Incidental Mutation 'R5910:Ube3b'
| ID |
460913 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ube3b
|
| Ensembl Gene |
ENSMUSG00000029577 |
| Gene Name |
ubiquitin protein ligase E3B |
| Synonyms |
|
| MMRRC Submission |
044107-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5910 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
114518668-114559230 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 114553370 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 914
(I914N)
|
| 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: I914N
PolyPhen 2
Score 0.631 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000073652
Gene: ENSMUSG00000029577
AA Change: I914N
| 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 |
noncoding transcript
Transcript: ENSMUST00000150630
|
| 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 |
0.8261 |
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.4%
- 10x: 97.0%
- 20x: 90.5%
|
| Validation Efficiency |
95% (93/98) |
| 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 |
|---|
| A2m |
A |
G |
6: 121,645,076 (GRCm39) |
N976D |
probably damaging |
Het |
| Adamts1 |
G |
A |
16: 85,599,037 (GRCm39) |
R188W |
probably benign |
Het |
| Adcy4 |
A |
T |
14: 56,016,470 (GRCm39) |
V327D |
probably damaging |
Het |
| Alg8 |
T |
C |
7: 97,039,493 (GRCm39) |
I408T |
possibly damaging |
Het |
| Ankib1 |
T |
C |
5: 3,743,217 (GRCm39) |
S933G |
probably benign |
Het |
| Ap2a2 |
A |
G |
7: 141,178,691 (GRCm39) |
D106G |
probably damaging |
Het |
| Arhgap22 |
A |
T |
14: 33,088,572 (GRCm39) |
H351L |
probably damaging |
Het |
| Arhgef2 |
A |
G |
3: 88,542,327 (GRCm39) |
Y310C |
probably damaging |
Het |
| Atm |
A |
T |
9: 53,359,380 (GRCm39) |
S2804R |
probably damaging |
Het |
| Baz2b |
A |
G |
2: 59,807,770 (GRCm39) |
L163P |
possibly damaging |
Het |
| Bcl2l12 |
C |
T |
7: 44,645,967 (GRCm39) |
|
probably null |
Het |
| Cdh23 |
A |
G |
10: 60,213,600 (GRCm39) |
V1495A |
possibly damaging |
Het |
| Cep78 |
A |
G |
19: 15,946,492 (GRCm39) |
S447P |
possibly damaging |
Het |
| Cfap43 |
G |
A |
19: 47,768,710 (GRCm39) |
T778I |
possibly damaging |
Het |
| Cfap54 |
A |
T |
10: 92,901,043 (GRCm39) |
N170K |
probably damaging |
Het |
| Cmya5 |
A |
T |
13: 93,229,151 (GRCm39) |
L1979Q |
probably damaging |
Het |
| Col15a1 |
A |
T |
4: 47,289,514 (GRCm39) |
E846D |
probably damaging |
Het |
| Col5a1 |
A |
G |
2: 27,926,900 (GRCm39) |
K308E |
possibly damaging |
Het |
| Dcst1 |
T |
A |
3: 89,257,731 (GRCm39) |
T680S |
possibly damaging |
Het |
| Dsp |
T |
C |
13: 38,376,445 (GRCm39) |
L1410P |
possibly damaging |
Het |
| Edem3 |
T |
A |
1: 151,646,578 (GRCm39) |
|
probably null |
Het |
| Efcab3 |
A |
T |
11: 104,581,760 (GRCm39) |
E34V |
probably benign |
Het |
| Eif4e2 |
T |
A |
1: 87,148,696 (GRCm39) |
Y64N |
probably damaging |
Het |
| Fcgbp |
C |
T |
7: 27,784,928 (GRCm39) |
|
probably benign |
Het |
| Gm7275 |
A |
T |
16: 47,893,826 (GRCm39) |
|
noncoding transcript |
Het |
| Grin3b |
G |
T |
10: 79,808,855 (GRCm39) |
V202L |
probably benign |
Het |
| Gsdmc4 |
G |
A |
15: 63,767,101 (GRCm39) |
S223F |
possibly damaging |
Het |
| H2bc14 |
A |
G |
13: 21,906,470 (GRCm39) |
N68S |
probably benign |
Het |
| Hbp1 |
T |
C |
12: 31,987,651 (GRCm39) |
H183R |
probably benign |
Het |
| Hectd3 |
A |
G |
4: 116,859,331 (GRCm39) |
M652V |
probably benign |
Het |
| Hmgxb4 |
T |
C |
8: 75,726,193 (GRCm39) |
F13L |
probably benign |
Het |
| Hnrnpab |
T |
C |
11: 51,492,281 (GRCm39) |
K271R |
probably benign |
Het |
| Ilvbl |
A |
T |
10: 78,412,947 (GRCm39) |
K156N |
probably benign |
Het |
| Iqce |
A |
T |
5: 140,687,973 (GRCm39) |
|
probably benign |
Het |
| Itpr2 |
C |
A |
6: 146,231,069 (GRCm39) |
V1194L |
probably benign |
Het |
| Kif18b |
A |
G |
11: 102,804,370 (GRCm39) |
F384L |
probably benign |
Het |
| Klf14 |
A |
G |
6: 30,934,774 (GRCm39) |
Y287H |
probably benign |
Het |
| Klhl6 |
A |
G |
16: 19,775,844 (GRCm39) |
M238T |
probably benign |
Het |
| Lbp |
G |
A |
2: 158,166,477 (GRCm39) |
V344I |
probably benign |
Het |
| Lrp12 |
T |
C |
15: 39,739,439 (GRCm39) |
|
probably null |
Het |
| Mapk7 |
T |
A |
11: 61,384,447 (GRCm39) |
M1L |
probably benign |
Het |
| Muc5b |
A |
G |
7: 141,415,048 (GRCm39) |
T2665A |
possibly damaging |
Het |
| Ncln |
A |
T |
10: 81,331,912 (GRCm39) |
|
probably null |
Het |
| Nfxl1 |
T |
C |
5: 72,697,708 (GRCm39) |
R347G |
probably benign |
Het |
| Npnt |
C |
A |
3: 132,612,179 (GRCm39) |
C231F |
probably damaging |
Het |
| Nrap |
T |
A |
19: 56,330,743 (GRCm39) |
H1070L |
probably benign |
Het |
| Nrxn1 |
G |
T |
17: 91,011,746 (GRCm39) |
Y294* |
probably null |
Het |
| Or4c126 |
A |
G |
2: 89,823,782 (GRCm39) |
D15G |
probably benign |
Het |
| Or9s27 |
T |
C |
1: 92,516,429 (GRCm39) |
Y126H |
probably damaging |
Het |
| Otog |
A |
G |
7: 45,948,022 (GRCm39) |
H2341R |
possibly damaging |
Het |
| Paqr3 |
T |
C |
5: 97,243,887 (GRCm39) |
|
probably null |
Het |
| Pcdhb11 |
T |
C |
18: 37,556,796 (GRCm39) |
F709L |
probably benign |
Het |
| Phf12 |
G |
A |
11: 77,918,224 (GRCm39) |
R812Q |
probably damaging |
Het |
| Polr2a |
A |
T |
11: 69,637,696 (GRCm39) |
L216Q |
probably damaging |
Het |
| Polrmt |
A |
G |
10: 79,579,331 (GRCm39) |
L140P |
probably benign |
Het |
| Pou2f3 |
C |
T |
9: 43,045,769 (GRCm39) |
|
probably null |
Het |
| Prkcd |
A |
T |
14: 30,317,938 (GRCm39) |
N548K |
probably benign |
Het |
| Pygb |
A |
G |
2: 150,657,620 (GRCm39) |
D361G |
probably benign |
Het |
| Rpl9 |
A |
T |
5: 65,546,044 (GRCm39) |
|
probably benign |
Het |
| Rubcnl |
A |
T |
14: 75,272,912 (GRCm39) |
T211S |
probably benign |
Het |
| Rusc1 |
C |
T |
3: 88,999,027 (GRCm39) |
G252S |
probably benign |
Het |
| Scnn1g |
A |
G |
7: 121,337,318 (GRCm39) |
T60A |
probably damaging |
Het |
| Sipa1l2 |
T |
G |
8: 126,218,423 (GRCm39) |
T305P |
probably benign |
Het |
| Slc18b1 |
T |
A |
10: 23,700,565 (GRCm39) |
|
probably benign |
Het |
| Sp100 |
G |
A |
1: 85,608,861 (GRCm39) |
|
probably null |
Het |
| Tekt5 |
A |
T |
16: 10,205,017 (GRCm39) |
|
probably null |
Het |
| Tlnrd1 |
T |
A |
7: 83,533,693 (GRCm39) |
|
probably benign |
Het |
| Tpcn1 |
A |
G |
5: 120,685,462 (GRCm39) |
|
probably benign |
Het |
| Tpcn2 |
T |
C |
7: 144,814,719 (GRCm39) |
I461V |
probably benign |
Het |
| Traf3ip1 |
A |
G |
1: 91,455,467 (GRCm39) |
K643E |
probably damaging |
Het |
| Trim33 |
T |
C |
3: 103,251,892 (GRCm39) |
C914R |
probably damaging |
Het |
| Trip11 |
G |
A |
12: 101,849,738 (GRCm39) |
T1442I |
probably damaging |
Het |
| Ttll6 |
A |
G |
11: 96,026,415 (GRCm39) |
M107V |
possibly damaging |
Het |
| Uap1l1 |
A |
G |
2: 25,253,445 (GRCm39) |
|
probably benign |
Het |
| Usp24 |
A |
G |
4: 106,237,665 (GRCm39) |
T1107A |
probably damaging |
Het |
| Usp40 |
A |
T |
1: 87,896,122 (GRCm39) |
C811* |
probably null |
Het |
| Vps11 |
T |
C |
9: 44,270,432 (GRCm39) |
|
probably null |
Het |
| Wdr91 |
A |
T |
6: 34,868,422 (GRCm39) |
I433N |
possibly damaging |
Het |
| Zfp770 |
G |
C |
2: 114,026,713 (GRCm39) |
S452* |
probably null |
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 |
|
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 |
|
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'- GGCTCATCTCTTAGCATGCTTG -3'
(R):5'- TGGGCTGTCATCAGGATACCAG -3'
Sequencing Primer
(F):5'- TCTTAGCATGCTTGGCAGC -3'
(R):5'- GGATACCAGAGTCACTCTATGTCAG -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation