Incidental Mutation 'R2760:Ube3d'
| ID |
254004 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ube3d
|
| Ensembl Gene |
ENSMUSG00000032415 |
| Gene Name |
ubiquitin protein ligase E3D |
| Synonyms |
2610018I03Rik, Ube2cbp |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.888)
|
| Stock # |
R2760 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
86189364-86347003 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 86305027 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 272
(I272V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034986
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034986]
[ENSMUST00000121189]
|
| AlphaFold |
Q8BX13 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034986
AA Change: I272V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000034986
Gene: ENSMUSG00000032415
AA Change: I272V
| 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: 99.2%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
|
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alg11 |
C |
A |
8: 22,558,095 (GRCm39) |
A469E |
probably benign |
Het |
| Atp8a2 |
C |
T |
14: 60,097,641 (GRCm39) |
V796I |
probably benign |
Het |
| Btnl1 |
T |
G |
17: 34,600,012 (GRCm39) |
W172G |
probably damaging |
Het |
| Ceacam1 |
T |
C |
7: 25,176,899 (GRCm39) |
T21A |
probably damaging |
Het |
| Dipk1b |
A |
G |
2: 26,525,837 (GRCm39) |
H257R |
probably benign |
Het |
| Frmpd1 |
A |
C |
4: 45,244,667 (GRCm39) |
I119L |
possibly damaging |
Het |
| Haus6 |
A |
T |
4: 86,501,413 (GRCm39) |
Y819* |
probably null |
Het |
| Ildr2 |
A |
G |
1: 166,131,175 (GRCm39) |
R344G |
probably damaging |
Het |
| Irs1 |
T |
C |
1: 82,266,291 (GRCm39) |
I642V |
probably damaging |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
| Lum |
T |
C |
10: 97,404,633 (GRCm39) |
V176A |
probably benign |
Het |
| Nobox |
A |
G |
6: 43,281,040 (GRCm39) |
L478P |
probably damaging |
Het |
| Or10g6 |
T |
A |
9: 39,933,692 (GRCm39) |
M1K |
probably null |
Het |
| Or4a67 |
T |
A |
2: 88,597,980 (GRCm39) |
R226S |
possibly damaging |
Het |
| Or55b4 |
T |
C |
7: 102,133,583 (GRCm39) |
H248R |
probably damaging |
Het |
| Or6b2b |
A |
G |
1: 92,418,802 (GRCm39) |
V225A |
probably damaging |
Het |
| Or7a42 |
A |
T |
10: 78,791,876 (GRCm39) |
Y279F |
probably damaging |
Het |
| Rtn1 |
A |
T |
12: 72,455,136 (GRCm39) |
C64S |
probably benign |
Het |
| Senp6 |
A |
G |
9: 80,029,260 (GRCm39) |
Y285C |
probably null |
Het |
| Slco1a5 |
C |
A |
6: 142,195,997 (GRCm39) |
M335I |
probably benign |
Het |
| Spg11 |
A |
T |
2: 121,927,840 (GRCm39) |
I648K |
probably damaging |
Het |
| Ulk1 |
C |
T |
5: 110,937,223 (GRCm39) |
R691Q |
probably benign |
Het |
| Utrn |
A |
G |
10: 12,566,622 (GRCm39) |
V1180A |
probably damaging |
Het |
| Vill |
T |
C |
9: 118,895,950 (GRCm39) |
|
probably null |
Het |
| Vmn2r101 |
T |
C |
17: 19,809,901 (GRCm39) |
I229T |
probably benign |
Het |
| Zbtb8b |
A |
T |
4: 129,326,293 (GRCm39) |
L291M |
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 |
|
|
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 |
|
R7533:Ube3d
|
UTSW |
9 |
86,304,990 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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'- CGCAGCTGAAATGCAACGTG -3'
(R):5'- TCTGGGAGCTCCAAATATTTCAG -3'
Sequencing Primer
(F):5'- TGCAACGTGGAACAGAAAACC -3'
(R):5'- AGCATTGCCATTTATATAGATGCC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation