Incidental Mutation 'R2182:Obi1'
| ID |
237256 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Obi1
|
| Ensembl Gene |
ENSMUSG00000022120 |
| Gene Name |
ORC ubiquitin ligase 1 |
| Synonyms |
2610206B13Rik, 2810449K13Rik, Rnf219 |
| MMRRC Submission |
040184-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R2182 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
104714972-104760081 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 104743612 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 156
(S156P)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000022716
AA Change: S156P
PolyPhen 2
Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000022716
Gene: ENSMUSG00000022120
AA Change: S156P
| 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 |
possibly damaging
Transcript: ENSMUST00000227640
AA Change: S156P
PolyPhen 2
Score 0.516 (Sensitivity: 0.88; Specificity: 0.90)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228210
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228448
AA Change: S156P
PolyPhen 2
Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930550C14Rik |
A |
G |
9: 53,334,243 (GRCm39) |
H17R |
probably damaging |
Het |
| Abca15 |
G |
A |
7: 119,939,450 (GRCm39) |
W281* |
probably null |
Het |
| Aloxe3 |
G |
A |
11: 69,020,426 (GRCm39) |
V157M |
possibly damaging |
Het |
| Arhgap26 |
G |
T |
18: 39,490,862 (GRCm39) |
|
probably benign |
Het |
| Atp7b |
T |
C |
8: 22,504,563 (GRCm39) |
N698S |
probably damaging |
Het |
| Clec4a4 |
A |
G |
6: 122,990,716 (GRCm39) |
|
probably null |
Het |
| Clgn |
C |
T |
8: 84,137,039 (GRCm39) |
T252I |
possibly damaging |
Het |
| Cyp2a12 |
A |
T |
7: 26,730,571 (GRCm39) |
N179Y |
probably damaging |
Het |
| D630045J12Rik |
C |
T |
6: 38,151,082 (GRCm39) |
|
probably null |
Het |
| Dennd5a |
G |
T |
7: 109,533,201 (GRCm39) |
R190S |
probably benign |
Het |
| Dtx4 |
C |
A |
19: 12,460,471 (GRCm39) |
G384V |
probably null |
Het |
| Dxo |
T |
C |
17: 35,057,868 (GRCm39) |
V191A |
probably benign |
Het |
| Eprs1 |
G |
A |
1: 185,111,939 (GRCm39) |
|
probably null |
Het |
| Fntb |
A |
G |
12: 76,909,309 (GRCm39) |
N99S |
probably benign |
Het |
| Gm5773 |
T |
A |
3: 93,680,820 (GRCm39) |
I164K |
probably benign |
Het |
| Golm2 |
A |
G |
2: 121,697,909 (GRCm39) |
D75G |
probably damaging |
Het |
| Hyal5 |
T |
C |
6: 24,877,879 (GRCm39) |
I325T |
probably damaging |
Het |
| Igsf8 |
G |
A |
1: 172,118,295 (GRCm39) |
|
probably null |
Het |
| Lamc2 |
A |
G |
1: 153,002,612 (GRCm39) |
V17A |
possibly damaging |
Het |
| Lpxn |
T |
C |
19: 12,810,122 (GRCm39) |
|
probably null |
Het |
| Macf1 |
A |
G |
4: 123,386,464 (GRCm39) |
V1296A |
probably damaging |
Het |
| Mpdz |
A |
T |
4: 81,266,959 (GRCm39) |
L318Q |
probably damaging |
Het |
| Mpl |
T |
A |
4: 118,314,610 (GRCm39) |
Q13L |
probably benign |
Het |
| Mpnd |
A |
G |
17: 56,322,964 (GRCm39) |
S399G |
probably benign |
Het |
| Mrps5 |
T |
C |
2: 127,444,407 (GRCm39) |
L347P |
probably damaging |
Het |
| Naip1 |
T |
A |
13: 100,550,188 (GRCm39) |
Q1217H |
probably benign |
Het |
| Nav2 |
G |
A |
7: 49,247,002 (GRCm39) |
V2176I |
probably benign |
Het |
| Or13p3 |
T |
C |
4: 118,567,542 (GRCm39) |
*313R |
probably null |
Het |
| Or7g33 |
T |
C |
9: 19,448,638 (GRCm39) |
N196S |
probably benign |
Het |
| Or8b43 |
A |
G |
9: 38,360,420 (GRCm39) |
N84S |
probably benign |
Het |
| Or8g36 |
A |
T |
9: 39,422,722 (GRCm39) |
M98K |
probably damaging |
Het |
| Pbx2 |
C |
A |
17: 34,814,640 (GRCm39) |
Y324* |
probably null |
Het |
| Pcsk7 |
T |
A |
9: 45,839,917 (GRCm39) |
C702S |
probably benign |
Het |
| Pramel11 |
T |
A |
4: 143,623,760 (GRCm39) |
H138L |
possibly damaging |
Het |
| Rictor |
T |
C |
15: 6,801,685 (GRCm39) |
S458P |
probably damaging |
Het |
| Scaf4 |
T |
C |
16: 90,027,028 (GRCm39) |
M905V |
probably benign |
Het |
| Scarf2 |
T |
C |
16: 17,620,886 (GRCm39) |
C185R |
probably damaging |
Het |
| Scd1 |
T |
G |
19: 44,391,732 (GRCm39) |
I101L |
probably benign |
Het |
| Slc6a2 |
A |
G |
8: 93,687,876 (GRCm39) |
M1V |
probably null |
Het |
| Sost |
T |
C |
11: 101,854,676 (GRCm39) |
Y211C |
probably damaging |
Het |
| Sphkap |
A |
G |
1: 83,254,405 (GRCm39) |
S828P |
probably damaging |
Het |
| Tnn |
T |
C |
1: 159,968,170 (GRCm39) |
|
probably null |
Het |
| Tnrc18 |
T |
C |
5: 142,745,816 (GRCm39) |
K1319R |
unknown |
Het |
| Vmn2r60 |
A |
G |
7: 41,844,931 (GRCm39) |
T765A |
probably benign |
Het |
| Vmn2r91 |
C |
A |
17: 18,325,691 (GRCm39) |
T103K |
possibly damaging |
Het |
| Zbtb44 |
T |
C |
9: 30,977,972 (GRCm39) |
C429R |
possibly damaging |
Het |
| Zc3h4 |
G |
A |
7: 16,156,441 (GRCm39) |
G327D |
unknown |
Het |
| Zfp292 |
A |
G |
4: 34,807,417 (GRCm39) |
C1876R |
probably damaging |
Het |
| Zfp839 |
C |
T |
12: 110,834,772 (GRCm39) |
L676F |
probably damaging |
Het |
| Zg16 |
A |
G |
7: 126,649,544 (GRCm39) |
L139P |
probably damaging |
Het |
| Zscan12 |
A |
G |
13: 21,552,961 (GRCm39) |
I262V |
probably benign |
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 |
|
|
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 |
|
R6754:Obi1
|
UTSW |
14 |
104,740,850 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TGGTGAGCCAAGGTATATGGC -3'
(R):5'- TCTGGCTTAGCATAGACAAGCC -3'
Sequencing Primer
(F):5'- GAGCCAAGGTATATGGCTATTTATAC -3'
(R):5'- GGCTTAGCATAGACAAGCCATTAGTC -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation