Incidental Mutation 'IGL02182:Bco1'
ID283286
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bco1
Ensembl Gene ENSMUSG00000031845
Gene Namebeta-carotene oxygenase 1
SynonymsBcdo1, betaCMOOX, Bcmo1, Bcdo, beta-CD, Cmoi
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.136) question?
Stock #IGL02182
Quality Score
Status
Chromosome8
Chromosomal Location117095854-117133720 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 117133066 bp
ZygosityHeterozygous
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]
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
1700017D01Rik A T 19: 11,097,072 probably benign Het
Adam34 T A 8: 43,651,753 N285I probably benign Het
Adprh T C 16: 38,447,476 H149R probably benign Het
Ahctf1 A G 1: 179,753,078 V1853A probably benign Het
Ank1 T C 8: 23,113,852 V905A possibly damaging Het
Atp10b T G 11: 43,248,947 L1234R probably damaging Het
Cpz T A 5: 35,517,722 Y61F probably damaging Het
Dnah8 T A 17: 30,794,763 M3826K possibly damaging Het
Dtd2 A G 12: 51,999,709 S116P probably benign Het
Efcab1 T A 16: 14,920,795 D163E probably damaging Het
Eml5 T C 12: 98,802,322 D1498G probably damaging Het
Fat4 T C 3: 38,890,546 V1196A probably damaging Het
Gm15557 T C 2: 155,941,817 D405G probably damaging Het
Lpp C T 16: 24,762,145 R204W probably damaging Het
Mfsd11 T A 11: 116,873,914 V388E possibly damaging Het
Olfr512 A G 7: 108,713,868 T160A probably benign Het
Olfr547 A G 7: 102,535,568 I274V probably benign Het
Pik3cg A T 12: 32,205,273 D238E possibly damaging Het
Plcb3 T C 19: 6,969,620 H9R probably benign Het
Ppp3cc A C 14: 70,225,024 V388G probably benign Het
Ranbp2 T A 10: 58,485,760 C2626* probably null Het
Resp18 T C 1: 75,273,971 T155A probably benign Het
Ror2 C T 13: 53,110,728 S764N probably damaging Het
Scarb2 C T 5: 92,454,054 S327N probably damaging Het
Secisbp2l T A 2: 125,747,577 I684F probably damaging Het
Slc39a6 T C 18: 24,601,290 D114G probably damaging Het
Smap1 T A 1: 23,859,099 E85D probably damaging Het
Tas2r121 T A 6: 132,700,170 I280F probably damaging Het
Uhrf2 T C 19: 30,039,209 V86A probably benign Het
Vip A T 10: 5,643,561 Y91F probably benign Het
Zfp318 C T 17: 46,396,810 R265* probably null Het
Zfp618 G A 4: 63,095,561 probably benign Het
Other mutations in Bco1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00886:Bco1 APN 8 117130637 missense probably damaging 1.00
IGL01934:Bco1 APN 8 117096045 missense possibly damaging 0.90
IGL02375:Bco1 APN 8 117113439 missense probably benign 0.13
IGL02705:Bco1 APN 8 117117503 missense possibly damaging 0.95
H8562:Bco1 UTSW 8 117105647 splice site probably benign
R0453:Bco1 UTSW 8 117108777 missense possibly damaging 0.55
R0652:Bco1 UTSW 8 117105696 missense probably damaging 1.00
R1619:Bco1 UTSW 8 117108715 missense probably damaging 1.00
R1772:Bco1 UTSW 8 117130608 missense probably benign 0.03
R1827:Bco1 UTSW 8 117105759 missense probably damaging 1.00
R1834:Bco1 UTSW 8 117117437 missense probably benign 0.01
R2261:Bco1 UTSW 8 117133025 missense probably damaging 1.00
R2262:Bco1 UTSW 8 117133025 missense probably damaging 1.00
R2273:Bco1 UTSW 8 117108783 critical splice donor site probably null
R2274:Bco1 UTSW 8 117108783 critical splice donor site probably null
R3037:Bco1 UTSW 8 117127539 missense probably benign 0.00
R3792:Bco1 UTSW 8 117130676 missense possibly damaging 0.95
R3926:Bco1 UTSW 8 117127472 missense probably benign
R4193:Bco1 UTSW 8 117113469 missense probably damaging 1.00
R4661:Bco1 UTSW 8 117129241 missense probably benign 0.00
R4968:Bco1 UTSW 8 117131094 missense probably benign 0.00
R5277:Bco1 UTSW 8 117117389 splice site probably null
R5523:Bco1 UTSW 8 117108693 missense possibly damaging 0.67
R6006:Bco1 UTSW 8 117113591 splice site probably null
R6174:Bco1 UTSW 8 117113534 missense probably damaging 0.97
R6458:Bco1 UTSW 8 117127506 missense possibly damaging 0.50
R6815:Bco1 UTSW 8 117113522 missense probably benign 0.00
R7731:Bco1 UTSW 8 117131068 missense possibly damaging 0.73
R7779:Bco1 UTSW 8 117117396 missense probably damaging 0.99
R8087:Bco1 UTSW 8 117108762 missense possibly damaging 0.95
Posted On2015-04-16