Incidental Mutation 'R2867:Cyp7a1'
| ID |
266381 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp7a1
|
| Ensembl Gene |
ENSMUSG00000028240 |
| Gene Name |
cytochrome P450, family 7, subfamily a, polypeptide 1 |
| Synonyms |
cholesterol 7 alpha hydroxylase |
| MMRRC Submission |
040456-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.376)
|
| Stock # |
R2867 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
6265612-6275632 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 6272493 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 240
(E240G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029905
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029905]
|
| AlphaFold |
Q64505 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029905
AA Change: E240G
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000029905
Gene: ENSMUSG00000028240
AA Change: E240G
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
24 |
N/A |
INTRINSIC |
|
Pfam:p450
|
32 |
497 |
2.3e-87 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147346
|
| Meta Mutation Damage Score |
0.1540 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
97% (30/31) |
| 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 in the liver, which converts cholesterol to bile acids. This reaction is the rate limiting step and the major site of regulation of bile acid synthesis, which is the primary mechanism for the removal of cholesterol from the body. Polymorphisms in the promoter of this gene are associated with defects in bile acid synthesis. [provided by RefSeq, Feb 2010]
PHENOTYPE: Mice homozygous for disruption of this gene experience severe neonatal and postnatal lethality. Supplementation of the maternal diet with fat soluble vitamins and cholic acid starting before birth alleviates much of the phenotype. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adss2 |
T |
C |
1: 177,595,378 (GRCm39) |
|
probably null |
Het |
| Arid3c |
T |
C |
4: 41,725,958 (GRCm39) |
D215G |
probably damaging |
Het |
| Birc2 |
A |
C |
9: 7,834,478 (GRCm39) |
M1R |
probably null |
Het |
| Caprin2 |
G |
A |
6: 148,747,738 (GRCm39) |
|
silent |
Het |
| Cog4 |
C |
A |
8: 111,593,291 (GRCm39) |
|
probably benign |
Het |
| Cpz |
T |
C |
5: 35,659,705 (GRCm39) |
K647E |
probably benign |
Het |
| Ctnna2 |
T |
C |
6: 77,091,905 (GRCm39) |
|
probably benign |
Het |
| Dnaaf11 |
A |
T |
15: 66,310,257 (GRCm39) |
L337* |
probably null |
Het |
| Efhc2 |
A |
T |
X: 17,027,484 (GRCm39) |
|
probably benign |
Homo |
| Epha6 |
T |
C |
16: 59,780,659 (GRCm39) |
|
probably null |
Het |
| Evc |
T |
A |
5: 37,473,619 (GRCm39) |
|
probably benign |
Het |
| Fbf1 |
A |
G |
11: 116,052,274 (GRCm39) |
|
probably benign |
Het |
| Grin2b |
A |
G |
6: 135,710,637 (GRCm39) |
F970L |
probably damaging |
Het |
| Gtf3c4 |
A |
G |
2: 28,729,916 (GRCm39) |
|
probably benign |
Het |
| Kcnma1 |
A |
T |
14: 23,423,275 (GRCm39) |
N682K |
probably benign |
Het |
| Kif20b |
A |
G |
19: 34,917,528 (GRCm39) |
E631G |
probably damaging |
Het |
| Lctl |
T |
C |
9: 64,045,150 (GRCm39) |
S550P |
probably benign |
Het |
| Mapk10 |
C |
T |
5: 103,186,548 (GRCm39) |
D25N |
probably benign |
Het |
| Mgst2 |
A |
G |
3: 51,571,954 (GRCm39) |
|
silent |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| N4bp1 |
T |
C |
8: 87,588,033 (GRCm39) |
N302D |
probably benign |
Het |
| Pcdh7 |
A |
T |
5: 57,879,236 (GRCm39) |
K930N |
probably damaging |
Het |
| Pramel16 |
T |
A |
4: 143,675,456 (GRCm39) |
I457L |
probably benign |
Het |
| Proca1 |
A |
T |
11: 78,095,806 (GRCm39) |
N146I |
probably damaging |
Het |
| RP23-211L5.9 |
T |
C |
6: 68,872,634 (GRCm39) |
|
probably null |
Het |
| Ryr2 |
A |
T |
13: 11,776,235 (GRCm39) |
W1101R |
probably damaging |
Het |
| Slc35d3 |
T |
C |
10: 19,725,209 (GRCm39) |
T216A |
probably benign |
Het |
| Terb1 |
C |
T |
8: 105,174,485 (GRCm39) |
|
probably benign |
Het |
| Thnsl2 |
C |
A |
6: 71,108,945 (GRCm39) |
D289Y |
probably damaging |
Het |
| Tigd4 |
A |
G |
3: 84,501,259 (GRCm39) |
N59D |
possibly damaging |
Het |
| Togaram2 |
T |
C |
17: 72,016,592 (GRCm39) |
S649P |
probably benign |
Het |
| Tradd |
G |
T |
8: 105,986,145 (GRCm39) |
F182L |
probably benign |
Het |
| Trav17 |
A |
T |
14: 54,044,383 (GRCm39) |
Y50F |
probably benign |
Het |
| Usp37 |
A |
T |
1: 74,489,691 (GRCm39) |
D808E |
probably damaging |
Het |
| Usp42 |
G |
A |
5: 143,701,219 (GRCm39) |
P935S |
possibly damaging |
Het |
| Vmn2r23 |
A |
G |
6: 123,690,123 (GRCm39) |
D333G |
possibly damaging |
Het |
| Zfpm2 |
C |
T |
15: 40,962,785 (GRCm39) |
A149V |
probably benign |
Het |
|
| Other mutations in Cyp7a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01298:Cyp7a1
|
APN |
4 |
6,275,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01577:Cyp7a1
|
APN |
4 |
6,273,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01723:Cyp7a1
|
APN |
4 |
6,272,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02602:Cyp7a1
|
APN |
4 |
6,272,871 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL03302:Cyp7a1
|
APN |
4 |
6,273,801 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1017:Cyp7a1
|
UTSW |
4 |
6,272,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1737:Cyp7a1
|
UTSW |
4 |
6,272,848 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2044:Cyp7a1
|
UTSW |
4 |
6,275,492 (GRCm39) |
missense |
probably null |
1.00 |
|
R2326:Cyp7a1
|
UTSW |
4 |
6,268,396 (GRCm39) |
missense |
probably benign |
|
|
R2867:Cyp7a1
|
UTSW |
4 |
6,272,493 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3438:Cyp7a1
|
UTSW |
4 |
6,272,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4181:Cyp7a1
|
UTSW |
4 |
6,271,205 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4844:Cyp7a1
|
UTSW |
4 |
6,273,655 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5184:Cyp7a1
|
UTSW |
4 |
6,271,207 (GRCm39) |
missense |
probably benign |
|
|
R5371:Cyp7a1
|
UTSW |
4 |
6,268,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5613:Cyp7a1
|
UTSW |
4 |
6,272,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5682:Cyp7a1
|
UTSW |
4 |
6,268,429 (GRCm39) |
missense |
probably benign |
0.28 |
|
R5987:Cyp7a1
|
UTSW |
4 |
6,268,476 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5995:Cyp7a1
|
UTSW |
4 |
6,272,371 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R6128:Cyp7a1
|
UTSW |
4 |
6,272,788 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6552:Cyp7a1
|
UTSW |
4 |
6,272,361 (GRCm39) |
nonsense |
probably null |
|
|
R6860:Cyp7a1
|
UTSW |
4 |
6,272,587 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7032:Cyp7a1
|
UTSW |
4 |
6,268,463 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7631:Cyp7a1
|
UTSW |
4 |
6,272,763 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7884:Cyp7a1
|
UTSW |
4 |
6,272,697 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8289:Cyp7a1
|
UTSW |
4 |
6,268,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8681:Cyp7a1
|
UTSW |
4 |
6,271,207 (GRCm39) |
missense |
probably benign |
|
|
R8721:Cyp7a1
|
UTSW |
4 |
6,268,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8931:Cyp7a1
|
UTSW |
4 |
6,271,238 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R9613:Cyp7a1
|
UTSW |
4 |
6,272,587 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9748:Cyp7a1
|
UTSW |
4 |
6,269,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCAGAAGGTTGCAGGAATG -3'
(R):5'- ATCAAAGAGCGCTGTCTGGG -3'
Sequencing Primer
(F):5'- AATGGTGTTTGCTTGAGATGCCC -3'
(R):5'- GTTTGAAGCCGGATATCTAACGC -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation