Incidental Mutation 'R3926:Bco1'
| ID |
308285 |
| 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 |
040821-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.123)
|
| Stock # |
R3926 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
117822593-117860459 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 117854211 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 379
(S379P)
|
| 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: S379P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000034308
Gene: ENSMUSG00000031845
AA Change: S379P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RPE65
|
5 |
519 |
9e-114 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167370
AA Change: S379P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000132042
Gene: ENSMUSG00000031845
AA Change: S379P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RPE65
|
2 |
472 |
4.9e-117 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176860
AA Change: S379P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000134815
Gene: ENSMUSG00000031845
AA Change: S379P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RPE65
|
2 |
472 |
4.9e-117 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176943
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.6%
|
| Validation Efficiency |
98% (55/56) |
| 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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
| Ahnak |
G |
A |
19: 8,983,692 (GRCm39) |
D1659N |
probably benign |
Het |
| Arfgap2 |
C |
T |
2: 91,105,150 (GRCm39) |
R405W |
probably damaging |
Het |
| Asb14 |
T |
C |
14: 26,619,695 (GRCm39) |
I48T |
possibly damaging |
Het |
| Astn1 |
A |
T |
1: 158,407,227 (GRCm39) |
I559F |
possibly damaging |
Het |
| Atg7 |
C |
T |
6: 114,650,639 (GRCm39) |
T83M |
possibly damaging |
Het |
| Becn2 |
T |
C |
1: 175,748,852 (GRCm39) |
V306A |
probably benign |
Het |
| Bst1 |
T |
C |
5: 43,997,796 (GRCm39) |
V265A |
possibly damaging |
Het |
| Car11 |
T |
C |
7: 45,349,915 (GRCm39) |
F45L |
probably benign |
Het |
| Cdkl2 |
T |
C |
5: 92,180,998 (GRCm39) |
I214V |
possibly damaging |
Het |
| Cluap1 |
T |
A |
16: 3,729,398 (GRCm39) |
S141T |
probably damaging |
Het |
| Col11a1 |
C |
T |
3: 113,883,773 (GRCm39) |
|
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Corin |
T |
G |
5: 72,529,473 (GRCm39) |
D294A |
probably damaging |
Het |
| Crct1 |
C |
A |
3: 92,922,014 (GRCm39) |
|
probably benign |
Het |
| Ddx41 |
A |
G |
13: 55,679,083 (GRCm39) |
L559P |
probably damaging |
Het |
| Ddx59 |
T |
A |
1: 136,344,482 (GRCm39) |
V51D |
probably benign |
Het |
| Dennd1b |
A |
G |
1: 139,071,697 (GRCm39) |
N397D |
probably benign |
Het |
| Evc2 |
T |
A |
5: 37,540,574 (GRCm39) |
L590Q |
probably damaging |
Het |
| Fhl5 |
A |
T |
4: 25,214,790 (GRCm39) |
|
probably benign |
Het |
| Flg2 |
A |
G |
3: 93,110,522 (GRCm39) |
Y850C |
unknown |
Het |
| Gal3st2b |
G |
T |
1: 93,868,512 (GRCm39) |
V246L |
probably benign |
Het |
| Jam3 |
A |
T |
9: 27,017,701 (GRCm39) |
I29K |
possibly damaging |
Het |
| Klhl1 |
A |
T |
14: 96,584,316 (GRCm39) |
C305S |
possibly damaging |
Het |
| Lims2 |
A |
G |
18: 32,090,996 (GRCm39) |
S327G |
probably benign |
Het |
| Lynx1 |
A |
G |
15: 74,623,205 (GRCm39) |
Y76H |
probably damaging |
Het |
| Mycbp2 |
G |
A |
14: 103,441,936 (GRCm39) |
P1943L |
probably damaging |
Het |
| Myo3a |
A |
G |
2: 22,455,053 (GRCm39) |
D86G |
probably damaging |
Het |
| Nkx3-2 |
T |
A |
5: 41,919,223 (GRCm39) |
Q255L |
probably damaging |
Het |
| Notch3 |
C |
T |
17: 32,372,531 (GRCm39) |
R641H |
possibly damaging |
Het |
| Nr2c2 |
T |
A |
6: 92,137,382 (GRCm39) |
M431K |
probably damaging |
Het |
| Ogfod3 |
T |
C |
11: 121,074,255 (GRCm39) |
T265A |
probably damaging |
Het |
| Pcdh9 |
G |
T |
14: 94,124,246 (GRCm39) |
Y641* |
probably null |
Het |
| Pcdha9 |
T |
A |
18: 37,132,465 (GRCm39) |
D511E |
probably damaging |
Het |
| Pcdhgb8 |
A |
G |
18: 37,895,443 (GRCm39) |
Y171C |
probably damaging |
Het |
| Pcnx1 |
T |
C |
12: 82,005,505 (GRCm39) |
C1075R |
probably damaging |
Het |
| Pik3c3 |
C |
A |
18: 30,444,382 (GRCm39) |
|
probably benign |
Het |
| Pkhd1 |
T |
C |
1: 20,621,097 (GRCm39) |
T854A |
probably benign |
Het |
| Pycr1 |
T |
C |
11: 120,532,961 (GRCm39) |
T100A |
probably benign |
Het |
| Rhof |
T |
C |
5: 123,242,593 (GRCm39) |
|
probably null |
Het |
| Scn9a |
T |
A |
2: 66,357,217 (GRCm39) |
D1028V |
possibly damaging |
Het |
| Serpina3f |
T |
C |
12: 104,185,740 (GRCm39) |
I315T |
possibly damaging |
Het |
| Slc1a6 |
T |
A |
10: 78,648,715 (GRCm39) |
S479T |
possibly damaging |
Het |
| Tmcc1 |
T |
C |
6: 116,019,874 (GRCm39) |
D166G |
probably damaging |
Het |
| Trav3-3 |
A |
G |
14: 53,903,828 (GRCm39) |
K49E |
probably benign |
Het |
| Usp28 |
T |
C |
9: 48,942,223 (GRCm39) |
|
probably null |
Het |
| Utrn |
C |
T |
10: 12,573,786 (GRCm39) |
V1095I |
probably benign |
Het |
| Zfp217 |
T |
C |
2: 169,954,438 (GRCm39) |
D1038G |
probably damaging |
Het |
| Zfp709 |
A |
G |
8: 72,644,397 (GRCm39) |
R609G |
probably damaging |
Het |
| Zfp729a |
T |
A |
13: 67,768,310 (GRCm39) |
K640* |
probably null |
Het |
| Zfp986 |
A |
T |
4: 145,619,090 (GRCm39) |
|
probably benign |
Het |
| Zkscan6 |
A |
T |
11: 65,719,051 (GRCm39) |
H357L |
probably benign |
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 |
|
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'- AGCTGCTTCCTGTGGTTACC -3'
(R):5'- TCTATCCAAGGACCAGAAATGTTG -3'
Sequencing Primer
(F):5'- CTTCCTGTGGTTACCGCGAG -3'
(R):5'- AAAGATCCCCAAATTCTTTTCCTGGG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation