Incidental Mutation 'IGL01727:Obi1'
ID |
105322 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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: 0.072)
|
Stock # |
IGL01727
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
104714972-104760081 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to A
at 104716823 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Stop codon
at position 517
(R517*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022716
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022716]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000022716
AA Change: R517*
|
SMART Domains |
Protein: ENSMUSP00000022716 Gene: ENSMUSG00000022120 AA Change: R517*
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 |
noncoding transcript
Transcript: ENSMUST00000226423
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam19 |
C |
T |
11: 46,012,380 (GRCm39) |
A292V |
probably benign |
Het |
Ankrd26 |
A |
G |
6: 118,488,597 (GRCm39) |
L1354P |
probably damaging |
Het |
Aox1 |
T |
A |
1: 58,112,387 (GRCm39) |
C720* |
probably null |
Het |
Aqp5 |
T |
C |
15: 99,489,502 (GRCm39) |
L117P |
probably damaging |
Het |
Ccn3 |
G |
A |
15: 54,609,634 (GRCm39) |
A45T |
probably benign |
Het |
Col9a3 |
T |
C |
2: 180,258,358 (GRCm39) |
|
probably null |
Het |
Ctrc |
T |
C |
4: 141,571,072 (GRCm39) |
Y56C |
probably damaging |
Het |
Dsc2 |
T |
A |
18: 20,171,257 (GRCm39) |
T581S |
probably benign |
Het |
Grap2 |
T |
C |
15: 80,518,610 (GRCm39) |
I51T |
probably damaging |
Het |
Herc2 |
A |
G |
7: 55,787,554 (GRCm39) |
Y1737C |
probably damaging |
Het |
Hook3 |
A |
G |
8: 26,560,187 (GRCm39) |
M346T |
probably benign |
Het |
Lancl1 |
C |
T |
1: 67,060,101 (GRCm39) |
C108Y |
probably damaging |
Het |
Lpin2 |
T |
C |
17: 71,553,447 (GRCm39) |
C824R |
probably damaging |
Het |
Mlip |
T |
C |
9: 77,147,030 (GRCm39) |
S88G |
probably damaging |
Het |
Mtdh |
T |
G |
15: 34,083,255 (GRCm39) |
L25R |
probably damaging |
Het |
Musk |
A |
G |
4: 58,303,887 (GRCm39) |
I177V |
probably benign |
Het |
Or12e13 |
T |
C |
2: 87,663,844 (GRCm39) |
S154P |
probably damaging |
Het |
Or4c100 |
A |
G |
2: 88,356,271 (GRCm39) |
M115V |
probably benign |
Het |
Or9i16 |
A |
G |
19: 13,865,242 (GRCm39) |
C111R |
probably damaging |
Het |
Pabpc4l |
C |
A |
3: 46,401,100 (GRCm39) |
E181D |
probably damaging |
Het |
Pcdh18 |
A |
G |
3: 49,710,149 (GRCm39) |
S389P |
probably damaging |
Het |
Ptk7 |
A |
G |
17: 46,883,474 (GRCm39) |
Y864H |
probably damaging |
Het |
Rbp4 |
A |
G |
19: 38,112,500 (GRCm39) |
V155A |
probably benign |
Het |
Rilpl1 |
C |
T |
5: 124,669,007 (GRCm39) |
A14T |
possibly damaging |
Het |
Rnf148 |
T |
A |
6: 23,655,001 (GRCm39) |
|
probably benign |
Het |
Ska2 |
T |
A |
11: 87,006,973 (GRCm39) |
L26Q |
probably damaging |
Het |
Slc29a2 |
T |
A |
19: 5,076,486 (GRCm39) |
F125I |
probably damaging |
Het |
Smap2 |
A |
G |
4: 120,839,405 (GRCm39) |
|
probably benign |
Het |
St6galnac2 |
C |
T |
11: 116,575,945 (GRCm39) |
D169N |
probably damaging |
Het |
Supt7l |
A |
G |
5: 31,677,686 (GRCm39) |
V160A |
possibly damaging |
Het |
Susd1 |
A |
G |
4: 59,412,329 (GRCm39) |
|
probably benign |
Het |
Syne1 |
T |
C |
10: 4,997,842 (GRCm39) |
D375G |
probably damaging |
Het |
Thoc2l |
A |
G |
5: 104,667,379 (GRCm39) |
T634A |
probably benign |
Het |
Tpst2 |
G |
A |
5: 112,457,724 (GRCm39) |
D351N |
probably damaging |
Het |
Trcg1 |
T |
C |
9: 57,149,556 (GRCm39) |
I376T |
probably benign |
Het |
Trcg1 |
T |
A |
9: 57,149,877 (GRCm39) |
I483N |
probably damaging |
Het |
Tsga10 |
T |
C |
1: 37,874,355 (GRCm39) |
E148G |
probably damaging |
Het |
Zranb1 |
G |
T |
7: 132,568,349 (GRCm39) |
D336Y |
probably damaging |
Het |
|
Other mutations in Obi1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
|
Posted On |
2014-01-21 |