Incidental Mutation 'R6473:Cyp46a1'
| ID |
520358 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp46a1
|
| Ensembl Gene |
ENSMUSG00000021259 |
| Gene Name |
cytochrome P450, family 46, subfamily a, polypeptide 1 |
| Synonyms |
cholestrol 24-hydroxylase, Cyp46 |
| MMRRC Submission |
044606-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6473 (G1)
|
| Quality Score |
106.008 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
108300640-108328493 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 108321734 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 320
(R320L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021684
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021684]
[ENSMUST00000221708]
|
| AlphaFold |
Q9WVK8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021684
AA Change: R320L
PolyPhen 2
Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000021684
Gene: ENSMUSG00000021259
AA Change: R320L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
18 |
N/A |
INTRINSIC |
|
Pfam:p450
|
34 |
484 |
1.7e-86 |
PFAM |
|
low complexity region
|
493 |
499 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221708
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222240
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222902
|
| Meta Mutation Damage Score |
0.1493 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 96.9%
- 20x: 89.9%
|
| Validation Efficiency |
95% (36/38) |
| 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 protein is expressed in the brain, where it converts cholesterol to 24S-hydroxycholesterol. While cholesterol cannot pass the blood-brain barrier, 24S-hydroxycholesterol can be secreted in the brain into the circulation to be returned to the liver for catabolism. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygouse for deletions in this gene are essentially normal. Levels of 24(s)-hydroxycholesterol are reduced in serum and in the brain. Cholesterol synthesis in the brain is reduced 40%. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts1 |
T |
C |
16: 85,596,531 (GRCm39) |
D106G |
probably damaging |
Het |
| Adat3 |
A |
G |
10: 80,442,801 (GRCm39) |
D213G |
probably damaging |
Het |
| Akt1 |
T |
C |
12: 112,628,694 (GRCm39) |
D32G |
probably damaging |
Het |
| Ampd1 |
C |
T |
3: 103,002,962 (GRCm39) |
R61* |
probably null |
Het |
| Ash2l |
T |
A |
8: 26,325,008 (GRCm39) |
T184S |
probably damaging |
Het |
| B3galnt1 |
T |
C |
3: 69,482,673 (GRCm39) |
N196S |
possibly damaging |
Het |
| Chmp2b |
C |
T |
16: 65,343,758 (GRCm39) |
G96S |
probably damaging |
Het |
| Cyp2d26 |
T |
C |
15: 82,675,968 (GRCm39) |
N248S |
probably benign |
Het |
| Dact1 |
A |
G |
12: 71,364,472 (GRCm39) |
T418A |
probably benign |
Het |
| Ddx3y |
T |
C |
Y: 1,265,971 (GRCm39) |
Y342C |
possibly damaging |
Homo |
| Dnm3 |
T |
A |
1: 162,305,274 (GRCm39) |
Q40L |
probably damaging |
Het |
| Eif2s1 |
T |
C |
12: 78,927,999 (GRCm39) |
I225T |
probably damaging |
Het |
| Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
| Eps8 |
A |
T |
6: 137,456,096 (GRCm39) |
I795N |
probably damaging |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Fbxw7 |
T |
C |
3: 84,859,687 (GRCm39) |
|
probably benign |
Het |
| Gba1 |
C |
T |
3: 89,111,388 (GRCm39) |
P51L |
probably benign |
Het |
| Idh3b |
AG |
AGCACCACAACTG |
2: 130,121,593 (GRCm39) |
|
probably null |
Het |
| Kalrn |
A |
G |
16: 34,025,672 (GRCm39) |
I551T |
probably damaging |
Het |
| Madd |
T |
C |
2: 90,997,404 (GRCm39) |
T755A |
probably benign |
Het |
| Mrps31 |
A |
G |
8: 22,904,881 (GRCm39) |
D90G |
probably benign |
Het |
| Or14j4 |
T |
A |
17: 37,920,887 (GRCm39) |
T252S |
possibly damaging |
Het |
| Or5h23 |
A |
T |
16: 58,906,406 (GRCm39) |
L147M |
probably benign |
Het |
| P2ry12 |
T |
A |
3: 59,124,932 (GRCm39) |
I248F |
probably benign |
Het |
| Ptgfrn |
T |
C |
3: 100,952,955 (GRCm39) |
R760G |
probably damaging |
Het |
| Rsf1 |
CG |
CGACGGCGGGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Homo |
| Slpi |
T |
C |
2: 164,196,846 (GRCm39) |
Y116C |
probably damaging |
Het |
| St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
| Terb1 |
T |
A |
8: 105,199,669 (GRCm39) |
E425V |
probably damaging |
Het |
| Thbs2 |
A |
G |
17: 14,906,058 (GRCm39) |
S281P |
probably benign |
Het |
| Tnik |
A |
G |
3: 28,317,792 (GRCm39) |
M1V |
probably null |
Het |
| Usp16 |
G |
A |
16: 87,280,023 (GRCm39) |
S741N |
probably benign |
Het |
| Usp48 |
T |
C |
4: 137,336,419 (GRCm39) |
|
probably null |
Het |
| Vipr1 |
T |
C |
9: 121,497,621 (GRCm39) |
S380P |
probably damaging |
Het |
| Vmn1r21 |
A |
T |
6: 57,820,583 (GRCm39) |
I287K |
probably damaging |
Het |
| Zfp157 |
T |
C |
5: 138,454,188 (GRCm39) |
C129R |
probably damaging |
Het |
|
| Other mutations in Cyp46a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01622:Cyp46a1
|
APN |
12 |
108,318,234 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL01623:Cyp46a1
|
APN |
12 |
108,318,234 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL01804:Cyp46a1
|
APN |
12 |
108,321,745 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL02069:Cyp46a1
|
APN |
12 |
108,312,394 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL02900:Cyp46a1
|
APN |
12 |
108,309,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02969:Cyp46a1
|
APN |
12 |
108,309,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4651001:Cyp46a1
|
UTSW |
12 |
108,319,367 (GRCm39) |
missense |
probably benign |
0.17 |
|
R0138:Cyp46a1
|
UTSW |
12 |
108,317,470 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1572:Cyp46a1
|
UTSW |
12 |
108,318,198 (GRCm39) |
missense |
probably null |
0.97 |
|
R1879:Cyp46a1
|
UTSW |
12 |
108,319,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2280:Cyp46a1
|
UTSW |
12 |
108,321,730 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3879:Cyp46a1
|
UTSW |
12 |
108,324,389 (GRCm39) |
missense |
probably benign |
0.14 |
|
R4674:Cyp46a1
|
UTSW |
12 |
108,324,345 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4717:Cyp46a1
|
UTSW |
12 |
108,318,285 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6224:Cyp46a1
|
UTSW |
12 |
108,327,819 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6539:Cyp46a1
|
UTSW |
12 |
108,319,416 (GRCm39) |
splice site |
probably null |
|
|
R7253:Cyp46a1
|
UTSW |
12 |
108,318,255 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8208:Cyp46a1
|
UTSW |
12 |
108,318,171 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8805:Cyp46a1
|
UTSW |
12 |
108,327,462 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8951:Cyp46a1
|
UTSW |
12 |
108,312,348 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8992:Cyp46a1
|
UTSW |
12 |
108,324,366 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTTATCACCCACTGGCTAG -3'
(R):5'- TGAGGCCTCTAGACCTGGAATC -3'
Sequencing Primer
(F):5'- GACCATCTCCTTCATATCACAGC -3'
(R):5'- GGCCTCTAGACCTGGAATCAAGTAC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation