Incidental Mutation 'R8682:Ube3b'
| ID |
661798 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ube3b
|
| Ensembl Gene |
ENSMUSG00000029577 |
| Gene Name |
ubiquitin protein ligase E3B |
| Synonyms |
|
| MMRRC Submission |
068537-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8682 (G1)
|
| Quality Score |
194.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
114518668-114559230 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 114550351 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 832
(L832P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000073652
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074002]
[ENSMUST00000130169]
|
| AlphaFold |
Q9ES34 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000074002
AA Change: L832P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000073652
Gene: ENSMUSG00000029577
AA Change: L832P
| 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: 99.9%
- 3x: 99.8%
- 10x: 98.9%
- 20x: 95.7%
|
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810065E05Rik |
T |
A |
11: 58,314,725 (GRCm39) |
L141Q |
probably null |
Het |
| Abtb2 |
A |
T |
2: 103,397,720 (GRCm39) |
T217S |
probably benign |
Het |
| Adcy1 |
T |
C |
11: 7,111,328 (GRCm39) |
I873T |
probably damaging |
Het |
| Angpt4 |
A |
G |
2: 151,769,005 (GRCm39) |
M172V |
probably benign |
Het |
| Apaf1 |
A |
T |
10: 90,831,532 (GRCm39) |
V1194D |
probably damaging |
Het |
| Arhgap30 |
T |
C |
1: 171,234,970 (GRCm39) |
S479P |
probably benign |
Het |
| Asah2 |
C |
T |
19: 32,030,277 (GRCm39) |
V132M |
probably damaging |
Het |
| Bmp10 |
A |
G |
6: 87,410,541 (GRCm39) |
|
probably null |
Het |
| Bsn |
T |
C |
9: 107,983,368 (GRCm39) |
Y790C |
|
Het |
| Cacna2d1 |
C |
A |
5: 16,558,837 (GRCm39) |
R732S |
possibly damaging |
Het |
| Casr |
A |
T |
16: 36,315,784 (GRCm39) |
F762Y |
possibly damaging |
Het |
| Cbln1 |
T |
C |
8: 88,198,735 (GRCm39) |
D45G |
possibly damaging |
Het |
| Cd177 |
A |
T |
7: 24,459,438 (GRCm39) |
M61K |
possibly damaging |
Het |
| Cdh11 |
T |
C |
8: 103,377,348 (GRCm39) |
I433V |
probably benign |
Het |
| Cdhr5 |
A |
G |
7: 140,855,899 (GRCm39) |
|
probably null |
Het |
| Col12a1 |
T |
A |
9: 79,568,358 (GRCm39) |
K1622I |
probably benign |
Het |
| Cyp2d9 |
A |
G |
15: 82,337,917 (GRCm39) |
D103G |
probably damaging |
Het |
| Dync2i1 |
A |
T |
12: 116,188,610 (GRCm39) |
H661Q |
probably damaging |
Het |
| Eif4a3l1 |
A |
G |
6: 136,306,027 (GRCm39) |
T163A |
possibly damaging |
Het |
| Fem1b |
A |
T |
9: 62,704,432 (GRCm39) |
L276* |
probably null |
Het |
| Fggy |
T |
A |
4: 95,700,358 (GRCm39) |
V343E |
probably damaging |
Het |
| Flt3 |
A |
G |
5: 147,320,265 (GRCm39) |
V33A |
probably benign |
Het |
| Grn |
T |
C |
11: 102,325,646 (GRCm39) |
Y288H |
probably benign |
Het |
| Grtp1 |
G |
A |
8: 13,229,499 (GRCm39) |
R272W |
probably damaging |
Het |
| H2-Aa |
A |
G |
17: 34,502,734 (GRCm39) |
I144T |
possibly damaging |
Het |
| Herc1 |
A |
G |
9: 66,370,130 (GRCm39) |
D469G |
|
Het |
| Hsf2 |
G |
A |
10: 57,381,267 (GRCm39) |
E286K |
possibly damaging |
Het |
| Hydin |
A |
G |
8: 111,035,798 (GRCm39) |
E163G |
probably damaging |
Het |
| Il6ra |
A |
G |
3: 89,793,976 (GRCm39) |
I224T |
possibly damaging |
Het |
| Itih3 |
T |
A |
14: 30,642,673 (GRCm39) |
I204F |
possibly damaging |
Het |
| Kcnj9 |
A |
T |
1: 172,153,680 (GRCm39) |
M148K |
possibly damaging |
Het |
| Lepr |
T |
G |
4: 101,649,269 (GRCm39) |
V890G |
probably benign |
Het |
| Mslnl |
A |
G |
17: 25,965,962 (GRCm39) |
D612G |
probably benign |
Het |
| Myl2 |
T |
A |
5: 122,244,798 (GRCm39) |
V156D |
probably damaging |
Het |
| Neb |
C |
A |
2: 52,136,857 (GRCm39) |
W3208L |
probably damaging |
Het |
| Neto2 |
T |
C |
8: 86,367,295 (GRCm39) |
Y511C |
probably benign |
Het |
| Obi1 |
G |
T |
14: 104,717,669 (GRCm39) |
R235S |
probably damaging |
Het |
| Obox2 |
C |
A |
7: 15,130,912 (GRCm39) |
T48K |
possibly damaging |
Het |
| Or14a259 |
C |
T |
7: 86,013,373 (GRCm39) |
M57I |
probably damaging |
Het |
| Or51f2 |
T |
A |
7: 102,526,646 (GRCm39) |
F106L |
probably benign |
Het |
| Or5aq6 |
A |
T |
2: 86,923,390 (GRCm39) |
M117K |
possibly damaging |
Het |
| Osbpl6 |
C |
G |
2: 76,407,425 (GRCm39) |
H486D |
probably benign |
Het |
| Pfkfb3 |
T |
C |
2: 11,489,144 (GRCm39) |
K264E |
probably benign |
Het |
| Phf11 |
G |
A |
14: 59,496,033 (GRCm39) |
T27I |
probably benign |
Het |
| Pla2r1 |
T |
A |
2: 60,253,120 (GRCm39) |
T1324S |
possibly damaging |
Het |
| Plekhg1 |
A |
T |
10: 3,897,523 (GRCm39) |
Y495F |
|
Het |
| Ppp2r5d |
T |
C |
17: 46,997,989 (GRCm39) |
K225E |
probably benign |
Het |
| Ptpn11 |
T |
C |
5: 121,306,053 (GRCm39) |
D64G |
possibly damaging |
Het |
| Ptprs |
A |
G |
17: 56,742,849 (GRCm39) |
I431T |
probably damaging |
Het |
| Rapgef5 |
T |
C |
12: 117,545,432 (GRCm39) |
S100P |
probably benign |
Het |
| Shh |
T |
A |
5: 28,663,058 (GRCm39) |
H370L |
probably benign |
Het |
| Siah3 |
A |
T |
14: 75,763,043 (GRCm39) |
H98L |
possibly damaging |
Het |
| Sim2 |
C |
T |
16: 93,924,192 (GRCm39) |
H446Y |
probably benign |
Het |
| Skint4 |
T |
C |
4: 111,993,237 (GRCm39) |
I320T |
possibly damaging |
Het |
| Sorcs1 |
A |
T |
19: 50,367,398 (GRCm39) |
N221K |
probably damaging |
Het |
| Sox6 |
T |
C |
7: 115,076,191 (GRCm39) |
S816G |
probably damaging |
Het |
| Sphkap |
T |
C |
1: 83,256,997 (GRCm39) |
T251A |
probably benign |
Het |
| Stard9 |
T |
C |
2: 120,533,796 (GRCm39) |
V3351A |
possibly damaging |
Het |
| Tbc1d15 |
A |
G |
10: 115,046,195 (GRCm39) |
V436A |
probably benign |
Het |
| Thsd7b |
A |
T |
1: 129,688,011 (GRCm39) |
K641* |
probably null |
Het |
| Tmc5 |
G |
T |
7: 118,269,925 (GRCm39) |
V892F |
possibly damaging |
Het |
| Tpsab1 |
T |
A |
17: 25,562,685 (GRCm39) |
H238L |
probably benign |
Het |
| Trank1 |
A |
G |
9: 111,194,412 (GRCm39) |
N812S |
probably benign |
Het |
| Trio |
T |
A |
15: 27,905,278 (GRCm39) |
N163Y |
unknown |
Het |
| Ttc39d |
A |
G |
17: 80,524,693 (GRCm39) |
T451A |
probably benign |
Het |
| Vmn2r15 |
C |
A |
5: 109,441,938 (GRCm39) |
C165F |
probably damaging |
Het |
| Vmn2r90 |
T |
C |
17: 17,932,344 (GRCm39) |
F84L |
possibly damaging |
Het |
| Wdr95 |
C |
T |
5: 149,518,752 (GRCm39) |
T531I |
possibly damaging |
Het |
| Zcrb1 |
C |
A |
15: 93,284,118 (GRCm39) |
G191V |
probably benign |
Het |
| Zfp111 |
G |
A |
7: 23,897,983 (GRCm39) |
P544S |
probably damaging |
Het |
| Zfyve9 |
T |
C |
4: 108,576,539 (GRCm39) |
S181G |
probably benign |
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 |
|
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'- AGGCTGCATGTAGACTCCAC -3'
(R):5'- ACCCATGACGTCTTCATCG -3'
Sequencing Primer
(F):5'- TGCATGTAGACTCCACCAGTG -3'
(R):5'- TCGTAAGACAGCGTCAGC -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation