Incidental Mutation 'R1619:Bco1'
ID 174527
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 039656-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.135) question?
Stock # R1619 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 117822593-117860459 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 117835454 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 135 (F135S)
Ref Sequence ENSEMBL: ENSMUSP00000134815 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034308] [ENSMUST00000167370] [ENSMUST00000176860]
AlphaFold Q9JJS6
Predicted Effect probably damaging
Transcript: ENSMUST00000034308
AA Change: F135S

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000034308
Gene: ENSMUSG00000031845
AA Change: F135S

DomainStartEndE-ValueType
Pfam:RPE65 5 519 9e-114 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000167370
AA Change: F135S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000132042
Gene: ENSMUSG00000031845
AA Change: F135S

DomainStartEndE-ValueType
Pfam:RPE65 2 472 4.9e-117 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000176860
AA Change: F135S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000134815
Gene: ENSMUSG00000031845
AA Change: F135S

DomainStartEndE-ValueType
Pfam:RPE65 2 472 4.9e-117 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.8%
  • 20x: 91.0%
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 A T 10: 79,844,889 (GRCm39) H1537L probably damaging Het
Actg2 T A 6: 83,500,169 (GRCm39) N116I probably damaging Het
Actn1 G A 12: 80,219,796 (GRCm39) H692Y probably damaging Het
Adamts6 C T 13: 104,449,285 (GRCm39) P36S probably benign Het
Agr3 G A 12: 35,997,858 (GRCm39) probably null Het
Ank3 T C 10: 69,715,805 (GRCm39) V500A probably damaging Het
BC051019 T A 7: 109,317,269 (GRCm39) D141V probably damaging Het
Cacna1c C T 6: 118,589,586 (GRCm39) R1446H probably damaging Het
Ccdc42 A G 11: 68,485,115 (GRCm39) K210E probably damaging Het
Cckar A T 5: 53,857,409 (GRCm39) W263R probably damaging Het
Cela2a A G 4: 141,553,252 (GRCm39) probably null Het
Cep97 A T 16: 55,748,159 (GRCm39) N90K probably damaging Het
Ces2g A T 8: 105,693,984 (GRCm39) Q440L probably damaging Het
Chchd6 G T 6: 89,396,736 (GRCm39) T225K possibly damaging Het
Chd1l C T 3: 97,490,047 (GRCm39) E503K probably benign Het
Chrna5 A G 9: 54,911,649 (GRCm39) T46A probably benign Het
Col16a1 G A 4: 129,992,733 (GRCm39) G1531S probably damaging Het
Col19a1 A T 1: 24,573,172 (GRCm39) V200E unknown Het
Csf2rb A G 15: 78,219,411 (GRCm39) D2G probably damaging Het
Csmd3 G A 15: 47,813,346 (GRCm39) S1062L probably damaging Het
Cul5 G T 9: 53,569,893 (GRCm39) Q113K probably benign Het
Dmwd TAGCCTGGGAA TAGCCTGGGAAGCCTGGGAA 7: 18,814,959 (GRCm39) probably benign Het
Dse T C 10: 34,029,230 (GRCm39) D620G probably damaging Het
Dsg1c A G 18: 20,397,899 (GRCm39) N33S probably benign Het
Epc2 G A 2: 49,439,990 (GRCm39) V803I probably damaging Het
Erap1 T A 13: 74,819,500 (GRCm39) H171Q probably damaging Het
Esrrb T C 12: 86,561,274 (GRCm39) V336A possibly damaging Het
Fech A T 18: 64,595,189 (GRCm39) W300R probably damaging Het
Fgd4 T C 16: 16,241,920 (GRCm39) I635V possibly damaging Het
Galc A T 12: 98,200,563 (GRCm39) N282K probably benign Het
Gpat2 A G 2: 127,270,637 (GRCm39) Y95C probably benign Het
Grm2 T A 9: 106,524,670 (GRCm39) I682F probably damaging Het
Hdac10 G T 15: 89,010,878 (GRCm39) A241D probably damaging Het
Helz T A 11: 107,527,105 (GRCm39) C182* probably null Het
Ift140 A G 17: 25,307,839 (GRCm39) Y978C probably damaging Het
Intu T A 3: 40,652,061 (GRCm39) C839* probably null Het
Jmjd1c T C 10: 67,055,654 (GRCm39) V358A probably benign Het
Kif26b A G 1: 178,744,043 (GRCm39) S1380G probably benign Het
Lrp1b A G 2: 40,587,601 (GRCm39) S116P unknown Het
Lrrc2 T A 9: 110,790,041 (GRCm39) S99R probably benign Het
Mrpl48 G A 7: 100,195,482 (GRCm39) probably benign Het
Mup9 A G 4: 60,377,878 (GRCm39) probably benign Het
Nap1l1 G A 10: 111,329,240 (GRCm39) V285I possibly damaging Het
Nepro A G 16: 44,547,391 (GRCm39) D36G probably benign Het
Nkain4 A G 2: 180,577,794 (GRCm39) F187L probably damaging Het
Nobox A T 6: 43,284,401 (GRCm39) C82S possibly damaging Het
Ntn4 C A 10: 93,480,596 (GRCm39) Q70K probably damaging Het
Or13j1 A G 4: 43,706,292 (GRCm39) I92T probably damaging Het
Or1e26 A T 11: 73,480,118 (GRCm39) W149R probably damaging Het
Or4k37 A G 2: 111,159,306 (GRCm39) I181V probably benign Het
Or51a43 T C 7: 103,717,738 (GRCm39) R167G probably damaging Het
Or5b122 T A 19: 13,562,978 (GRCm39) F103L probably benign Het
Or9r3 A G 10: 129,948,548 (GRCm39) I37T possibly damaging Het
Pappa A G 4: 65,094,466 (GRCm39) E497G probably damaging Het
Pard3 C A 8: 128,106,983 (GRCm39) T569K probably benign Het
Parp14 G A 16: 35,677,130 (GRCm39) A946V probably benign Het
Pcdh10 A G 3: 45,334,747 (GRCm39) N354D possibly damaging Het
Pdgfc T C 3: 81,082,194 (GRCm39) V129A probably benign Het
Pdia3 G A 2: 121,262,858 (GRCm39) G275S probably damaging Het
Phf20l1 A T 15: 66,487,108 (GRCm39) H407L possibly damaging Het
Phip A T 9: 82,753,502 (GRCm39) D1747E probably benign Het
Pkd1l1 A G 11: 8,900,413 (GRCm39) S43P probably damaging Het
Plekhg2 T C 7: 28,067,846 (GRCm39) E202G probably damaging Het
Rapsn A G 2: 90,873,504 (GRCm39) D270G possibly damaging Het
Rims2 A C 15: 39,370,382 (GRCm39) S939R probably damaging Het
Ripor3 T C 2: 167,822,765 (GRCm39) D932G probably damaging Het
Rtp2 A T 16: 23,749,421 (GRCm39) W30R probably damaging Het
Scgb2b27 A T 7: 33,711,557 (GRCm39) D97E probably benign Het
Slc25a46 T C 18: 31,716,542 (GRCm39) N320S probably benign Het
Slc9b1 A G 3: 135,060,765 (GRCm39) probably null Het
Socs4 T A 14: 47,527,740 (GRCm39) M225K possibly damaging Het
Spata31d1a A T 13: 59,850,247 (GRCm39) L627* probably null Het
Srcin1 A G 11: 97,416,307 (GRCm39) L975P probably damaging Het
Stard3 T A 11: 98,267,435 (GRCm39) probably null Het
Susd2 G T 10: 75,473,878 (GRCm39) S572R possibly damaging Het
Tll1 C A 8: 64,509,307 (GRCm39) A568S probably benign Het
Tmem132a C G 19: 10,839,062 (GRCm39) G460A probably damaging Het
Trim62 A G 4: 128,803,281 (GRCm39) K444E probably damaging Het
Trpm3 A G 19: 22,689,271 (GRCm39) T67A probably damaging Het
Ttc6 T C 12: 57,784,454 (GRCm39) M1841T possibly damaging Het
Ulk2 A T 11: 61,672,572 (GRCm39) V922D probably damaging Het
Vmn2r38 C A 7: 9,078,532 (GRCm39) V617L probably damaging Het
Xkr6 G A 14: 64,056,766 (GRCm39) V226M probably benign Het
Zfp940 G A 7: 29,544,962 (GRCm39) A315V possibly damaging Het
Zfr C A 15: 12,150,473 (GRCm39) T480K possibly damaging 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
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
Predicted Primers PCR Primer
(F):5'- TGGCGAAAAGGCAGAACTTCCCAG -3'
(R):5'- GAGGCGATTTCACCACATAGGCATC -3'

Sequencing Primer
(F):5'- CGACTTCACAGACAACTGTCTGA -3'
(R):5'- CAGTGTCGTTAGGTAGAACCATC -3'
Posted On 2014-04-24