Incidental Mutation 'IGL01098:Cyp26a1'
| ID |
53243 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cyp26a1
|
| Ensembl Gene |
ENSMUSG00000024987 |
| Gene Name |
cytochrome P450, family 26, subfamily a, polypeptide 1 |
| Synonyms |
retinoic acid hydrolase, P450RA, Cyp26, P450RAI, RAH |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01098
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
37686246-37689984 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 37688450 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 324
(Q324L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025946
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025946]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025946
AA Change: Q324L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000025946
Gene: ENSMUSG00000024987
AA Change: Q324L
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
27 |
N/A |
INTRINSIC |
|
Pfam:p450
|
45 |
487 |
2.4e-68 |
PFAM |
|
| Coding Region Coverage |
|
| 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 protein acts on retinoids, including all-trans-retinoic acid (RA), with both 4-hydroxylation and 18-hydroxylation activities. This enzyme regulates the cellular level of retinoic acid which is involved in regulation of gene expression in both embryonic and adult tissues. Two alternatively spliced transcript variants of this gene, which encode the distinct isoforms, have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations die during mid-late gestation and exhibit spina bifida, caudal agenesis, and abnormalities of the kidneys, urogenital tract, hindgut, cervical vertebrae, and rostral hindbrain. [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 |
|---|
| 4921509C19Rik |
T |
C |
2: 151,315,453 (GRCm39) |
D75G |
possibly damaging |
Het |
| Brip1 |
G |
T |
11: 85,999,688 (GRCm39) |
R765S |
possibly damaging |
Het |
| Btbd16 |
T |
C |
7: 130,424,975 (GRCm39) |
I452T |
probably damaging |
Het |
| Cdc42ep4 |
T |
G |
11: 113,620,328 (GRCm39) |
D21A |
probably damaging |
Het |
| Cdx2 |
T |
A |
5: 147,243,792 (GRCm39) |
M1L |
possibly damaging |
Het |
| Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
| Csmd2 |
C |
T |
4: 127,952,845 (GRCm39) |
T98M |
probably damaging |
Het |
| Etaa1 |
A |
G |
11: 17,896,059 (GRCm39) |
V686A |
probably damaging |
Het |
| Gpr6 |
G |
A |
10: 40,946,739 (GRCm39) |
T281I |
probably damaging |
Het |
| Herc1 |
T |
A |
9: 66,369,204 (GRCm39) |
|
probably null |
Het |
| Lama2 |
A |
T |
10: 26,907,108 (GRCm39) |
I2351N |
possibly damaging |
Het |
| Lman1 |
A |
G |
18: 66,124,711 (GRCm39) |
F343L |
probably damaging |
Het |
| Lmo1 |
A |
G |
7: 108,742,657 (GRCm39) |
|
probably benign |
Het |
| Lrrc17 |
T |
A |
5: 21,780,269 (GRCm39) |
F414L |
probably benign |
Het |
| Man2b2 |
A |
T |
5: 36,972,900 (GRCm39) |
L538Q |
probably damaging |
Het |
| Map3k9 |
A |
G |
12: 81,770,928 (GRCm39) |
S910P |
probably damaging |
Het |
| Mapk1ip1 |
G |
A |
7: 138,438,191 (GRCm39) |
P80S |
probably damaging |
Het |
| Mindy4 |
G |
T |
6: 55,261,727 (GRCm39) |
|
probably benign |
Het |
| Msh4 |
A |
T |
3: 153,583,619 (GRCm39) |
|
probably benign |
Het |
| Mta2 |
A |
G |
19: 8,924,081 (GRCm39) |
D187G |
probably damaging |
Het |
| Olfml2a |
A |
G |
2: 38,837,226 (GRCm39) |
|
probably null |
Het |
| Pink1 |
A |
T |
4: 138,047,408 (GRCm39) |
|
probably null |
Het |
| Plekha6 |
T |
C |
1: 133,209,903 (GRCm39) |
F575L |
possibly damaging |
Het |
| Rpe |
C |
A |
1: 66,745,674 (GRCm39) |
D71E |
probably benign |
Het |
| Slc5a7 |
C |
T |
17: 54,599,988 (GRCm39) |
A142T |
probably benign |
Het |
| Sptbn1 |
C |
T |
11: 30,109,385 (GRCm39) |
R70K |
probably damaging |
Het |
| Taf1c |
G |
T |
8: 120,329,580 (GRCm39) |
Q159K |
probably damaging |
Het |
| Tgfb1i1 |
T |
C |
7: 127,851,693 (GRCm39) |
F311S |
probably damaging |
Het |
| Tmc8 |
T |
C |
11: 117,683,389 (GRCm39) |
V648A |
possibly damaging |
Het |
| Tmed8 |
G |
T |
12: 87,223,445 (GRCm39) |
A98E |
probably benign |
Het |
| Tmem200a |
A |
G |
10: 25,870,041 (GRCm39) |
I76T |
probably damaging |
Het |
| Vmn2r104 |
T |
C |
17: 20,268,358 (GRCm39) |
E37G |
probably benign |
Het |
| Vmn2r18 |
A |
T |
5: 151,496,296 (GRCm39) |
V474E |
probably damaging |
Het |
| Vps52 |
C |
T |
17: 34,181,704 (GRCm39) |
T510I |
possibly damaging |
Het |
| Wwox |
G |
T |
8: 115,172,118 (GRCm39) |
G71* |
probably null |
Het |
| Zer1 |
C |
T |
2: 29,998,232 (GRCm39) |
|
probably null |
Het |
| Zfp296 |
A |
T |
7: 19,311,845 (GRCm39) |
K117N |
possibly damaging |
Het |
|
| Other mutations in Cyp26a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01398:Cyp26a1
|
APN |
19 |
37,686,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01624:Cyp26a1
|
APN |
19 |
37,686,781 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02398:Cyp26a1
|
APN |
19 |
37,688,467 (GRCm39) |
missense |
probably benign |
|
|
IGL02437:Cyp26a1
|
APN |
19 |
37,686,943 (GRCm39) |
missense |
probably benign |
|
|
IGL02709:Cyp26a1
|
APN |
19 |
37,688,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02712:Cyp26a1
|
APN |
19 |
37,688,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0834:Cyp26a1
|
UTSW |
19 |
37,688,405 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1517:Cyp26a1
|
UTSW |
19 |
37,687,308 (GRCm39) |
missense |
probably benign |
|
|
R1696:Cyp26a1
|
UTSW |
19 |
37,689,626 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1831:Cyp26a1
|
UTSW |
19 |
37,689,071 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2040:Cyp26a1
|
UTSW |
19 |
37,686,499 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R2504:Cyp26a1
|
UTSW |
19 |
37,686,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4693:Cyp26a1
|
UTSW |
19 |
37,686,925 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4808:Cyp26a1
|
UTSW |
19 |
37,689,573 (GRCm39) |
missense |
probably benign |
|
|
R5124:Cyp26a1
|
UTSW |
19 |
37,689,665 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5412:Cyp26a1
|
UTSW |
19 |
37,689,630 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5964:Cyp26a1
|
UTSW |
19 |
37,688,410 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6355:Cyp26a1
|
UTSW |
19 |
37,687,377 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R6426:Cyp26a1
|
UTSW |
19 |
37,687,753 (GRCm39) |
missense |
probably benign |
0.14 |
|
R6501:Cyp26a1
|
UTSW |
19 |
37,687,518 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6734:Cyp26a1
|
UTSW |
19 |
37,689,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7019:Cyp26a1
|
UTSW |
19 |
37,687,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7188:Cyp26a1
|
UTSW |
19 |
37,687,753 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R7667:Cyp26a1
|
UTSW |
19 |
37,689,072 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7694:Cyp26a1
|
UTSW |
19 |
37,689,512 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8136:Cyp26a1
|
UTSW |
19 |
37,689,654 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9198:Cyp26a1
|
UTSW |
19 |
37,686,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9674:Cyp26a1
|
UTSW |
19 |
37,689,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-06-21 |
Incidental Mutation