Incidental Mutation 'R8784:Ube3b'
ID |
670469 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ube3b
|
Ensembl Gene |
ENSMUSG00000029577 |
Gene Name |
ubiquitin protein ligase E3B |
Synonyms |
|
MMRRC Submission |
068606-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8784 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
114518668-114559230 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 114526800 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Phenylalanine
at position 100
(C100F)
|
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: C100F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000073652 Gene: ENSMUSG00000029577 AA Change: C100F
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: C100F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000138723 Gene: ENSMUSG00000029577 AA Change: C100F
Domain | Start | End | E-Value | Type |
IQ
|
28 |
50 |
1.17e-2 |
SMART |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000151809
AA Change: V60F
|
SMART Domains |
Protein: ENSMUSP00000142943 Gene: ENSMUSG00000029577 AA Change: V60F
Domain | Start | End | E-Value | Type |
IQ
|
28 |
50 |
5.6e-5 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
100% (87/87) |
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 |
Abcc6 |
A |
T |
7: 45,652,025 (GRCm39) |
M614K |
probably benign |
Het |
Adamts7 |
G |
T |
9: 90,075,918 (GRCm39) |
V1217L |
probably null |
Het |
Adcyap1r1 |
T |
A |
6: 55,458,100 (GRCm39) |
N300K |
probably damaging |
Het |
Atf7ip |
A |
G |
6: 136,576,648 (GRCm39) |
D1017G |
probably damaging |
Het |
Atg2b |
A |
C |
12: 105,605,500 (GRCm39) |
D1488E |
probably damaging |
Het |
Atxn2 |
A |
G |
5: 121,933,091 (GRCm39) |
T805A |
probably benign |
Het |
Azi2 |
A |
T |
9: 117,884,960 (GRCm39) |
H223L |
probably benign |
Het |
Banp |
T |
A |
8: 122,727,852 (GRCm39) |
S349T |
probably damaging |
Het |
Bicra |
A |
T |
7: 15,705,875 (GRCm39) |
I1522N |
probably damaging |
Het |
Brca2 |
A |
T |
5: 150,472,126 (GRCm39) |
R2342* |
probably null |
Het |
C6 |
T |
C |
15: 4,822,622 (GRCm39) |
C623R |
probably damaging |
Het |
Cc2d2a |
T |
C |
5: 43,860,645 (GRCm39) |
Y574H |
possibly damaging |
Het |
Cdk5rap3 |
C |
T |
11: 96,803,212 (GRCm39) |
C115Y |
probably benign |
Het |
Chrm4 |
T |
A |
2: 91,758,033 (GRCm39) |
M147K |
probably benign |
Het |
Cit |
A |
T |
5: 115,984,442 (GRCm39) |
K5* |
probably null |
Het |
Ciz1 |
T |
A |
2: 32,260,262 (GRCm39) |
S231T |
probably benign |
Het |
Crebrf |
A |
G |
17: 26,961,520 (GRCm39) |
I206V |
probably benign |
Het |
Cyc1 |
T |
C |
15: 76,227,863 (GRCm39) |
S34P |
probably benign |
Het |
Dnah5 |
A |
G |
15: 28,388,097 (GRCm39) |
I3185M |
probably benign |
Het |
Dtnbp1 |
T |
C |
13: 45,075,702 (GRCm39) |
D347G |
unknown |
Het |
Dzip3 |
A |
T |
16: 48,751,628 (GRCm39) |
V767E |
probably damaging |
Het |
Gdf3 |
A |
T |
6: 122,583,279 (GRCm39) |
C363S |
probably damaging |
Het |
Glb1l |
T |
C |
1: 75,176,975 (GRCm39) |
K487R |
probably damaging |
Het |
Gm9747 |
T |
C |
1: 82,212,002 (GRCm39) |
V67A |
unknown |
Het |
Hoxb2 |
A |
G |
11: 96,242,736 (GRCm39) |
T34A |
possibly damaging |
Het |
Ifnk |
C |
T |
4: 35,152,383 (GRCm39) |
R104C |
probably damaging |
Het |
Igfbp1 |
A |
T |
11: 7,151,952 (GRCm39) |
I252F |
probably damaging |
Het |
Ighv1-74 |
T |
C |
12: 115,766,480 (GRCm39) |
T47A |
probably benign |
Het |
Igkv4-62 |
A |
T |
6: 69,376,946 (GRCm39) |
W68R |
probably damaging |
Het |
Il23r |
A |
G |
6: 67,443,401 (GRCm39) |
I234T |
probably damaging |
Het |
Ints2 |
T |
A |
11: 86,112,963 (GRCm39) |
I852F |
probably damaging |
Het |
Ints2 |
G |
A |
11: 86,115,941 (GRCm39) |
Q763* |
probably null |
Het |
Jhy |
T |
G |
9: 40,872,182 (GRCm39) |
H109P |
probably benign |
Het |
Katna1 |
T |
A |
10: 7,614,579 (GRCm39) |
V29D |
possibly damaging |
Het |
Kcng4 |
T |
A |
8: 120,352,970 (GRCm39) |
E313D |
probably benign |
Het |
Klf14 |
T |
A |
6: 30,935,049 (GRCm39) |
H195L |
probably damaging |
Het |
Lama3 |
A |
G |
18: 12,554,212 (GRCm39) |
N472S |
probably benign |
Het |
Layn |
A |
T |
9: 50,970,781 (GRCm39) |
V254E |
possibly damaging |
Het |
Lrba |
A |
T |
3: 86,283,235 (GRCm39) |
S1850C |
probably damaging |
Het |
Map1s |
A |
G |
8: 71,358,909 (GRCm39) |
I2V |
unknown |
Het |
Map3k12 |
T |
A |
15: 102,413,797 (GRCm39) |
Q58L |
possibly damaging |
Het |
Minpp1 |
T |
C |
19: 32,491,396 (GRCm39) |
V358A |
probably benign |
Het |
Mymk |
C |
G |
2: 26,961,947 (GRCm39) |
K27N |
possibly damaging |
Het |
Nek8 |
T |
C |
11: 78,063,375 (GRCm39) |
K130E |
probably damaging |
Het |
Ngef |
T |
A |
1: 87,405,293 (GRCm39) |
S706C |
probably damaging |
Het |
Nsun6 |
G |
A |
2: 15,001,306 (GRCm39) |
Q417* |
probably null |
Het |
Ntsr2 |
G |
T |
12: 16,706,852 (GRCm39) |
Q293H |
probably damaging |
Het |
Ocln |
T |
A |
13: 100,676,050 (GRCm39) |
I148F |
probably damaging |
Het |
Or12d12 |
A |
G |
17: 37,610,701 (GRCm39) |
I204T |
probably benign |
Het |
Or4p19 |
A |
T |
2: 88,242,091 (GRCm39) |
Y304N |
probably benign |
Het |
Or8g30 |
T |
A |
9: 39,229,989 (GRCm39) |
Q307L |
probably benign |
Het |
Pank3 |
T |
G |
11: 35,672,412 (GRCm39) |
F272V |
probably damaging |
Het |
Piezo1 |
A |
T |
8: 123,223,328 (GRCm39) |
|
probably benign |
Het |
Plppr4 |
G |
A |
3: 117,116,190 (GRCm39) |
R556* |
probably null |
Het |
Polr1a |
G |
T |
6: 71,927,612 (GRCm39) |
R821L |
probably benign |
Het |
Ppp1r36 |
C |
T |
12: 76,485,967 (GRCm39) |
T375I |
probably benign |
Het |
Ptprj |
T |
A |
2: 90,290,856 (GRCm39) |
I628F |
possibly damaging |
Het |
Puf60 |
C |
A |
15: 75,949,525 (GRCm39) |
V29F |
unknown |
Het |
R3hdm2 |
T |
G |
10: 127,293,521 (GRCm39) |
S142A |
probably damaging |
Het |
Rassf1 |
A |
G |
9: 107,435,041 (GRCm39) |
S179G |
probably benign |
Het |
Rbm6 |
A |
G |
9: 107,665,337 (GRCm39) |
S772P |
possibly damaging |
Het |
Rnf103 |
T |
G |
6: 71,486,982 (GRCm39) |
S538A |
probably benign |
Het |
Scoc |
C |
A |
8: 84,164,245 (GRCm39) |
V58L |
probably benign |
Het |
Secisbp2l |
G |
A |
2: 125,602,263 (GRCm39) |
Q366* |
probably null |
Het |
Slc16a14 |
T |
C |
1: 84,890,784 (GRCm39) |
T174A |
probably benign |
Het |
Slc25a22 |
A |
C |
7: 141,011,020 (GRCm39) |
*324G |
probably null |
Het |
Smarca2 |
C |
T |
19: 26,753,558 (GRCm39) |
T197I |
probably benign |
Het |
Speg |
T |
C |
1: 75,381,793 (GRCm39) |
|
probably benign |
Het |
Srgap2 |
T |
A |
1: 131,223,212 (GRCm39) |
N858I |
unknown |
Het |
Syna |
C |
T |
5: 134,588,723 (GRCm39) |
M75I |
probably benign |
Het |
Tbc1d22b |
T |
C |
17: 29,818,918 (GRCm39) |
I424T |
probably damaging |
Het |
Tcaf1 |
T |
G |
6: 42,656,221 (GRCm39) |
T252P |
probably benign |
Het |
Thbs1 |
A |
G |
2: 117,943,613 (GRCm39) |
D77G |
probably damaging |
Het |
Tlcd3a |
T |
C |
11: 76,098,941 (GRCm39) |
F237S |
probably damaging |
Het |
Trim21 |
T |
C |
7: 102,208,675 (GRCm39) |
E348G |
probably benign |
Het |
Trpm3 |
A |
G |
19: 22,896,040 (GRCm39) |
D959G |
probably benign |
Het |
Ttc24 |
A |
T |
3: 87,980,033 (GRCm39) |
C182* |
probably null |
Het |
Tti1 |
T |
C |
2: 157,850,514 (GRCm39) |
T242A |
probably benign |
Het |
Ube2q2l |
G |
A |
6: 136,378,729 (GRCm39) |
Q34* |
probably null |
Het |
Vmn1r26 |
T |
A |
6: 57,985,440 (GRCm39) |
T250S |
possibly damaging |
Het |
Vnn1 |
A |
G |
10: 23,780,526 (GRCm39) |
T505A |
probably benign |
Het |
Vps13a |
C |
A |
19: 16,642,153 (GRCm39) |
W2158L |
probably damaging |
Het |
Vwa1 |
A |
T |
4: 155,857,345 (GRCm39) |
V151E |
probably damaging |
Het |
Zfp14 |
A |
G |
7: 29,742,961 (GRCm39) |
S46P |
probably damaging |
Het |
Zfp773 |
C |
A |
7: 7,135,570 (GRCm39) |
C342F |
probably benign |
Het |
Zscan12 |
T |
A |
13: 21,547,991 (GRCm39) |
S58T |
possibly 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 |
|
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'- GTCGTGTCCATGTCTCTAAGC -3'
(R):5'- AGCAAAGCACAGCTCTGTAGAG -3'
Sequencing Primer
(F):5'- GTCCATGTCTCTAAGCAGGAG -3'
(R):5'- CACAGCTCTGTAGAGGAAGAC -3'
|
Posted On |
2021-04-30 |