Incidental Mutation 'R5564:Ube3b'
| ID |
436738 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ube3b
|
| Ensembl Gene |
ENSMUSG00000029577 |
| Gene Name |
ubiquitin protein ligase E3B |
| Synonyms |
|
| MMRRC Submission |
043121-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5564 (G1)
|
| Quality Score |
219 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
114380607-114421169 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 114389075 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 118
(V118A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138723
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074002]
[ENSMUST00000130169]
[ENSMUST00000151809]
|
| AlphaFold |
Q9ES34 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000074002
AA Change: V118A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000073652
Gene: ENSMUSG00000029577
AA Change: V118A
| 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 damaging
Transcript: ENSMUST00000130169
AA Change: V118A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138723
Gene: ENSMUSG00000029577
AA Change: V118A
| Domain | Start | End | E-Value | Type |
|---|
|
IQ
|
28 |
50 |
1.17e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151809
|
| SMART Domains |
Protein: ENSMUSP00000142943
Gene: ENSMUSG00000029577
| Domain | Start | End | E-Value | Type |
|---|
|
IQ
|
28 |
50 |
5.6e-5 |
SMART |
|
| Meta Mutation Damage Score |
0.1329 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.5%
|
| Validation Efficiency |
98% (57/58) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
G |
T |
11: 109,934,581 (GRCm38) |
L1598M |
probably benign |
Het |
| Adam4 |
T |
C |
12: 81,419,574 (GRCm38) |
T758A |
probably benign |
Het |
| B3galnt2 |
T |
C |
13: 13,995,229 (GRCm38) |
I424T |
probably damaging |
Het |
| Cacna1g |
T |
C |
11: 94,430,486 (GRCm38) |
Y1316C |
probably damaging |
Het |
| Cacna2d1 |
T |
C |
5: 16,312,519 (GRCm38) |
S388P |
probably damaging |
Het |
| Ccdc157 |
A |
G |
11: 4,148,765 (GRCm38) |
L247S |
probably damaging |
Het |
| Cdh8 |
A |
G |
8: 99,030,866 (GRCm38) |
I700T |
possibly damaging |
Het |
| Cdhr3 |
G |
T |
12: 33,048,986 (GRCm38) |
Y535* |
probably null |
Het |
| Clasp2 |
T |
C |
9: 113,812,768 (GRCm38) |
|
probably null |
Het |
| Col16a1 |
T |
A |
4: 130,053,358 (GRCm38) |
D165E |
probably damaging |
Het |
| Col9a1 |
A |
T |
1: 24,195,355 (GRCm38) |
|
probably benign |
Het |
| Cpa3 |
A |
T |
3: 20,242,143 (GRCm38) |
I10N |
possibly damaging |
Het |
| Cstf3 |
T |
A |
2: 104,609,002 (GRCm38) |
|
probably benign |
Het |
| Dnah3 |
C |
A |
7: 119,971,466 (GRCm38) |
|
probably null |
Het |
| E2f6 |
T |
C |
12: 16,824,705 (GRCm38) |
C263R |
probably benign |
Het |
| Eps8l2 |
C |
A |
7: 141,356,621 (GRCm38) |
Q288K |
possibly damaging |
Het |
| Fam193a |
T |
A |
5: 34,420,855 (GRCm38) |
V231D |
probably damaging |
Het |
| Gjc1 |
C |
T |
11: 102,800,203 (GRCm38) |
G325S |
probably benign |
Het |
| Gm5538 |
T |
C |
3: 59,752,092 (GRCm38) |
V322A |
probably benign |
Het |
| Gpatch8 |
T |
A |
11: 102,538,285 (GRCm38) |
E39D |
unknown |
Het |
| Gpr107 |
C |
T |
2: 31,152,363 (GRCm38) |
A2V |
probably damaging |
Het |
| Kansl3 |
G |
T |
1: 36,345,964 (GRCm38) |
H629N |
possibly damaging |
Het |
| Kcna10 |
C |
A |
3: 107,194,229 (GRCm38) |
H59N |
probably benign |
Het |
| Kitl |
A |
T |
10: 100,080,024 (GRCm38) |
E138D |
possibly damaging |
Het |
| Kpna2 |
T |
C |
11: 106,990,745 (GRCm38) |
K353R |
probably damaging |
Het |
| M1ap |
T |
A |
6: 82,981,817 (GRCm38) |
I143N |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,526,745 (GRCm38) |
S239P |
possibly damaging |
Het |
| Med13l |
T |
A |
5: 118,742,040 (GRCm38) |
S1066T |
probably damaging |
Het |
| Mettl23 |
G |
T |
11: 116,849,039 (GRCm38) |
E47* |
probably null |
Het |
| Olfr312 |
C |
T |
11: 58,831,213 (GRCm38) |
Q20* |
probably null |
Het |
| Olfr556 |
T |
C |
7: 102,670,226 (GRCm38) |
F102S |
probably damaging |
Het |
| Proca1 |
T |
A |
11: 78,201,873 (GRCm38) |
D48E |
possibly damaging |
Het |
| Rab34 |
T |
G |
11: 78,191,632 (GRCm38) |
V227G |
probably damaging |
Het |
| Rab7 |
A |
T |
6: 88,013,650 (GRCm38) |
L14Q |
probably damaging |
Het |
| Rasgef1c |
C |
T |
11: 49,957,107 (GRCm38) |
S23F |
probably benign |
Het |
| Rit1 |
A |
G |
3: 88,726,150 (GRCm38) |
|
probably benign |
Het |
| Scin |
T |
C |
12: 40,124,569 (GRCm38) |
T172A |
probably benign |
Het |
| Scmh1 |
C |
A |
4: 120,468,378 (GRCm38) |
N97K |
probably damaging |
Het |
| Skint6 |
T |
C |
4: 112,988,965 (GRCm38) |
E655G |
possibly damaging |
Het |
| Slc22a15 |
A |
G |
3: 101,864,589 (GRCm38) |
V243A |
probably benign |
Het |
| Smg1 |
A |
G |
7: 118,189,819 (GRCm38) |
|
probably benign |
Het |
| Smim7 |
C |
T |
8: 72,571,023 (GRCm38) |
G3R |
probably damaging |
Het |
| Snurf |
C |
T |
7: 59,995,534 (GRCm38) |
R44H |
possibly damaging |
Het |
| Snx13 |
G |
A |
12: 35,124,472 (GRCm38) |
A667T |
possibly damaging |
Het |
| Sowaha |
T |
G |
11: 53,478,763 (GRCm38) |
H382P |
probably damaging |
Het |
| Tbc1d2 |
C |
T |
4: 46,629,912 (GRCm38) |
G252R |
probably benign |
Het |
| Tmem259 |
G |
T |
10: 79,978,608 (GRCm38) |
|
probably null |
Het |
| Topbp1 |
A |
G |
9: 103,334,078 (GRCm38) |
T945A |
probably damaging |
Het |
| Tor1aip2 |
T |
C |
1: 156,063,561 (GRCm38) |
|
probably benign |
Het |
| Usp38 |
T |
C |
8: 80,985,088 (GRCm38) |
K773E |
probably damaging |
Het |
| Wnk1 |
G |
A |
6: 119,948,891 (GRCm38) |
|
probably benign |
Het |
| Zfp871 |
A |
G |
17: 32,775,868 (GRCm38) |
V111A |
possibly damaging |
Het |
|
| Other mutations in Ube3b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00754:Ube3b
|
APN |
5 |
114,415,287 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
IGL01154:Ube3b
|
APN |
5 |
114,406,252 (GRCm38) |
missense |
probably null |
0.86 |
|
IGL02632:Ube3b
|
APN |
5 |
114,398,841 (GRCm38) |
missense |
probably benign |
|
|
IGL02850:Ube3b
|
APN |
5 |
114,406,249 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02878:Ube3b
|
APN |
5 |
114,404,717 (GRCm38) |
splice site |
probably null |
|
|
IGL02881:Ube3b
|
APN |
5 |
114,412,884 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R0003:Ube3b
|
UTSW |
5 |
114,398,851 (GRCm38) |
missense |
probably benign |
0.17 |
|
R0071:Ube3b
|
UTSW |
5 |
114,419,497 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0071:Ube3b
|
UTSW |
5 |
114,419,497 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0076:Ube3b
|
UTSW |
5 |
114,408,217 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0076:Ube3b
|
UTSW |
5 |
114,408,217 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0111:Ube3b
|
UTSW |
5 |
114,390,376 (GRCm38) |
splice site |
probably benign |
|
|
R0309:Ube3b
|
UTSW |
5 |
114,419,469 (GRCm38) |
splice site |
probably benign |
|
|
R0718:Ube3b
|
UTSW |
5 |
114,402,555 (GRCm38) |
nonsense |
probably null |
|
|
R1344:Ube3b
|
UTSW |
5 |
114,418,575 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1350:Ube3b
|
UTSW |
5 |
114,406,137 (GRCm38) |
splice site |
probably null |
|
|
R1418:Ube3b
|
UTSW |
5 |
114,418,575 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1732:Ube3b
|
UTSW |
5 |
114,387,445 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1764:Ube3b
|
UTSW |
5 |
114,404,617 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R1975:Ube3b
|
UTSW |
5 |
114,399,865 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R2014:Ube3b
|
UTSW |
5 |
114,411,149 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2015:Ube3b
|
UTSW |
5 |
114,411,149 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2041:Ube3b
|
UTSW |
5 |
114,387,233 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2074:Ube3b
|
UTSW |
5 |
114,415,255 (GRCm38) |
missense |
probably benign |
0.14 |
|
R2202:Ube3b
|
UTSW |
5 |
114,389,074 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2205:Ube3b
|
UTSW |
5 |
114,389,074 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3826:Ube3b
|
UTSW |
5 |
114,399,951 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3829:Ube3b
|
UTSW |
5 |
114,399,951 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3830:Ube3b
|
UTSW |
5 |
114,399,951 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3927:Ube3b
|
UTSW |
5 |
114,415,680 (GRCm38) |
missense |
probably benign |
0.03 |
|
R3974:Ube3b
|
UTSW |
5 |
114,412,430 (GRCm38) |
missense |
probably benign |
0.05 |
|
R4049:Ube3b
|
UTSW |
5 |
114,412,870 (GRCm38) |
missense |
probably benign |
0.09 |
|
R4096:Ube3b
|
UTSW |
5 |
114,393,086 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R4261:Ube3b
|
UTSW |
5 |
114,398,428 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R4415:Ube3b
|
UTSW |
5 |
114,412,444 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4688:Ube3b
|
UTSW |
5 |
114,393,078 (GRCm38) |
missense |
probably benign |
0.03 |
|
R4779:Ube3b
|
UTSW |
5 |
114,404,717 (GRCm38) |
splice site |
probably null |
|
|
R4824:Ube3b
|
UTSW |
5 |
114,415,726 (GRCm38) |
splice site |
probably null |
|
|
R4868:Ube3b
|
UTSW |
5 |
114,398,427 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4953:Ube3b
|
UTSW |
5 |
114,401,410 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5013:Ube3b
|
UTSW |
5 |
114,407,641 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5057:Ube3b
|
UTSW |
5 |
114,406,257 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5117:Ube3b
|
UTSW |
5 |
114,419,631 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R5131:Ube3b
|
UTSW |
5 |
114,407,546 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5498:Ube3b
|
UTSW |
5 |
114,418,574 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5572:Ube3b
|
UTSW |
5 |
114,406,179 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5580:Ube3b
|
UTSW |
5 |
114,415,323 (GRCm38) |
missense |
probably benign |
|
|
R5596:Ube3b
|
UTSW |
5 |
114,406,160 (GRCm38) |
splice site |
probably null |
|
|
R5843:Ube3b
|
UTSW |
5 |
114,412,299 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5910:Ube3b
|
UTSW |
5 |
114,415,309 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
R6591:Ube3b
|
UTSW |
5 |
114,408,124 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6691:Ube3b
|
UTSW |
5 |
114,408,124 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7148:Ube3b
|
UTSW |
5 |
114,406,252 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R7334:Ube3b
|
UTSW |
5 |
114,415,681 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
R7438:Ube3b
|
UTSW |
5 |
114,418,626 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7438:Ube3b
|
UTSW |
5 |
114,415,284 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R7640:Ube3b
|
UTSW |
5 |
114,415,323 (GRCm38) |
missense |
probably benign |
|
|
R7825:Ube3b
|
UTSW |
5 |
114,401,312 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7958:Ube3b
|
UTSW |
5 |
114,401,423 (GRCm38) |
missense |
probably benign |
0.05 |
|
R8025:Ube3b
|
UTSW |
5 |
114,408,209 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8058:Ube3b
|
UTSW |
5 |
114,406,785 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
R8087:Ube3b
|
UTSW |
5 |
114,412,489 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8182:Ube3b
|
UTSW |
5 |
114,392,138 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R8322:Ube3b
|
UTSW |
5 |
114,402,686 (GRCm38) |
missense |
probably benign |
0.04 |
|
R8465:Ube3b
|
UTSW |
5 |
114,390,390 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8682:Ube3b
|
UTSW |
5 |
114,412,290 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8708:Ube3b
|
UTSW |
5 |
114,393,090 (GRCm38) |
missense |
probably benign |
0.34 |
|
R8758:Ube3b
|
UTSW |
5 |
114,415,200 (GRCm38) |
critical splice acceptor site |
probably benign |
|
|
R8784:Ube3b
|
UTSW |
5 |
114,388,739 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9058:Ube3b
|
UTSW |
5 |
114,415,239 (GRCm38) |
missense |
probably benign |
0.05 |
|
R9072:Ube3b
|
UTSW |
5 |
114,404,546 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9116:Ube3b
|
UTSW |
5 |
114,404,776 (GRCm38) |
intron |
probably benign |
|
|
R9537:Ube3b
|
UTSW |
5 |
114,387,184 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9596:Ube3b
|
UTSW |
5 |
114,389,110 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9632:Ube3b
|
UTSW |
5 |
114,415,309 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9710:Ube3b
|
UTSW |
5 |
114,415,309 (GRCm38) |
missense |
probably benign |
0.00 |
|
X0017:Ube3b
|
UTSW |
5 |
114,415,585 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTTGGGTAGATGGACAACG -3'
(R):5'- AGTCCTCTCCTGGCTAGTAGAC -3'
Sequencing Primer
(F):5'- AGATGGACAACGCCTCGTCTTC -3'
(R):5'- TGGCTAGTAGACCCCCGAAG -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation