Incidental Mutation 'R0696:Cyp7b1'
| ID |
63446 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp7b1
|
| Ensembl Gene |
ENSMUSG00000039519 |
| Gene Name |
cytochrome P450, family 7, subfamily b, polypeptide 1 |
| Synonyms |
D3Ertd552e, hct-1 |
| MMRRC Submission |
038880-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0696 (G1)
|
| Quality Score |
97 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
18126114-18297502 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 18126749 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 466
(T466A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037487
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035625]
|
| AlphaFold |
Q60991 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035625
AA Change: T466A
PolyPhen 2
Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000037487
Gene: ENSMUSG00000039519
AA Change: T466A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
15 |
34 |
N/A |
INTRINSIC |
|
Pfam:p450
|
44 |
496 |
1e-52 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000178937
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 95.9%
|
| 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 first reaction in the cholesterol catabolic pathway of extrahepatic tissues, which converts cholesterol to bile acids. This enzyme likely plays a minor role in total bile acid synthesis, but may also be involved in the development of atherosclerosis, neurosteroid metabolism and sex hormone synthesis. Mutations in this gene have been associated with hereditary spastic paraplegia (SPG5 or HSP), an autosomal recessive disorder. [provided by RefSeq, Apr 2016]
PHENOTYPE: Mice homozygous for a knock-out allele show significantly increased levels of 25- and 27-hydroxycholesterol, and reduced IgA levels. Female mice homozygous for a reporter allele display early onset of puberty and early ovarian failure. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amigo2 |
T |
C |
15: 97,143,855 (GRCm39) |
K189R |
probably benign |
Het |
| Arpp21 |
A |
T |
9: 112,012,657 (GRCm39) |
|
probably null |
Het |
| Atp6v1a |
G |
T |
16: 43,907,834 (GRCm39) |
Q603K |
probably benign |
Het |
| Bcorl1 |
C |
A |
X: 47,494,895 (GRCm39) |
P1722H |
probably damaging |
Het |
| Cd209a |
C |
A |
8: 3,798,384 (GRCm39) |
A55S |
possibly damaging |
Het |
| Cdh6 |
A |
G |
15: 13,051,418 (GRCm39) |
V405A |
probably benign |
Het |
| Cdsn |
A |
T |
17: 35,866,893 (GRCm39) |
Q474L |
possibly damaging |
Het |
| Col4a4 |
T |
A |
1: 82,470,270 (GRCm39) |
D753V |
unknown |
Het |
| Csmd3 |
T |
C |
15: 47,710,569 (GRCm39) |
T1569A |
probably benign |
Het |
| Cul7 |
C |
T |
17: 46,970,534 (GRCm39) |
P1084L |
probably damaging |
Het |
| Enpp2 |
C |
T |
15: 54,761,092 (GRCm39) |
W253* |
probably null |
Het |
| Igf2bp2 |
A |
T |
16: 21,898,875 (GRCm39) |
S245T |
probably benign |
Het |
| Lmnb1 |
A |
G |
18: 56,873,793 (GRCm39) |
T400A |
probably damaging |
Het |
| Mecom |
T |
C |
3: 30,010,538 (GRCm39) |
T724A |
probably benign |
Het |
| Mybl1 |
T |
C |
1: 9,743,373 (GRCm39) |
N560D |
probably damaging |
Het |
| Nav1 |
A |
G |
1: 135,460,352 (GRCm39) |
S324P |
probably damaging |
Het |
| Prrc2c |
C |
T |
1: 162,536,421 (GRCm39) |
|
probably null |
Het |
| Rgma |
T |
C |
7: 73,059,160 (GRCm39) |
V88A |
probably damaging |
Het |
| Slc7a1 |
A |
T |
5: 148,277,366 (GRCm39) |
V383E |
probably benign |
Het |
| St8sia5 |
A |
G |
18: 77,342,160 (GRCm39) |
N254S |
probably damaging |
Het |
| Stx19 |
A |
G |
16: 62,642,406 (GRCm39) |
K74R |
probably benign |
Het |
| Tmem81 |
C |
G |
1: 132,435,567 (GRCm39) |
I124M |
probably damaging |
Het |
| Uap1 |
G |
A |
1: 169,976,843 (GRCm39) |
P452L |
probably benign |
Het |
| Zfp101 |
C |
T |
17: 33,600,401 (GRCm39) |
A452T |
possibly damaging |
Het |
| Zfp820 |
A |
G |
17: 22,039,041 (GRCm39) |
S96P |
possibly damaging |
Het |
|
| Other mutations in Cyp7b1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02728:Cyp7b1
|
APN |
3 |
18,126,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0166:Cyp7b1
|
UTSW |
3 |
18,151,530 (GRCm39) |
missense |
probably benign |
0.23 |
|
R0334:Cyp7b1
|
UTSW |
3 |
18,157,960 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0417:Cyp7b1
|
UTSW |
3 |
18,150,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0894:Cyp7b1
|
UTSW |
3 |
18,151,674 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1799:Cyp7b1
|
UTSW |
3 |
18,151,616 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1893:Cyp7b1
|
UTSW |
3 |
18,150,731 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R4538:Cyp7b1
|
UTSW |
3 |
18,151,745 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4692:Cyp7b1
|
UTSW |
3 |
18,126,728 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4877:Cyp7b1
|
UTSW |
3 |
18,151,457 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5382:Cyp7b1
|
UTSW |
3 |
18,151,385 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R5841:Cyp7b1
|
UTSW |
3 |
18,151,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6867:Cyp7b1
|
UTSW |
3 |
18,151,394 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7007:Cyp7b1
|
UTSW |
3 |
18,151,782 (GRCm39) |
nonsense |
probably null |
|
|
R7379:Cyp7b1
|
UTSW |
3 |
18,151,538 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7554:Cyp7b1
|
UTSW |
3 |
18,151,610 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7814:Cyp7b1
|
UTSW |
3 |
18,151,466 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8137:Cyp7b1
|
UTSW |
3 |
18,151,765 (GRCm39) |
missense |
probably benign |
0.23 |
|
R8338:Cyp7b1
|
UTSW |
3 |
18,151,730 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8898:Cyp7b1
|
UTSW |
3 |
18,150,788 (GRCm39) |
missense |
probably benign |
0.29 |
|
R9132:Cyp7b1
|
UTSW |
3 |
18,151,476 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9285:Cyp7b1
|
UTSW |
3 |
18,151,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9378:Cyp7b1
|
UTSW |
3 |
18,150,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAGCCTTACTCTGCAAAGCTTCTC -3'
(R):5'- CTGTTTTGATAACAGCACAAGGCCC -3'
Sequencing Primer
(F):5'- GCAAAGCTTCTCTGCCAC -3'
(R):5'- tgcttttctttatcaattacccagac -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation