Incidental Mutation 'IGL02182:Bco1'
ID 283286
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 # IGL02182
Quality Score
Status
Chromosome 8
Chromosomal Location 117822593-117860459 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 117859805 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 503 (A503T)
Ref Sequence ENSEMBL: ENSMUSP00000034308 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034308] [ENSMUST00000167370] [ENSMUST00000176860]
AlphaFold Q9JJS6
Predicted Effect probably damaging
Transcript: ENSMUST00000034308
AA Change: A503T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000034308
Gene: ENSMUSG00000031845
AA Change: A503T

DomainStartEndE-ValueType
Pfam:RPE65 5 519 9e-114 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000167370
SMART Domains Protein: ENSMUSP00000132042
Gene: ENSMUSG00000031845

DomainStartEndE-ValueType
Pfam:RPE65 2 472 4.9e-117 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000176860
SMART Domains Protein: ENSMUSP00000134815
Gene: ENSMUSG00000031845

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34 T A 8: 44,104,790 (GRCm39) N285I probably benign Het
Adprh T C 16: 38,267,838 (GRCm39) H149R probably benign Het
Ahctf1 A G 1: 179,580,643 (GRCm39) V1853A probably benign Het
Ank1 T C 8: 23,603,868 (GRCm39) V905A possibly damaging Het
Atp10b T G 11: 43,139,774 (GRCm39) L1234R probably damaging Het
Clxn T A 16: 14,738,659 (GRCm39) D163E probably damaging Het
Cpz T A 5: 35,675,066 (GRCm39) Y61F probably damaging Het
Dnah8 T A 17: 31,013,737 (GRCm39) M3826K possibly damaging Het
Dtd2 A G 12: 52,046,492 (GRCm39) S116P probably benign Het
Eml5 T C 12: 98,768,581 (GRCm39) D1498G probably damaging Het
Fat4 T C 3: 38,944,695 (GRCm39) V1196A probably damaging Het
Gm15557 T C 2: 155,783,737 (GRCm39) D405G probably damaging Het
Lpp C T 16: 24,580,895 (GRCm39) R204W probably damaging Het
Mfsd11 T A 11: 116,764,740 (GRCm39) V388E possibly damaging Het
Ms4a20 A T 19: 11,074,436 (GRCm39) probably benign Het
Or10a3m A G 7: 108,313,075 (GRCm39) T160A probably benign Het
Or52b4 A G 7: 102,184,775 (GRCm39) I274V probably benign Het
Pik3cg A T 12: 32,255,272 (GRCm39) D238E possibly damaging Het
Plcb3 T C 19: 6,946,988 (GRCm39) H9R probably benign Het
Ppp3cc A C 14: 70,462,473 (GRCm39) V388G probably benign Het
Ranbp2 T A 10: 58,321,582 (GRCm39) C2626* probably null Het
Resp18 T C 1: 75,250,615 (GRCm39) T155A probably benign Het
Ror2 C T 13: 53,264,764 (GRCm39) S764N probably damaging Het
Scarb2 C T 5: 92,601,913 (GRCm39) S327N probably damaging Het
Secisbp2l T A 2: 125,589,497 (GRCm39) I684F probably damaging Het
Slc39a6 T C 18: 24,734,347 (GRCm39) D114G probably damaging Het
Smap1 T A 1: 23,898,180 (GRCm39) E85D probably damaging Het
Tas2r121 T A 6: 132,677,133 (GRCm39) I280F probably damaging Het
Uhrf2 T C 19: 30,016,609 (GRCm39) V86A probably benign Het
Vip A T 10: 5,593,561 (GRCm39) Y91F probably benign Het
Zfp318 C T 17: 46,707,736 (GRCm39) R265* probably null Het
Zfp618 G A 4: 63,013,798 (GRCm39) probably benign Het
Other mutations in Bco1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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 2015-04-16