Incidental Mutation 'R6734:Cyp26a1'
| ID |
528372 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp26a1
|
| Ensembl Gene |
ENSMUSG00000024987 |
| Gene Name |
cytochrome P450, family 26, subfamily a, polypeptide 1 |
| Synonyms |
retinoic acid hydrolase, P450RA, Cyp26, P450RAI, RAH |
| MMRRC Submission |
044852-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6734 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
37686246-37689984 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 37689660 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Histidine
at position 452
(L452H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025946
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025946]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025946
AA Change: L452H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000025946
Gene: ENSMUSG00000024987
AA Change: L452H
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
27 |
N/A |
INTRINSIC |
|
Pfam:p450
|
45 |
487 |
2.4e-68 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.6%
|
| Validation Efficiency |
100% (52/52) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot11 |
C |
T |
4: 106,617,327 (GRCm39) |
G240R |
probably damaging |
Het |
| Ano6 |
A |
G |
15: 95,847,417 (GRCm39) |
K554R |
probably damaging |
Het |
| Arhgef10 |
A |
T |
8: 15,025,053 (GRCm39) |
I703F |
probably damaging |
Het |
| Bbs1 |
T |
C |
19: 4,953,924 (GRCm39) |
S80G |
probably benign |
Het |
| Bhlhe40 |
TG |
TGG |
6: 108,641,818 (GRCm39) |
254 |
probably null |
Het |
| Camk1 |
C |
A |
6: 113,311,345 (GRCm39) |
R352L |
probably benign |
Het |
| Cand1 |
G |
A |
10: 119,047,897 (GRCm39) |
P531L |
possibly damaging |
Het |
| Cnot2 |
G |
A |
10: 116,334,058 (GRCm39) |
P371S |
possibly damaging |
Het |
| Col24a1 |
C |
A |
3: 145,214,429 (GRCm39) |
P1384Q |
probably benign |
Het |
| Csmd2 |
C |
A |
4: 128,357,606 (GRCm39) |
T1689K |
probably benign |
Het |
| Dcpp2 |
T |
C |
17: 24,119,545 (GRCm39) |
Y120H |
probably damaging |
Het |
| Dennd6a |
G |
T |
14: 26,329,774 (GRCm39) |
R115L |
possibly damaging |
Het |
| Eml2 |
T |
A |
7: 18,934,432 (GRCm39) |
V377E |
probably benign |
Het |
| Fam135b |
T |
C |
15: 71,334,629 (GRCm39) |
E855G |
probably benign |
Het |
| Fam149a |
A |
T |
8: 45,834,478 (GRCm39) |
I107K |
probably benign |
Het |
| Fam227b |
A |
T |
2: 125,968,896 (GRCm39) |
Y59* |
probably null |
Het |
| Fbn2 |
T |
C |
18: 58,169,032 (GRCm39) |
E2249G |
probably damaging |
Het |
| Flrt1 |
T |
C |
19: 7,073,524 (GRCm39) |
D341G |
possibly damaging |
Het |
| Galnt9 |
G |
A |
5: 110,768,465 (GRCm39) |
R587H |
probably damaging |
Het |
| Gsdma2 |
A |
G |
11: 98,540,416 (GRCm39) |
T112A |
possibly damaging |
Het |
| Klhl24 |
T |
C |
16: 19,926,279 (GRCm39) |
V269A |
probably damaging |
Het |
| Lcorl |
A |
G |
5: 45,890,839 (GRCm39) |
S505P |
probably damaging |
Het |
| Liph |
A |
G |
16: 21,802,707 (GRCm39) |
S121P |
probably damaging |
Het |
| Lrp4 |
G |
A |
2: 91,316,242 (GRCm39) |
V787M |
possibly damaging |
Het |
| Lrrd1 |
A |
C |
5: 3,900,226 (GRCm39) |
D177A |
possibly damaging |
Het |
| Mbd1 |
G |
A |
18: 74,409,114 (GRCm39) |
R399H |
probably damaging |
Het |
| Naa25 |
C |
T |
5: 121,576,888 (GRCm39) |
T879M |
possibly damaging |
Het |
| Naa35 |
T |
G |
13: 59,756,005 (GRCm39) |
L147R |
possibly damaging |
Het |
| Ninl |
C |
A |
2: 150,787,003 (GRCm39) |
|
probably null |
Het |
| Nrap |
T |
C |
19: 56,333,941 (GRCm39) |
D972G |
probably damaging |
Het |
| Or9k7 |
A |
G |
10: 130,046,126 (GRCm39) |
F291S |
probably benign |
Het |
| Pdzd2 |
T |
C |
15: 12,592,551 (GRCm39) |
E31G |
probably damaging |
Het |
| Plec |
C |
T |
15: 76,078,603 (GRCm39) |
E41K |
probably damaging |
Het |
| Plxnb1 |
A |
T |
9: 108,937,988 (GRCm39) |
K1245* |
probably null |
Het |
| Ppfia1 |
T |
C |
7: 144,032,790 (GRCm39) |
T1263A |
probably damaging |
Het |
| Prex2 |
G |
A |
1: 11,150,283 (GRCm39) |
V152I |
probably damaging |
Het |
| Prpf40b |
C |
T |
15: 99,212,784 (GRCm39) |
R627W |
probably damaging |
Het |
| Prss3l |
T |
C |
6: 41,422,321 (GRCm39) |
Y28C |
probably damaging |
Het |
| Prune2 |
T |
G |
19: 16,981,097 (GRCm39) |
F85V |
probably damaging |
Het |
| Rrp1b |
T |
G |
17: 32,274,278 (GRCm39) |
|
probably benign |
Het |
| Sec62 |
A |
G |
3: 30,864,609 (GRCm39) |
T158A |
probably benign |
Het |
| Sema6a |
G |
A |
18: 47,412,236 (GRCm39) |
T526I |
probably benign |
Het |
| Shank1 |
G |
T |
7: 44,003,110 (GRCm39) |
A1610S |
probably benign |
Het |
| Slc24a4 |
T |
C |
12: 102,185,259 (GRCm39) |
V123A |
probably damaging |
Het |
| Stk11ip |
T |
C |
1: 75,509,013 (GRCm39) |
V714A |
probably benign |
Het |
| Tas1r3 |
T |
C |
4: 155,945,257 (GRCm39) |
T655A |
probably damaging |
Het |
| Tns2 |
G |
T |
15: 102,011,551 (GRCm39) |
L10F |
probably damaging |
Het |
| Trmt10c |
A |
G |
16: 55,854,489 (GRCm39) |
V382A |
probably benign |
Het |
| Unc45a |
G |
C |
7: 79,986,746 (GRCm39) |
T149R |
probably damaging |
Het |
| Zhx3 |
T |
G |
2: 160,623,640 (GRCm39) |
I176L |
probably damaging |
Het |
| Zscan12 |
T |
A |
13: 21,552,966 (GRCm39) |
C263* |
probably null |
Het |
|
| Other mutations in Cyp26a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01098:Cyp26a1
|
APN |
19 |
37,688,450 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTACAGTATCTGTGACACCCAC -3'
(R):5'- ACCACGGGACTGTAGTAGAGAC -3'
Sequencing Primer
(F):5'- CACGATGTGGCAGATATCTTCAC -3'
(R):5'- TTGTCCACAGGGTACACA -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation