Incidental Mutation 'R6458:Bco1'
| ID |
517439 |
| 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 |
044593-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.123)
|
| Stock # |
R6458 (G1)
|
| Quality Score |
221.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
117822593-117860459 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 117854245 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 390
(D390G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134815
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034308]
[ENSMUST00000167370]
[ENSMUST00000176860]
|
| AlphaFold |
Q9JJS6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034308
AA Change: D390G
PolyPhen 2
Score 0.499 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000034308
Gene: ENSMUSG00000031845
AA Change: D390G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RPE65
|
5 |
519 |
9e-114 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000167370
AA Change: D390G
PolyPhen 2
Score 0.499 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000132042
Gene: ENSMUSG00000031845
AA Change: D390G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RPE65
|
2 |
472 |
4.9e-117 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000176860
AA Change: D390G
PolyPhen 2
Score 0.499 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000134815
Gene: ENSMUSG00000031845
AA Change: D390G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RPE65
|
2 |
472 |
4.9e-117 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176943
|
| Meta Mutation Damage Score |
0.1220 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 97.8%
- 20x: 92.3%
|
| Validation Efficiency |
100% (56/56) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot8 |
A |
G |
2: 164,646,655 (GRCm39) |
V28A |
possibly damaging |
Het |
| Ak1 |
T |
A |
2: 32,520,385 (GRCm39) |
M61K |
probably damaging |
Het |
| Akap12 |
T |
C |
10: 4,305,148 (GRCm39) |
S653P |
probably damaging |
Het |
| Anapc4 |
G |
A |
5: 53,021,895 (GRCm39) |
R659H |
possibly damaging |
Het |
| Arel1 |
T |
C |
12: 84,987,159 (GRCm39) |
N86D |
possibly damaging |
Het |
| Ccr1l1 |
A |
T |
9: 123,778,203 (GRCm39) |
D81E |
probably damaging |
Het |
| Chd1 |
A |
T |
17: 15,950,864 (GRCm39) |
N185I |
probably benign |
Het |
| Clca4b |
T |
G |
3: 144,617,088 (GRCm39) |
N854T |
possibly damaging |
Het |
| Col4a4 |
T |
C |
1: 82,433,546 (GRCm39) |
T1466A |
unknown |
Het |
| Cxcr4 |
T |
C |
1: 128,516,831 (GRCm39) |
I277V |
probably benign |
Het |
| Dgkq |
A |
G |
5: 108,802,242 (GRCm39) |
V441A |
possibly damaging |
Het |
| Dnah10 |
G |
T |
5: 124,886,333 (GRCm39) |
L3030F |
probably damaging |
Het |
| Epg5 |
T |
A |
18: 77,991,469 (GRCm39) |
D55E |
probably benign |
Het |
| Ermap |
A |
T |
4: 119,035,337 (GRCm39) |
N550K |
probably damaging |
Het |
| Fnbp1l |
A |
T |
3: 122,350,089 (GRCm39) |
I374N |
probably damaging |
Het |
| Gadl1 |
T |
A |
9: 115,870,070 (GRCm39) |
*479K |
probably null |
Het |
| Gm5591 |
T |
A |
7: 38,218,459 (GRCm39) |
T805S |
probably damaging |
Het |
| H2-T3 |
A |
T |
17: 36,497,911 (GRCm39) |
M334K |
possibly damaging |
Het |
| Ihh |
C |
T |
1: 74,985,601 (GRCm39) |
A295T |
probably damaging |
Het |
| Il18r1 |
T |
A |
1: 40,530,342 (GRCm39) |
Y356* |
probably null |
Het |
| Lingo3 |
A |
G |
10: 80,671,150 (GRCm39) |
V260A |
probably damaging |
Het |
| Lrp2 |
T |
G |
2: 69,335,500 (GRCm39) |
M1408L |
probably benign |
Het |
| Mical1 |
C |
A |
10: 41,360,731 (GRCm39) |
H657N |
probably benign |
Het |
| Mpp2 |
T |
A |
11: 101,971,595 (GRCm39) |
M12L |
probably benign |
Het |
| Muc16 |
A |
T |
9: 18,553,017 (GRCm39) |
D4425E |
probably benign |
Het |
| Muc4 |
T |
A |
16: 32,579,694 (GRCm39) |
|
probably null |
Het |
| Myt1l |
T |
A |
12: 29,945,298 (GRCm39) |
F1021Y |
unknown |
Het |
| Nbas |
T |
C |
12: 13,338,750 (GRCm39) |
S197P |
probably damaging |
Het |
| Nckap1 |
T |
C |
2: 80,342,893 (GRCm39) |
|
probably null |
Het |
| Nek1 |
T |
G |
8: 61,553,046 (GRCm39) |
V903G |
probably benign |
Het |
| Or14c43 |
A |
G |
7: 86,114,888 (GRCm39) |
I90V |
probably damaging |
Het |
| Or1e18-ps1 |
T |
G |
11: 73,279,517 (GRCm39) |
S112R |
probably damaging |
Het |
| Or4p22 |
T |
A |
2: 88,317,562 (GRCm39) |
I162N |
possibly damaging |
Het |
| Or8b40 |
T |
C |
9: 38,027,350 (GRCm39) |
V91A |
possibly damaging |
Het |
| Ppm1j |
T |
C |
3: 104,688,560 (GRCm39) |
V53A |
probably benign |
Het |
| Ralgapb |
T |
A |
2: 158,286,540 (GRCm39) |
D328E |
probably damaging |
Het |
| Rgma |
T |
A |
7: 73,059,442 (GRCm39) |
V88E |
probably damaging |
Het |
| Slc30a6 |
A |
G |
17: 74,730,108 (GRCm39) |
T333A |
probably damaging |
Het |
| Spr |
T |
C |
6: 85,114,039 (GRCm39) |
|
probably null |
Het |
| Srek1 |
A |
T |
13: 103,880,076 (GRCm39) |
V494E |
probably benign |
Het |
| Ston1 |
A |
T |
17: 88,942,731 (GRCm39) |
T46S |
probably benign |
Het |
| Stox2 |
T |
C |
8: 47,645,079 (GRCm39) |
K858E |
possibly damaging |
Het |
| Thoc1 |
G |
A |
18: 9,993,333 (GRCm39) |
R564Q |
probably benign |
Het |
| Thoc2l |
A |
T |
5: 104,670,169 (GRCm39) |
I1564L |
probably benign |
Het |
| Tmc5 |
T |
A |
7: 118,244,539 (GRCm39) |
N472K |
probably damaging |
Het |
| Ttc41 |
A |
G |
10: 86,594,134 (GRCm39) |
T856A |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,608,854 (GRCm39) |
W17721R |
probably damaging |
Het |
| Vmn1r69 |
A |
G |
7: 10,314,365 (GRCm39) |
I43T |
probably benign |
Het |
| Vmn2r56 |
T |
A |
7: 12,427,984 (GRCm39) |
I761F |
probably damaging |
Het |
| Zfp109 |
T |
C |
7: 23,927,870 (GRCm39) |
D521G |
probably benign |
Het |
| Zfp516 |
A |
G |
18: 83,005,475 (GRCm39) |
H793R |
probably benign |
Het |
| Zfp800 |
A |
T |
6: 28,244,215 (GRCm39) |
I250N |
probably damaging |
Het |
| Zpbp |
T |
A |
11: 11,358,538 (GRCm39) |
Y243F |
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 |
|
R5277:Bco1
|
UTSW |
8 |
117,844,128 (GRCm39) |
splice site |
probably null |
|
|
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 |
|
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'- AGCTGCTTCCTGTGGTTACC -3'
(R):5'- TCTATCCAAGGACCAGAAATGTTGG -3'
Sequencing Primer
(F):5'- CTTCCTGTGGTTACCGCGAG -3'
(R):5'- TGGAAGCTATTTTTAAAAGATCCCC -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation