Incidental Mutation 'R7533:Ube3d'
| ID |
583416 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ube3d
|
| Ensembl Gene |
ENSMUSG00000032415 |
| Gene Name |
ubiquitin protein ligase E3D |
| Synonyms |
2610018I03Rik, Ube2cbp |
| MMRRC Submission |
045605-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.888)
|
| Stock # |
R7533 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
86189364-86347003 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 86304990 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 284
(F284S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034986
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034986]
[ENSMUST00000121189]
|
| AlphaFold |
Q8BX13 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034986
AA Change: F284S
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000034986
Gene: ENSMUSG00000032415
AA Change: F284S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HECT_2
|
13 |
364 |
1e-104 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121189
|
| SMART Domains |
Protein: ENSMUSP00000113549
Gene: ENSMUSG00000032415
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HECT_2
|
13 |
364 |
2.6e-80 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (36/36) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele cannot be obtained. Heterozygotes exhibit abnormal retinal pigment epithelium morphology and decreased a- and b-wave amplitude. [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 |
|---|
| Agr2 |
T |
C |
12: 36,046,128 (GRCm39) |
|
probably null |
Het |
| Alpk2 |
A |
T |
18: 65,437,674 (GRCm39) |
S1240T |
probably damaging |
Het |
| Atp8b2 |
G |
A |
3: 89,852,831 (GRCm39) |
L144F |
|
Het |
| Cck |
T |
C |
9: 121,319,201 (GRCm39) |
D94G |
probably damaging |
Het |
| Ccser1 |
A |
T |
6: 61,615,474 (GRCm39) |
T659S |
probably benign |
Het |
| Cfap74 |
C |
A |
4: 155,500,200 (GRCm39) |
D15E |
|
Het |
| Commd5 |
G |
A |
15: 76,784,776 (GRCm39) |
A58T |
probably benign |
Het |
| Dctn2 |
A |
G |
10: 127,103,347 (GRCm39) |
D34G |
possibly damaging |
Het |
| Ecpas |
T |
C |
4: 58,809,411 (GRCm39) |
I1654M |
probably benign |
Het |
| Epha6 |
T |
C |
16: 60,025,925 (GRCm39) |
T506A |
probably damaging |
Het |
| Fat4 |
A |
C |
3: 39,061,406 (GRCm39) |
I4330L |
probably benign |
Het |
| Fcho2 |
G |
T |
13: 98,921,307 (GRCm39) |
Q193K |
probably benign |
Het |
| Hace1 |
A |
T |
10: 45,587,570 (GRCm39) |
I890L |
probably benign |
Het |
| Igsf11 |
T |
G |
16: 38,829,236 (GRCm39) |
N102K |
probably benign |
Het |
| Il7r |
G |
A |
15: 9,508,047 (GRCm39) |
S425L |
probably benign |
Het |
| Itga3 |
G |
T |
11: 94,937,344 (GRCm39) |
Q1011K |
probably benign |
Het |
| Kif3c |
T |
A |
12: 3,416,510 (GRCm39) |
I177N |
probably damaging |
Het |
| Neb |
G |
A |
2: 52,114,578 (GRCm39) |
A1048V |
|
Het |
| Neu4 |
C |
T |
1: 93,950,122 (GRCm39) |
T27M |
probably benign |
Het |
| Or52b3 |
T |
C |
7: 102,203,718 (GRCm39) |
S76P |
probably damaging |
Het |
| P4htm |
T |
C |
9: 108,474,136 (GRCm39) |
H134R |
probably benign |
Het |
| Padi6 |
T |
C |
4: 140,458,506 (GRCm39) |
D462G |
probably damaging |
Het |
| Pi4ka |
T |
C |
16: 17,115,525 (GRCm39) |
D1375G |
|
Het |
| Ptgr1 |
C |
T |
4: 58,971,011 (GRCm39) |
R247H |
possibly damaging |
Het |
| Rad50 |
T |
C |
11: 53,589,746 (GRCm39) |
N152D |
probably damaging |
Het |
| Serpina1c |
T |
A |
12: 103,863,566 (GRCm39) |
K211N |
probably damaging |
Het |
| Sgsh |
T |
C |
11: 119,238,696 (GRCm39) |
E256G |
probably damaging |
Het |
| Tnrc6b |
T |
C |
15: 80,811,942 (GRCm39) |
|
probably null |
Het |
| Usp13 |
A |
G |
3: 32,973,091 (GRCm39) |
D757G |
probably damaging |
Het |
| Vmn1r173 |
C |
T |
7: 23,402,071 (GRCm39) |
A102V |
probably benign |
Het |
| Vmn2r29 |
G |
T |
7: 7,244,656 (GRCm39) |
A406D |
probably damaging |
Het |
| Wdfy3 |
G |
A |
5: 102,030,354 (GRCm39) |
R2385C |
probably benign |
Het |
| Zfp112 |
A |
T |
7: 23,824,752 (GRCm39) |
K244M |
possibly damaging |
Het |
| Zfp61 |
T |
C |
7: 23,990,504 (GRCm39) |
Q549R |
probably benign |
Het |
|
| Other mutations in Ube3d |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0653:Ube3d
|
UTSW |
9 |
86,334,043 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1163:Ube3d
|
UTSW |
9 |
86,322,648 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1928:Ube3d
|
UTSW |
9 |
86,305,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1938:Ube3d
|
UTSW |
9 |
86,330,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2131:Ube3d
|
UTSW |
9 |
86,254,540 (GRCm39) |
splice site |
probably null |
|
|
R2760:Ube3d
|
UTSW |
9 |
86,305,027 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4916:Ube3d
|
UTSW |
9 |
86,304,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5434:Ube3d
|
UTSW |
9 |
86,309,460 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5804:Ube3d
|
UTSW |
9 |
86,307,401 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5827:Ube3d
|
UTSW |
9 |
86,254,489 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5936:Ube3d
|
UTSW |
9 |
86,254,512 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7275:Ube3d
|
UTSW |
9 |
86,322,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7507:Ube3d
|
UTSW |
9 |
86,304,939 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7787:Ube3d
|
UTSW |
9 |
86,254,395 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9252:Ube3d
|
UTSW |
9 |
86,254,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9506:Ube3d
|
UTSW |
9 |
86,330,825 (GRCm39) |
missense |
probably damaging |
0.96 |
|
X0019:Ube3d
|
UTSW |
9 |
86,304,941 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATTCCTGGTGCCCACATGG -3'
(R):5'- TCTGGGAGCTCCAAATATTTCAG -3'
Sequencing Primer
(F):5'- ACATGGTGATCGCAGCTG -3'
(R):5'- AGCATTGCCATTTATATAGATGCC -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation