Incidental Mutation 'R9116:Ube3b'
| ID |
731313 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ube3b
|
| Ensembl Gene |
ENSMUSG00000029577 |
| Gene Name |
ubiquitin protein ligase E3B |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9116 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
114518668-114559230 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
C to T
at 114542837 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074002]
[ENSMUST00000130169]
|
| AlphaFold |
Q9ES34 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074002
|
| SMART Domains |
Protein: ENSMUSP00000073652
Gene: ENSMUSG00000029577
| 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 |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (76/76) |
| 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 |
|---|
| Abca7 |
T |
A |
10: 79,838,973 (GRCm39) |
L689Q |
|
Het |
| Abcc2 |
G |
A |
19: 43,793,391 (GRCm39) |
V348M |
probably benign |
Het |
| Abhd5 |
T |
C |
9: 122,196,992 (GRCm39) |
S60P |
probably benign |
Het |
| Adamts10 |
C |
A |
17: 33,756,330 (GRCm39) |
H324Q |
probably benign |
Het |
| Akap1 |
A |
G |
11: 88,723,165 (GRCm39) |
L823P |
probably damaging |
Het |
| Aoc1 |
G |
A |
6: 48,885,522 (GRCm39) |
V676I |
probably damaging |
Het |
| Arhgef12 |
T |
C |
9: 42,893,241 (GRCm39) |
|
probably benign |
Het |
| Arl4d |
A |
C |
11: 101,557,620 (GRCm39) |
S49R |
possibly damaging |
Het |
| Atr |
A |
G |
9: 95,747,851 (GRCm39) |
I378V |
probably benign |
Het |
| Bicd1 |
G |
A |
6: 149,385,674 (GRCm39) |
V136I |
probably benign |
Het |
| Brd1 |
A |
T |
15: 88,585,374 (GRCm39) |
L820H |
possibly damaging |
Het |
| Cfap70 |
T |
C |
14: 20,497,590 (GRCm39) |
T55A |
probably benign |
Het |
| Cog7 |
G |
T |
7: 121,570,561 (GRCm39) |
N182K |
probably damaging |
Het |
| Col4a4 |
T |
A |
1: 82,431,752 (GRCm39) |
T1511S |
unknown |
Het |
| Cr2 |
A |
T |
1: 194,840,977 (GRCm39) |
Y438* |
probably null |
Het |
| Ctnnbl1 |
T |
A |
2: 157,648,623 (GRCm39) |
V198E |
probably damaging |
Het |
| Fam117b |
C |
T |
1: 60,018,456 (GRCm39) |
Q58* |
probably null |
Het |
| Fam171a2 |
A |
G |
11: 102,330,519 (GRCm39) |
Y288H |
probably damaging |
Het |
| Fam186a |
A |
T |
15: 99,840,472 (GRCm39) |
I1924K |
possibly damaging |
Het |
| Fancd2 |
A |
G |
6: 113,532,180 (GRCm39) |
I498V |
probably benign |
Het |
| Fat3 |
T |
A |
9: 15,909,421 (GRCm39) |
I2194F |
probably benign |
Het |
| Flg2 |
T |
C |
3: 93,109,591 (GRCm39) |
S540P |
unknown |
Het |
| Gbp9 |
T |
C |
5: 105,231,695 (GRCm39) |
Y297C |
|
Het |
| Gck |
T |
G |
11: 5,854,377 (GRCm39) |
N283H |
possibly damaging |
Het |
| Gm13941 |
A |
T |
2: 110,935,146 (GRCm39) |
L28Q |
unknown |
Het |
| Gpr155 |
A |
G |
2: 73,204,109 (GRCm39) |
I235T |
possibly damaging |
Het |
| Junb |
A |
C |
8: 85,704,052 (GRCm39) |
L336R |
probably damaging |
Het |
| Krt14 |
A |
T |
11: 100,095,904 (GRCm39) |
M218K |
probably benign |
Het |
| Leprotl1 |
A |
G |
8: 34,604,967 (GRCm39) |
V102A |
probably benign |
Het |
| Lrrc8d |
T |
C |
5: 105,961,908 (GRCm39) |
F773L |
probably damaging |
Het |
| Mad2l1bp |
G |
A |
17: 46,458,958 (GRCm39) |
R191C |
probably damaging |
Het |
| Man1c1 |
C |
T |
4: 134,311,705 (GRCm39) |
V274M |
possibly damaging |
Het |
| Mtor |
C |
A |
4: 148,637,198 (GRCm39) |
P2466T |
probably benign |
Het |
| Mycbpap |
C |
A |
11: 94,398,032 (GRCm39) |
|
probably benign |
Het |
| Myef2l |
G |
A |
3: 10,153,593 (GRCm39) |
V121M |
probably damaging |
Het |
| Myo18b |
T |
C |
5: 112,975,862 (GRCm39) |
E1329G |
probably damaging |
Het |
| Nipbl |
A |
T |
15: 8,380,340 (GRCm39) |
D817E |
probably benign |
Het |
| Nthl1 |
C |
T |
17: 24,853,753 (GRCm39) |
Q133* |
probably null |
Het |
| Nup133 |
A |
G |
8: 124,660,155 (GRCm39) |
M381T |
probably benign |
Het |
| Or13c7 |
T |
C |
4: 43,854,602 (GRCm39) |
C98R |
probably damaging |
Het |
| Or2j3 |
T |
C |
17: 38,615,654 (GRCm39) |
T233A |
probably benign |
Het |
| Or51t4 |
T |
C |
7: 102,598,527 (GRCm39) |
I285T |
possibly damaging |
Het |
| Or7e175 |
T |
C |
9: 20,048,633 (GRCm39) |
Y74H |
probably damaging |
Het |
| Or7g20 |
T |
C |
9: 18,946,773 (GRCm39) |
M118T |
probably damaging |
Het |
| Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Pmm1 |
C |
T |
15: 81,839,896 (GRCm39) |
R143H |
probably damaging |
Het |
| Pmpcb |
A |
T |
5: 21,961,608 (GRCm39) |
I422F |
probably damaging |
Het |
| Prpf8 |
T |
A |
11: 75,380,589 (GRCm39) |
H97Q |
possibly damaging |
Het |
| Psat1 |
A |
G |
19: 15,898,332 (GRCm39) |
L30P |
probably damaging |
Het |
| Rag1 |
T |
C |
2: 101,472,820 (GRCm39) |
D774G |
probably damaging |
Het |
| Rag1 |
C |
T |
2: 101,475,137 (GRCm39) |
A2T |
probably benign |
Het |
| Rccd1 |
G |
T |
7: 79,970,728 (GRCm39) |
F17L |
probably damaging |
Het |
| Rhobtb1 |
T |
A |
10: 69,106,579 (GRCm39) |
D443E |
probably damaging |
Het |
| Rnf13 |
A |
G |
3: 57,709,866 (GRCm39) |
|
probably null |
Het |
| Ryr2 |
A |
G |
13: 11,587,185 (GRCm39) |
S4699P |
possibly damaging |
Het |
| Scart1 |
A |
G |
7: 139,808,277 (GRCm39) |
T754A |
probably benign |
Het |
| Sdc3 |
T |
C |
4: 130,546,352 (GRCm39) |
V237A |
probably benign |
Het |
| Serinc5 |
T |
A |
13: 92,797,514 (GRCm39) |
|
probably benign |
Het |
| Sertad4 |
A |
G |
1: 192,528,973 (GRCm39) |
I281T |
probably benign |
Het |
| Shroom1 |
T |
C |
11: 53,354,490 (GRCm39) |
S137P |
probably damaging |
Het |
| Slurp1 |
C |
T |
15: 74,599,450 (GRCm39) |
G20D |
probably damaging |
Het |
| Sncb |
T |
A |
13: 54,910,512 (GRCm39) |
N75Y |
probably damaging |
Het |
| Spag8 |
C |
T |
4: 43,653,231 (GRCm39) |
G77S |
unknown |
Het |
| Spink14 |
A |
T |
18: 44,164,059 (GRCm39) |
I76F |
probably damaging |
Het |
| Srfbp1 |
A |
T |
18: 52,623,102 (GRCm39) |
E372D |
possibly damaging |
Het |
| Synpo |
A |
T |
18: 60,735,599 (GRCm39) |
N782K |
probably damaging |
Het |
| Syt7 |
T |
C |
19: 10,421,373 (GRCm39) |
M519T |
probably damaging |
Het |
| Tlr5 |
C |
T |
1: 182,802,160 (GRCm39) |
P488L |
probably benign |
Het |
| Tmod3 |
A |
T |
9: 75,412,202 (GRCm39) |
I315N |
probably damaging |
Het |
| Ttc12 |
T |
C |
9: 49,364,757 (GRCm39) |
M340V |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,710,959 (GRCm39) |
I8392F |
unknown |
Het |
| Ttn |
A |
G |
2: 76,769,232 (GRCm39) |
V2822A |
unknown |
Het |
| Ubr4 |
C |
A |
4: 139,145,785 (GRCm39) |
N238K |
|
Het |
| Vmn2r12 |
T |
C |
5: 109,233,885 (GRCm39) |
T776A |
probably damaging |
Het |
| Vps50 |
G |
A |
6: 3,588,091 (GRCm39) |
|
probably benign |
Het |
| Vwa3a |
A |
G |
7: 120,366,470 (GRCm39) |
D165G |
|
Het |
| Wdr17 |
T |
A |
8: 55,114,605 (GRCm39) |
H644L |
probably damaging |
Het |
| Zfp628 |
T |
C |
7: 4,924,202 (GRCm39) |
V808A |
probably benign |
Het |
| Zscan21 |
T |
A |
5: 138,123,937 (GRCm39) |
D205E |
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 |
|
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 |
|
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'- CTTACGTACCTGGATGACCTGC -3'
(R):5'- GTGCCACATGCTTTCTGAATG -3'
Sequencing Primer
(F):5'- TGGATGACCTGCTGCCCAAG -3'
(R):5'- ACATGCTTTCTGAATGTCTTCTTG -3'
|
| Posted On |
2022-10-21 |
Incidental Mutation