Incidental Mutation 'R8044:Ube3a'
| ID |
618668 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ube3a
|
| Ensembl Gene |
ENSMUSG00000025326 |
| Gene Name |
ubiquitin protein ligase E3A |
| Synonyms |
A130086L21Rik, E6-AP ubiquitin protein ligase, 5830462N02Rik, Hpve6a |
| MMRRC Submission |
067481-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.632)
|
| Stock # |
R8044 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
58878498-58961284 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 58926320 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 387
(H387L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143859
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107537]
[ENSMUST00000200709]
[ENSMUST00000200758]
[ENSMUST00000201409]
[ENSMUST00000202440]
[ENSMUST00000202945]
[ENSMUST00000207686]
[ENSMUST00000208313]
|
| AlphaFold |
O08759 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107537
AA Change: H366L
PolyPhen 2
Score 0.510 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000103161
Gene: ENSMUSG00000025326
AA Change: H366L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AZUL
|
27 |
81 |
1.7e-21 |
PFAM |
|
Blast:HECTc
|
108 |
169 |
2e-20 |
BLAST |
|
low complexity region
|
170 |
207 |
N/A |
INTRINSIC |
|
Blast:HECTc
|
359 |
480 |
1e-12 |
BLAST |
|
HECTc
|
540 |
870 |
5.05e-180 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200709
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000200758
AA Change: H387L
PolyPhen 2
Score 0.510 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000143859
Gene: ENSMUSG00000025326
AA Change: H387L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AZUL
|
27 |
81 |
1.7e-21 |
PFAM |
|
Blast:HECTc
|
108 |
169 |
2e-20 |
BLAST |
|
low complexity region
|
170 |
207 |
N/A |
INTRINSIC |
|
Blast:HECTc
|
359 |
480 |
1e-12 |
BLAST |
|
HECTc
|
540 |
870 |
5.05e-180 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201409
|
| SMART Domains |
Protein: ENSMUSP00000144220
Gene: ENSMUSG00000025326
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AZUL
|
27 |
81 |
3.4e-18 |
PFAM |
|
Blast:HECTc
|
108 |
169 |
5e-22 |
BLAST |
|
low complexity region
|
170 |
207 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202440
|
| SMART Domains |
Protein: ENSMUSP00000143896
Gene: ENSMUSG00000025326
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AZUL
|
6 |
50 |
1.4e-17 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000202945
AA Change: H366L
PolyPhen 2
Score 0.510 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000143962
Gene: ENSMUSG00000025326
AA Change: H366L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AZUL
|
6 |
60 |
4.4e-21 |
PFAM |
|
Blast:HECTc
|
87 |
148 |
2e-20 |
BLAST |
|
low complexity region
|
149 |
186 |
N/A |
INTRINSIC |
|
Blast:HECTc
|
338 |
459 |
1e-12 |
BLAST |
|
HECTc
|
519 |
762 |
7.07e-79 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207686
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208313
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (36/36) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an E3 ubiquitin-protein ligase, part of the ubiquitin protein degradation system. This imprinted gene is maternally expressed in brain and biallelically expressed in other tissues. Maternally inherited deletion of this gene causes Angelman Syndrome, characterized by severe motor and intellectual retardation, ataxia, hypotonia, epilepsy, absence of speech, and characteristic facies. The protein also interacts with the E6 protein of human papillomavirus types 16 and 18, resulting in ubiquitination and proteolysis of tumor protein p53. Alternative splicing of this gene results in three transcript variants encoding three isoforms with different N-termini. Additional transcript variants have been described, but their full length nature has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice with maternally inherited targeted null mutations exhibit reduced brain weight, impaired motor function, inducible seizures, learning deficits, abnormal hippocampal electroencephalographic recordings, and severely impaired long-term potentiation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921524J17Rik |
T |
C |
8: 86,138,747 (GRCm39) |
E114G |
possibly damaging |
Het |
| Abcc4 |
ACCAGCCC |
ACC |
14: 118,852,682 (GRCm39) |
|
probably null |
Het |
| Adgrv1 |
A |
T |
13: 81,588,344 (GRCm39) |
V4414E |
possibly damaging |
Het |
| Asb7 |
T |
C |
7: 66,309,511 (GRCm39) |
N235S |
probably benign |
Het |
| Atrn |
A |
T |
2: 130,777,449 (GRCm39) |
N166I |
probably damaging |
Het |
| Cd300ld2 |
C |
T |
11: 114,904,545 (GRCm39) |
W107* |
probably null |
Het |
| Chl1 |
A |
T |
6: 103,683,593 (GRCm39) |
E806D |
probably damaging |
Het |
| Dnajb12 |
A |
G |
10: 59,732,172 (GRCm39) |
K337R |
possibly damaging |
Het |
| Dock5 |
T |
C |
14: 68,062,141 (GRCm39) |
D409G |
probably damaging |
Het |
| Efhb |
G |
A |
17: 53,706,143 (GRCm39) |
S798L |
probably benign |
Het |
| Gpd1 |
T |
C |
15: 99,621,083 (GRCm39) |
F322S |
probably damaging |
Het |
| Gria4 |
A |
G |
9: 4,456,216 (GRCm39) |
Y695H |
probably damaging |
Het |
| Ipo8 |
A |
G |
6: 148,711,421 (GRCm39) |
F289S |
probably damaging |
Het |
| Jakmip1 |
A |
G |
5: 37,311,988 (GRCm39) |
E72G |
unknown |
Het |
| Mettl14 |
T |
C |
3: 123,163,309 (GRCm39) |
N366S |
probably benign |
Het |
| Ntrk2 |
A |
G |
13: 59,274,313 (GRCm39) |
T730A |
probably damaging |
Het |
| Or5b101 |
T |
C |
19: 13,004,829 (GRCm39) |
Y288C |
probably damaging |
Het |
| Otop3 |
T |
C |
11: 115,237,261 (GRCm39) |
L575P |
probably damaging |
Het |
| Piwil2 |
T |
C |
14: 70,628,887 (GRCm39) |
S710G |
possibly damaging |
Het |
| Pramel32 |
T |
G |
4: 88,548,212 (GRCm39) |
E64D |
possibly damaging |
Het |
| Ptpra |
A |
G |
2: 130,386,881 (GRCm39) |
K627E |
possibly damaging |
Het |
| Rab24 |
A |
G |
13: 55,469,345 (GRCm39) |
|
probably benign |
Het |
| Rbm20 |
C |
A |
19: 53,806,402 (GRCm39) |
A494D |
probably benign |
Het |
| Rpe65 |
T |
C |
3: 159,320,342 (GRCm39) |
F300L |
probably benign |
Het |
| St6gal1 |
G |
A |
16: 23,176,585 (GRCm39) |
A393T |
probably benign |
Het |
| Tert |
A |
G |
13: 73,783,568 (GRCm39) |
E590G |
probably damaging |
Het |
| Tlr4 |
C |
A |
4: 66,746,084 (GRCm39) |
L6I |
probably benign |
Het |
| Trim3 |
G |
A |
7: 105,262,465 (GRCm39) |
|
silent |
Het |
| Tubg1 |
G |
T |
11: 101,014,854 (GRCm39) |
A199S |
probably benign |
Het |
| Ugt1a7c |
G |
A |
1: 88,023,278 (GRCm39) |
V146M |
probably damaging |
Het |
| Upf2 |
T |
C |
2: 6,034,249 (GRCm39) |
I974T |
unknown |
Het |
| Vmn1r38 |
A |
T |
6: 66,753,516 (GRCm39) |
I200N |
probably benign |
Het |
| Wnt5b |
A |
G |
6: 119,423,319 (GRCm39) |
V115A |
probably damaging |
Het |
| Xpo7 |
C |
A |
14: 70,922,366 (GRCm39) |
R574L |
probably benign |
Het |
|
| Other mutations in Ube3a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00490:Ube3a
|
APN |
7 |
58,921,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00886:Ube3a
|
APN |
7 |
58,934,485 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02037:Ube3a
|
APN |
7 |
58,925,506 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02127:Ube3a
|
APN |
7 |
58,925,789 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02228:Ube3a
|
APN |
7 |
58,938,144 (GRCm39) |
splice site |
probably benign |
|
|
IGL02533:Ube3a
|
APN |
7 |
58,954,580 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02706:Ube3a
|
APN |
7 |
58,921,881 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL03037:Ube3a
|
APN |
7 |
58,896,971 (GRCm39) |
splice site |
probably benign |
|
|
IGL03213:Ube3a
|
APN |
7 |
58,935,870 (GRCm39) |
nonsense |
probably null |
|
|
IGL03306:Ube3a
|
APN |
7 |
58,935,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Kebab
|
UTSW |
7 |
58,938,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Shawarma
|
UTSW |
7 |
58,925,931 (GRCm39) |
nonsense |
probably null |
|
|
PIT4362001:Ube3a
|
UTSW |
7 |
58,925,870 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0847:Ube3a
|
UTSW |
7 |
58,926,334 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1765:Ube3a
|
UTSW |
7 |
58,935,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1771:Ube3a
|
UTSW |
7 |
58,925,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1926:Ube3a
|
UTSW |
7 |
58,926,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1992:Ube3a
|
UTSW |
7 |
58,953,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2026:Ube3a
|
UTSW |
7 |
58,953,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2104:Ube3a
|
UTSW |
7 |
58,926,225 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3176:Ube3a
|
UTSW |
7 |
58,926,267 (GRCm39) |
nonsense |
probably null |
|
|
R3276:Ube3a
|
UTSW |
7 |
58,926,267 (GRCm39) |
nonsense |
probably null |
|
|
R3623:Ube3a
|
UTSW |
7 |
58,921,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3624:Ube3a
|
UTSW |
7 |
58,921,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3690:Ube3a
|
UTSW |
7 |
58,926,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4423:Ube3a
|
UTSW |
7 |
58,925,861 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4583:Ube3a
|
UTSW |
7 |
58,935,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4883:Ube3a
|
UTSW |
7 |
58,893,198 (GRCm39) |
start codon destroyed |
probably benign |
0.21 |
|
R4992:Ube3a
|
UTSW |
7 |
58,934,568 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R5175:Ube3a
|
UTSW |
7 |
58,938,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5397:Ube3a
|
UTSW |
7 |
58,936,660 (GRCm39) |
missense |
probably benign |
0.26 |
|
R5545:Ube3a
|
UTSW |
7 |
58,921,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5572:Ube3a
|
UTSW |
7 |
58,938,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5635:Ube3a
|
UTSW |
7 |
58,938,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5766:Ube3a
|
UTSW |
7 |
58,925,807 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5890:Ube3a
|
UTSW |
7 |
58,921,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5956:Ube3a
|
UTSW |
7 |
58,926,768 (GRCm39) |
unclassified |
probably benign |
|
|
R6388:Ube3a
|
UTSW |
7 |
58,954,669 (GRCm39) |
splice site |
probably null |
|
|
R6464:Ube3a
|
UTSW |
7 |
58,925,931 (GRCm39) |
nonsense |
probably null |
|
|
R6467:Ube3a
|
UTSW |
7 |
58,926,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6474:Ube3a
|
UTSW |
7 |
58,936,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6669:Ube3a
|
UTSW |
7 |
58,926,605 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7003:Ube3a
|
UTSW |
7 |
58,926,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7044:Ube3a
|
UTSW |
7 |
58,938,161 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7187:Ube3a
|
UTSW |
7 |
58,925,653 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7360:Ube3a
|
UTSW |
7 |
58,926,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7363:Ube3a
|
UTSW |
7 |
58,936,751 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7508:Ube3a
|
UTSW |
7 |
58,953,437 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7652:Ube3a
|
UTSW |
7 |
58,893,102 (GRCm39) |
start gained |
probably benign |
|
|
R7768:Ube3a
|
UTSW |
7 |
58,938,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8015:Ube3a
|
UTSW |
7 |
58,934,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8476:Ube3a
|
UTSW |
7 |
58,954,575 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9394:Ube3a
|
UTSW |
7 |
58,921,960 (GRCm39) |
nonsense |
probably null |
|
|
R9404:Ube3a
|
UTSW |
7 |
58,936,763 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCTGTGGTCTAAATACAGTGC -3'
(R):5'- CCATTTCTAGAACATCATTCAGTGG -3'
Sequencing Primer
(F):5'- TACAGTGCTGACCAGATTCG -3'
(R):5'- GAACATCATTCAGTGGTTCATTAATG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation