Incidental Mutation 'IGL01934:Bco1'
ID |
180566 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Bco1
|
Ensembl Gene |
ENSMUSG00000031845 |
Gene Name |
beta-carotene oxygenase 1 |
Synonyms |
Bcdo, Cmoi, Bcdo1, Bcmo1, beta-CD, betaCMOOX |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.135)
|
Stock # |
IGL01934
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
117822593-117860459 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 117822784 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 5
(F5L)
|
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: F5L
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000034308 Gene: ENSMUSG00000031845 AA Change: F5L
Domain | Start | End | E-Value | Type |
Pfam:RPE65
|
5 |
519 |
9e-114 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000167370
AA Change: F5L
PolyPhen 2
Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000132042 Gene: ENSMUSG00000031845 AA Change: F5L
Domain | Start | End | E-Value | Type |
Pfam:RPE65
|
2 |
472 |
4.9e-117 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000176860
AA Change: F5L
PolyPhen 2
Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000134815 Gene: ENSMUSG00000031845 AA Change: F5L
Domain | Start | End | E-Value | Type |
Pfam:RPE65
|
2 |
472 |
4.9e-117 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931414P19Rik |
T |
C |
14: 54,823,112 (GRCm39) |
K362E |
probably damaging |
Het |
4932438H23Rik |
T |
A |
16: 90,852,753 (GRCm39) |
T128S |
probably damaging |
Het |
Aars1 |
T |
A |
8: 111,774,650 (GRCm39) |
I593N |
probably damaging |
Het |
Abca6 |
A |
T |
11: 110,079,481 (GRCm39) |
N1224K |
probably benign |
Het |
Abcc5 |
A |
T |
16: 20,241,191 (GRCm39) |
|
probably benign |
Het |
Adam7 |
A |
G |
14: 68,770,048 (GRCm39) |
L35P |
probably damaging |
Het |
Ahnak |
T |
A |
19: 8,980,021 (GRCm39) |
L435Q |
probably damaging |
Het |
Ankef1 |
A |
G |
2: 136,394,451 (GRCm39) |
E620G |
possibly damaging |
Het |
Aoc1l3 |
A |
T |
6: 48,965,695 (GRCm39) |
I568F |
probably damaging |
Het |
Ap3d1 |
A |
T |
10: 80,545,092 (GRCm39) |
L1082* |
probably null |
Het |
Atp6v0a4 |
T |
A |
6: 38,028,481 (GRCm39) |
I712F |
possibly damaging |
Het |
Cacna2d4 |
A |
T |
6: 119,285,729 (GRCm39) |
S794C |
probably damaging |
Het |
Camk2d |
T |
C |
3: 126,628,304 (GRCm39) |
|
probably null |
Het |
Capn15 |
T |
C |
17: 26,181,998 (GRCm39) |
T604A |
probably damaging |
Het |
Cd180 |
A |
T |
13: 102,839,366 (GRCm39) |
D83V |
probably damaging |
Het |
Ces1a |
C |
A |
8: 93,759,278 (GRCm39) |
R286L |
probably damaging |
Het |
Col6a6 |
A |
G |
9: 105,575,858 (GRCm39) |
|
probably null |
Het |
Crnkl1 |
A |
G |
2: 145,773,202 (GRCm39) |
V148A |
probably benign |
Het |
Epas1 |
A |
T |
17: 87,131,157 (GRCm39) |
K312N |
probably damaging |
Het |
Fbxw2 |
T |
C |
2: 34,712,618 (GRCm39) |
S148G |
probably damaging |
Het |
Fig4 |
T |
C |
10: 41,104,108 (GRCm39) |
T791A |
probably benign |
Het |
Galnt9 |
A |
T |
5: 110,750,502 (GRCm39) |
I340F |
possibly damaging |
Het |
Gfap |
G |
A |
11: 102,785,286 (GRCm39) |
A230V |
probably damaging |
Het |
Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
Gm454 |
T |
C |
5: 138,205,424 (GRCm39) |
|
noncoding transcript |
Het |
Il24 |
A |
T |
1: 130,811,614 (GRCm39) |
L115Q |
probably damaging |
Het |
Ipp |
C |
A |
4: 116,367,852 (GRCm39) |
N28K |
probably damaging |
Het |
Kalrn |
A |
T |
16: 34,018,882 (GRCm39) |
|
probably null |
Het |
Klf10 |
C |
T |
15: 38,297,528 (GRCm39) |
V171M |
probably benign |
Het |
Man1b1 |
T |
C |
2: 25,235,523 (GRCm39) |
S350P |
probably benign |
Het |
Mfsd4a |
T |
C |
1: 131,974,049 (GRCm39) |
Y343C |
probably damaging |
Het |
Mrpl58 |
C |
A |
11: 115,301,555 (GRCm39) |
|
probably benign |
Het |
Myo7b |
A |
G |
18: 32,134,394 (GRCm39) |
|
probably null |
Het |
Nbas |
T |
C |
12: 13,339,880 (GRCm39) |
|
probably benign |
Het |
Nisch |
A |
G |
14: 30,898,696 (GRCm39) |
|
probably benign |
Het |
Or1o2 |
A |
T |
17: 37,542,439 (GRCm39) |
V274D |
probably damaging |
Het |
Or52z14 |
T |
C |
7: 103,253,182 (GRCm39) |
F107S |
probably damaging |
Het |
Or5p69 |
A |
G |
7: 107,967,368 (GRCm39) |
I224V |
probably damaging |
Het |
Parva |
T |
A |
7: 112,187,760 (GRCm39) |
C352* |
probably null |
Het |
Ptf1a |
T |
A |
2: 19,451,431 (GRCm39) |
C254S |
possibly damaging |
Het |
R3hdm1 |
G |
T |
1: 128,164,272 (GRCm39) |
R1062L |
probably benign |
Het |
Rnf44 |
A |
G |
13: 54,829,763 (GRCm39) |
V407A |
probably damaging |
Het |
Shank3 |
T |
C |
15: 89,434,049 (GRCm39) |
L1598P |
probably damaging |
Het |
Slit2 |
T |
C |
5: 48,395,747 (GRCm39) |
S717P |
possibly damaging |
Het |
Tdpoz4 |
A |
G |
3: 93,704,779 (GRCm39) |
K359E |
probably damaging |
Het |
Tmtc4 |
A |
T |
14: 123,165,047 (GRCm39) |
L604* |
probably null |
Het |
Tnfrsf21 |
A |
T |
17: 43,376,078 (GRCm39) |
N488I |
probably benign |
Het |
Tnfsf8 |
A |
G |
4: 63,752,747 (GRCm39) |
|
probably benign |
Het |
Tnpo3 |
A |
T |
6: 29,575,019 (GRCm39) |
L382M |
probably benign |
Het |
Tut1 |
T |
C |
19: 8,931,355 (GRCm39) |
C18R |
probably damaging |
Het |
Ugt8a |
A |
G |
3: 125,708,424 (GRCm39) |
S229P |
probably benign |
Het |
Usp22 |
T |
C |
11: 61,046,114 (GRCm39) |
E476G |
probably damaging |
Het |
Vill |
G |
T |
9: 118,895,877 (GRCm39) |
A146S |
probably damaging |
Het |
Vmn1r178 |
T |
C |
7: 23,593,362 (GRCm39) |
Y137H |
probably damaging |
Het |
Wdfy1 |
A |
T |
1: 79,717,833 (GRCm39) |
W51R |
probably damaging |
Het |
Zc3hav1 |
A |
T |
6: 38,296,768 (GRCm39) |
|
probably null |
Het |
Zfp236 |
A |
T |
18: 82,651,245 (GRCm39) |
V889E |
probably damaging |
Het |
Zscan20 |
T |
C |
4: 128,486,277 (GRCm39) |
D141G |
possibly 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 |
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 |
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 |
|
Posted On |
2014-05-07 |