Incidental Mutation 'R5849:Cyp27a1'
| ID |
453742 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp27a1
|
| Ensembl Gene |
ENSMUSG00000026170 |
| Gene Name |
cytochrome P450, family 27, subfamily a, polypeptide 1 |
| Synonyms |
Cyp27, cholesterol 27 hydroxylase, 1300013A03Rik |
| MMRRC Submission |
044066-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.118)
|
| Stock # |
R5849 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
74752733-74777051 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 74775843 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 343
(S343P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027356
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027356]
[ENSMUST00000081636]
[ENSMUST00000113672]
[ENSMUST00000160732]
[ENSMUST00000162093]
[ENSMUST00000188073]
|
| AlphaFold |
Q9DBG1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027356
AA Change: S343P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027356
Gene: ENSMUSG00000026170
AA Change: S343P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:p450
|
63 |
529 |
5.1e-107 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081636
|
| SMART Domains |
Protein: ENSMUSP00000080342
Gene: ENSMUSG00000006542
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
63 |
77 |
N/A |
INTRINSIC |
|
CBS
|
202 |
251 |
2.66e-6 |
SMART |
|
CBS
|
283 |
332 |
7.57e-11 |
SMART |
|
CBS
|
358 |
406 |
8.69e-11 |
SMART |
|
CBS
|
430 |
478 |
3.73e-10 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113672
|
| SMART Domains |
Protein: ENSMUSP00000109302
Gene: ENSMUSG00000006542
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
38 |
52 |
N/A |
INTRINSIC |
|
CBS
|
177 |
226 |
2.66e-6 |
SMART |
|
CBS
|
258 |
307 |
7.57e-11 |
SMART |
|
CBS
|
333 |
381 |
8.69e-11 |
SMART |
|
CBS
|
405 |
453 |
3.73e-10 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160732
|
| SMART Domains |
Protein: ENSMUSP00000125344
Gene: ENSMUSG00000006542
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
63 |
77 |
N/A |
INTRINSIC |
|
CBS
|
202 |
251 |
2.66e-6 |
SMART |
|
CBS
|
283 |
332 |
7.57e-11 |
SMART |
|
CBS
|
358 |
406 |
8.69e-11 |
SMART |
|
CBS
|
430 |
478 |
3.73e-10 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162093
|
| SMART Domains |
Protein: ENSMUSP00000125242
Gene: ENSMUSG00000006542
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
63 |
77 |
N/A |
INTRINSIC |
|
CBS
|
202 |
251 |
2.66e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188073
|
| SMART Domains |
Protein: ENSMUSP00000139909
Gene: ENSMUSG00000006542
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
63 |
77 |
N/A |
INTRINSIC |
|
CBS
|
202 |
251 |
2.66e-6 |
SMART |
|
CBS
|
283 |
332 |
7.57e-11 |
SMART |
|
CBS
|
358 |
406 |
8.69e-11 |
SMART |
|
CBS
|
430 |
478 |
3.73e-10 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189083
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190781
|
| Meta Mutation Damage Score |
0.9563 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.3%
|
| Validation Efficiency |
96% (72/75) |
| 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 mitochondrial protein oxidizes cholesterol intermediates as part of the bile synthesis pathway. Since the conversion of cholesterol to bile acids is the major route for removing cholesterol from the body, this protein is important for overall cholesterol homeostasis. Mutations in this gene cause cerebrotendinous xanthomatosis, a rare autosomal recessive lipid storage disease. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null allele show hepato- and adrenomegaly, reduced bile acid synthesis, increased cholesterol 7alpha-hydroxylase activity and 7alpha-hydroxycholesterol levels, slightly higher 25-hydroxyvitamin D levels, and altered hepatic fatty acid, triacylglycerol, and adrenal cholesterol homeostasis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930553M12Rik |
T |
C |
4: 88,786,596 (GRCm39) |
I7M |
unknown |
Het |
| Abca8b |
C |
A |
11: 109,868,639 (GRCm39) |
G175V |
probably damaging |
Het |
| Agbl1 |
T |
C |
7: 75,974,846 (GRCm39) |
S113P |
probably benign |
Het |
| Ak9 |
A |
G |
10: 41,224,045 (GRCm39) |
D486G |
probably benign |
Het |
| Aopep |
A |
G |
13: 63,163,312 (GRCm39) |
D111G |
probably benign |
Het |
| Arhgap11a |
T |
C |
2: 113,665,192 (GRCm39) |
S469G |
probably null |
Het |
| Comtd1 |
C |
T |
14: 21,898,188 (GRCm39) |
G48D |
probably damaging |
Het |
| Dcun1d1 |
T |
A |
3: 35,970,333 (GRCm39) |
|
probably benign |
Het |
| Dennd4c |
T |
C |
4: 86,744,223 (GRCm39) |
I1404T |
possibly damaging |
Het |
| Dlgap5 |
A |
G |
14: 47,626,892 (GRCm39) |
S766P |
possibly damaging |
Het |
| Ebf1 |
T |
A |
11: 44,881,331 (GRCm39) |
|
probably null |
Het |
| Flcn |
T |
A |
11: 59,695,586 (GRCm39) |
I4L |
probably damaging |
Het |
| Gm57858 |
A |
T |
3: 36,087,026 (GRCm39) |
D189E |
possibly damaging |
Het |
| Grin2c |
T |
C |
11: 115,151,817 (GRCm39) |
T48A |
probably benign |
Het |
| Hyal5 |
T |
A |
6: 24,891,555 (GRCm39) |
S456R |
probably benign |
Het |
| Igf1r |
A |
G |
7: 67,839,781 (GRCm39) |
D696G |
probably benign |
Het |
| Iqgap1 |
A |
T |
7: 80,452,906 (GRCm39) |
V13D |
probably benign |
Het |
| Itgal |
A |
G |
7: 126,916,492 (GRCm39) |
N728S |
probably benign |
Het |
| Kcnb1 |
T |
A |
2: 166,947,946 (GRCm39) |
I301F |
probably damaging |
Het |
| Kcnd3 |
A |
G |
3: 105,366,111 (GRCm39) |
|
probably benign |
Het |
| Kdm4a |
C |
T |
4: 118,019,037 (GRCm39) |
R393Q |
probably benign |
Het |
| Lcn9 |
G |
A |
2: 25,713,268 (GRCm39) |
|
probably null |
Het |
| Madcam1 |
T |
A |
10: 79,500,824 (GRCm39) |
M47K |
probably benign |
Het |
| Matn3 |
A |
G |
12: 9,008,829 (GRCm39) |
Q314R |
probably benign |
Het |
| Msh3 |
A |
T |
13: 92,386,386 (GRCm39) |
D826E |
possibly damaging |
Het |
| Muc4 |
A |
T |
16: 32,595,213 (GRCm39) |
T3088S |
possibly damaging |
Het |
| Mup3 |
T |
G |
4: 62,005,172 (GRCm39) |
|
probably null |
Het |
| Myo15b |
A |
G |
11: 115,772,759 (GRCm39) |
K1807E |
probably damaging |
Het |
| Myrip |
A |
G |
9: 120,282,759 (GRCm39) |
D688G |
probably damaging |
Het |
| Nup153 |
A |
G |
13: 46,840,452 (GRCm39) |
F1052S |
probably damaging |
Het |
| Oplah |
T |
A |
15: 76,181,547 (GRCm39) |
|
probably benign |
Het |
| Or4f14d |
A |
T |
2: 111,960,223 (GRCm39) |
I311K |
probably benign |
Het |
| Or52r1c |
T |
A |
7: 102,734,728 (GRCm39) |
M1K |
probably null |
Het |
| Or6z3 |
A |
T |
7: 6,463,993 (GRCm39) |
I162F |
possibly damaging |
Het |
| Or9g19 |
A |
T |
2: 85,600,768 (GRCm39) |
I208F |
probably benign |
Het |
| Pacsin2 |
A |
G |
15: 83,274,719 (GRCm39) |
F120L |
possibly damaging |
Het |
| Ppp1r36 |
C |
A |
12: 76,485,931 (GRCm39) |
P363Q |
probably damaging |
Het |
| Rai1 |
C |
A |
11: 60,081,347 (GRCm39) |
H1804N |
possibly damaging |
Het |
| Rictor |
G |
A |
15: 6,823,487 (GRCm39) |
E1555K |
probably benign |
Het |
| Rnf214 |
G |
A |
9: 45,779,386 (GRCm39) |
P455S |
probably damaging |
Het |
| Rnf220 |
T |
C |
4: 117,134,809 (GRCm39) |
T188A |
possibly damaging |
Het |
| S1pr4 |
C |
T |
10: 81,335,157 (GRCm39) |
V106M |
possibly damaging |
Het |
| Sall2 |
C |
A |
14: 52,551,704 (GRCm39) |
S495I |
probably benign |
Het |
| Sars2 |
A |
G |
7: 28,443,683 (GRCm39) |
E95G |
possibly damaging |
Het |
| Sema3f |
G |
A |
9: 107,559,815 (GRCm39) |
T693M |
probably damaging |
Het |
| Slfn2 |
C |
A |
11: 82,960,402 (GRCm39) |
T127K |
probably benign |
Het |
| Snrpe |
T |
A |
1: 133,536,652 (GRCm39) |
I43L |
probably benign |
Het |
| Srsf1 |
T |
C |
11: 87,938,684 (GRCm39) |
I7T |
possibly damaging |
Het |
| Ssbp1 |
T |
A |
6: 40,453,837 (GRCm39) |
|
probably benign |
Het |
| Stbd1 |
T |
G |
5: 92,752,854 (GRCm39) |
F115V |
probably benign |
Het |
| Stk11ip |
T |
A |
1: 75,503,999 (GRCm39) |
|
probably null |
Het |
| Taf1b |
T |
A |
12: 24,550,524 (GRCm39) |
N36K |
probably damaging |
Het |
| Tanc1 |
A |
T |
2: 59,630,248 (GRCm39) |
M743L |
probably benign |
Het |
| Tnfsf12 |
C |
A |
11: 69,577,793 (GRCm39) |
R208L |
probably damaging |
Het |
| Trafd1 |
T |
C |
5: 121,511,534 (GRCm39) |
D428G |
probably damaging |
Het |
| Trim24 |
A |
G |
6: 37,934,664 (GRCm39) |
E793G |
probably damaging |
Het |
| Tspan32 |
T |
C |
7: 142,569,324 (GRCm39) |
C100R |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,576,586 (GRCm39) |
D16442G |
probably damaging |
Het |
| Ube3c |
T |
A |
5: 29,863,407 (GRCm39) |
L894Q |
probably damaging |
Het |
| Wfs1 |
C |
G |
5: 37,130,608 (GRCm39) |
G213R |
probably damaging |
Het |
| Zfp384 |
G |
A |
6: 125,001,062 (GRCm39) |
A45T |
possibly damaging |
Het |
| Zfp865 |
G |
T |
7: 5,034,086 (GRCm39) |
K690N |
probably damaging |
Het |
|
| Other mutations in Cyp27a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01089:Cyp27a1
|
APN |
1 |
74,771,097 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL01824:Cyp27a1
|
APN |
1 |
74,775,040 (GRCm39) |
nonsense |
probably null |
|
|
IGL02725:Cyp27a1
|
APN |
1 |
74,774,862 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02966:Cyp27a1
|
APN |
1 |
74,771,249 (GRCm39) |
missense |
probably benign |
|
|
IGL03067:Cyp27a1
|
APN |
1 |
74,771,068 (GRCm39) |
splice site |
probably null |
|
|
R0103:Cyp27a1
|
UTSW |
1 |
74,775,074 (GRCm39) |
missense |
probably benign |
|
|
R0103:Cyp27a1
|
UTSW |
1 |
74,775,074 (GRCm39) |
missense |
probably benign |
|
|
R1968:Cyp27a1
|
UTSW |
1 |
74,776,435 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2271:Cyp27a1
|
UTSW |
1 |
74,775,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3847:Cyp27a1
|
UTSW |
1 |
74,776,718 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4735:Cyp27a1
|
UTSW |
1 |
74,776,366 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4936:Cyp27a1
|
UTSW |
1 |
74,774,564 (GRCm39) |
missense |
probably benign |
0.35 |
|
R6129:Cyp27a1
|
UTSW |
1 |
74,774,851 (GRCm39) |
missense |
probably benign |
0.24 |
|
R6193:Cyp27a1
|
UTSW |
1 |
74,776,231 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6344:Cyp27a1
|
UTSW |
1 |
74,776,008 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6464:Cyp27a1
|
UTSW |
1 |
74,775,047 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R7226:Cyp27a1
|
UTSW |
1 |
74,776,507 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7337:Cyp27a1
|
UTSW |
1 |
74,774,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7696:Cyp27a1
|
UTSW |
1 |
74,771,198 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7959:Cyp27a1
|
UTSW |
1 |
74,776,236 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8258:Cyp27a1
|
UTSW |
1 |
74,771,214 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8259:Cyp27a1
|
UTSW |
1 |
74,771,214 (GRCm39) |
missense |
probably benign |
0.22 |
|
R9352:Cyp27a1
|
UTSW |
1 |
74,752,920 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
Z1177:Cyp27a1
|
UTSW |
1 |
74,776,494 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTGAAATGCAGTCTTCCTCC -3'
(R):5'- CCTATGCGCATGGGATCATATC -3'
Sequencing Primer
(F):5'- GAAATGCAGTCTTCCTCCATATTGG -3'
(R):5'- CACAGCTTTTAGCAGAGG -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation