Incidental Mutation 'IGL02705:Bco1'
ID304311
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 #IGL02705
Quality Score
Status
Chromosome8
Chromosomal Location117095854-117133720 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 117117503 bp
ZygosityHeterozygous
Amino Acid Change Valine to Methionine at position 319 (V319M)
Ref Sequence ENSEMBL: ENSMUSP00000134815 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034308] [ENSMUST00000167370] [ENSMUST00000176860]
Predicted Effect possibly damaging
Transcript: ENSMUST00000034308
AA Change: V319M

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000034308
Gene: ENSMUSG00000031845
AA Change: V319M

DomainStartEndE-ValueType
Pfam:RPE65 5 519 9e-114 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000167370
AA Change: V319M

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000132042
Gene: ENSMUSG00000031845
AA Change: V319M

DomainStartEndE-ValueType
Pfam:RPE65 2 472 4.9e-117 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000176860
AA Change: V319M

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000134815
Gene: ENSMUSG00000031845
AA Change: V319M

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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700025G04Rik A G 1: 151,915,513 F99S probably damaging Het
Ankrd17 G A 5: 90,283,115 P937S probably benign Het
Apom T G 17: 35,130,495 probably null Het
Baz2b A G 2: 59,948,260 I752T possibly damaging Het
Bcat1 T C 6: 145,019,188 probably benign Het
Bcl9 A G 3: 97,204,865 F1425L possibly damaging Het
Dmwd C A 7: 19,080,844 T473K probably benign Het
Fam71a T C 1: 191,164,302 Y48C probably damaging Het
Gata2 C T 6: 88,205,364 A438V possibly damaging Het
Gm13084 A G 4: 143,810,802 S320P probably damaging Het
Ifnz A G 4: 88,783,337 probably benign Het
Myh14 T C 7: 44,608,536 I1859V possibly damaging Het
Ndn A G 7: 62,349,108 D234G probably damaging Het
Nfe2l3 T C 6: 51,433,118 L71P probably damaging Het
Nfia T G 4: 97,783,368 L105R probably damaging Het
Npy2r T A 3: 82,540,749 T127S probably benign Het
Olfr570 T C 7: 102,901,242 Y292H probably damaging Het
Olfr834 T A 9: 18,988,400 N137K probably benign Het
Ppip5k2 A T 1: 97,759,199 C94S probably damaging Het
Slc1a6 T C 10: 78,801,954 V438A probably damaging Het
Slc6a7 C T 18: 61,009,428 G71R probably damaging Het
Styk1 C T 6: 131,312,583 V23I probably benign Het
Tmprss5 C A 9: 49,107,147 N92K probably benign Het
Trpm6 T G 19: 18,776,733 probably null Het
Ttn C T 2: 76,846,770 probably benign Het
Vmn2r109 G A 17: 20,553,800 A431V probably benign Het
Wdr17 C T 8: 54,648,215 probably null Het
Zcchc6 A G 13: 59,789,203 F808S probably damaging Het
Zfp407 G T 18: 84,559,031 S1319* probably null 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
IGL02182:Bco1 APN 8 117133066 missense probably damaging 1.00
IGL02375:Bco1 APN 8 117113439 missense probably benign 0.13
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