Incidental Mutation 'R4488:Cyp26c1'
| ID |
330610 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp26c1
|
| Ensembl Gene |
ENSMUSG00000062432 |
| Gene Name |
cytochrome P450, family 26, subfamily c, polypeptide 1 |
| Synonyms |
EG546726 |
| MMRRC Submission |
041744-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4488 (G1)
|
| Quality Score |
172 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
37674029-37681846 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 37681658 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 487
(V487A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000073105
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025946]
[ENSMUST00000073391]
|
| AlphaFold |
B2RXA7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025946
|
| SMART Domains |
Protein: ENSMUSP00000025946
Gene: ENSMUSG00000024987
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
27 |
N/A |
INTRINSIC |
|
Pfam:p450
|
45 |
487 |
2.4e-68 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000073391
AA Change: V487A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000073105
Gene: ENSMUSG00000062432
AA Change: V487A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
Pfam:p450
|
50 |
499 |
6.4e-54 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
95% (38/40) |
| 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 enzyme is involved in the catabolism of all-trans- and 9-cis-retinoic acid, and thus contributes to the regulation of retinoic acid levels in cells and tissues. This gene is adjacent to a related gene on chromosome 10q23.33. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and exhibit normal CNS development with no apparent anatomical defects. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alkal1 |
A |
T |
1: 6,429,631 (GRCm39) |
Q26L |
probably benign |
Het |
| Bltp1 |
A |
T |
3: 37,058,082 (GRCm39) |
Q3224L |
probably null |
Het |
| Brox |
A |
G |
1: 183,062,514 (GRCm39) |
L280S |
probably benign |
Het |
| Cep41 |
A |
T |
6: 30,655,688 (GRCm39) |
|
probably benign |
Het |
| Cryz |
C |
A |
3: 154,324,094 (GRCm39) |
|
probably benign |
Het |
| Dlx6 |
T |
C |
6: 6,867,207 (GRCm39) |
M270T |
probably damaging |
Het |
| Glb1 |
T |
C |
9: 114,272,182 (GRCm39) |
I273T |
probably damaging |
Het |
| Glp1r |
A |
C |
17: 31,137,905 (GRCm39) |
H112P |
probably benign |
Het |
| Grm6 |
T |
C |
11: 50,750,816 (GRCm39) |
S660P |
probably damaging |
Het |
| Hao2 |
T |
A |
3: 98,789,341 (GRCm39) |
I116F |
probably damaging |
Het |
| Hcrtr1 |
A |
G |
4: 130,029,556 (GRCm39) |
V175A |
probably benign |
Het |
| Homer3 |
G |
A |
8: 70,742,793 (GRCm39) |
|
probably null |
Het |
| Kifbp |
A |
G |
10: 62,398,806 (GRCm39) |
|
probably benign |
Het |
| Mki67 |
G |
A |
7: 135,299,400 (GRCm39) |
T1878I |
probably benign |
Het |
| Ncoa6 |
A |
G |
2: 155,249,396 (GRCm39) |
F1303L |
possibly damaging |
Het |
| Ngf |
G |
A |
3: 102,428,015 (GRCm39) |
D255N |
probably damaging |
Het |
| Nutf2 |
T |
A |
8: 106,603,059 (GRCm39) |
|
probably null |
Het |
| Or52e7 |
T |
C |
7: 104,684,510 (GRCm39) |
F35S |
probably benign |
Het |
| Rbm45 |
T |
C |
2: 76,206,740 (GRCm39) |
S251P |
probably damaging |
Het |
| Rnaset2b |
A |
G |
17: 7,265,469 (GRCm39) |
Y155C |
probably damaging |
Het |
| Rnf122 |
A |
G |
8: 31,618,283 (GRCm39) |
T92A |
probably damaging |
Het |
| Rnf220 |
A |
G |
4: 117,347,011 (GRCm39) |
S134P |
probably damaging |
Het |
| Shprh |
A |
T |
10: 11,036,215 (GRCm39) |
I351F |
probably benign |
Het |
| Smchd1 |
T |
C |
17: 71,714,230 (GRCm39) |
T878A |
probably benign |
Het |
| Sulf1 |
G |
T |
1: 12,856,739 (GRCm39) |
|
probably benign |
Het |
| Svil |
T |
C |
18: 5,049,067 (GRCm39) |
Y202H |
probably damaging |
Het |
| Tek |
A |
G |
4: 94,737,993 (GRCm39) |
D681G |
possibly damaging |
Het |
| Tra2a |
A |
G |
6: 49,229,428 (GRCm39) |
|
probably benign |
Het |
| Vcp |
A |
T |
4: 42,993,826 (GRCm39) |
I102N |
probably damaging |
Het |
| Vmn2r25 |
A |
T |
6: 123,799,819 (GRCm39) |
I841N |
probably damaging |
Het |
| Zfp949 |
T |
C |
9: 88,452,142 (GRCm39) |
S571P |
probably damaging |
Het |
| Zkscan16 |
A |
G |
4: 58,957,431 (GRCm39) |
E571G |
possibly damaging |
Het |
| Zup1 |
G |
A |
10: 33,824,960 (GRCm39) |
T174I |
probably damaging |
Het |
|
| Other mutations in Cyp26c1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02008:Cyp26c1
|
APN |
19 |
37,677,372 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02008:Cyp26c1
|
APN |
19 |
37,677,371 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02713:Cyp26c1
|
APN |
19 |
37,681,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02836:Cyp26c1
|
APN |
19 |
37,675,604 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0114:Cyp26c1
|
UTSW |
19 |
37,675,081 (GRCm39) |
missense |
probably benign |
0.24 |
|
R0671:Cyp26c1
|
UTSW |
19 |
37,675,009 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1544:Cyp26c1
|
UTSW |
19 |
37,679,393 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1959:Cyp26c1
|
UTSW |
19 |
37,675,825 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1961:Cyp26c1
|
UTSW |
19 |
37,675,825 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4393:Cyp26c1
|
UTSW |
19 |
37,675,105 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4532:Cyp26c1
|
UTSW |
19 |
37,674,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4687:Cyp26c1
|
UTSW |
19 |
37,681,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6302:Cyp26c1
|
UTSW |
19 |
37,674,936 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7334:Cyp26c1
|
UTSW |
19 |
37,677,323 (GRCm39) |
missense |
probably benign |
|
|
R7634:Cyp26c1
|
UTSW |
19 |
37,681,447 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8375:Cyp26c1
|
UTSW |
19 |
37,675,660 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8681:Cyp26c1
|
UTSW |
19 |
37,675,065 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9014:Cyp26c1
|
UTSW |
19 |
37,675,844 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9462:Cyp26c1
|
UTSW |
19 |
37,681,634 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGAGACAGCCGCAGTGTAC -3'
(R):5'- AGGACCTAGGGCTCTGAAGATTG -3'
Sequencing Primer
(F):5'- CTTCGATCCGGAGCGCTTTG -3'
(R):5'- GCTCTGAAGATTGGCCGG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation