Incidental Mutation 'R1344:Ube3b'
| ID |
200715 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ube3b
|
| Ensembl Gene |
ENSMUSG00000029577 |
| Gene Name |
ubiquitin protein ligase E3B |
| Synonyms |
|
| MMRRC Submission |
039409-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1344 (G1)
|
| Quality Score |
225 |
|
Status
|
Not 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: 97.4%
- 3x: 96.8%
- 10x: 95.2%
- 20x: 92.2%
|
| Validation Efficiency |
|
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730596B20Rik |
T |
G |
6: 52,156,131 (GRCm39) |
|
probably benign |
Het |
| Aco1 |
T |
C |
4: 40,179,008 (GRCm39) |
Y336H |
probably damaging |
Het |
| Adamts12 |
T |
A |
15: 11,286,890 (GRCm39) |
W832R |
probably damaging |
Het |
| Asxl2 |
A |
G |
12: 3,543,790 (GRCm39) |
K320E |
probably damaging |
Het |
| Atrnl1 |
G |
A |
19: 57,924,137 (GRCm39) |
|
probably null |
Het |
| B4galnt2 |
A |
C |
11: 95,760,181 (GRCm39) |
I282S |
probably benign |
Het |
| Bcl2l13 |
T |
C |
6: 120,853,288 (GRCm39) |
I191T |
probably benign |
Het |
| Bltp3a |
A |
G |
17: 28,113,551 (GRCm39) |
K1241R |
probably benign |
Het |
| Cd101 |
A |
T |
3: 100,926,091 (GRCm39) |
Y209* |
probably null |
Het |
| Cd109 |
A |
T |
9: 78,579,832 (GRCm39) |
|
probably null |
Het |
| Cdc34 |
G |
A |
10: 79,521,134 (GRCm39) |
A128T |
probably damaging |
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 |
| Col12a1 |
T |
A |
9: 79,606,837 (GRCm39) |
K529* |
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 |
| Dlec1 |
G |
A |
9: 118,959,085 (GRCm39) |
E910K |
probably benign |
Het |
| Dnajc19 |
T |
A |
3: 34,112,161 (GRCm39) |
N128I |
probably damaging |
Het |
| Dusp1 |
A |
G |
17: 26,727,293 (GRCm39) |
V2A |
probably benign |
Het |
| Eea1 |
G |
A |
10: 95,830,861 (GRCm39) |
|
probably null |
Het |
| Elf1 |
T |
C |
14: 79,798,215 (GRCm39) |
V34A |
probably damaging |
Het |
| Extl1 |
T |
C |
4: 134,086,552 (GRCm39) |
D501G |
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 |
| Fxr2 |
A |
G |
11: 69,539,710 (GRCm39) |
H247R |
possibly damaging |
Het |
| Gask1a |
A |
T |
9: 121,807,452 (GRCm39) |
H532L |
probably 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 |
| Gpx3 |
G |
A |
11: 54,800,422 (GRCm39) |
V207I |
probably damaging |
Het |
| Helz2 |
T |
C |
2: 180,879,389 (GRCm39) |
D743G |
possibly damaging |
Het |
| Hormad2 |
A |
G |
11: 4,359,005 (GRCm39) |
|
probably null |
Het |
| Ifitm1 |
C |
T |
7: 140,548,263 (GRCm39) |
T32M |
probably benign |
Het |
| Iqca1 |
C |
A |
1: 90,070,453 (GRCm39) |
G133V |
probably null |
Het |
| Lrit2 |
A |
G |
14: 36,790,513 (GRCm39) |
N64S |
probably benign |
Het |
| Lsm14a |
A |
T |
7: 34,052,982 (GRCm39) |
D322E |
probably damaging |
Het |
| Macf1 |
T |
G |
4: 123,327,246 (GRCm39) |
R4752S |
probably damaging |
Het |
| Mark3 |
T |
C |
12: 111,594,271 (GRCm39) |
I307T |
possibly damaging |
Het |
| Mpdz |
T |
A |
4: 81,226,556 (GRCm39) |
T1360S |
probably benign |
Het |
| Mtif2 |
G |
A |
11: 29,495,002 (GRCm39) |
V701I |
probably benign |
Het |
| Myh3 |
A |
G |
11: 66,983,158 (GRCm39) |
E895G |
probably benign |
Het |
| Ncan |
A |
C |
8: 70,560,819 (GRCm39) |
I716R |
probably benign |
Het |
| Ncor2 |
C |
T |
5: 125,102,510 (GRCm39) |
R1867K |
probably damaging |
Het |
| Oas1d |
C |
T |
5: 121,052,959 (GRCm39) |
L5F |
probably damaging |
Het |
| Or10s1 |
T |
A |
9: 39,985,768 (GRCm39) |
L59H |
probably damaging |
Het |
| Or11h4b |
T |
A |
14: 50,918,315 (GRCm39) |
M259L |
probably benign |
Het |
| Or13a17 |
T |
C |
7: 140,271,712 (GRCm39) |
V298A |
probably damaging |
Het |
| Or3a4 |
A |
T |
11: 73,945,038 (GRCm39) |
C182* |
probably null |
Het |
| Otog |
G |
T |
7: 45,924,039 (GRCm39) |
A1133S |
probably damaging |
Het |
| Oxtr |
C |
T |
6: 112,454,138 (GRCm39) |
R42Q |
probably benign |
Het |
| Pcdhb2 |
G |
A |
18: 37,428,710 (GRCm39) |
V228I |
possibly damaging |
Het |
| Pdcd11 |
A |
G |
19: 47,118,516 (GRCm39) |
D1794G |
probably damaging |
Het |
| Pde1c |
T |
C |
6: 56,338,752 (GRCm39) |
I27V |
probably benign |
Het |
| Pde4d |
C |
A |
13: 110,086,921 (GRCm39) |
S609* |
probably null |
Het |
| Piezo2 |
T |
A |
18: 63,154,325 (GRCm39) |
I2485F |
probably damaging |
Het |
| Plekhd1 |
A |
G |
12: 80,739,659 (GRCm39) |
T3A |
probably benign |
Het |
| Plscr1 |
C |
T |
9: 92,141,357 (GRCm39) |
T15I |
unknown |
Het |
| Rd3 |
T |
C |
1: 191,717,262 (GRCm39) |
*106R |
probably null |
Het |
| Rnf125 |
A |
G |
18: 21,114,288 (GRCm39) |
I97V |
possibly damaging |
Het |
| Sec24b |
T |
C |
3: 129,801,072 (GRCm39) |
N408S |
probably damaging |
Het |
| Sf3b3 |
G |
C |
8: 111,564,935 (GRCm39) |
A291G |
probably damaging |
Het |
| Simc1 |
T |
C |
13: 54,698,292 (GRCm39) |
V403A |
probably damaging |
Het |
| Slc38a9 |
T |
C |
13: 112,826,714 (GRCm39) |
C151R |
probably benign |
Het |
| Slco1a8 |
A |
G |
6: 141,931,344 (GRCm39) |
S474P |
probably damaging |
Het |
| Slitrk5 |
A |
G |
14: 111,917,821 (GRCm39) |
S482G |
probably benign |
Het |
| Smyd1 |
G |
A |
6: 71,239,151 (GRCm39) |
T13I |
probably benign |
Het |
| Speer4a3 |
T |
A |
5: 26,158,107 (GRCm39) |
T82S |
probably benign |
Het |
| Stoml2 |
T |
A |
4: 43,028,197 (GRCm39) |
I344F |
probably benign |
Het |
| Tet1 |
C |
T |
10: 62,650,300 (GRCm39) |
R1636H |
probably damaging |
Het |
| Thap12 |
A |
G |
7: 98,366,037 (GRCm39) |
D735G |
probably damaging |
Het |
| Tnip3 |
T |
C |
6: 65,574,413 (GRCm39) |
V88A |
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 |
| Ust |
C |
A |
10: 8,173,954 (GRCm39) |
V184F |
possibly damaging |
Het |
| Wdr95 |
G |
A |
5: 149,511,563 (GRCm39) |
C421Y |
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 |
|
|
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'- AGTTCCAGAGAGTGGCACCATAGAG -3'
(R):5'- TCAGCAGCCATGAAAGACTGTCC -3'
Sequencing Primer
(F):5'- CCATAGAGACATGTGATGTGTCC -3'
(R):5'- GCCATGAAAGACTGTCCTAATTAC -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation