Mutagenetix > Incidental Mutation

Incidental Mutation 'R1831:Cyp26a1'

207379

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

039858-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1831 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37686246-37689984 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 37689071 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 335 (L335F)

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: L335F

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000025946
Gene: ENSMUSG00000024987
AA Change: L335F

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: 97.5%
3x: 96.9%
10x: 95.2%
20x: 92.2%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700109H08Rik	A	G	5: 3,627,255 (GRCm39)	D77G	probably damaging	Het
Adam1b	A	G	5: 121,641,000 (GRCm39)	I15T	possibly damaging	Het
Arfgef1	G	C	1: 10,275,115 (GRCm39)	I312M	probably benign	Het
Capn8	G	A	1: 182,438,666 (GRCm39)		probably null	Het
Carmil1	A	T	13: 24,348,862 (GRCm39)	V15E	probably benign	Het
Ccdc42	T	A	11: 68,481,805 (GRCm39)	M133K	probably benign	Het
Cd5	T	C	19: 10,696,933 (GRCm39)	D485G	probably damaging	Het
Cdhr18	A	G	14: 13,899,619 (GRCm38)	I101T	probably damaging	Het
Cep104	T	A	4: 154,087,003 (GRCm39)	V842E	probably benign	Het
Cep162	T	A	9: 87,088,985 (GRCm39)	I966L	probably damaging	Het
Cklf	T	C	8: 104,977,687 (GRCm39)	F13S	probably damaging	Het
Csf2rb	C	T	15: 78,232,453 (GRCm39)	P587S	probably benign	Het
Cyp21a1	A	T	17: 35,023,009 (GRCm39)		probably benign	Het
Dcst1	A	G	3: 89,260,057 (GRCm39)	F596L	probably damaging	Het
Dennd6a	T	A	14: 26,328,109 (GRCm39)	L44H	probably damaging	Het
Dnah6	G	A	6: 73,158,780 (GRCm39)	R608C	possibly damaging	Het
Dnajb5	A	T	4: 42,957,333 (GRCm39)	T311S	probably benign	Het
Dthd1	A	G	5: 62,984,572 (GRCm39)	T426A	probably benign	Het
Dync1h1	A	G	12: 110,580,493 (GRCm39)	K118R	probably damaging	Het
Efemp1	A	T	11: 28,871,442 (GRCm39)	D347V	possibly damaging	Het
Ephb4	T	A	5: 137,352,677 (GRCm39)	Y87N	probably damaging	Het
Ern1	A	T	11: 106,290,668 (GRCm39)		probably null	Het
Fam184a	A	T	10: 53,523,180 (GRCm39)	D164E	probably damaging	Het
Fkbp10	A	G	11: 100,314,045 (GRCm39)	E351G	probably damaging	Het
Fmn2	A	G	1: 174,437,511 (GRCm39)	S1161G	probably benign	Het
Frem1	A	G	4: 82,939,074 (GRCm39)	S3P	possibly damaging	Het
Gpr3	C	T	4: 132,938,454 (GRCm39)	A73T	possibly damaging	Het
Gprc6a	T	C	10: 51,491,902 (GRCm39)	T616A	probably benign	Het
Gtf3c2	G	T	5: 31,325,713 (GRCm39)	Q452K	probably damaging	Het
H2-Q7	C	A	17: 35,658,675 (GRCm39)	S104R	probably benign	Het
Hacd2	T	C	16: 34,922,434 (GRCm39)	Y208H	probably damaging	Het
Hid1	C	T	11: 115,239,729 (GRCm39)	G734R	probably damaging	Het
Ifi207	A	G	1: 173,559,992 (GRCm39)	I160T	unknown	Het
Itga11	T	A	9: 62,689,300 (GRCm39)	L1155Q	probably damaging	Het
Kmt2d	A	G	15: 98,753,224 (GRCm39)	S157P	probably damaging	Het
Lamb3	A	G	1: 193,017,187 (GRCm39)	T793A	probably damaging	Het
Lonrf2	G	A	1: 38,852,357 (GRCm39)	P165S	probably benign	Het
Lrrc66	G	A	5: 73,764,769 (GRCm39)	S758L	possibly damaging	Het
Ltn1	C	T	16: 87,197,034 (GRCm39)	S1213N	possibly damaging	Het
Meak7	T	C	8: 120,497,992 (GRCm39)	M171V	probably null	Het
Med1	T	C	11: 98,047,437 (GRCm39)		probably benign	Het
Megf6	C	T	4: 154,355,134 (GRCm39)	T1483M	probably benign	Het
Micall2	A	G	5: 139,702,508 (GRCm39)	V245A	probably benign	Het
Mipep	T	G	14: 61,109,512 (GRCm39)	Y630D	probably damaging	Het
Ndst3	T	A	3: 123,395,127 (GRCm39)	H501L	probably benign	Het
Nek10	A	T	14: 14,842,789 (GRCm38)	M165L	probably benign	Het
Nmbr	C	A	10: 14,642,609 (GRCm39)	T56K	probably benign	Het
Nxpe2	T	A	9: 48,237,452 (GRCm39)	M268L	probably benign	Het
Oasl2	A	G	5: 115,039,367 (GRCm39)	Y185C	probably benign	Het
Ogdhl	T	A	14: 32,059,484 (GRCm39)	V377E	probably damaging	Het
Or11g1	T	A	14: 50,651,658 (GRCm39)		probably null	Het
Or14j4	G	A	17: 37,920,730 (GRCm39)	S304L	possibly damaging	Het
Ovgp1	A	G	3: 105,892,384 (GRCm39)	R346G	probably benign	Het
Parp14	T	A	16: 35,678,958 (GRCm39)	N337Y	possibly damaging	Het
Pask	A	C	1: 93,248,491 (GRCm39)		probably null	Het
Pax3	G	T	1: 78,108,977 (GRCm39)	T227K	probably damaging	Het
Pik3r6	T	A	11: 68,434,860 (GRCm39)	M594K	probably benign	Het
Pms1	A	G	1: 53,246,370 (GRCm39)	F390L	probably benign	Het
Polg	G	A	7: 79,109,518 (GRCm39)	T433I	probably benign	Het
Prex1	T	C	2: 166,427,021 (GRCm39)	Y898C	probably damaging	Het
Ranbp2	T	A	10: 58,315,044 (GRCm39)	C1921*	probably null	Het
Rif1	T	A	2: 51,968,507 (GRCm39)	L230*	probably null	Het
Rnf148	A	G	6: 23,654,772 (GRCm39)	F75L	probably damaging	Het
Rps18-ps6	A	G	13: 97,897,053 (GRCm39)	V15A	probably benign	Het
Sclt1	A	G	3: 41,681,546 (GRCm39)	V91A	probably damaging	Het
Sirt1	T	C	10: 63,156,425 (GRCm39)	D735G	probably benign	Het
Spag5	T	A	11: 78,205,082 (GRCm39)	N622K	probably benign	Het
Sspo	T	G	6: 48,466,720 (GRCm39)	C3935W	probably damaging	Het
Strbp	A	G	2: 37,515,277 (GRCm39)	S250P	possibly damaging	Het
Tgfbr2	T	C	9: 115,919,604 (GRCm39)	T541A	possibly damaging	Het
Thada	A	C	17: 84,538,542 (GRCm39)	S1489A	probably damaging	Het
Tiam1	A	T	16: 89,657,182 (GRCm39)	S685T	probably benign	Het
Tpsb2	T	A	17: 25,585,494 (GRCm39)		probably null	Het
Trip4	C	A	9: 65,765,622 (GRCm39)	G359V	probably damaging	Het
Tsr1	T	C	11: 74,791,182 (GRCm39)	F254L	probably benign	Het
Vmn1r120	T	C	7: 20,787,556 (GRCm39)	K52E	probably benign	Het
Vmn1r29	C	A	6: 58,284,692 (GRCm39)	Y137*	probably null	Het
Vmn2r52	T	C	7: 9,893,415 (GRCm39)	K575E	probably damaging	Het
Wdr95	A	G	5: 149,475,891 (GRCm39)	Y63C	probably damaging	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
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

Predicted Primers

PCR Primer
(F):5'- GCAACATTGTCTGGATAATGGG -3'
(R):5'- CTCAACAGCATAGCAGAGTGG -3'

Sequencing Primer
(F):5'- CAACATTGTCTGGATAATGGGTTTAG -3'
(R):5'- CATAGCAGAGTGGACGTGGAC -3'

Posted On

2014-06-23