Mutagenetix > Incidental Mutation

Incidental Mutation 'R9674:Cyp26a1'

728281

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9674 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

37686246-37689984 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 37689726 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 474 (M474K)

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: M474K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000025946
Gene: ENSMUSG00000024987
AA Change: M474K

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2	A	T	3: 59,914,472 (GRCm39)	D25V	possibly damaging	Het
Abca16	A	G	7: 120,074,668 (GRCm39)		probably null	Het
Adam9	T	A	8: 25,441,014 (GRCm39)	T820S	possibly damaging	Het
Adamts6	G	A	13: 104,563,448 (GRCm39)	V647I	probably benign	Het
Afap1l2	T	A	19: 56,922,195 (GRCm39)	R14S	probably damaging	Het
Aff3	C	T	1: 38,248,864 (GRCm39)	V748I	probably damaging	Het
Aldh5a1	T	C	13: 25,110,038 (GRCm39)	I166V	probably benign	Het
Alx4	G	T	2: 93,507,858 (GRCm39)	L384F	probably damaging	Het
Ank3	T	A	10: 69,824,549 (GRCm39)	S1073T		Het
Ankrd50	A	G	3: 38,506,574 (GRCm39)	C275R	unknown	Het
Apol11a	G	A	15: 77,401,347 (GRCm39)	S278N	possibly damaging	Het
Astn2	T	A	4: 65,460,963 (GRCm39)	D1057V	probably damaging	Het
Atp11a	T	C	8: 12,877,525 (GRCm39)	V317A	probably benign	Het
Cacna1i	A	G	15: 80,264,629 (GRCm39)	T1486A	probably damaging	Het
Cadps	A	G	14: 12,454,291 (GRCm38)	F1076L	probably damaging	Het
Cct6b	T	C	11: 82,645,838 (GRCm39)	T154A	probably damaging	Het
Cfap69	A	G	5: 5,697,021 (GRCm39)	F92L	possibly damaging	Het
Cyp19a1	A	T	9: 54,074,141 (GRCm39)	I471K	possibly damaging	Het
Cyp4a12a	T	C	4: 115,186,156 (GRCm39)	S439P	probably benign	Het
Cyp4f37	T	A	17: 32,846,841 (GRCm39)		probably null	Het
Dgki	A	G	6: 37,027,157 (GRCm39)	Y395H	probably damaging	Het
Dlg1	T	C	16: 31,610,580 (GRCm39)	V287A	probably damaging	Het
Dlx2	C	T	2: 71,376,496 (GRCm39)	G81S	possibly damaging	Het
Dnah8	G	T	17: 30,998,112 (GRCm39)	K3448N	possibly damaging	Het
Dnhd1	C	T	7: 105,363,429 (GRCm39)	P3997L	probably damaging	Het
Drosha	C	G	15: 12,890,170 (GRCm39)	D910E	probably damaging	Het
Dscam	A	G	16: 96,442,036 (GRCm39)	V1597A	probably benign	Het
Eif1b	A	G	9: 120,323,265 (GRCm39)	K42E	possibly damaging	Het
Enpp2	C	A	15: 54,816,135 (GRCm39)	G10W	unknown	Het
Exd2	A	G	12: 80,536,372 (GRCm39)	N334S	probably benign	Het
Glt6d1	T	A	2: 25,684,382 (GRCm39)	N208I	probably benign	Het
Grin2a	T	A	16: 9,471,265 (GRCm39)	K668*	probably null	Het
Grm1	A	G	10: 10,609,028 (GRCm39)	V535A	possibly damaging	Het
H2ac7	A	G	13: 23,758,862 (GRCm39)	D73G	possibly damaging	Het
Hey2	A	T	10: 30,710,413 (GRCm39)	D113E	probably benign	Het
Ighm	T	A	12: 113,385,139 (GRCm39)	I274F		Het
Ighv1-58	G	T	12: 115,275,847 (GRCm39)	T97K	probably damaging	Het
Igkv6-20	T	C	6: 70,312,852 (GRCm39)	H107R	possibly damaging	Het
Il15	C	T	8: 83,069,938 (GRCm39)	G42D	probably damaging	Het
Jakmip2	T	A	18: 43,704,961 (GRCm39)	M347L	probably benign	Het
Kcnh7	T	C	2: 62,595,060 (GRCm39)	Y670C	probably damaging	Het
Ktn1	G	C	14: 47,922,213 (GRCm39)	C458S	possibly damaging	Het
Lama5	C	T	2: 179,840,267 (GRCm39)		probably null	Het
Lce1i	T	C	3: 92,685,113 (GRCm39)	Q21R	unknown	Het
Lmo7	A	T	14: 102,078,340 (GRCm39)	E81D	probably damaging	Het
Lrrc4b	A	T	7: 44,111,852 (GRCm39)	I575F	probably damaging	Het
Mmrn1	C	T	6: 60,948,072 (GRCm39)	Q272*	probably null	Het
Nbea	A	T	3: 55,966,183 (GRCm39)	D426E	probably damaging	Het
Neto1	G	A	18: 86,491,827 (GRCm39)	V243M	probably damaging	Het
Notch1	G	A	2: 26,361,308 (GRCm39)	R1061C	probably damaging	Het
Or5g25	T	G	2: 85,478,593 (GRCm39)	Q24P	possibly damaging	Het
Or5p67	A	T	7: 107,922,271 (GRCm39)	I204N	probably benign	Het
Osgin1	A	G	8: 120,172,499 (GRCm39)	D431G	possibly damaging	Het
Ppp4r1	A	G	17: 66,140,127 (GRCm39)	D675G	probably damaging	Het
Pramel25	T	A	4: 143,520,162 (GRCm39)	H135Q	probably benign	Het
Prkdc	T	A	16: 15,533,819 (GRCm39)	H1552Q	probably damaging	Het
Rbfox1	T	C	16: 7,170,885 (GRCm39)	F282L	probably benign	Het
Ret	T	C	6: 118,130,830 (GRCm39)	D1111G	probably damaging	Het
Rnf224	A	T	2: 25,126,330 (GRCm39)	Y8N	probably benign	Het
Rtl1	G	T	12: 109,559,024 (GRCm39)	H938Q	possibly damaging	Het
Sec23ip	T	G	7: 128,380,187 (GRCm39)	D867E	probably damaging	Het
Sema3f	A	T	9: 107,566,947 (GRCm39)	L194Q	possibly damaging	Het
Sfmbt1	C	T	14: 30,495,851 (GRCm39)	R45C	probably damaging	Het
Slc7a4	T	C	16: 17,392,208 (GRCm39)	I409V	probably benign	Het
Slco6c1	T	A	1: 97,047,565 (GRCm39)	D246V	probably damaging	Het
Smap2	C	T	4: 120,826,745 (GRCm39)	M426I	probably benign	Het
Spata31h1	C	T	10: 82,120,030 (GRCm39)	V4327I	possibly damaging	Het
Tmem184b	T	A	15: 79,249,524 (GRCm39)	T315S	probably benign	Het
Trpm4	A	T	7: 44,982,811 (GRCm39)	D30E	possibly damaging	Het
Ttc7b	T	A	12: 100,432,553 (GRCm39)	K154N	probably benign	Het
Vps13b	T	A	15: 35,607,380 (GRCm39)	H1104Q	probably damaging	Het
Wnk4	T	A	11: 101,166,874 (GRCm39)	L1010Q	unknown	Het
Xpo6	T	A	7: 125,723,700 (GRCm39)	H537L	probably benign	Het
Xrn1	A	T	9: 95,855,645 (GRCm39)	Y314F	probably damaging	Het
Xrn1	A	T	9: 95,855,647 (GRCm39)	I315F	possibly damaging	Het
Zap70	T	C	1: 36,810,150 (GRCm39)	Y87H	probably benign	Het
Zbtb4	T	C	11: 69,669,973 (GRCm39)	Y899H	probably damaging	Het
Zcchc7	T	A	4: 44,931,418 (GRCm39)	H202Q	possibly damaging	Het
Zeb2	A	G	2: 44,891,725 (GRCm39)	Y276H	probably damaging	Het
Zfp867	T	G	11: 59,355,850 (GRCm39)	Q68P	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- CAAGGAGGAATTTAATCCCGACC -3'
(R):5'- TATTTAAGACCACGGGACTGTAG -3'

Sequencing Primer
(F):5'- AATCCCGACCGCTTTATAGTG -3'
(R):5'- CCACGGGACTGTAGTAGAGACAC -3'

Posted On

2022-10-06