |
R314C |
probably benign |
Het |
Atp1a3 |
T |
C |
7: 24,688,989 (GRCm39) |
|
probably benign |
Het |
Avl9 |
G |
T |
6: 56,713,468 (GRCm39) |
R242L |
probably benign |
Het |
Bicra |
G |
T |
7: 15,705,812 (GRCm39) |
T1543K |
probably benign |
Het |
Bltp2 |
T |
A |
11: 78,177,404 (GRCm39) |
V1903E |
possibly damaging |
Het |
Bzw2 |
A |
C |
12: 36,180,014 (GRCm39) |
I71S |
probably damaging |
Het |
Camk2a |
C |
T |
18: 61,093,079 (GRCm39) |
A302V |
probably damaging |
Het |
Ccdc12 |
A |
G |
9: 110,485,665 (GRCm39) |
E12G |
possibly damaging |
Het |
Cd300lb |
A |
T |
11: 114,819,164 (GRCm39) |
F19Y |
probably benign |
Het |
Clcn3 |
A |
T |
8: 61,380,330 (GRCm39) |
C535* |
probably null |
Het |
Cntnap5c |
A |
G |
17: 58,506,012 (GRCm39) |
T679A |
probably benign |
Het |
Cpsf7 |
G |
A |
19: 10,516,993 (GRCm39) |
S365N |
possibly damaging |
Het |
Cspg4b |
T |
A |
13: 113,505,310 (GRCm39) |
S2146R |
probably benign |
Het |
Cyp20a1 |
T |
C |
1: 60,426,285 (GRCm39) |
|
probably benign |
Het |
Decr2 |
A |
T |
17: 26,302,027 (GRCm39) |
N234K |
probably benign |
Het |
Def8 |
G |
A |
8: 124,183,234 (GRCm39) |
A278T |
probably damaging |
Het |
Dnah12 |
T |
C |
14: 26,494,601 (GRCm39) |
F1300L |
probably damaging |
Het |
Dock1 |
T |
C |
7: 134,331,793 (GRCm39) |
|
probably benign |
Het |
Dpy19l4 |
A |
T |
4: 11,267,619 (GRCm39) |
N440K |
probably damaging |
Het |
Eprs1 |
T |
C |
1: 185,146,588 (GRCm39) |
V1206A |
probably damaging |
Het |
Exoc6b |
A |
G |
6: 84,831,681 (GRCm39) |
|
probably null |
Het |
Fam184b |
A |
G |
5: 45,712,536 (GRCm39) |
|
probably benign |
Het |
Fcho1 |
A |
T |
8: 72,161,597 (GRCm39) |
S858T |
probably damaging |
Het |
Fgfr1 |
A |
G |
8: 26,058,214 (GRCm39) |
D430G |
possibly damaging |
Het |
Fmnl3 |
T |
C |
15: 99,219,013 (GRCm39) |
T807A |
probably damaging |
Het |
Gabra5 |
T |
C |
7: 57,063,476 (GRCm39) |
Y316C |
probably damaging |
Het |
Gh |
A |
G |
11: 106,192,346 (GRCm39) |
L16P |
probably damaging |
Het |
Glipr2 |
A |
T |
4: 43,970,532 (GRCm39) |
I87F |
probably damaging |
Het |
Glrb |
T |
A |
3: 80,763,221 (GRCm39) |
I259F |
probably damaging |
Het |
Gpr63 |
T |
C |
4: 25,007,651 (GRCm39) |
L125P |
probably damaging |
Het |
Grb2 |
A |
G |
11: 115,546,251 (GRCm39) |
Y37H |
probably damaging |
Het |
Haus2 |
G |
A |
2: 120,449,449 (GRCm39) |
|
probably benign |
Het |
Hmgcr |
T |
C |
13: 96,788,653 (GRCm39) |
N749S |
probably damaging |
Het |
Igf1r |
T |
C |
7: 67,814,990 (GRCm39) |
V297A |
probably damaging |
Het |
Il12rb2 |
G |
T |
6: 67,293,270 (GRCm39) |
P69H |
probably damaging |
Het |
Ints3 |
C |
A |
3: 90,315,818 (GRCm39) |
M315I |
probably benign |
Het |
Izumo2 |
C |
T |
7: 44,364,833 (GRCm39) |
T116I |
probably benign |
Het |
Kctd19 |
A |
C |
8: 106,121,993 (GRCm39) |
Y185D |
probably damaging |
Het |
Lama4 |
A |
G |
10: 38,936,218 (GRCm39) |
N631S |
possibly damaging |
Het |
Lama5 |
T |
G |
2: 179,819,872 (GRCm39) |
|
probably null |
Het |
Lamc1 |
A |
C |
1: 153,138,185 (GRCm39) |
L223R |
probably damaging |
Het |
Lgr4 |
G |
A |
2: 109,828,010 (GRCm39) |
|
probably null |
Het |
Loxhd1 |
T |
C |
18: 77,427,196 (GRCm39) |
L398P |
probably damaging |
Het |
Mapk9 |
T |
A |
11: 49,757,866 (GRCm39) |
D103E |
possibly damaging |
Het |
Marchf6 |
T |
C |
15: 31,469,678 (GRCm39) |
|
probably benign |
Het |
Mlxipl |
G |
A |
5: 135,162,043 (GRCm39) |
|
probably benign |
Het |
Mrgbp |
C |
A |
2: 180,225,231 (GRCm39) |
D62E |
probably benign |
Het |
Mtap |
A |
T |
4: 89,070,235 (GRCm39) |
|
probably benign |
Het |
Myt1 |
G |
A |
2: 181,443,664 (GRCm39) |
G497S |
probably damaging |
Het |
Naa25 |
T |
G |
5: 121,545,247 (GRCm39) |
|
probably benign |
Het |
Nfat5 |
C |
T |
8: 108,065,707 (GRCm39) |
R156W |
probably damaging |
Het |
Nkpd1 |
T |
C |
7: 19,253,852 (GRCm39) |
C73R |
probably benign |
Het |
Nup210l |
T |
C |
3: 90,027,218 (GRCm39) |
I200T |
probably damaging |
Het |
Nvl |
C |
A |
1: 180,941,698 (GRCm39) |
D581Y |
probably damaging |
Het |
Or51a6 |
T |
C |
7: 102,604,185 (GRCm39) |
M208V |
probably benign |
Het |
Or51f2 |
T |
C |
7: 102,527,068 (GRCm39) |
V247A |
probably benign |
Het |
Or5t17 |
T |
A |
2: 86,832,710 (GRCm39) |
Y132* |
probably null |
Het |
Or8b1c |
A |
G |
9: 38,384,612 (GRCm39) |
T190A |
probably benign |
Het |
Or9q1 |
T |
C |
19: 13,805,050 (GRCm39) |
T237A |
probably damaging |
Het |
Pcdh7 |
G |
T |
5: 58,070,590 (GRCm39) |
E1089D |
probably benign |
Het |
Pik3cd |
A |
G |
4: 149,740,836 (GRCm39) |
|
probably null |
Het |
Plekhh2 |
A |
T |
17: 84,864,820 (GRCm39) |
K69N |
probably damaging |
Het |
Ptgdr2 |
G |
A |
19: 10,917,792 (GRCm39) |
C103Y |
probably damaging |
Het |
Rrad |
A |
C |
8: 105,355,299 (GRCm39) |
H236Q |
probably benign |
Het |
Rslcan18 |
C |
T |
13: 67,246,533 (GRCm39) |
A236T |
probably benign |
Het |
Ryr2 |
C |
A |
13: 11,839,265 (GRCm39) |
D503Y |
probably damaging |
Het |
Siglec1 |
T |
C |
2: 130,916,980 (GRCm39) |
T1092A |
probably benign |
Het |
Siglecf |
A |
G |
7: 43,005,350 (GRCm39) |
T437A |
probably benign |
Het |
Spta1 |
A |
T |
1: 174,032,839 (GRCm39) |
Q965H |
probably damaging |
Het |
Stk10 |
A |
T |
11: 32,539,460 (GRCm39) |
E280V |
probably benign |
Het |
Tfg |
T |
C |
16: 56,511,351 (GRCm39) |
Y326C |
possibly damaging |
Het |
Tpp2 |
T |
A |
1: 43,999,299 (GRCm39) |
S358T |
possibly damaging |
Het |
Trim25 |
G |
T |
11: 88,906,598 (GRCm39) |
V437L |
probably benign |
Het |
Ttn |
T |
C |
2: 76,574,027 (GRCm39) |
D25622G |
probably damaging |
Het |
Ush2a |
T |
A |
1: 188,310,688 (GRCm39) |
V2088D |
probably damaging |
Het |
Vmn2r103 |
A |
G |
17: 20,032,241 (GRCm39) |
T672A |
probably damaging |
Het |
Wdr11 |
G |
T |
7: 129,200,785 (GRCm39) |
G79C |
probably damaging |
Het |
Wdr89 |
T |
A |
12: 75,679,367 (GRCm39) |
T296S |
probably benign |
Het |
Zdhhc24 |
T |
A |
19: 4,930,402 (GRCm39) |
L179M |
possibly damaging |
Het |
Zfp981 |
T |
C |
4: 146,622,217 (GRCm39) |
C381R |
probably damaging |
Het |
Zim1 |
A |
G |
7: 6,679,947 (GRCm39) |
I572T |
probably benign |
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 |
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 |
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'- GTTTGCCAGACTCCGAAAGCAAAG -3'
(R):5'- GCACCCATGCAGTCATACTCTACTC -3'
Sequencing Primer
(F):5'- GTAGACAGTAGCTGATAGCATCCTC -3'
(R):5'- ATACTCTACTCGTGGCTCTAACTG -3'
|
Posted On |
2013-05-09 |