Incidental Mutation 'R8058:Ube3b'
| ID |
619529 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ube3b
|
| Ensembl Gene |
ENSMUSG00000029577 |
| Gene Name |
ubiquitin protein ligase E3B |
| Synonyms |
|
| MMRRC Submission |
067495-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8058 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
114518668-114559230 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 114544846 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 596
(V596A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000073652
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074002]
[ENSMUST00000130169]
|
| AlphaFold |
Q9ES34 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000074002
AA Change: V596A
PolyPhen 2
Score 0.582 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000073652
Gene: ENSMUSG00000029577
AA Change: V596A
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
C |
T |
4: 53,081,954 (GRCm39) |
D769N |
possibly damaging |
Het |
| Abcb6 |
A |
G |
1: 75,156,653 (GRCm39) |
L37P |
possibly damaging |
Het |
| Abcg1 |
G |
T |
17: 31,324,504 (GRCm39) |
A250S |
probably benign |
Het |
| Acsf3 |
C |
T |
8: 123,540,373 (GRCm39) |
H524Y |
possibly damaging |
Het |
| Agbl4 |
A |
G |
4: 110,518,039 (GRCm39) |
K110R |
unknown |
Het |
| Arfgap2 |
G |
A |
2: 91,096,644 (GRCm39) |
|
probably null |
Het |
| B4galt4 |
T |
C |
16: 38,586,383 (GRCm39) |
|
probably null |
Het |
| Bex6 |
G |
T |
16: 32,005,224 (GRCm39) |
D11Y |
probably damaging |
Het |
| Bhlhe40 |
TG |
TGG |
6: 108,641,818 (GRCm39) |
254 |
probably null |
Het |
| C8b |
A |
T |
4: 104,647,811 (GRCm39) |
D334V |
probably damaging |
Het |
| Capn11 |
T |
C |
17: 45,954,681 (GRCm39) |
Q152R |
probably null |
Het |
| Ccdc171 |
C |
A |
4: 83,499,003 (GRCm39) |
Q234K |
probably damaging |
Het |
| Cemip2 |
C |
A |
19: 21,829,695 (GRCm39) |
A1268E |
probably benign |
Het |
| Clec2h |
A |
G |
6: 128,650,966 (GRCm39) |
D82G |
probably benign |
Het |
| Creld2 |
A |
G |
15: 88,710,632 (GRCm39) |
D349G |
probably damaging |
Het |
| D430041D05Rik |
A |
G |
2: 103,979,128 (GRCm39) |
*1415Q |
probably null |
Het |
| Dnmt3a |
T |
C |
12: 3,952,768 (GRCm39) |
V755A |
possibly damaging |
Het |
| Doc2a |
G |
T |
7: 126,450,164 (GRCm39) |
V201L |
probably benign |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Fbn1 |
G |
T |
2: 125,193,889 (GRCm39) |
D1359E |
possibly damaging |
Het |
| Fcnb |
T |
C |
2: 27,969,707 (GRCm39) |
Y120C |
probably damaging |
Het |
| Fras1 |
T |
A |
5: 96,842,778 (GRCm39) |
D1665E |
probably benign |
Het |
| Fry |
A |
T |
5: 150,419,232 (GRCm39) |
D524V |
|
Het |
| Garem1 |
A |
G |
18: 21,281,621 (GRCm39) |
L245P |
probably damaging |
Het |
| Gdf6 |
A |
G |
4: 9,859,712 (GRCm39) |
S265G |
probably benign |
Het |
| Gm5591 |
T |
C |
7: 38,218,363 (GRCm39) |
I837V |
probably benign |
Het |
| Gpr61 |
T |
C |
3: 108,058,211 (GRCm39) |
Y150C |
probably damaging |
Het |
| Grin2b |
A |
T |
6: 135,710,225 (GRCm39) |
L1107Q |
probably damaging |
Het |
| Helb |
A |
G |
10: 119,941,483 (GRCm39) |
S402P |
probably benign |
Het |
| Htt |
A |
G |
5: 34,977,444 (GRCm39) |
T777A |
probably benign |
Het |
| Iffo2 |
A |
G |
4: 139,341,164 (GRCm39) |
D383G |
probably benign |
Het |
| Ikzf3 |
G |
T |
11: 98,407,753 (GRCm39) |
Y29* |
probably null |
Het |
| Ints2 |
A |
T |
11: 86,146,179 (GRCm39) |
M143K |
probably benign |
Het |
| Jmjd1c |
T |
C |
10: 67,090,274 (GRCm39) |
V2292A |
not run |
Het |
| Katnip |
A |
G |
7: 125,442,188 (GRCm39) |
E725G |
probably benign |
Het |
| Lamb1 |
C |
A |
12: 31,353,046 (GRCm39) |
Q916K |
probably benign |
Het |
| Lrrtm4 |
G |
A |
6: 79,999,528 (GRCm39) |
M313I |
probably benign |
Het |
| Lum |
A |
G |
10: 97,404,425 (GRCm39) |
I107V |
probably benign |
Het |
| Ly6h |
T |
C |
15: 75,437,061 (GRCm39) |
E126G |
probably benign |
Het |
| Map3k5 |
G |
A |
10: 20,007,860 (GRCm39) |
V1230M |
probably damaging |
Het |
| Mcoln1 |
T |
C |
8: 3,558,378 (GRCm39) |
F211L |
probably benign |
Het |
| Mink1 |
G |
A |
11: 70,494,594 (GRCm39) |
W258* |
probably null |
Het |
| Muc16 |
G |
T |
9: 18,571,298 (GRCm39) |
S407* |
probably null |
Het |
| Ngef |
G |
A |
1: 87,473,744 (GRCm39) |
Q13* |
probably null |
Het |
| Nxpe5 |
T |
A |
5: 138,237,573 (GRCm39) |
Y44* |
probably null |
Het |
| Or13d1 |
T |
A |
4: 52,971,106 (GRCm39) |
L162M |
probably benign |
Het |
| Or4a77 |
A |
G |
2: 89,487,671 (GRCm39) |
V38A |
probably benign |
Het |
| Or5t9 |
A |
G |
2: 86,660,052 (GRCm39) |
R319G |
probably benign |
Het |
| Or7e178 |
T |
A |
9: 20,225,476 (GRCm39) |
I247F |
probably damaging |
Het |
| Or8g24 |
A |
T |
9: 38,989,862 (GRCm39) |
Y60N |
probably damaging |
Het |
| Or8h8 |
C |
A |
2: 86,753,151 (GRCm39) |
A242S |
probably benign |
Het |
| Orc3 |
C |
A |
4: 34,595,223 (GRCm39) |
E249* |
probably null |
Het |
| Otogl |
A |
T |
10: 107,598,287 (GRCm39) |
C2288S |
probably damaging |
Het |
| Pde1b |
A |
G |
15: 103,433,238 (GRCm39) |
E249G |
probably damaging |
Het |
| Phf2 |
T |
C |
13: 48,976,558 (GRCm39) |
E219G |
unknown |
Het |
| Rbm19 |
T |
A |
5: 120,278,440 (GRCm39) |
|
probably null |
Het |
| Rcc2 |
G |
A |
4: 140,429,586 (GRCm39) |
C40Y |
probably benign |
Het |
| Sbk2 |
A |
G |
7: 4,960,289 (GRCm39) |
Y294H |
possibly damaging |
Het |
| Selenoo |
T |
C |
15: 88,976,942 (GRCm39) |
I198T |
possibly damaging |
Het |
| Sema3f |
T |
C |
9: 107,559,800 (GRCm39) |
E729G |
probably benign |
Het |
| Serpinb1b |
A |
T |
13: 33,269,293 (GRCm39) |
T9S |
probably benign |
Het |
| Sfxn4 |
T |
C |
19: 60,832,690 (GRCm39) |
T235A |
probably damaging |
Het |
| Shc4 |
A |
T |
2: 125,491,154 (GRCm39) |
Y461* |
probably null |
Het |
| Slc22a15 |
T |
C |
3: 101,771,926 (GRCm39) |
D391G |
probably benign |
Het |
| Slc22a23 |
G |
T |
13: 34,489,167 (GRCm39) |
Y239* |
probably null |
Het |
| Slc24a2 |
G |
A |
4: 86,909,750 (GRCm39) |
A656V |
probably damaging |
Het |
| Slc2a5 |
A |
T |
4: 150,227,590 (GRCm39) |
I470F |
probably damaging |
Het |
| Sptbn4 |
T |
C |
7: 27,063,694 (GRCm39) |
E2249G |
possibly damaging |
Het |
| Tas2r139 |
A |
T |
6: 42,118,753 (GRCm39) |
Q295L |
probably benign |
Het |
| Tdrd7 |
C |
A |
4: 46,034,309 (GRCm39) |
S1051R |
probably benign |
Het |
| Tnfrsf18 |
G |
A |
4: 156,112,802 (GRCm39) |
A163T |
probably benign |
Het |
| Vmn2r10 |
T |
A |
5: 109,149,955 (GRCm39) |
N363I |
probably benign |
Het |
| Vmn2r15 |
T |
A |
5: 109,440,956 (GRCm39) |
I301F |
probably damaging |
Het |
| Yod1 |
C |
T |
1: 130,646,806 (GRCm39) |
Q228* |
probably null |
Het |
| Zfp433 |
A |
T |
10: 81,556,124 (GRCm39) |
K209* |
probably null |
Het |
| Zfp865 |
G |
A |
7: 5,033,445 (GRCm39) |
V477I |
probably benign |
Het |
| Zfp937 |
T |
A |
2: 150,081,421 (GRCm39) |
Y484N |
probably benign |
Het |
| Zfp951 |
T |
G |
5: 104,962,312 (GRCm39) |
H418P |
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 |
|
|
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 |
|
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'- GTGCATTCCCTCAAAGATACCC -3'
(R):5'- TGCCCAGACAGGAGCTTAAAC -3'
Sequencing Primer
(F):5'- AGATACCCAGGCCCTAAGG -3'
(R):5'- TTCTTTCCAGACAAACGGACAGG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation