Incidental Mutation 'R8322:Ube3b'
| ID |
642003 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ube3b
|
| Ensembl Gene |
ENSMUSG00000029577 |
| Gene Name |
ubiquitin protein ligase E3B |
| Synonyms |
|
| MMRRC Submission |
067798-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8322 (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 114540747 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 485
(T485A)
|
| 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: T485A
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000073652
Gene: ENSMUSG00000029577
AA Change: T485A
| 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: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (64/64) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030K09Rik |
A |
G |
8: 73,199,219 (GRCm39) |
S209G |
probably benign |
Het |
| Aars1 |
T |
C |
8: 111,772,160 (GRCm39) |
L450P |
possibly damaging |
Het |
| Acsbg1 |
G |
A |
9: 54,523,268 (GRCm39) |
T453M |
probably benign |
Het |
| Aff3 |
A |
G |
1: 38,220,742 (GRCm39) |
S1100P |
possibly damaging |
Het |
| B4galt5 |
G |
A |
2: 167,190,849 (GRCm39) |
A35V |
probably benign |
Het |
| C1qtnf1 |
T |
C |
11: 118,338,683 (GRCm39) |
S118P |
probably benign |
Het |
| Ceacam20 |
A |
T |
7: 19,705,628 (GRCm39) |
E206D |
probably damaging |
Het |
| Celsr3 |
T |
C |
9: 108,725,993 (GRCm39) |
L3066P |
probably damaging |
Het |
| Cers3 |
T |
G |
7: 66,439,386 (GRCm39) |
L299R |
probably damaging |
Het |
| Cfhr2 |
G |
T |
1: 139,738,696 (GRCm39) |
H288Q |
probably benign |
Het |
| Cnot1 |
A |
T |
8: 96,496,472 (GRCm39) |
M278K |
probably benign |
Het |
| Cnot10 |
T |
C |
9: 114,456,537 (GRCm39) |
E166G |
probably damaging |
Het |
| Ctsd |
T |
A |
7: 141,939,197 (GRCm39) |
D76V |
probably damaging |
Het |
| Cyp1a1 |
T |
A |
9: 57,610,003 (GRCm39) |
F472L |
probably damaging |
Het |
| Dusp19 |
T |
A |
2: 80,454,635 (GRCm39) |
D118E |
probably damaging |
Het |
| Dusp29 |
A |
T |
14: 21,752,950 (GRCm39) |
D65E |
probably damaging |
Het |
| Eif2ak3 |
C |
A |
6: 70,855,903 (GRCm39) |
R236S |
probably damaging |
Het |
| Fam169a |
A |
G |
13: 97,259,260 (GRCm39) |
T439A |
probably benign |
Het |
| Flg |
T |
C |
3: 93,191,639 (GRCm39) |
Y11H |
unknown |
Het |
| Fn1 |
T |
A |
1: 71,667,618 (GRCm39) |
I792L |
probably benign |
Het |
| Fzd7 |
T |
C |
1: 59,522,242 (GRCm39) |
S42P |
probably benign |
Het |
| Gimap3 |
A |
G |
6: 48,742,370 (GRCm39) |
S187P |
possibly damaging |
Het |
| Gli1 |
C |
A |
10: 127,167,477 (GRCm39) |
R592L |
probably damaging |
Het |
| Glt8d2 |
A |
T |
10: 82,498,037 (GRCm39) |
I124N |
probably damaging |
Het |
| Hbp1 |
C |
T |
12: 31,983,387 (GRCm39) |
D356N |
probably damaging |
Het |
| Hif1a |
T |
C |
12: 73,986,373 (GRCm39) |
S367P |
probably benign |
Het |
| Hspg2 |
C |
G |
4: 137,246,290 (GRCm39) |
P1023A |
possibly damaging |
Het |
| Itpr1 |
C |
A |
6: 108,365,190 (GRCm39) |
N880K |
probably benign |
Het |
| Kank1 |
T |
C |
19: 25,355,842 (GRCm39) |
|
probably benign |
Het |
| Kat2a |
T |
C |
11: 100,603,116 (GRCm39) |
T39A |
unknown |
Het |
| Kcnk2 |
T |
A |
1: 189,072,046 (GRCm39) |
Q98L |
probably benign |
Het |
| Kcnn4 |
G |
A |
7: 24,083,545 (GRCm39) |
G409S |
probably benign |
Het |
| Klrb1 |
T |
A |
6: 128,690,576 (GRCm39) |
I49F |
probably damaging |
Het |
| Larp4 |
G |
A |
15: 99,908,237 (GRCm39) |
V573I |
probably benign |
Het |
| Lrpprc |
A |
G |
17: 85,047,496 (GRCm39) |
|
probably null |
Het |
| Mybl1 |
A |
G |
1: 9,746,506 (GRCm39) |
S385P |
probably damaging |
Het |
| Nup62 |
T |
C |
7: 44,478,440 (GRCm39) |
S152P |
possibly damaging |
Het |
| Obi1 |
A |
T |
14: 104,717,091 (GRCm39) |
D427E |
probably damaging |
Het |
| Or11a4 |
A |
G |
17: 37,536,241 (GRCm39) |
Y75C |
probably damaging |
Het |
| Pcdh12 |
G |
A |
18: 38,414,630 (GRCm39) |
Q832* |
probably null |
Het |
| Pcid2 |
A |
G |
8: 13,128,555 (GRCm39) |
I368T |
probably damaging |
Het |
| Pcnx4 |
T |
A |
12: 72,603,437 (GRCm39) |
F492I |
probably damaging |
Het |
| Pi4ka |
A |
G |
16: 17,175,437 (GRCm39) |
Y464H |
|
Het |
| Plekhg5 |
T |
G |
4: 152,189,201 (GRCm39) |
S260R |
possibly damaging |
Het |
| Prkdc |
T |
A |
16: 15,532,005 (GRCm39) |
|
probably benign |
Het |
| Prr14 |
A |
T |
7: 127,072,999 (GRCm39) |
E115D |
probably benign |
Het |
| Rab3gap2 |
A |
T |
1: 184,978,877 (GRCm39) |
N285Y |
probably benign |
Het |
| Rhot1 |
T |
A |
11: 80,148,386 (GRCm39) |
C609S |
possibly damaging |
Het |
| Rnf123 |
T |
C |
9: 107,945,706 (GRCm39) |
Q360R |
probably benign |
Het |
| Rrp12 |
T |
C |
19: 41,868,658 (GRCm39) |
T562A |
probably benign |
Het |
| Rundc1 |
G |
A |
11: 101,322,992 (GRCm39) |
G317D |
probably benign |
Het |
| Rusf1 |
C |
T |
7: 127,889,786 (GRCm39) |
R1H |
probably damaging |
Het |
| Slc14a1 |
A |
T |
18: 78,145,656 (GRCm39) |
I426N |
possibly damaging |
Het |
| Slc23a1 |
C |
T |
18: 35,755,588 (GRCm39) |
G436E |
probably damaging |
Het |
| Slc45a3 |
A |
G |
1: 131,905,523 (GRCm39) |
D182G |
probably damaging |
Het |
| Sos1 |
A |
T |
17: 80,715,728 (GRCm39) |
F1010I |
probably damaging |
Het |
| Tap1 |
A |
G |
17: 34,412,163 (GRCm39) |
E456G |
probably damaging |
Het |
| Tha1 |
A |
T |
11: 117,759,493 (GRCm39) |
V332E |
probably damaging |
Het |
| Tmem18 |
T |
A |
12: 30,638,517 (GRCm39) |
I93N |
probably damaging |
Het |
| Tnrc18 |
A |
G |
5: 142,711,767 (GRCm39) |
F2664S |
probably damaging |
Het |
| Tpm3 |
T |
A |
3: 89,981,011 (GRCm39) |
|
probably benign |
Het |
| Ttc3 |
A |
G |
16: 94,255,351 (GRCm39) |
E1615G |
probably damaging |
Het |
| Vmn2r92 |
A |
G |
17: 18,386,886 (GRCm39) |
Y75C |
probably damaging |
Het |
| Zfp169 |
T |
C |
13: 48,644,575 (GRCm39) |
D184G |
unknown |
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 |
|
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 |
|
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'- AGTGGCTGAACTGCTTCCTG -3'
(R):5'- GCAGAGCAAGACTAAGATAGCTTAC -3'
Sequencing Primer
(F):5'- GCTGAACTGCTTCCTGTGTCTTC -3'
(R):5'- CAGGCAGACTCGAGGTTG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation