Incidental Mutation 'R9083:Bco1'
| ID |
690401 |
| 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 |
068902-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.135)
|
| Stock # |
R9083 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
117822593-117860459 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 117844143 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 286
(I286L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034308
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034308]
[ENSMUST00000167370]
[ENSMUST00000176860]
|
| AlphaFold |
Q9JJS6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034308
AA Change: I286L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000034308
Gene: ENSMUSG00000031845
AA Change: I286L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RPE65
|
5 |
519 |
9e-114 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167370
AA Change: I286L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000132042
Gene: ENSMUSG00000031845
AA Change: I286L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RPE65
|
2 |
472 |
4.9e-117 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176860
AA Change: I286L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000134815
Gene: ENSMUSG00000031845
AA Change: I286L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RPE65
|
2 |
472 |
4.9e-117 |
PFAM |
|
| Meta Mutation Damage Score |
0.0855 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.5%
|
| Validation Efficiency |
100% (61/61) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
A |
T |
6: 128,534,524 (GRCm39) |
S844R |
possibly damaging |
Het |
| Adig |
C |
A |
2: 158,347,709 (GRCm39) |
|
probably benign |
Het |
| Aspm |
A |
G |
1: 139,421,436 (GRCm39) |
N3106S |
possibly damaging |
Het |
| Bcas1 |
A |
T |
2: 170,190,081 (GRCm39) |
|
probably benign |
Het |
| Bnc1 |
C |
T |
7: 81,624,646 (GRCm39) |
V194I |
probably benign |
Het |
| Bptf |
G |
A |
11: 106,959,176 (GRCm39) |
R1912W |
probably damaging |
Het |
| Cacna1a |
A |
G |
8: 85,344,511 (GRCm39) |
I1858V |
probably benign |
Het |
| Chdh |
T |
C |
14: 29,753,703 (GRCm39) |
F204S |
probably damaging |
Het |
| Cic |
A |
G |
7: 24,985,470 (GRCm39) |
T1212A |
probably damaging |
Het |
| Cpne7 |
C |
T |
8: 123,856,951 (GRCm39) |
P402L |
probably damaging |
Het |
| Cts8 |
A |
G |
13: 61,397,036 (GRCm39) |
Y295H |
probably damaging |
Het |
| Cyp1a2 |
T |
C |
9: 57,587,572 (GRCm39) |
T333A |
probably benign |
Het |
| Cyp2a12 |
T |
C |
7: 26,735,944 (GRCm39) |
F451S |
probably damaging |
Het |
| Dmxl2 |
T |
C |
9: 54,316,548 (GRCm39) |
I1613V |
probably benign |
Het |
| Eme1 |
A |
G |
11: 94,540,958 (GRCm39) |
L260S |
probably damaging |
Het |
| Ermp1 |
A |
C |
19: 29,623,415 (GRCm39) |
S192A |
probably benign |
Het |
| Fam186a |
T |
C |
15: 99,843,079 (GRCm39) |
Q1055R |
probably benign |
Het |
| Fat1 |
C |
T |
8: 45,466,127 (GRCm39) |
T1462M |
possibly damaging |
Het |
| Fat1 |
A |
G |
8: 45,491,336 (GRCm39) |
N3822S |
probably benign |
Het |
| Gm973 |
A |
G |
1: 59,675,317 (GRCm39) |
T225A |
|
Het |
| Gnl2 |
A |
G |
4: 124,941,357 (GRCm39) |
Y367C |
probably damaging |
Het |
| Golga5 |
T |
A |
12: 102,458,476 (GRCm39) |
S640T |
probably benign |
Het |
| Inafm1 |
A |
G |
7: 16,007,196 (GRCm39) |
V7A |
unknown |
Het |
| Irx2 |
A |
G |
13: 72,777,392 (GRCm39) |
D71G |
possibly damaging |
Het |
| Kash5 |
G |
A |
7: 44,854,058 (GRCm39) |
R24C |
unknown |
Het |
| Kif13a |
T |
C |
13: 46,966,263 (GRCm39) |
Y448C |
probably damaging |
Het |
| Lcor |
G |
T |
19: 41,574,839 (GRCm39) |
R1198L |
probably damaging |
Het |
| Ldlrad4 |
A |
T |
18: 68,197,746 (GRCm39) |
N10I |
probably benign |
Het |
| Lix1 |
T |
C |
17: 17,677,392 (GRCm39) |
Y196H |
possibly damaging |
Het |
| Lrrc37 |
A |
C |
11: 103,509,830 (GRCm39) |
S713A |
unknown |
Het |
| Mon1a |
A |
G |
9: 107,779,835 (GRCm39) |
Y468C |
probably damaging |
Het |
| Mroh4 |
A |
T |
15: 74,498,140 (GRCm39) |
I177N |
probably damaging |
Het |
| Mterf4 |
A |
T |
1: 93,229,515 (GRCm39) |
Y236* |
probably null |
Het |
| Myo1f |
T |
A |
17: 33,813,036 (GRCm39) |
I614N |
probably damaging |
Het |
| Nbas |
T |
A |
12: 13,385,856 (GRCm39) |
S707T |
possibly damaging |
Het |
| Ncl |
A |
T |
1: 86,279,183 (GRCm39) |
S577T |
possibly damaging |
Het |
| Or10al4 |
T |
A |
17: 38,037,060 (GRCm39) |
N48K |
probably damaging |
Het |
| Or52d13 |
T |
C |
7: 103,109,896 (GRCm39) |
D173G |
|
Het |
| Or6c2b |
A |
T |
10: 128,947,892 (GRCm39) |
M134K |
probably damaging |
Het |
| Or6c69c |
A |
T |
10: 129,910,941 (GRCm39) |
M221L |
probably benign |
Het |
| Or6c69c |
G |
C |
10: 129,910,969 (GRCm39) |
S230T |
probably benign |
Het |
| Or7g17 |
A |
T |
9: 18,768,550 (GRCm39) |
I201F |
probably benign |
Het |
| Or8g17 |
A |
G |
9: 38,930,016 (GRCm39) |
S274P |
probably damaging |
Het |
| Padi1 |
C |
A |
4: 140,559,602 (GRCm39) |
|
probably null |
Het |
| Patj |
G |
A |
4: 98,401,871 (GRCm39) |
V1004M |
probably benign |
Het |
| Pcdhb9 |
A |
T |
18: 37,535,770 (GRCm39) |
D588V |
probably damaging |
Het |
| Pdzph1 |
C |
A |
17: 59,261,395 (GRCm39) |
R879L |
possibly damaging |
Het |
| Pla2g2c |
G |
A |
4: 138,463,378 (GRCm39) |
V91I |
probably benign |
Het |
| Plin4 |
T |
C |
17: 56,416,345 (GRCm39) |
D53G |
possibly damaging |
Het |
| Poll |
T |
C |
19: 45,546,317 (GRCm39) |
Q241R |
probably benign |
Het |
| Recql5 |
A |
T |
11: 115,785,475 (GRCm39) |
L674M |
possibly damaging |
Het |
| Shroom3 |
G |
A |
5: 93,098,533 (GRCm39) |
G1338S |
probably damaging |
Het |
| Slc38a8 |
C |
T |
8: 120,212,780 (GRCm39) |
V294I |
probably benign |
Het |
| Slc4a1ap |
T |
C |
5: 31,684,457 (GRCm39) |
V31A |
probably benign |
Het |
| Tln2 |
G |
A |
9: 67,269,927 (GRCm39) |
P489S |
probably damaging |
Het |
| Trappc9 |
G |
A |
15: 72,608,626 (GRCm39) |
R928* |
probably null |
Het |
| Uba7 |
C |
A |
9: 107,855,166 (GRCm39) |
T343N |
probably benign |
Het |
| Vasn |
C |
T |
16: 4,467,871 (GRCm39) |
T606I |
probably benign |
Het |
| Xrn2 |
T |
A |
2: 146,880,199 (GRCm39) |
D507E |
probably damaging |
Het |
| Zfp592 |
T |
A |
7: 80,674,644 (GRCm39) |
M536K |
possibly damaging |
Het |
| Zfp932 |
A |
T |
5: 110,157,100 (GRCm39) |
H266L |
probably damaging |
Het |
|
| Other mutations in Bco1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
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'- ACCTGGCAGTTTGAGATGG -3'
(R):5'- GGTACCTTGTCCACATGGAG -3'
Sequencing Primer
(F):5'- CAGTTTGAGATGGGTACAGAGCTC -3'
(R):5'- AGGTCAGCCTGGACTTCTC -3'
|
| Posted On |
2021-12-30 |
Incidental Mutation