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) question?
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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