Incidental Mutation 'R7640:Ube3b'
| ID |
590181 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ube3b
|
| Ensembl Gene |
ENSMUSG00000029577 |
| Gene Name |
ubiquitin protein ligase E3B |
| Synonyms |
|
| MMRRC Submission |
045698-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7640 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
114518668-114559230 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 114553384 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 919
(T919A)
|
| 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: T919A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000073652
Gene: ENSMUSG00000029577
AA Change: T919A
| 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 |
probably benign
Transcript: ENSMUST00000196651
|
| SMART Domains |
Protein: ENSMUSP00000143455
Gene: ENSMUSG00000029577
| Domain | Start | End | E-Value | Type |
|---|
|
HECTc
|
122 |
495 |
1.1e-112 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
99% (68/69) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700013G24Rik |
A |
T |
4: 137,181,905 (GRCm39) |
N20I |
probably damaging |
Het |
| 4930558K02Rik |
A |
G |
1: 161,784,718 (GRCm39) |
S74P |
probably benign |
Het |
| Abcb6 |
A |
T |
1: 75,151,489 (GRCm39) |
|
probably null |
Het |
| Adamts14 |
C |
A |
10: 61,081,836 (GRCm39) |
A234S |
probably benign |
Het |
| Ankrd42 |
A |
G |
7: 92,268,843 (GRCm39) |
S167P |
probably benign |
Het |
| Ap3m1 |
T |
C |
14: 21,088,243 (GRCm39) |
I272V |
probably benign |
Het |
| Armt1 |
T |
C |
10: 4,403,572 (GRCm39) |
F219S |
probably damaging |
Het |
| Atr |
T |
G |
9: 95,789,346 (GRCm39) |
|
probably null |
Het |
| Cep72 |
G |
A |
13: 74,206,607 (GRCm39) |
Q72* |
probably null |
Het |
| Clock |
G |
T |
5: 76,396,225 (GRCm39) |
L175M |
possibly damaging |
Het |
| Cnmd |
T |
A |
14: 79,898,974 (GRCm39) |
Y26F |
possibly damaging |
Het |
| Col6a6 |
A |
T |
9: 105,662,943 (GRCm39) |
M198K |
possibly damaging |
Het |
| Cuta |
C |
T |
17: 27,157,396 (GRCm39) |
V135I |
probably benign |
Het |
| Ddx41 |
A |
T |
13: 55,682,052 (GRCm39) |
M241K |
possibly damaging |
Het |
| Dnajc22 |
A |
G |
15: 98,998,995 (GRCm39) |
N60S |
probably damaging |
Het |
| Drc3 |
A |
G |
11: 60,279,730 (GRCm39) |
M432V |
probably benign |
Het |
| Dync2i2 |
T |
G |
2: 29,921,780 (GRCm39) |
D527A |
probably benign |
Het |
| Eef1d |
C |
A |
15: 75,774,556 (GRCm39) |
G368C |
probably damaging |
Het |
| En2 |
A |
T |
5: 28,375,164 (GRCm39) |
K236* |
probably null |
Het |
| Fas |
A |
G |
19: 34,284,564 (GRCm39) |
T24A |
possibly damaging |
Het |
| Golga2 |
T |
C |
2: 32,196,251 (GRCm39) |
V930A |
probably benign |
Het |
| Gprin2 |
G |
T |
14: 33,917,710 (GRCm39) |
A20D |
probably benign |
Het |
| Ighv14-4 |
A |
T |
12: 114,140,064 (GRCm39) |
C115* |
probably null |
Het |
| Impdh2 |
T |
C |
9: 108,442,380 (GRCm39) |
Y459H |
possibly damaging |
Het |
| Klhdc7b |
G |
T |
15: 89,271,463 (GRCm39) |
V124L |
possibly damaging |
Het |
| L2hgdh |
A |
T |
12: 69,768,131 (GRCm39) |
Y122* |
probably null |
Het |
| Lamc2 |
A |
T |
1: 153,012,550 (GRCm39) |
I708N |
possibly damaging |
Het |
| Large2 |
T |
C |
2: 92,205,050 (GRCm39) |
M1V |
probably null |
Het |
| Lrit2 |
T |
C |
14: 36,794,081 (GRCm39) |
W382R |
probably damaging |
Het |
| Mcee |
T |
A |
7: 64,061,716 (GRCm39) |
V173E |
probably damaging |
Het |
| Mcph1 |
T |
A |
8: 18,682,342 (GRCm39) |
V493E |
probably benign |
Het |
| Mfap4 |
A |
G |
11: 61,377,913 (GRCm39) |
N118D |
probably damaging |
Het |
| Mknk2 |
T |
C |
10: 80,504,400 (GRCm39) |
S301G |
probably benign |
Het |
| Mlf1 |
G |
A |
3: 67,300,266 (GRCm39) |
M94I |
possibly damaging |
Het |
| Mrc2 |
T |
A |
11: 105,223,121 (GRCm39) |
S455T |
possibly damaging |
Het |
| Mrgprb5 |
T |
G |
7: 47,818,007 (GRCm39) |
I243L |
probably benign |
Het |
| Muc4 |
C |
A |
16: 32,580,479 (GRCm39) |
P360T |
|
Het |
| Nat10 |
G |
A |
2: 103,573,435 (GRCm39) |
A354V |
probably damaging |
Het |
| Nscme3l |
T |
A |
19: 5,553,035 (GRCm39) |
S249C |
probably damaging |
Het |
| Nts |
T |
C |
10: 102,326,165 (GRCm39) |
Q7R |
possibly damaging |
Het |
| Oas1b |
T |
C |
5: 120,959,479 (GRCm39) |
L288P |
probably damaging |
Het |
| Or4a66 |
T |
A |
2: 88,531,230 (GRCm39) |
I148L |
probably benign |
Het |
| Or51k2 |
A |
T |
7: 103,596,150 (GRCm39) |
I126F |
probably damaging |
Het |
| Or5w11 |
A |
G |
2: 87,459,436 (GRCm39) |
I94V |
probably benign |
Het |
| Or8k30 |
A |
G |
2: 86,339,287 (GRCm39) |
I161M |
possibly damaging |
Het |
| Otoa |
A |
G |
7: 120,744,849 (GRCm39) |
E869G |
probably damaging |
Het |
| Pcdhac2 |
T |
C |
18: 37,277,578 (GRCm39) |
L186P |
probably damaging |
Het |
| Plekhh2 |
A |
G |
17: 84,918,204 (GRCm39) |
E1271G |
possibly damaging |
Het |
| Pmepa1 |
C |
T |
2: 173,117,956 (GRCm39) |
A8T |
probably benign |
Het |
| Pramel24 |
T |
C |
4: 143,453,276 (GRCm39) |
V128A |
probably benign |
Het |
| Rc3h2 |
A |
G |
2: 37,267,861 (GRCm39) |
|
probably null |
Het |
| Rlf |
T |
A |
4: 121,003,998 (GRCm39) |
M1771L |
possibly damaging |
Het |
| Rpap1 |
G |
A |
2: 119,594,891 (GRCm39) |
P1372L |
possibly damaging |
Het |
| Rragd |
A |
T |
4: 32,983,527 (GRCm39) |
D22V |
probably benign |
Het |
| Sema3f |
A |
T |
9: 107,560,774 (GRCm39) |
S644R |
probably benign |
Het |
| Sp110 |
G |
A |
1: 85,506,813 (GRCm39) |
R417C |
probably benign |
Het |
| Spata31h1 |
T |
A |
10: 82,130,490 (GRCm39) |
N840I |
probably damaging |
Het |
| Specc1l |
T |
A |
10: 75,093,703 (GRCm39) |
N717K |
probably damaging |
Het |
| Sphkap |
C |
T |
1: 83,256,649 (GRCm39) |
D367N |
possibly damaging |
Het |
| Tbc1d21 |
C |
T |
9: 58,268,544 (GRCm39) |
V272M |
probably damaging |
Het |
| Tlcd4 |
A |
G |
3: 121,028,690 (GRCm39) |
|
probably null |
Het |
| Tmem132c |
A |
G |
5: 127,640,070 (GRCm39) |
D747G |
probably damaging |
Het |
| Trim2 |
C |
A |
3: 84,098,213 (GRCm39) |
V372F |
probably benign |
Het |
| Ttc34 |
A |
G |
4: 154,945,841 (GRCm39) |
T292A |
probably benign |
Het |
| Zfhx4 |
T |
C |
3: 5,477,540 (GRCm39) |
I3385T |
probably benign |
Het |
| Zfp423 |
T |
C |
8: 88,507,905 (GRCm39) |
K813R |
probably damaging |
Het |
| Zfp850 |
T |
C |
7: 27,688,634 (GRCm39) |
T525A |
probably benign |
Het |
| Zfp873 |
T |
C |
10: 81,896,109 (GRCm39) |
I280T |
possibly damaging |
Het |
| Zkscan7 |
A |
G |
9: 122,725,121 (GRCm39) |
T697A |
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 |
|
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 |
|
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'- AGGCTCATCTCTTAGCATGC -3'
(R):5'- TGGGCTGTCATCAGGATACCAG -3'
Sequencing Primer
(F):5'- ATCTCTTAGCATGCTTGGCAG -3'
(R):5'- GGATACCAGAGTCACTCTATGTCAG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation