Incidental Mutation 'R5167:Obi1'
| ID |
397365 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Obi1
|
| Ensembl Gene |
ENSMUSG00000022120 |
| Gene Name |
ORC ubiquitin ligase 1 |
| Synonyms |
2610206B13Rik, 2810449K13Rik, Rnf219 |
| MMRRC Submission |
042747-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R5167 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
104714972-104760081 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 104716223 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 717
(S717P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022716
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022716]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022716
AA Change: S717P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000022716
Gene: ENSMUSG00000022120
AA Change: S717P
| 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
|
| Meta Mutation Damage Score |
0.1309 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
97% (38/39) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1b |
T |
A |
5: 8,862,656 (GRCm39) |
Y113N |
probably damaging |
Het |
| Bcan |
G |
T |
3: 87,901,514 (GRCm39) |
S396Y |
probably damaging |
Het |
| Calm3 |
T |
C |
7: 16,651,626 (GRCm39) |
D21G |
probably damaging |
Het |
| Cldn23 |
C |
T |
8: 36,293,474 (GRCm39) |
V5M |
possibly damaging |
Het |
| D630003M21Rik |
A |
G |
2: 158,047,665 (GRCm39) |
S735P |
probably damaging |
Het |
| Dscaml1 |
T |
C |
9: 45,628,730 (GRCm39) |
Y1095H |
probably damaging |
Het |
| Esr2 |
T |
C |
12: 76,170,048 (GRCm39) |
T427A |
probably benign |
Het |
| Fbxo28 |
T |
C |
1: 182,145,558 (GRCm39) |
I177V |
possibly damaging |
Het |
| Fubp1 |
T |
C |
3: 151,926,989 (GRCm39) |
L372P |
possibly damaging |
Het |
| Glis1 |
G |
A |
4: 107,491,891 (GRCm39) |
G585E |
probably damaging |
Het |
| Gm7258 |
T |
C |
7: 128,197,791 (GRCm39) |
|
noncoding transcript |
Het |
| Hecw1 |
C |
T |
13: 14,460,242 (GRCm39) |
R613Q |
probably damaging |
Het |
| Kif13b |
T |
C |
14: 65,010,384 (GRCm39) |
S1228P |
probably damaging |
Het |
| Knl1 |
A |
G |
2: 118,900,512 (GRCm39) |
I738V |
probably damaging |
Het |
| Lig1 |
T |
A |
7: 13,044,983 (GRCm39) |
V892D |
probably damaging |
Het |
| Lvrn |
T |
A |
18: 47,013,814 (GRCm39) |
Y499N |
probably damaging |
Het |
| Ly9 |
C |
A |
1: 171,432,773 (GRCm39) |
W80L |
probably damaging |
Het |
| Lypd5 |
T |
C |
7: 24,051,889 (GRCm39) |
V68A |
possibly damaging |
Het |
| Ngdn |
C |
T |
14: 55,259,656 (GRCm39) |
Q236* |
probably null |
Het |
| Nudt7 |
C |
A |
8: 114,878,567 (GRCm39) |
C154* |
probably null |
Het |
| Or14j10 |
C |
A |
17: 37,934,642 (GRCm39) |
E295* |
probably null |
Het |
| Or4f14b |
A |
T |
2: 111,775,447 (GRCm39) |
M118K |
probably damaging |
Het |
| Or5b117 |
T |
A |
19: 13,431,741 (GRCm39) |
I47F |
probably damaging |
Het |
| Paxbp1 |
A |
G |
16: 90,819,555 (GRCm39) |
|
probably null |
Het |
| Pcnt |
G |
T |
10: 76,256,258 (GRCm39) |
Q661K |
probably damaging |
Het |
| Plekha1 |
G |
A |
7: 130,487,179 (GRCm39) |
|
probably null |
Het |
| Polr1c |
G |
T |
17: 46,558,635 (GRCm39) |
|
probably benign |
Het |
| Rac3 |
A |
G |
11: 120,613,421 (GRCm39) |
D58G |
probably null |
Het |
| Rgl2 |
C |
T |
17: 34,154,948 (GRCm39) |
R203* |
probably null |
Het |
| Ryr1 |
T |
C |
7: 28,767,118 (GRCm39) |
D2948G |
probably damaging |
Het |
| Serpina12 |
A |
T |
12: 104,004,179 (GRCm39) |
L151Q |
probably damaging |
Het |
| Sf3a1 |
T |
C |
11: 4,127,456 (GRCm39) |
V594A |
possibly damaging |
Het |
| Spdl1 |
G |
T |
11: 34,704,187 (GRCm39) |
H549N |
possibly damaging |
Het |
| Srp68 |
C |
A |
11: 116,156,300 (GRCm39) |
E147D |
probably damaging |
Het |
| Zfp352 |
A |
G |
4: 90,112,453 (GRCm39) |
T198A |
possibly 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 |
|
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'- TTCTTCAAGATGCAGTACCCTGG -3'
(R):5'- TCAGACAGAGTTTTCCCAGGG -3'
Sequencing Primer
(F):5'- TACCCTGGAGATAGGTGACC -3'
(R):5'- CTCTGTTAAGCAGTTCCCAGGG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation