Incidental Mutation 'R7438:Ube3b'
ID |
576725 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ube3b
|
Ensembl Gene |
ENSMUSG00000029577 |
Gene Name |
ubiquitin protein ligase E3B |
Synonyms |
|
MMRRC Submission |
045514-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7438 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
114380607-114421169 bp(+) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 114418626 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Alanine
at position 1006
(D1006A)
|
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: D1006A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000073652 Gene: ENSMUSG00000029577 AA Change: D1006A
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: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
100% (88/88) |
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: 86 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc4 |
T |
C |
14: 118,616,446 (GRCm38) |
S425G |
probably benign |
Het |
Adam29 |
A |
G |
8: 55,871,574 (GRCm38) |
I615T |
probably damaging |
Het |
Arap2 |
A |
T |
5: 62,749,475 (GRCm38) |
I67N |
probably damaging |
Het |
Asxl2 |
C |
T |
12: 3,427,108 (GRCm38) |
|
probably benign |
Het |
Atp13a4 |
C |
T |
16: 29,441,196 (GRCm38) |
G607D |
|
Het |
Atp2c2 |
G |
A |
8: 119,748,197 (GRCm38) |
V514M |
probably damaging |
Het |
Baiap3 |
A |
G |
17: 25,249,108 (GRCm38) |
C311R |
possibly damaging |
Het |
Becn1 |
A |
C |
11: 101,294,226 (GRCm38) |
S137R |
probably benign |
Het |
C1qtnf6 |
G |
T |
15: 78,525,374 (GRCm38) |
T91K |
probably benign |
Het |
C8a |
T |
C |
4: 104,861,429 (GRCm38) |
K110E |
probably damaging |
Het |
Camta2 |
A |
G |
11: 70,683,888 (GRCm38) |
|
probably null |
Het |
Capn8 |
T |
A |
1: 182,598,675 (GRCm38) |
Y192N |
probably damaging |
Het |
Ccdc170 |
C |
T |
10: 4,558,512 (GRCm38) |
Q579* |
probably null |
Het |
Cenpa |
G |
T |
5: 30,666,948 (GRCm38) |
|
probably benign |
Het |
Cltc |
A |
G |
11: 86,725,228 (GRCm38) |
V404A |
probably benign |
Het |
Cyp3a11 |
A |
T |
5: 145,865,900 (GRCm38) |
L261Q |
probably benign |
Het |
Daw1 |
T |
A |
1: 83,192,715 (GRCm38) |
S249R |
probably benign |
Het |
Dchs1 |
T |
A |
7: 105,754,948 (GRCm38) |
I2796F |
probably benign |
Het |
Dis3l2 |
T |
C |
1: 86,745,500 (GRCm38) |
|
probably null |
Het |
Dnah5 |
A |
T |
15: 28,346,952 (GRCm38) |
D2527V |
probably damaging |
Het |
Dsg4 |
G |
A |
18: 20,466,628 (GRCm38) |
R767Q |
probably damaging |
Het |
Edaradd |
A |
G |
13: 12,478,457 (GRCm38) |
I118T |
probably damaging |
Het |
Fam60a |
A |
G |
6: 148,933,102 (GRCm38) |
Y10H |
probably benign |
Het |
Fam83h |
A |
G |
15: 76,004,426 (GRCm38) |
F354S |
possibly damaging |
Het |
Fat3 |
A |
G |
9: 15,988,482 (GRCm38) |
V3085A |
probably benign |
Het |
Fer |
A |
G |
17: 64,133,521 (GRCm38) |
D711G |
possibly damaging |
Het |
G6pc |
G |
T |
11: 101,376,677 (GRCm38) |
V318F |
probably benign |
Het |
Gal3st1 |
C |
A |
11: 3,998,227 (GRCm38) |
H145N |
probably benign |
Het |
Gm13088 |
T |
C |
4: 143,655,560 (GRCm38) |
I189V |
probably damaging |
Het |
Helz |
C |
T |
11: 107,662,030 (GRCm38) |
P1211S |
probably damaging |
Het |
Herc1 |
A |
G |
9: 66,394,756 (GRCm38) |
I667V |
probably benign |
Het |
Herc2 |
T |
A |
7: 56,103,718 (GRCm38) |
|
probably null |
Het |
Hivep1 |
C |
T |
13: 42,154,911 (GRCm38) |
T209I |
probably damaging |
Het |
Hsph1 |
A |
G |
5: 149,619,020 (GRCm38) |
Y678H |
probably damaging |
Het |
Ift122 |
C |
T |
6: 115,926,302 (GRCm38) |
R1176C |
probably benign |
Het |
Ighv1-23 |
T |
C |
12: 114,764,475 (GRCm38) |
D109G |
probably damaging |
Het |
Itgb3 |
T |
C |
11: 104,643,577 (GRCm38) |
V420A |
possibly damaging |
Het |
Kcnk13 |
C |
A |
12: 100,061,726 (GRCm38) |
N353K |
probably damaging |
Het |
Kif21a |
A |
G |
15: 90,993,796 (GRCm38) |
F270L |
probably benign |
Het |
Kit |
T |
A |
5: 75,639,000 (GRCm38) |
V464D |
probably benign |
Het |
Klhl36 |
G |
A |
8: 119,870,175 (GRCm38) |
W205* |
probably null |
Het |
Krt17 |
A |
G |
11: 100,258,465 (GRCm38) |
Y260H |
probably damaging |
Het |
Lats1 |
C |
T |
10: 7,712,942 (GRCm38) |
Q1108* |
probably null |
Het |
Lrch1 |
G |
A |
14: 74,757,037 (GRCm38) |
T709I |
possibly damaging |
Het |
Lrrc58 |
C |
A |
16: 37,868,691 (GRCm38) |
Q66K |
probably benign |
Het |
Mei1 |
G |
A |
15: 82,115,481 (GRCm38) |
A664T |
|
Het |
Mtmr6 |
C |
T |
14: 60,300,304 (GRCm38) |
T546M |
probably benign |
Het |
Ncoa3 |
T |
A |
2: 166,068,529 (GRCm38) |
F1288L |
probably damaging |
Het |
Nwd1 |
G |
T |
8: 72,707,830 (GRCm38) |
V1352L |
probably benign |
Het |
Olfr1283 |
T |
A |
2: 111,369,362 (GRCm38) |
H243Q |
probably damaging |
Het |
Olfr199 |
A |
T |
16: 59,216,398 (GRCm38) |
C72S |
probably benign |
Het |
Ovol3 |
C |
T |
7: 30,235,221 (GRCm38) |
|
probably null |
Het |
Palb2 |
C |
A |
7: 122,117,331 (GRCm38) |
V843L |
probably damaging |
Het |
Pds5a |
T |
A |
5: 65,652,535 (GRCm38) |
|
probably null |
Het |
Per1 |
A |
G |
11: 69,104,735 (GRCm38) |
S714G |
possibly damaging |
Het |
Plch2 |
G |
A |
4: 155,000,460 (GRCm38) |
R442C |
probably damaging |
Het |
Pon2 |
A |
T |
6: 5,289,080 (GRCm38) |
S26R |
probably benign |
Het |
Ppp1r9a |
A |
T |
6: 5,115,378 (GRCm38) |
N834Y |
probably damaging |
Het |
Rbm46 |
C |
T |
3: 82,842,488 (GRCm38) |
W483* |
probably null |
Het |
Rnd1 |
A |
T |
15: 98,673,901 (GRCm38) |
V88E |
probably damaging |
Het |
Sbno2 |
T |
A |
10: 80,069,575 (GRCm38) |
T142S |
unknown |
Het |
Scn9a |
C |
T |
2: 66,547,187 (GRCm38) |
V384M |
possibly damaging |
Het |
Sertad4 |
T |
A |
1: 192,846,710 (GRCm38) |
H266L |
possibly damaging |
Het |
Setd5 |
T |
A |
6: 113,115,082 (GRCm38) |
M288K |
possibly damaging |
Het |
Sfxn4 |
T |
A |
19: 60,857,361 (GRCm38) |
N66Y |
probably damaging |
Het |
Skint6 |
T |
A |
4: 113,238,228 (GRCm38) |
N78I |
probably damaging |
Het |
Sltm |
G |
T |
9: 70,573,466 (GRCm38) |
G200V |
unknown |
Het |
Smg1 |
A |
G |
7: 118,195,893 (GRCm38) |
I477T |
unknown |
Het |
Supv3l1 |
C |
T |
10: 62,430,470 (GRCm38) |
|
probably null |
Het |
Syne2 |
A |
G |
12: 76,015,563 (GRCm38) |
R4220G |
probably benign |
Het |
Tbr1 |
A |
T |
2: 61,804,817 (GRCm38) |
H37L |
possibly damaging |
Het |
Tet3 |
TGGCCCAGGCCCAGGC |
TGGCCCAGGCCCAGGCCCAGGC |
6: 83,368,229 (GRCm38) |
|
probably benign |
Het |
Tmem231 |
G |
T |
8: 111,918,408 (GRCm38) |
S155R |
probably damaging |
Het |
Trem3 |
A |
G |
17: 48,258,470 (GRCm38) |
*184W |
probably null |
Het |
Trim33 |
T |
A |
3: 103,346,640 (GRCm38) |
|
probably benign |
Het |
Tsen2 |
G |
A |
6: 115,559,982 (GRCm38) |
W233* |
probably null |
Het |
Ttc21a |
T |
A |
9: 119,945,539 (GRCm38) |
N286K |
probably damaging |
Het |
Tulp4 |
A |
T |
17: 6,198,708 (GRCm38) |
M194L |
probably benign |
Het |
Vipas39 |
A |
T |
12: 87,241,931 (GRCm38) |
|
probably null |
Het |
Wdr35 |
T |
A |
12: 9,022,785 (GRCm38) |
Y920N |
probably damaging |
Het |
Zan |
T |
G |
5: 137,425,562 (GRCm38) |
I2692L |
unknown |
Het |
Zfp142 |
C |
A |
1: 74,585,520 (GRCm38) |
E48D |
probably benign |
Het |
Zfp598 |
T |
C |
17: 24,677,530 (GRCm38) |
Y194H |
probably damaging |
Het |
Zfp85 |
T |
C |
13: 67,748,945 (GRCm38) |
N336S |
probably benign |
Het |
Zfyve27 |
A |
T |
19: 42,189,520 (GRCm38) |
|
probably null |
Het |
Zp3 |
T |
C |
5: 135,982,705 (GRCm38) |
S126P |
probably 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 |
R5564:Ube3b
|
UTSW |
5 |
114,389,075 (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 |
114,415,284 (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'- ACATGTGATGTGTCCTGGGC -3'
(R):5'- CAGCAGCCATGAAAGACTGTCC -3'
Sequencing Primer
(F):5'- CATGTGTGTGGGACAAGCACC -3'
(R):5'- GCCATGAAAGACTGTCCTAATTAC -3'
|
Posted On |
2019-10-07 |