Incidental Mutation 'R5523:Bco1'
ID431684
Institutional Source Beutler Lab
Gene Symbol Bco1
Ensembl Gene ENSMUSG00000031845
Gene Namebeta-carotene oxygenase 1
SynonymsBcdo1, betaCMOOX, Bcmo1, Bcdo, beta-CD, Cmoi
MMRRC Submission 043265-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.153) question?
Stock #R5523 (G1)
Quality Score225
Status Not validated
Chromosome8
Chromosomal Location117095854-117133720 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 117108693 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 128 (I128V)
Ref Sequence ENSEMBL: ENSMUSP00000134815 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034308] [ENSMUST00000167370] [ENSMUST00000176860]
Predicted Effect probably benign
Transcript: ENSMUST00000034308
AA Change: I128V

PolyPhen 2 Score 0.275 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000034308
Gene: ENSMUSG00000031845
AA Change: I128V

DomainStartEndE-ValueType
Pfam:RPE65 5 519 9e-114 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000167370
AA Change: I128V

PolyPhen 2 Score 0.668 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000132042
Gene: ENSMUSG00000031845
AA Change: I128V

DomainStartEndE-ValueType
Pfam:RPE65 2 472 4.9e-117 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000176860
AA Change: I128V

PolyPhen 2 Score 0.668 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000134815
Gene: ENSMUSG00000031845
AA Change: I128V

DomainStartEndE-ValueType
Pfam:RPE65 2 472 4.9e-117 PFAM
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.4%
  • 20x: 91.4%
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadm G A 3: 153,938,636 T70M probably benign Het
Adamtsl3 G A 7: 82,574,442 A218T possibly damaging Het
Ahnak2 T C 12: 112,775,208 D810G probably damaging Het
Ak7 T A 12: 105,741,082 L315* probably null Het
Apoa5 T C 9: 46,270,589 F321S possibly damaging Het
Baiap2l1 G C 5: 144,275,958 P416A probably damaging Het
Bpifb2 T C 2: 153,875,985 probably benign Het
Cdt1 G A 8: 122,568,093 R13H possibly damaging Het
Cenpj A G 14: 56,552,423 V723A probably benign Het
Chl1 T A 6: 103,708,714 W849R probably damaging Het
Cpne9 A G 6: 113,290,231 D169G probably damaging Het
Cyp2d22 A G 15: 82,372,571 V334A probably damaging Het
Cyp4f39 C A 17: 32,470,833 N84K probably benign Het
Cyp4f40 T A 17: 32,669,822 F192I probably damaging Het
Disp3 T C 4: 148,258,097 D632G probably benign Het
Dnhd1 G A 7: 105,703,209 R2523Q probably damaging Het
Echs1 G T 7: 140,112,513 T107K probably benign Het
Ehmt2 C T 17: 34,899,091 R40* probably null Het
Ergic1 G A 17: 26,624,606 V17I probably damaging Het
Fank1 G T 7: 133,876,840 C210F probably damaging Het
Fbxo15 T G 18: 84,960,069 M136R probably damaging Het
Ggcx C A 6: 72,424,034 P240H probably damaging Het
Gpr179 T C 11: 97,336,782 R1516G probably benign Het
Gprin3 G A 6: 59,353,946 Q459* probably null Het
Hadha C A 5: 30,145,254 V99F possibly damaging Het
Hirip3 A G 7: 126,863,862 D330G possibly damaging Het
Irx2 T C 13: 72,631,595 W333R probably damaging Het
Kansl1l T C 1: 66,802,112 T10A probably benign Het
Kcnd2 T C 6: 21,723,212 I467T probably benign Het
Klc3 A T 7: 19,397,007 I215N probably damaging Het
Kmt2c A G 5: 25,299,339 V3657A probably benign Het
Lin28b A T 10: 45,469,068 L54* probably null Het
Mgll T C 6: 88,725,761 V14A probably benign Het
Mrc2 A G 11: 105,343,582 N976S probably benign Het
Myh8 C A 11: 67,305,962 A1807E possibly damaging Het
Nalcn G A 14: 123,409,743 P573S probably damaging Het
Ncam2 C T 16: 81,434,878 R77* probably null Het
Neb T C 2: 52,278,815 S1903G probably benign Het
Nfe2 T A 15: 103,249,129 D145V probably damaging Het
Olfr243 T A 7: 103,717,480 Y295* probably null Het
Padi1 A T 4: 140,814,853 V586D probably damaging Het
Pcdh12 T C 18: 38,283,139 D311G probably damaging Het
Pcdha11 A T 18: 37,012,386 H510L probably damaging Het
Plcb1 C A 2: 135,260,566 P221H probably benign Het
Plekhg2 A T 7: 28,370,431 V58E probably damaging Het
Pparg A C 6: 115,490,071 Q435P probably damaging Het
Ppp1r36 A G 12: 76,438,118 T282A possibly damaging Het
Prcd T C 11: 116,668,284 probably benign Het
Pygo1 A T 9: 72,944,984 H151L possibly damaging Het
Rnmt A G 18: 68,313,702 Y266C probably benign Het
Rxrb T C 17: 34,036,437 V246A probably damaging Het
Sart1 A G 19: 5,383,676 S378P probably damaging Het
Sema4d T C 13: 51,711,354 N318S possibly damaging Het
Sis C T 3: 72,891,421 V1765I probably benign Het
Slc17a6 A T 7: 51,626,850 K116* probably null Het
Smc6 T A 12: 11,291,539 H519Q probably benign Het
Sowahc T A 10: 59,222,963 M307K probably benign Het
Sptbn1 A G 11: 30,137,560 Y960H probably damaging Het
Tmem270 A C 5: 134,902,782 V102G probably benign Het
Tmprss11d A G 5: 86,338,870 F54L probably benign Het
Top1 T A 2: 160,702,775 Y270* probably null Het
Trpm2 A G 10: 77,935,961 F615L probably benign Het
Ttf2 A G 3: 100,959,242 S525P probably damaging Het
Ttn A T 2: 76,946,897 M1387K possibly damaging Het
Upk3bl A T 5: 136,060,100 R156W probably damaging Het
Usp34 G T 11: 23,349,198 R290L probably benign Het
Vwf T C 6: 125,643,042 V1561A Het
Zan A G 5: 137,421,893 I2834T unknown Het
Zfp105 A G 9: 122,926,389 Y90C probably benign Het
Zfp804a T C 2: 82,258,995 V1056A probably damaging Het
Zfp956 A T 6: 47,953,521 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
IGL02182:Bco1 APN 8 117133066 missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- ATACCTGGGTCCCCTAGATTCC -3'
(R):5'- CACAAAGATGGACAGCATGC -3'

Sequencing Primer
(F):5'- GATTCCTCAAGTGACCCATTGAGAG -3'
(R):5'- GCATGCAGAGCACCATGC -3'
Posted On2016-10-05