Incidental Mutation 'R1418:Ube3b'
ID |
159910 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ube3b
|
Ensembl Gene |
ENSMUSG00000029577 |
Gene Name |
ubiquitin protein ligase E3B |
Synonyms |
|
MMRRC Submission |
039474-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1418 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
114518668-114559230 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 114556636 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 989
(F989S)
|
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: F989S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000073652 Gene: ENSMUSG00000029577 AA Change: F989S
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 |
0.9699 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.5%
|
Validation Efficiency |
97% (92/95) |
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: 90 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5730596B20Rik |
T |
G |
6: 52,156,131 (GRCm39) |
|
probably benign |
Het |
Abtb3 |
C |
A |
10: 85,481,442 (GRCm39) |
T948K |
probably damaging |
Het |
Adamts12 |
T |
A |
15: 11,286,890 (GRCm39) |
W832R |
probably damaging |
Het |
Alb |
A |
G |
5: 90,612,061 (GRCm39) |
|
probably benign |
Het |
Arnt |
A |
G |
3: 95,377,710 (GRCm39) |
|
probably benign |
Het |
Asap2 |
A |
C |
12: 21,289,586 (GRCm39) |
N501H |
probably damaging |
Het |
Asap2 |
A |
G |
12: 21,289,590 (GRCm39) |
E499G |
probably damaging |
Het |
Atp5f1b |
C |
T |
10: 127,919,167 (GRCm39) |
|
probably benign |
Het |
Atrnl1 |
G |
A |
19: 57,924,137 (GRCm39) |
|
probably null |
Het |
AW554918 |
T |
G |
18: 25,472,756 (GRCm39) |
|
probably null |
Het |
Bhmt1b |
A |
G |
18: 87,775,458 (GRCm39) |
K327R |
probably damaging |
Het |
Bltp3a |
A |
G |
17: 28,113,551 (GRCm39) |
K1241R |
probably benign |
Het |
Bod1l |
G |
A |
5: 41,976,814 (GRCm39) |
T1500I |
probably damaging |
Het |
Cd101 |
A |
T |
3: 100,926,091 (GRCm39) |
Y209* |
probably null |
Het |
Cdk12 |
T |
A |
11: 98,132,611 (GRCm39) |
S1013R |
unknown |
Het |
Cntd1 |
T |
A |
11: 101,176,566 (GRCm39) |
L221Q |
possibly damaging |
Het |
Cntn4 |
G |
A |
6: 106,321,831 (GRCm39) |
|
probably null |
Het |
Col17a1 |
T |
A |
19: 47,659,944 (GRCm39) |
D336V |
probably damaging |
Het |
Creb3l4 |
A |
G |
3: 90,146,045 (GRCm39) |
I193T |
possibly damaging |
Het |
Cyp2d10 |
A |
T |
15: 82,290,106 (GRCm39) |
|
probably null |
Het |
Dcun1d3 |
A |
G |
7: 119,457,158 (GRCm39) |
F185L |
probably damaging |
Het |
Dnah17 |
T |
A |
11: 117,964,849 (GRCm39) |
N2365Y |
probably damaging |
Het |
Dnah7a |
T |
A |
1: 53,686,395 (GRCm39) |
|
probably benign |
Het |
Dnajc16 |
G |
T |
4: 141,495,052 (GRCm39) |
S520* |
probably null |
Het |
Dsg1b |
G |
T |
18: 20,530,487 (GRCm39) |
E381* |
probably null |
Het |
Dusp1 |
A |
G |
17: 26,727,293 (GRCm39) |
V2A |
probably benign |
Het |
Elf1 |
T |
C |
14: 79,798,215 (GRCm39) |
V34A |
probably damaging |
Het |
Endou |
A |
T |
15: 97,616,854 (GRCm39) |
|
probably benign |
Het |
Epn2 |
A |
G |
11: 61,413,912 (GRCm39) |
S419P |
probably benign |
Het |
Fat4 |
T |
C |
3: 38,944,962 (GRCm39) |
I1285T |
probably damaging |
Het |
Fcgr2b |
T |
C |
1: 170,788,650 (GRCm39) |
Y319C |
probably damaging |
Het |
Fhip2a |
G |
A |
19: 57,359,594 (GRCm39) |
A45T |
possibly damaging |
Het |
Gfra1 |
A |
C |
19: 58,226,849 (GRCm39) |
S461A |
possibly damaging |
Het |
Gli2 |
T |
G |
1: 118,769,666 (GRCm39) |
I629L |
probably damaging |
Het |
Gm17661 |
GA |
GAA |
2: 90,917,709 (GRCm38) |
|
noncoding transcript |
Het |
Gnas |
C |
T |
2: 174,187,007 (GRCm39) |
|
probably benign |
Het |
Gpx3 |
G |
A |
11: 54,800,422 (GRCm39) |
V207I |
probably damaging |
Het |
Hormad2 |
A |
G |
11: 4,359,005 (GRCm39) |
|
probably null |
Het |
Hsd17b4 |
G |
T |
18: 50,263,254 (GRCm39) |
|
probably benign |
Het |
Kmt2b |
A |
G |
7: 30,276,385 (GRCm39) |
|
probably benign |
Het |
Lrch1 |
T |
C |
14: 75,041,709 (GRCm39) |
|
probably benign |
Het |
Mark3 |
T |
C |
12: 111,594,271 (GRCm39) |
I307T |
possibly damaging |
Het |
Mroh8 |
G |
A |
2: 157,083,774 (GRCm39) |
|
probably benign |
Het |
Mtch2 |
A |
T |
2: 90,683,359 (GRCm39) |
|
probably benign |
Het |
Mtif2 |
G |
A |
11: 29,495,002 (GRCm39) |
V701I |
probably benign |
Het |
Mug1 |
C |
T |
6: 121,815,635 (GRCm39) |
S13L |
probably benign |
Het |
Naa25 |
T |
G |
5: 121,561,797 (GRCm39) |
L450R |
probably damaging |
Het |
Nr4a2 |
A |
T |
2: 56,998,336 (GRCm39) |
N543K |
probably damaging |
Het |
Nrp2 |
C |
T |
1: 62,822,491 (GRCm39) |
R695* |
probably null |
Het |
Or10ag53 |
G |
T |
2: 87,082,766 (GRCm39) |
G162C |
probably benign |
Het |
Or10s1 |
T |
A |
9: 39,985,768 (GRCm39) |
L59H |
probably damaging |
Het |
Or2z9 |
T |
C |
8: 72,854,231 (GRCm39) |
L209P |
probably damaging |
Het |
Otog |
G |
T |
7: 45,924,039 (GRCm39) |
A1133S |
probably damaging |
Het |
Pclo |
A |
T |
5: 14,728,144 (GRCm39) |
|
probably benign |
Het |
Pdcd11 |
A |
G |
19: 47,118,516 (GRCm39) |
D1794G |
probably damaging |
Het |
Pde4d |
C |
A |
13: 110,086,921 (GRCm39) |
S609* |
probably null |
Het |
Pkn3 |
T |
A |
2: 29,973,059 (GRCm39) |
V323E |
probably damaging |
Het |
Plekhd1 |
A |
G |
12: 80,739,659 (GRCm39) |
T3A |
probably benign |
Het |
Plekhg4 |
G |
A |
8: 106,105,742 (GRCm39) |
A736T |
probably benign |
Het |
Plppr2 |
C |
T |
9: 21,859,085 (GRCm39) |
P401S |
possibly damaging |
Het |
Poln |
A |
G |
5: 34,236,319 (GRCm39) |
V604A |
probably benign |
Het |
Pramel21 |
T |
A |
4: 143,342,604 (GRCm39) |
I237K |
probably benign |
Het |
Prkd2 |
A |
G |
7: 16,603,470 (GRCm39) |
D800G |
probably benign |
Het |
Ptprb |
A |
G |
10: 116,155,375 (GRCm39) |
T710A |
probably benign |
Het |
Qrfpr |
C |
A |
3: 36,234,244 (GRCm39) |
G366W |
probably damaging |
Het |
Qser1 |
C |
A |
2: 104,607,776 (GRCm39) |
A1471S |
probably damaging |
Het |
Ralbp1 |
A |
T |
17: 66,166,143 (GRCm39) |
|
probably benign |
Het |
Rars1 |
A |
T |
11: 35,700,567 (GRCm39) |
Y505N |
probably damaging |
Het |
Sec24b |
T |
C |
3: 129,801,072 (GRCm39) |
N408S |
probably damaging |
Het |
Slc38a9 |
T |
C |
13: 112,826,714 (GRCm39) |
C151R |
probably benign |
Het |
Smcr8 |
T |
C |
11: 60,668,858 (GRCm39) |
I2T |
probably damaging |
Het |
Smtnl2 |
T |
C |
11: 72,292,247 (GRCm39) |
T301A |
probably damaging |
Het |
Smyd1 |
G |
A |
6: 71,239,151 (GRCm39) |
T13I |
probably benign |
Het |
Sp110 |
G |
A |
1: 85,522,106 (GRCm39) |
H66Y |
probably benign |
Het |
Szt2 |
A |
T |
4: 118,244,976 (GRCm39) |
S1187T |
probably benign |
Het |
Tdo2 |
A |
G |
3: 81,868,775 (GRCm39) |
|
probably null |
Het |
Tfap2a |
T |
A |
13: 40,870,680 (GRCm39) |
M405L |
possibly damaging |
Het |
Thap12 |
A |
G |
7: 98,366,037 (GRCm39) |
D735G |
probably damaging |
Het |
Tmem132b |
C |
A |
5: 125,715,313 (GRCm39) |
Q341K |
probably benign |
Het |
Tnip3 |
T |
C |
6: 65,574,413 (GRCm39) |
V88A |
probably benign |
Het |
Trim45 |
G |
T |
3: 100,834,614 (GRCm39) |
M432I |
probably benign |
Het |
Ttn |
A |
G |
2: 76,565,755 (GRCm39) |
V28199A |
possibly damaging |
Het |
Ubox5 |
A |
G |
2: 130,442,210 (GRCm39) |
L159P |
probably damaging |
Het |
Uevld |
A |
T |
7: 46,587,758 (GRCm39) |
V314E |
possibly damaging |
Het |
Urb1 |
T |
C |
16: 90,566,354 (GRCm39) |
M1478V |
probably damaging |
Het |
Utrn |
C |
T |
10: 12,589,094 (GRCm39) |
V871I |
probably benign |
Het |
Vat1l |
T |
C |
8: 115,009,101 (GRCm39) |
|
probably benign |
Het |
Vmn1r205 |
T |
C |
13: 22,777,049 (GRCm39) |
K18E |
probably benign |
Het |
Zfp518a |
T |
A |
19: 40,902,803 (GRCm39) |
Y911N |
probably damaging |
Het |
Zfyve28 |
A |
G |
5: 34,374,590 (GRCm39) |
C475R |
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 |
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 |
|
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'- AGTTCCAGAGAGTGGCACCATAGAG -3'
(R):5'- TCAGCAGCCATGAAAGACTGTCC -3'
Sequencing Primer
(F):5'- CCATAGAGACATGTGATGTGTCC -3'
(R):5'- GCCATGAAAGACTGTCCTAATTAC -3'
|
Posted On |
2014-03-14 |