Incidental Mutation 'R9596:Ube3b'
| ID |
723267 |
| 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 # |
R9596 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
114518668-114559230 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 114527171 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 130
(W130R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000073652
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074002]
[ENSMUST00000130169]
[ENSMUST00000151809]
|
| AlphaFold |
Q9ES34 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000074002
AA Change: W130R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000073652
Gene: ENSMUSG00000029577
AA Change: W130R
| 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 damaging
Transcript: ENSMUST00000130169
AA Change: W130R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138723
Gene: ENSMUSG00000029577
AA Change: W130R
| Domain | Start | End | E-Value | Type |
|---|
|
IQ
|
28 |
50 |
1.17e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151809
|
| SMART Domains |
Protein: ENSMUSP00000142943
Gene: ENSMUSG00000029577
| Domain | Start | End | E-Value | Type |
|---|
|
IQ
|
28 |
50 |
5.6e-5 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aamp |
G |
T |
1: 74,320,262 (GRCm39) |
Q355K |
probably benign |
Het |
| Acte1 |
G |
T |
7: 143,434,902 (GRCm39) |
|
probably null |
Het |
| AI661453 |
T |
C |
17: 47,780,411 (GRCm39) |
S188P |
unknown |
Het |
| Atp10a |
A |
G |
7: 58,477,553 (GRCm39) |
S1251G |
probably damaging |
Het |
| Ccr10 |
A |
G |
11: 101,065,018 (GRCm39) |
F171L |
probably benign |
Het |
| Clec10a |
A |
T |
11: 70,059,973 (GRCm39) |
D65V |
probably damaging |
Het |
| Clybl |
A |
T |
14: 122,548,768 (GRCm39) |
I57L |
probably benign |
Het |
| Col5a1 |
G |
T |
2: 27,819,551 (GRCm39) |
E218* |
probably null |
Het |
| Diaph1 |
G |
A |
18: 38,024,111 (GRCm39) |
P576S |
unknown |
Het |
| Dsg1c |
T |
A |
18: 20,416,361 (GRCm39) |
I754N |
probably benign |
Het |
| Fam47e |
G |
C |
5: 92,726,395 (GRCm39) |
R111P |
probably benign |
Het |
| Fastkd3 |
G |
A |
13: 68,735,806 (GRCm39) |
V519M |
probably damaging |
Het |
| Fhod3 |
T |
A |
18: 25,193,392 (GRCm39) |
Y634* |
probably null |
Het |
| Frem3 |
G |
A |
8: 81,341,951 (GRCm39) |
V1415I |
probably benign |
Het |
| Herc2 |
G |
A |
7: 55,834,595 (GRCm39) |
S3191N |
|
Het |
| Kif19a |
A |
T |
11: 114,676,752 (GRCm39) |
E527V |
probably benign |
Het |
| Lmbr1 |
C |
A |
5: 29,440,105 (GRCm39) |
G420* |
probably null |
Het |
| Map3k9 |
A |
G |
12: 81,777,404 (GRCm39) |
S526P |
probably damaging |
Het |
| Mink1 |
T |
A |
11: 70,497,915 (GRCm39) |
L506Q |
possibly damaging |
Het |
| Mroh9 |
T |
C |
1: 162,893,576 (GRCm39) |
I200V |
probably damaging |
Het |
| Mrps14 |
T |
C |
1: 160,027,122 (GRCm39) |
V110A |
possibly damaging |
Het |
| Mta1 |
A |
G |
12: 113,090,470 (GRCm39) |
Q209R |
probably damaging |
Het |
| Mtss2 |
G |
A |
8: 111,458,689 (GRCm39) |
S195N |
|
Het |
| Nlgn1 |
T |
A |
3: 25,488,587 (GRCm39) |
I583F |
probably damaging |
Het |
| Ntng1 |
T |
C |
3: 110,042,956 (GRCm39) |
|
probably benign |
Het |
| Or10w1 |
A |
G |
19: 13,632,002 (GRCm39) |
S70G |
probably damaging |
Het |
| Or1p1c |
C |
T |
11: 74,160,289 (GRCm39) |
H25Y |
probably benign |
Het |
| Or2ag13 |
A |
T |
7: 106,313,412 (GRCm39) |
Y159N |
probably benign |
Het |
| Or5ac25 |
A |
G |
16: 59,181,942 (GRCm39) |
I213T |
possibly damaging |
Het |
| Or6c65 |
A |
G |
10: 129,603,988 (GRCm39) |
T208A |
probably damaging |
Het |
| Pcdha12 |
A |
T |
18: 37,154,302 (GRCm39) |
L340F |
probably benign |
Het |
| Pdk4 |
T |
A |
6: 5,491,842 (GRCm39) |
M173L |
probably benign |
Het |
| Pds5a |
A |
G |
5: 65,772,830 (GRCm39) |
S1258P |
probably benign |
Het |
| Plcd1 |
A |
T |
9: 118,917,183 (GRCm39) |
L22Q |
probably benign |
Het |
| Prag1 |
A |
G |
8: 36,570,113 (GRCm39) |
D232G |
probably damaging |
Het |
| Rest |
C |
T |
5: 77,423,141 (GRCm39) |
T315M |
probably damaging |
Het |
| Scrn2 |
G |
A |
11: 96,923,907 (GRCm39) |
V264M |
probably damaging |
Het |
| Sipa1l3 |
C |
A |
7: 29,031,691 (GRCm39) |
V1513F |
probably benign |
Het |
| Skic3 |
T |
C |
13: 76,330,968 (GRCm39) |
V1466A |
possibly damaging |
Het |
| Slc44a1 |
T |
A |
4: 53,544,553 (GRCm39) |
N421K |
probably benign |
Het |
| Smc6 |
G |
T |
12: 11,345,045 (GRCm39) |
R662I |
probably damaging |
Het |
| Spata31e5 |
C |
A |
1: 28,815,688 (GRCm39) |
M781I |
probably benign |
Het |
| Srcap |
T |
A |
7: 127,131,036 (GRCm39) |
W751R |
probably damaging |
Het |
| Sv2b |
A |
G |
7: 74,767,462 (GRCm39) |
F645L |
probably damaging |
Het |
| Sycp2 |
A |
G |
2: 177,990,212 (GRCm39) |
|
probably null |
Het |
| Syne4 |
A |
G |
7: 30,014,504 (GRCm39) |
T41A |
probably benign |
Het |
| Tns3 |
G |
A |
11: 8,401,142 (GRCm39) |
T1052M |
possibly damaging |
Het |
| Trap1 |
A |
T |
16: 3,871,374 (GRCm39) |
I381N |
probably damaging |
Het |
| Tshz1 |
A |
G |
18: 84,031,904 (GRCm39) |
S835P |
possibly damaging |
Het |
| Ubr5 |
G |
A |
15: 37,986,213 (GRCm39) |
T2207I |
|
Het |
| Vmn1r43 |
G |
A |
6: 89,846,877 (GRCm39) |
T203M |
probably damaging |
Het |
| Vmn2r11 |
T |
G |
5: 109,201,563 (GRCm39) |
I314L |
possibly damaging |
Het |
| Vmn2r15 |
T |
A |
5: 109,440,791 (GRCm39) |
I356L |
probably benign |
Het |
| Vmn2r31 |
G |
T |
7: 7,397,292 (GRCm39) |
T322N |
probably benign |
Het |
| Vmn2r8 |
A |
T |
5: 108,947,196 (GRCm39) |
F519I |
possibly damaging |
Het |
| Wdr35 |
T |
C |
12: 9,036,092 (GRCm39) |
F288L |
probably benign |
Het |
| Xab2 |
A |
T |
8: 3,663,018 (GRCm39) |
V521D |
probably damaging |
Het |
| Zfp639 |
T |
C |
3: 32,574,269 (GRCm39) |
F298S |
probably damaging |
Het |
| Zfp786 |
G |
A |
6: 47,797,406 (GRCm39) |
R511* |
probably null |
Het |
| Zfp936 |
T |
A |
7: 42,839,834 (GRCm39) |
C434S |
probably damaging |
Het |
| Zranb1 |
T |
C |
7: 132,552,146 (GRCm39) |
F266L |
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 |
|
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 |
|
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'- TGGGAGCCCTAGGTTTACTG -3'
(R):5'- AATGTGTCCTCCTAAGACAGACC -3'
Sequencing Primer
(F):5'- AGCCCTAGGTTTACTGTTTCG -3'
(R):5'- GGACCTGCAGCATCTACC -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation