Incidental Mutation 'R6482:Obi1'
ID |
517177 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Obi1
|
Ensembl Gene |
ENSMUSG00000022120 |
Gene Name |
ORC ubiquitin ligase 1 |
Synonyms |
2610206B13Rik, 2810449K13Rik, Rnf219 |
MMRRC Submission |
044614-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.074)
|
Stock # |
R6482 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
104714972-104760081 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 104717253 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Stop codon
at position 373
(C373*)
|
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: C373*
|
SMART Domains |
Protein: ENSMUSP00000022716 Gene: ENSMUSG00000022120 AA Change: C373*
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 |
0.9707 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.6%
|
Validation Efficiency |
100% (40/40) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acadvl |
T |
C |
11: 69,902,388 (GRCm39) |
I415V |
probably benign |
Het |
Akap8l |
A |
G |
17: 32,564,370 (GRCm39) |
F6L |
possibly damaging |
Het |
Ano3 |
T |
A |
2: 110,527,400 (GRCm39) |
N603Y |
probably damaging |
Het |
Casp8ap2 |
T |
C |
4: 32,634,813 (GRCm39) |
S116P |
probably damaging |
Het |
Ccdc110 |
A |
T |
8: 46,395,825 (GRCm39) |
Q572L |
probably benign |
Het |
Chit1 |
T |
C |
1: 134,070,980 (GRCm39) |
S20P |
probably damaging |
Het |
Col22a1 |
G |
A |
15: 71,762,338 (GRCm39) |
P107L |
possibly damaging |
Het |
Dpys |
T |
C |
15: 39,705,369 (GRCm39) |
H248R |
probably damaging |
Het |
Dsg2 |
A |
T |
18: 20,734,371 (GRCm39) |
K783I |
possibly damaging |
Het |
Efnb2 |
A |
T |
8: 8,670,637 (GRCm39) |
V321E |
probably damaging |
Het |
Eif1ad13 |
A |
G |
12: 87,762,565 (GRCm39) |
Y95C |
probably damaging |
Het |
Fbxo11 |
A |
T |
17: 88,320,086 (GRCm39) |
Y209N |
probably benign |
Het |
Gm35315 |
A |
T |
5: 110,225,955 (GRCm39) |
C495S |
possibly damaging |
Het |
Hrh1 |
A |
G |
6: 114,457,724 (GRCm39) |
Q335R |
possibly damaging |
Het |
Il12rb2 |
A |
G |
6: 67,333,670 (GRCm39) |
L203P |
probably damaging |
Het |
Itgav |
T |
C |
2: 83,624,614 (GRCm39) |
S735P |
probably damaging |
Het |
Klrg1 |
G |
T |
6: 122,248,412 (GRCm39) |
C162* |
probably null |
Het |
Mcc |
T |
C |
18: 44,578,931 (GRCm39) |
S651G |
possibly damaging |
Het |
Nkx2-2 |
T |
A |
2: 147,027,896 (GRCm39) |
I15F |
probably damaging |
Het |
Nppa |
G |
A |
4: 148,085,328 (GRCm39) |
V13I |
probably benign |
Het |
Or8i2 |
G |
C |
2: 86,852,869 (GRCm39) |
F6L |
probably benign |
Het |
Pde2a |
A |
G |
7: 101,150,244 (GRCm39) |
N228D |
probably benign |
Het |
Pgpep1l |
C |
T |
7: 67,888,815 (GRCm39) |
|
probably null |
Het |
Plekhg3 |
A |
G |
12: 76,622,778 (GRCm39) |
N673D |
probably benign |
Het |
Plxna4 |
A |
G |
6: 32,493,672 (GRCm39) |
S315P |
probably benign |
Het |
Psg21 |
A |
T |
7: 18,388,664 (GRCm39) |
|
probably null |
Het |
Rnf111 |
T |
C |
9: 70,336,889 (GRCm39) |
T925A |
probably damaging |
Het |
Spag9 |
T |
C |
11: 93,984,328 (GRCm39) |
F734L |
possibly damaging |
Het |
Tarbp1 |
A |
G |
8: 127,177,434 (GRCm39) |
V746A |
probably benign |
Het |
Tmtc1 |
A |
G |
6: 148,314,243 (GRCm39) |
F119L |
probably benign |
Het |
Ttc21b |
A |
G |
2: 66,057,244 (GRCm39) |
M576T |
probably benign |
Het |
Usp48 |
T |
A |
4: 137,362,232 (GRCm39) |
V765E |
probably damaging |
Het |
Vmn1r20 |
A |
G |
6: 57,409,093 (GRCm39) |
S140G |
probably benign |
Het |
Vwde |
A |
G |
6: 13,205,843 (GRCm39) |
S235P |
probably damaging |
Het |
Wapl |
A |
G |
14: 34,414,649 (GRCm39) |
S504G |
probably benign |
Het |
Wnt5b |
A |
T |
6: 119,410,573 (GRCm39) |
L289Q |
possibly damaging |
Het |
Zfp142 |
G |
A |
1: 74,609,376 (GRCm39) |
|
probably null |
Het |
Zfp385b |
ATCTTCTTCTTCT |
ATCTTCTTCTTCTTCT |
2: 77,549,992 (GRCm39) |
|
probably benign |
Het |
Zfp948 |
A |
G |
17: 21,807,813 (GRCm39) |
H335R |
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 |
|
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 |
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'- TTTGAGGAAGCAAAGCAGTCTG -3'
(R):5'- ACTAGCTGACTCCGGTTCTG -3'
Sequencing Primer
(F):5'- TTGAGGAAGCAAAGCAGTCTGATTTC -3'
(R):5'- TTCTGTCAGACAGGAGAGCACC -3'
|
Posted On |
2018-05-21 |