Incidental Mutation 'R5277:Bco1'
ID |
404007 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Bco1
|
Ensembl Gene |
ENSMUSG00000031845 |
Gene Name |
beta-carotene oxygenase 1 |
Synonyms |
Bcdo, Cmoi, Bcdo1, Bcmo1, beta-CD, betaCMOOX |
MMRRC Submission |
042864-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.123)
|
Stock # |
R5277 (G1)
|
Quality Score |
198 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
117822593-117860459 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 117844128 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134815
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034308]
[ENSMUST00000167370]
[ENSMUST00000176860]
|
AlphaFold |
Q9JJS6 |
Predicted Effect |
probably null
Transcript: ENSMUST00000034308
|
SMART Domains |
Protein: ENSMUSP00000034308 Gene: ENSMUSG00000031845
Domain | Start | End | E-Value | Type |
Pfam:RPE65
|
5 |
519 |
9e-114 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000167370
|
SMART Domains |
Protein: ENSMUSP00000132042 Gene: ENSMUSG00000031845
Domain | Start | End | E-Value | Type |
Pfam:RPE65
|
2 |
472 |
4.9e-117 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000176860
|
SMART Domains |
Protein: ENSMUSP00000134815 Gene: ENSMUSG00000031845
Domain | Start | End | E-Value | Type |
Pfam:RPE65
|
2 |
472 |
4.9e-117 |
PFAM |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
Validation Efficiency |
98% (52/53) |
MGI Phenotype |
FUNCTION: Vitamin A metabolism is important for vital processes such as vision, embryonic development, cell differentiation, and membrane and skin protection. The protein encoded by this gene is a key enzyme in beta-carotene metabolism to vitamin A. It catalyzes the oxidative cleavage of beta,beta-carotene into two retinal molecules. Two alternatively spliced variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2009] PHENOTYPE: Mice homozygous for a null mutation display fatty livers, elevated serum free fatty acid levels, increased susceptibility to diet-induced obesity, and impaired conversion of beta-carotene to vitamin A. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abi1 |
T |
C |
2: 22,884,660 (GRCm39) |
T54A |
probably damaging |
Het |
Ablim1 |
T |
C |
19: 57,143,693 (GRCm39) |
R89G |
probably damaging |
Het |
Bhmt |
A |
T |
13: 93,761,393 (GRCm39) |
M185K |
possibly damaging |
Het |
Camk2d |
T |
C |
3: 126,478,390 (GRCm39) |
|
probably benign |
Het |
Cmtm1 |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
8: 105,036,102 (GRCm39) |
|
probably benign |
Het |
Dcaf6 |
A |
G |
1: 165,251,915 (GRCm39) |
S70P |
probably benign |
Het |
Dclre1a |
C |
T |
19: 56,533,164 (GRCm39) |
V477I |
possibly damaging |
Het |
Dnah10 |
C |
T |
5: 124,905,201 (GRCm39) |
P4021L |
probably damaging |
Het |
Dusp10 |
A |
G |
1: 183,769,204 (GRCm39) |
N57D |
possibly damaging |
Het |
Fam13b |
G |
A |
18: 34,595,243 (GRCm39) |
R374C |
probably benign |
Het |
Fyb2 |
G |
A |
4: 104,872,876 (GRCm39) |
D686N |
probably damaging |
Het |
Glra3 |
G |
A |
8: 56,444,242 (GRCm39) |
M67I |
possibly damaging |
Het |
Gm14325 |
G |
A |
2: 177,474,777 (GRCm39) |
H102Y |
possibly damaging |
Het |
Gm6180 |
A |
G |
8: 42,700,177 (GRCm39) |
|
noncoding transcript |
Het |
Grin2c |
A |
G |
11: 115,144,639 (GRCm39) |
V629A |
probably damaging |
Het |
Kif4-ps |
A |
T |
12: 101,112,186 (GRCm39) |
|
noncoding transcript |
Het |
Mc3r |
T |
C |
2: 172,091,707 (GRCm39) |
F310L |
probably damaging |
Het |
Myh4 |
A |
G |
11: 67,143,180 (GRCm39) |
D1036G |
probably damaging |
Het |
Myh6 |
A |
G |
14: 55,194,019 (GRCm39) |
I790T |
probably benign |
Het |
Myo15a |
C |
A |
11: 60,367,940 (GRCm39) |
Y233* |
probably null |
Het |
Nckap5 |
A |
T |
1: 125,954,277 (GRCm39) |
C758* |
probably null |
Het |
Neurog3 |
T |
A |
10: 61,969,632 (GRCm39) |
Y36N |
probably damaging |
Het |
Nlrp4e |
T |
C |
7: 23,020,863 (GRCm39) |
L450P |
probably benign |
Het |
Or52d13 |
A |
T |
7: 103,110,148 (GRCm39) |
L84H |
probably damaging |
Het |
Otog |
A |
G |
7: 45,896,045 (GRCm39) |
E170G |
possibly damaging |
Het |
Ppp2r2b |
G |
T |
18: 42,874,207 (GRCm39) |
T41K |
probably damaging |
Het |
Prmt5 |
A |
T |
14: 54,747,399 (GRCm39) |
D459E |
probably benign |
Het |
Ric8b |
G |
A |
10: 84,783,516 (GRCm39) |
V125M |
probably damaging |
Het |
Rptor |
A |
G |
11: 119,713,782 (GRCm39) |
S4G |
probably damaging |
Het |
Rslcan18 |
T |
G |
13: 67,246,498 (GRCm39) |
E371D |
probably benign |
Het |
Scaf11 |
A |
T |
15: 96,317,107 (GRCm39) |
F819Y |
probably damaging |
Het |
Sema6a |
A |
T |
18: 47,409,611 (GRCm39) |
|
probably benign |
Het |
Snx29 |
C |
T |
16: 11,217,688 (GRCm39) |
T163I |
possibly damaging |
Het |
Sphkap |
T |
C |
1: 83,253,885 (GRCm39) |
N1288S |
probably benign |
Het |
Tmbim7 |
G |
A |
5: 3,723,192 (GRCm39) |
|
probably null |
Het |
Tmem63c |
T |
A |
12: 87,104,531 (GRCm39) |
|
probably null |
Het |
Tmem69 |
A |
G |
4: 116,410,458 (GRCm39) |
F171L |
probably benign |
Het |
Urod |
A |
T |
4: 116,847,482 (GRCm39) |
|
probably benign |
Het |
Vmn1r37 |
A |
T |
6: 66,708,460 (GRCm39) |
I29L |
probably benign |
Het |
Vmn2r102 |
A |
G |
17: 19,914,393 (GRCm39) |
T653A |
possibly damaging |
Het |
Vmn2r75 |
A |
C |
7: 85,815,500 (GRCm39) |
S121R |
probably benign |
Het |
Vwde |
T |
C |
6: 13,186,995 (GRCm39) |
T831A |
probably benign |
Het |
Wdr70 |
C |
T |
15: 8,006,465 (GRCm39) |
W362* |
probably null |
Het |
Zfat |
A |
G |
15: 68,037,758 (GRCm39) |
C906R |
probably damaging |
Het |
Zfp7 |
T |
C |
15: 76,765,403 (GRCm39) |
V32A |
probably damaging |
Het |
|
Other mutations in Bco1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00886:Bco1
|
APN |
8 |
117,857,376 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01934:Bco1
|
APN |
8 |
117,822,784 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL02182:Bco1
|
APN |
8 |
117,859,805 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02375:Bco1
|
APN |
8 |
117,840,178 (GRCm39) |
missense |
probably benign |
0.13 |
IGL02705:Bco1
|
APN |
8 |
117,844,242 (GRCm39) |
missense |
possibly damaging |
0.95 |
H8562:Bco1
|
UTSW |
8 |
117,832,386 (GRCm39) |
splice site |
probably benign |
|
R0453:Bco1
|
UTSW |
8 |
117,835,516 (GRCm39) |
missense |
possibly damaging |
0.55 |
R0652:Bco1
|
UTSW |
8 |
117,832,435 (GRCm39) |
missense |
probably damaging |
1.00 |
R1619:Bco1
|
UTSW |
8 |
117,835,454 (GRCm39) |
missense |
probably damaging |
1.00 |
R1772:Bco1
|
UTSW |
8 |
117,857,347 (GRCm39) |
missense |
probably benign |
0.03 |
R1827:Bco1
|
UTSW |
8 |
117,832,498 (GRCm39) |
missense |
probably damaging |
1.00 |
R1834:Bco1
|
UTSW |
8 |
117,844,176 (GRCm39) |
missense |
probably benign |
0.01 |
R2261:Bco1
|
UTSW |
8 |
117,859,764 (GRCm39) |
missense |
probably damaging |
1.00 |
R2262:Bco1
|
UTSW |
8 |
117,859,764 (GRCm39) |
missense |
probably damaging |
1.00 |
R2273:Bco1
|
UTSW |
8 |
117,835,522 (GRCm39) |
critical splice donor site |
probably null |
|
R2274:Bco1
|
UTSW |
8 |
117,835,522 (GRCm39) |
critical splice donor site |
probably null |
|
R3037:Bco1
|
UTSW |
8 |
117,854,278 (GRCm39) |
missense |
probably benign |
0.00 |
R3792:Bco1
|
UTSW |
8 |
117,857,415 (GRCm39) |
missense |
possibly damaging |
0.95 |
R3926:Bco1
|
UTSW |
8 |
117,854,211 (GRCm39) |
missense |
probably benign |
|
R4193:Bco1
|
UTSW |
8 |
117,840,208 (GRCm39) |
missense |
probably damaging |
1.00 |
R4661:Bco1
|
UTSW |
8 |
117,855,980 (GRCm39) |
missense |
probably benign |
0.00 |
R4968:Bco1
|
UTSW |
8 |
117,857,833 (GRCm39) |
missense |
probably benign |
0.00 |
R5523:Bco1
|
UTSW |
8 |
117,835,432 (GRCm39) |
missense |
possibly damaging |
0.67 |
R6006:Bco1
|
UTSW |
8 |
117,840,330 (GRCm39) |
splice site |
probably null |
|
R6174:Bco1
|
UTSW |
8 |
117,840,273 (GRCm39) |
missense |
probably damaging |
0.97 |
R6458:Bco1
|
UTSW |
8 |
117,854,245 (GRCm39) |
missense |
possibly damaging |
0.50 |
R6815:Bco1
|
UTSW |
8 |
117,840,261 (GRCm39) |
missense |
probably benign |
0.00 |
R7731:Bco1
|
UTSW |
8 |
117,857,807 (GRCm39) |
missense |
possibly damaging |
0.73 |
R7779:Bco1
|
UTSW |
8 |
117,844,135 (GRCm39) |
missense |
probably damaging |
0.99 |
R8087:Bco1
|
UTSW |
8 |
117,835,501 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8940:Bco1
|
UTSW |
8 |
117,857,347 (GRCm39) |
missense |
probably benign |
0.00 |
R9083:Bco1
|
UTSW |
8 |
117,844,143 (GRCm39) |
missense |
probably benign |
0.00 |
R9094:Bco1
|
UTSW |
8 |
117,859,917 (GRCm39) |
missense |
probably benign |
0.10 |
R9381:Bco1
|
UTSW |
8 |
117,837,631 (GRCm39) |
missense |
probably benign |
0.07 |
|
Predicted Primers |
PCR Primer
(F):5'- CAACGTATCACCTGCTTTATGC -3'
(R):5'- TCAGGTTGGCCAGGTAGAAG -3'
Sequencing Primer
(F):5'- GTGGCTCACAACCATCTATAATGGG -3'
(R):5'- AGAGCTGATAGAGGCTGCTGTC -3'
|
Posted On |
2016-07-22 |