Incidental Mutation 'R6754:Obi1'
ID |
530969 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Obi1
|
Ensembl Gene |
ENSMUSG00000022120 |
Gene Name |
ORC ubiquitin ligase 1 |
Synonyms |
2610206B13Rik, 2810449K13Rik, Rnf219 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.074)
|
Stock # |
R6754 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
104714972-104760081 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 104740850 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Lysine
at position 191
(E191K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022716
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022716]
[ENSMUST00000227640]
[ENSMUST00000228210]
[ENSMUST00000228448]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000022716
AA Change: E191K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000022716 Gene: ENSMUSG00000022120 AA Change: E191K
Domain | Start | End | E-Value | Type |
RING
|
18 |
55 |
2.78e-3 |
SMART |
coiled coil region
|
87 |
129 |
N/A |
INTRINSIC |
coiled coil region
|
157 |
263 |
N/A |
INTRINSIC |
low complexity region
|
302 |
319 |
N/A |
INTRINSIC |
low complexity region
|
647 |
658 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000227640
AA Change: E191K
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228210
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000228448
AA Change: E191K
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 98.9%
- 20x: 97.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsbg3 |
T |
C |
17: 57,190,358 (GRCm39) |
F352L |
probably damaging |
Het |
Acta2 |
T |
C |
19: 34,222,383 (GRCm39) |
D246G |
probably damaging |
Het |
Ank2 |
A |
G |
3: 126,890,488 (GRCm39) |
|
probably benign |
Het |
Bmpr2 |
T |
A |
1: 59,909,439 (GRCm39) |
I971N |
probably damaging |
Het |
C9 |
C |
A |
15: 6,519,424 (GRCm39) |
C8* |
probably null |
Het |
Casp2 |
T |
A |
6: 42,246,264 (GRCm39) |
N207K |
probably damaging |
Het |
Cd302 |
T |
G |
2: 60,102,451 (GRCm39) |
D56A |
probably benign |
Het |
Cecr2 |
C |
T |
6: 120,734,539 (GRCm39) |
P605S |
probably damaging |
Het |
Cep152 |
A |
G |
2: 125,429,588 (GRCm39) |
V723A |
probably damaging |
Het |
Col17a1 |
C |
T |
19: 47,639,160 (GRCm39) |
|
probably null |
Het |
Ctsk |
T |
C |
3: 95,409,996 (GRCm39) |
V168A |
probably damaging |
Het |
Cyp2c54 |
A |
T |
19: 40,060,004 (GRCm39) |
N176K |
probably damaging |
Het |
Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
F5 |
A |
G |
1: 164,021,332 (GRCm39) |
D1269G |
probably damaging |
Het |
Fat3 |
C |
T |
9: 15,826,357 (GRCm39) |
E4532K |
possibly damaging |
Het |
Hivep2 |
G |
A |
10: 14,005,382 (GRCm39) |
G660D |
probably benign |
Het |
Hspb3 |
A |
T |
13: 113,799,688 (GRCm39) |
I114K |
probably damaging |
Het |
Irag1 |
G |
A |
7: 110,528,719 (GRCm39) |
P43S |
probably damaging |
Het |
Itgb7 |
T |
G |
15: 102,124,595 (GRCm39) |
*807C |
probably null |
Het |
Kbtbd2 |
A |
G |
6: 56,756,239 (GRCm39) |
V499A |
probably damaging |
Het |
Lemd3 |
A |
T |
10: 120,769,565 (GRCm39) |
I589N |
probably damaging |
Het |
Mettl13 |
T |
C |
1: 162,375,692 (GRCm39) |
Y45C |
probably damaging |
Het |
Mllt6 |
C |
T |
11: 97,565,273 (GRCm39) |
T571I |
probably damaging |
Het |
Nabp1 |
A |
G |
1: 51,513,699 (GRCm39) |
I99T |
probably damaging |
Het |
Ndufa4 |
A |
G |
6: 11,906,052 (GRCm39) |
V33A |
probably benign |
Het |
Nr1h5 |
A |
G |
3: 102,856,913 (GRCm39) |
S200P |
probably damaging |
Het |
Ntsr1 |
G |
A |
2: 180,184,476 (GRCm39) |
R393H |
probably benign |
Het |
Or14j4 |
T |
C |
17: 37,921,046 (GRCm39) |
N199D |
probably benign |
Het |
Or4c116 |
G |
T |
2: 88,942,640 (GRCm39) |
T72N |
possibly damaging |
Het |
Pcdhb21 |
A |
T |
18: 37,647,736 (GRCm39) |
K288N |
probably benign |
Het |
Pla2g6 |
T |
C |
15: 79,190,510 (GRCm39) |
N351D |
probably benign |
Het |
Polg |
T |
C |
7: 79,109,584 (GRCm39) |
E411G |
probably damaging |
Het |
Prdm11 |
A |
G |
2: 92,844,137 (GRCm39) |
L31P |
probably damaging |
Het |
Rab27b |
G |
A |
18: 70,129,174 (GRCm39) |
T40I |
probably damaging |
Het |
Ruvbl2 |
T |
C |
7: 45,078,182 (GRCm39) |
D97G |
probably benign |
Het |
Saxo4 |
A |
T |
19: 10,454,453 (GRCm39) |
Y328N |
probably damaging |
Het |
Sema3a |
T |
C |
5: 13,649,243 (GRCm39) |
V664A |
possibly damaging |
Het |
Sh2d3c |
T |
C |
2: 32,644,542 (GRCm39) |
S842P |
probably damaging |
Het |
Spam1 |
A |
G |
6: 24,796,315 (GRCm39) |
T89A |
probably damaging |
Het |
Stab1 |
C |
T |
14: 30,863,038 (GRCm39) |
G2187E |
probably benign |
Het |
Tff2 |
C |
A |
17: 31,363,207 (GRCm39) |
A6S |
probably benign |
Het |
Trim80 |
T |
C |
11: 115,339,000 (GRCm39) |
V610A |
probably damaging |
Het |
Trp53bp1 |
A |
G |
2: 121,101,057 (GRCm39) |
V47A |
possibly damaging |
Het |
Ufl1 |
G |
A |
4: 25,267,796 (GRCm39) |
Q292* |
probably null |
Het |
Ulk1 |
A |
T |
5: 110,938,259 (GRCm39) |
V571E |
possibly damaging |
Het |
Usp24 |
A |
T |
4: 106,217,617 (GRCm39) |
N447Y |
probably damaging |
Het |
Vmn1r81 |
A |
T |
7: 11,993,774 (GRCm39) |
I278K |
probably damaging |
Het |
|
Other mutations in Obi1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01727:Obi1
|
APN |
14 |
104,716,823 (GRCm39) |
nonsense |
probably null |
|
IGL01731:Obi1
|
APN |
14 |
104,716,738 (GRCm39) |
missense |
probably damaging |
1.00 |
I2505:Obi1
|
UTSW |
14 |
104,740,885 (GRCm39) |
splice site |
probably benign |
|
IGL03098:Obi1
|
UTSW |
14 |
104,716,253 (GRCm39) |
missense |
possibly damaging |
0.93 |
PIT4651001:Obi1
|
UTSW |
14 |
104,743,692 (GRCm39) |
missense |
probably damaging |
0.99 |
R0047:Obi1
|
UTSW |
14 |
104,740,780 (GRCm39) |
splice site |
probably null |
|
R0047:Obi1
|
UTSW |
14 |
104,740,780 (GRCm39) |
splice site |
probably null |
|
R0394:Obi1
|
UTSW |
14 |
104,716,289 (GRCm39) |
missense |
possibly damaging |
0.74 |
R0608:Obi1
|
UTSW |
14 |
104,716,963 (GRCm39) |
missense |
probably damaging |
1.00 |
R0727:Obi1
|
UTSW |
14 |
104,717,624 (GRCm39) |
missense |
probably damaging |
1.00 |
R1109:Obi1
|
UTSW |
14 |
104,717,200 (GRCm39) |
nonsense |
probably null |
|
R1774:Obi1
|
UTSW |
14 |
104,717,098 (GRCm39) |
missense |
possibly damaging |
0.68 |
R1922:Obi1
|
UTSW |
14 |
104,716,622 (GRCm39) |
missense |
probably benign |
0.02 |
R2018:Obi1
|
UTSW |
14 |
104,759,978 (GRCm39) |
missense |
probably damaging |
1.00 |
R2061:Obi1
|
UTSW |
14 |
104,759,968 (GRCm39) |
splice site |
probably benign |
|
R2182:Obi1
|
UTSW |
14 |
104,743,612 (GRCm39) |
missense |
possibly damaging |
0.55 |
R2336:Obi1
|
UTSW |
14 |
104,716,318 (GRCm39) |
missense |
probably damaging |
1.00 |
R4308:Obi1
|
UTSW |
14 |
104,717,029 (GRCm39) |
missense |
probably damaging |
0.97 |
R4355:Obi1
|
UTSW |
14 |
104,716,693 (GRCm39) |
missense |
probably benign |
0.01 |
R4703:Obi1
|
UTSW |
14 |
104,743,644 (GRCm39) |
missense |
probably benign |
0.03 |
R4738:Obi1
|
UTSW |
14 |
104,747,819 (GRCm39) |
missense |
probably damaging |
1.00 |
R4739:Obi1
|
UTSW |
14 |
104,747,819 (GRCm39) |
missense |
probably damaging |
1.00 |
R4869:Obi1
|
UTSW |
14 |
104,716,252 (GRCm39) |
missense |
probably damaging |
0.99 |
R5025:Obi1
|
UTSW |
14 |
104,745,466 (GRCm39) |
missense |
probably damaging |
1.00 |
R5054:Obi1
|
UTSW |
14 |
104,745,466 (GRCm39) |
missense |
probably damaging |
1.00 |
R5167:Obi1
|
UTSW |
14 |
104,716,223 (GRCm39) |
missense |
probably damaging |
1.00 |
R6356:Obi1
|
UTSW |
14 |
104,716,313 (GRCm39) |
missense |
probably damaging |
0.99 |
R6427:Obi1
|
UTSW |
14 |
104,717,662 (GRCm39) |
missense |
possibly damaging |
0.70 |
R6482:Obi1
|
UTSW |
14 |
104,717,253 (GRCm39) |
nonsense |
probably null |
|
R6518:Obi1
|
UTSW |
14 |
104,716,501 (GRCm39) |
missense |
probably damaging |
1.00 |
R6619:Obi1
|
UTSW |
14 |
104,759,993 (GRCm39) |
missense |
possibly damaging |
0.88 |
R6731:Obi1
|
UTSW |
14 |
104,716,910 (GRCm39) |
missense |
probably benign |
0.06 |
R6812:Obi1
|
UTSW |
14 |
104,747,868 (GRCm39) |
missense |
unknown |
|
R7225:Obi1
|
UTSW |
14 |
104,717,294 (GRCm39) |
missense |
probably benign |
0.00 |
R7567:Obi1
|
UTSW |
14 |
104,716,814 (GRCm39) |
missense |
probably damaging |
1.00 |
R8133:Obi1
|
UTSW |
14 |
104,716,681 (GRCm39) |
nonsense |
probably null |
|
R8322:Obi1
|
UTSW |
14 |
104,717,091 (GRCm39) |
missense |
probably damaging |
1.00 |
R8682:Obi1
|
UTSW |
14 |
104,717,669 (GRCm39) |
missense |
probably damaging |
0.99 |
R8780:Obi1
|
UTSW |
14 |
104,717,082 (GRCm39) |
nonsense |
probably null |
|
R8986:Obi1
|
UTSW |
14 |
104,745,418 (GRCm39) |
missense |
probably damaging |
1.00 |
X0002:Obi1
|
UTSW |
14 |
104,745,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GCACTTGATGTTCAGACACATTCG -3'
(R):5'- GGGCCAGTCAGTTTAGTGAC -3'
Sequencing Primer
(F):5'- CACATTCGTCTTTTCTAACTAAAGGG -3'
(R):5'- TCCTGAGTGTCATGTCGT -3'
|
Posted On |
2018-08-01 |