Incidental Mutation 'R6815:Bco1'
ID 537284
Institutional Source Beutler Lab
Gene Symbol Bco1
Ensembl Gene ENSMUSG00000031845
Gene Name beta-carotene oxygenase 1
Synonyms Bcdo, Cmoi, Bcdo1, Bcmo1, beta-CD, betaCMOOX
MMRRC Submission 044927-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.135) question?
Stock # R6815 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 117822593-117860459 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 117840261 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 260 (M260L)
Ref Sequence ENSEMBL: ENSMUSP00000134815 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034308] [ENSMUST00000167370] [ENSMUST00000176860]
AlphaFold Q9JJS6
Predicted Effect probably benign
Transcript: ENSMUST00000034308
AA Change: M260L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000034308
Gene: ENSMUSG00000031845
AA Change: M260L

DomainStartEndE-ValueType
Pfam:RPE65 5 519 9e-114 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000167370
AA Change: M260L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000132042
Gene: ENSMUSG00000031845
AA Change: M260L

DomainStartEndE-ValueType
Pfam:RPE65 2 472 4.9e-117 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000176860
AA Change: M260L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000134815
Gene: ENSMUSG00000031845
AA Change: M260L

DomainStartEndE-ValueType
Pfam:RPE65 2 472 4.9e-117 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931414P19Rik T G 14: 54,828,610 (GRCm39) N297T probably damaging Het
6820408C15Rik A G 2: 152,282,975 (GRCm39) N251S probably benign Het
Abcc5 T C 16: 20,152,380 (GRCm39) T1389A probably damaging Het
Acad11 A G 9: 103,958,526 (GRCm39) T265A probably benign Het
Ace3 C T 11: 105,888,084 (GRCm39) Q302* probably null Het
Aip A T 19: 4,166,066 (GRCm39) H128Q probably benign Het
Akr1b7 A T 6: 34,389,269 (GRCm39) probably null Het
Arid4a T A 12: 71,063,856 (GRCm39) probably null Het
Armh1 T A 4: 117,087,134 (GRCm39) H177L probably damaging Het
Aspm A G 1: 139,407,880 (GRCm39) T2256A probably benign Het
Ccdc110 A G 8: 46,395,024 (GRCm39) N305S probably benign Het
Ccdc158 T A 5: 92,760,345 (GRCm39) Y1035F probably damaging Het
Cd180 C T 13: 102,841,937 (GRCm39) L328F probably damaging Het
Cntrl T C 2: 35,039,503 (GRCm39) L1121P probably damaging Het
Cyp2u1 A C 3: 131,091,659 (GRCm39) I287S probably damaging Het
Dnah3 C T 7: 119,570,950 (GRCm39) M2195I probably benign Het
Dnajc21 C T 15: 10,447,777 (GRCm39) probably null Het
Dock10 C T 1: 80,516,576 (GRCm39) V1398M possibly damaging Het
Dpy19l3 T A 7: 35,449,272 (GRCm39) I44F possibly damaging Het
Dst C A 1: 34,267,450 (GRCm39) T4964K possibly damaging Het
Ercc4 T C 16: 12,941,299 (GRCm39) I139T probably damaging Het
Gpr4 T A 7: 18,956,560 (GRCm39) F161I probably damaging Het
Gucy2e A C 11: 69,122,827 (GRCm39) L516R possibly damaging Het
Hdhd5 A G 6: 120,498,170 (GRCm39) V143A probably benign Het
Heatr4 T A 12: 84,026,501 (GRCm39) Q252L probably damaging Het
Heatr5a T G 12: 52,002,291 (GRCm39) D215A possibly damaging Het
Hipk2 G T 6: 38,795,777 (GRCm39) A164D probably damaging Het
Igsf11 A G 16: 38,829,243 (GRCm39) I46V probably benign Het
Iqgap1 C T 7: 80,416,632 (GRCm39) probably null Het
Lrig1 A G 6: 94,602,010 (GRCm39) L281P probably damaging Het
Or10p22 A G 10: 128,826,191 (GRCm39) S137G probably benign Het
Or7g32 G T 9: 19,389,061 (GRCm39) H159N probably benign Het
Pcdha7 A G 18: 37,108,174 (GRCm39) T400A probably damaging Het
Pde5a A G 3: 122,618,573 (GRCm39) T629A probably benign Het
Pkhd1l1 A G 15: 44,426,051 (GRCm39) D3204G probably damaging Het
Prkd2 T C 7: 16,577,718 (GRCm39) F57S probably benign Het
Prr15l T C 11: 96,825,433 (GRCm39) V21A probably damaging Het
Rag2 T A 2: 101,460,900 (GRCm39) N403K probably damaging Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Het
Rtl1 C A 12: 109,560,937 (GRCm39) D301Y probably damaging Het
Septin14 T C 5: 129,770,051 (GRCm39) N215S probably benign Het
Sin3a T A 9: 57,024,824 (GRCm39) D1061E probably benign Het
Skint5 T A 4: 113,574,324 (GRCm39) probably null Het
Stox2 A T 8: 47,646,136 (GRCm39) D441E probably damaging Het
Tmem52b G A 6: 129,493,705 (GRCm39) probably null Het
Tpm3-rs7 A G 14: 113,552,292 (GRCm39) E62G probably benign Het
Trim54 G T 5: 31,291,424 (GRCm39) V182L probably damaging Het
Trmt6 A C 2: 132,651,778 (GRCm39) V214G probably damaging Het
Ttc21b T C 2: 66,057,134 (GRCm39) S613G probably benign Het
Ttll4 C A 1: 74,718,508 (GRCm39) R120S possibly damaging Het
Wdr41 A T 13: 95,154,682 (GRCm39) K354N probably damaging Het
Zfp652 A T 11: 95,640,230 (GRCm39) K52* probably null 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
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
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
Predicted Primers PCR Primer
(F):5'- AGGCTGTGGCTGATAGTATTATCC -3'
(R):5'- TCTCTAGAAGGTGGCAGCTG -3'

Sequencing Primer
(F):5'- AGTATTATCCGGCTAGATTTCCACG -3'
(R):5'- GCCTGCAACGCGGCTAC -3'
Posted On 2018-10-18