Incidental Mutation 'R8392:Cyp8b1'
| ID |
647428 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp8b1
|
| Ensembl Gene |
ENSMUSG00000050445 |
| Gene Name |
cytochrome P450, family 8, subfamily b, polypeptide 1 |
| Synonyms |
sterol 12-alpha-hydrolase |
| MMRRC Submission |
067757-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.449)
|
| Stock # |
R8392 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
121743422-121745371 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 121744300 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 344
(E344G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052989
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050327]
[ENSMUST00000062474]
[ENSMUST00000214340]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000050327
|
| SMART Domains |
Protein: ENSMUSP00000050119
Gene: ENSMUSG00000044534
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
29 |
N/A |
INTRINSIC |
|
Pfam:7tm_1
|
62 |
311 |
1e-40 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000062474
AA Change: E344G
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000052989
Gene: ENSMUSG00000050445
AA Change: E344G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
24 |
N/A |
INTRINSIC |
|
Pfam:p450
|
32 |
492 |
5.7e-50 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214340
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum membrane protein catalyzes the conversion of 7 alpha-hydroxy-4-cholesten-3-one into 7-alpha,12-alpha-dihydroxy-4-cholesten-3-one. The balance between these two steroids determines the relative amounts of cholic acid and chenodeoxycholic acid both of which are secreted in the bile and affect the solubility of cholesterol. This gene is unique among the cytochrome P450 genes in that it is intronless. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele lack synthsesis of cholate (a primary bile acid) and its metabolites and display an increased bile acid pool and alterations in cholesterol metabolism. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl3 |
G |
A |
5: 81,794,397 (GRCm39) |
A473T |
probably benign |
Het |
| Ano2 |
T |
A |
6: 125,857,698 (GRCm39) |
N512K |
probably benign |
Het |
| Arhgap18 |
A |
T |
10: 26,721,936 (GRCm39) |
Y41F |
probably benign |
Het |
| Baz1a |
T |
A |
12: 54,969,908 (GRCm39) |
D584V |
probably damaging |
Het |
| Ccl2 |
A |
T |
11: 81,927,808 (GRCm39) |
Q84L |
probably damaging |
Het |
| Cdv3 |
T |
A |
9: 103,232,474 (GRCm39) |
H245L |
probably benign |
Het |
| Cfap54 |
T |
G |
10: 92,798,279 (GRCm39) |
K1660T |
unknown |
Het |
| Col4a1 |
T |
A |
8: 11,258,333 (GRCm39) |
|
probably null |
Het |
| Cpeb3 |
TTGCTGCTGCTGCTGCTGCTGCCGCTGCTGCTGCTG |
TTGCTGCTGCTGCTGCTGCCGCTGCTGCTGCTG |
19: 37,152,291 (GRCm39) |
|
probably benign |
Het |
| Crebbp |
G |
A |
16: 3,902,145 (GRCm39) |
R2365W |
possibly damaging |
Het |
| Crppa |
T |
A |
12: 36,440,497 (GRCm39) |
L135Q |
probably damaging |
Het |
| Ctsc |
A |
T |
7: 87,946,451 (GRCm39) |
Q160L |
probably benign |
Het |
| Cyp4a10 |
C |
T |
4: 115,386,675 (GRCm39) |
R441* |
probably null |
Het |
| Dnah12 |
T |
C |
14: 26,607,869 (GRCm39) |
F3801L |
probably benign |
Het |
| Dnhd1 |
A |
G |
7: 105,352,550 (GRCm39) |
R2568G |
possibly damaging |
Het |
| Erbin |
T |
A |
13: 103,970,570 (GRCm39) |
E1015D |
probably damaging |
Het |
| Filip1l |
A |
G |
16: 57,391,716 (GRCm39) |
E768G |
probably damaging |
Het |
| H2ac13 |
C |
T |
13: 21,900,656 (GRCm39) |
A22V |
unknown |
Het |
| Ildr1 |
G |
A |
16: 36,542,720 (GRCm39) |
W417* |
probably null |
Het |
| Ildr1 |
G |
T |
16: 36,542,721 (GRCm39) |
D418Y |
probably damaging |
Het |
| Kdsr |
A |
T |
1: 106,671,583 (GRCm39) |
M142K |
probably damaging |
Het |
| Kidins220 |
T |
A |
12: 25,040,727 (GRCm39) |
V111E |
probably damaging |
Het |
| Ly75 |
T |
C |
2: 60,180,284 (GRCm39) |
E631G |
probably benign |
Het |
| Muc13 |
G |
A |
16: 33,619,789 (GRCm39) |
G179D |
unknown |
Het |
| Nebl |
T |
A |
2: 17,457,363 (GRCm39) |
T66S |
probably benign |
Het |
| Npsr1 |
T |
A |
9: 24,221,377 (GRCm39) |
I277N |
possibly damaging |
Het |
| Or1j20 |
T |
G |
2: 36,760,352 (GRCm39) |
I258S |
probably damaging |
Het |
| Or6c213 |
T |
A |
10: 129,573,910 (GRCm39) |
N292I |
probably damaging |
Het |
| Pcdha11 |
T |
A |
18: 37,139,212 (GRCm39) |
Y280* |
probably null |
Het |
| Pitrm1 |
T |
C |
13: 6,599,696 (GRCm39) |
I46T |
probably benign |
Het |
| Plxnc1 |
A |
G |
10: 94,637,352 (GRCm39) |
V1308A |
possibly damaging |
Het |
| Ppp1r9a |
T |
C |
6: 5,143,491 (GRCm39) |
|
probably null |
Het |
| Ptgdr |
A |
G |
14: 45,096,379 (GRCm39) |
M111T |
probably damaging |
Het |
| Rab3gap1 |
A |
G |
1: 127,866,370 (GRCm39) |
K850R |
probably benign |
Het |
| Rsf1 |
G |
GACGGCGGCC |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
| Smtnl2 |
T |
A |
11: 72,293,993 (GRCm39) |
M188L |
probably benign |
Het |
| Snip1 |
G |
A |
4: 124,960,618 (GRCm39) |
V25M |
probably damaging |
Het |
| Spock3 |
A |
C |
8: 63,808,345 (GRCm39) |
D411A |
unknown |
Het |
| Sptbn4 |
C |
T |
7: 27,071,721 (GRCm39) |
R1581H |
probably damaging |
Het |
| Stard13 |
A |
G |
5: 150,965,627 (GRCm39) |
S1080P |
probably benign |
Het |
| Svep1 |
A |
T |
4: 58,070,566 (GRCm39) |
C2407S |
possibly damaging |
Het |
| Tanc1 |
T |
C |
2: 59,636,651 (GRCm39) |
S845P |
probably damaging |
Het |
| Tnfsf13 |
T |
C |
11: 69,574,688 (GRCm39) |
Y202C |
probably damaging |
Het |
| Top1 |
T |
A |
2: 160,559,374 (GRCm39) |
C632* |
probably null |
Het |
| Tsr1 |
C |
A |
11: 74,791,096 (GRCm39) |
T225K |
probably benign |
Het |
|
| Other mutations in Cyp8b1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01527:Cyp8b1
|
APN |
9 |
121,744,061 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01874:Cyp8b1
|
APN |
9 |
121,744,969 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL02004:Cyp8b1
|
APN |
9 |
121,744,058 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02218:Cyp8b1
|
APN |
9 |
121,744,183 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02606:Cyp8b1
|
APN |
9 |
121,744,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02724:Cyp8b1
|
APN |
9 |
121,744,453 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL02796:Cyp8b1
|
UTSW |
9 |
121,744,564 (GRCm39) |
missense |
probably benign |
|
|
R1052:Cyp8b1
|
UTSW |
9 |
121,744,348 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1223:Cyp8b1
|
UTSW |
9 |
121,744,070 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R1572:Cyp8b1
|
UTSW |
9 |
121,744,024 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1639:Cyp8b1
|
UTSW |
9 |
121,743,956 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3833:Cyp8b1
|
UTSW |
9 |
121,745,109 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3938:Cyp8b1
|
UTSW |
9 |
121,744,684 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4151:Cyp8b1
|
UTSW |
9 |
121,745,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4615:Cyp8b1
|
UTSW |
9 |
121,745,164 (GRCm39) |
nonsense |
probably null |
|
|
R4625:Cyp8b1
|
UTSW |
9 |
121,744,651 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5327:Cyp8b1
|
UTSW |
9 |
121,743,950 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6391:Cyp8b1
|
UTSW |
9 |
121,744,864 (GRCm39) |
nonsense |
probably null |
|
|
R6998:Cyp8b1
|
UTSW |
9 |
121,745,059 (GRCm39) |
missense |
probably benign |
|
|
R7086:Cyp8b1
|
UTSW |
9 |
121,744,355 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7162:Cyp8b1
|
UTSW |
9 |
121,744,777 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7210:Cyp8b1
|
UTSW |
9 |
121,744,246 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7223:Cyp8b1
|
UTSW |
9 |
121,744,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8352:Cyp8b1
|
UTSW |
9 |
121,744,997 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8452:Cyp8b1
|
UTSW |
9 |
121,744,997 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8672:Cyp8b1
|
UTSW |
9 |
121,743,986 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8897:Cyp8b1
|
UTSW |
9 |
121,745,358 (GRCm39) |
start gained |
probably benign |
|
|
R9484:Cyp8b1
|
UTSW |
9 |
121,744,983 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9764:Cyp8b1
|
UTSW |
9 |
121,744,294 (GRCm39) |
missense |
probably benign |
0.03 |
|
RF013:Cyp8b1
|
UTSW |
9 |
121,744,561 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
Z1177:Cyp8b1
|
UTSW |
9 |
121,745,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Cyp8b1
|
UTSW |
9 |
121,744,597 (GRCm39) |
missense |
probably benign |
0.06 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAGGAACCGATCATACTTGAAG -3'
(R):5'- ACTTTATGATGCTCTGGGCC -3'
Sequencing Primer
(F):5'- ACCGATCATACTTGAAGGCTGTG -3'
(R):5'- TCCCAGGGGAACACGGG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation