Mutagenetix > Incidental Mutations

Incidental Mutation 'R5964:Cyp26a1'

471992

Institutional Source

Beutler Lab

Gene Symbol

Cyp26a1

Ensembl Gene

ENSMUSG00000024987

Gene Name

cytochrome P450, family 26, subfamily a, polypeptide 1

Synonyms

Cyp26, P450RA, P450RAI, retinoic acid hydrolase, RAH

MMRRC Submission

044149-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5964 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37697808-37701528 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 37699962 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 311 (S311A)

Ref Sequence

ENSEMBL: ENSMUSP00000025946 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025946]

Predicted Effect

probably damaging
Transcript: ENSMUST00000025946
AA Change: S311A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000025946
Gene: ENSMUSG00000024987
AA Change: S311A

Domain	Start	End	E-Value	Type
transmembrane domain	5	27	N/A	INTRINSIC
Pfam:p450	45	487	2.4e-68	PFAM

Meta Mutation Damage Score

0.2263

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.2%

Validation Efficiency

96% (87/91)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam15	G	A	3: 89,343,567	Q581*	probably null	Het
Agl	A	G	3: 116,793,774	V44A	probably damaging	Het
Alpk3	T	A	7: 81,092,260	D608E	possibly damaging	Het
Aspm	C	A	1: 139,455,227		probably benign	Het
Bbs2	T	C	8: 94,068,367	N692S	probably benign	Het
Bend4	A	G	5: 67,417,818	I240T	probably benign	Het
Casp8	G	T	1: 58,833,736	R277L	possibly damaging	Het
Ccdc61	A	T	7: 18,900,940	I123N	probably damaging	Het
Ccr9	T	G	9: 123,779,434	I60M	probably benign	Het
Cd163	T	A	6: 124,326,572	W1066R	probably benign	Het
Cd226	A	T	18: 89,207,183	H68L	probably benign	Het
Cdkn3	T	A	14: 46,767,217	C79S	probably null	Het
Cnnm1	A	T	19: 43,469,723	E658V	probably benign	Het
Cog7	T	C	7: 121,956,029	R304G	probably damaging	Het
Cpt1a	T	A	19: 3,365,760	V286E	possibly damaging	Het
Creg2	C	A	1: 39,624,954	R212L	probably benign	Het
Cyp2b10	T	C	7: 25,926,223	Y484H	probably benign	Het
Cyp3a44	T	A	5: 145,788,467	Y308F	possibly damaging	Het
Dlg5	A	G	14: 24,164,089	V744A	probably benign	Het
Dlgap2	T	A	8: 14,727,128	Y124*	probably null	Het
Dnah3	T	C	7: 119,922,880	D4030G	probably benign	Het
Dnah5	A	G	15: 28,458,584	T4456A	possibly damaging	Het
Dtx2	T	A	5: 136,023,699	V347D	probably benign	Het
Gigyf2	C	T	1: 87,407,167	T294M	probably damaging	Het
Gli3	C	G	13: 15,726,162	S1378*	probably null	Het
Gm884	A	G	11: 103,542,120	S1232P	possibly damaging	Het
Gnao1	G	A	8: 93,966,999	D337N	probably benign	Het
Gp2	T	A	7: 119,449,129	Q422L	probably benign	Het
Ifit1	T	A	19: 34,648,469	M335K	possibly damaging	Het
Ism1	T	C	2: 139,678,757	S30P	probably benign	Het
Itgax	A	G	7: 128,140,447	D677G	probably damaging	Het
Kansl1l	G	A	1: 66,725,922	A442V	probably damaging	Het
Kif13a	T	C	13: 46,771,524	I311M	probably damaging	Het
Lsm14b	T	A	2: 180,031,425	S84R	probably benign	Het
Lzts3	A	G	2: 130,636,288	Y297H	probably damaging	Het
Map4k3	A	G	17: 80,644,762	I205T	probably damaging	Het
Matn2	A	T	15: 34,410,165	N501I	probably damaging	Het
Mctp2	T	C	7: 72,103,177	E776G	probably damaging	Het
Mex3d	A	T	10: 80,382,587	N265K	probably damaging	Het
Myo5a	A	G	9: 75,203,833	T1534A	probably benign	Het
Ncoa7	T	C	10: 30,704,636	M35V	probably damaging	Het
Nek4	G	A	14: 30,957,079		probably null	Het
Ngrn	T	C	7: 80,261,933		probably null	Het
Nlrp1a	T	A	11: 71,123,020	Q468L	probably benign	Het
Olfr1450	A	C	19: 12,954,531	Q314P	probably benign	Het
Olfr743	T	A	14: 50,534,198	M262K	probably damaging	Het
Phtf2	T	C	5: 20,775,934	D433G	probably damaging	Het
Prdm13	G	A	4: 21,683,852	Q140*	probably null	Het
Prtg	G	A	9: 72,892,254	G778E	probably benign	Het
Pum3	T	C	19: 27,420,051	E308G	probably damaging	Het
Pwp1	T	G	10: 85,882,886	F306V	probably damaging	Het
Rab24	A	T	13: 55,321,576	Y27N	probably damaging	Het
Rnf215	T	C	11: 4,135,898	F126L	probably benign	Het
Samd13	A	T	3: 146,680,696		probably benign	Het
Serac1	T	A	17: 6,065,049	H213L	probably benign	Het
Slc45a3	A	G	1: 131,978,073	E278G	probably damaging	Het
Slit3	C	T	11: 35,700,236	R1292C	probably damaging	Het
Slx4	A	T	16: 4,000,951		probably null	Het
Smarca4	C	A	9: 21,647,430	T631K	probably benign	Het
Snx16	C	T	3: 10,434,481	R163Q	possibly damaging	Het
Stk40	T	C	4: 126,128,895	V140A	probably damaging	Het
Tcf12	A	T	9: 71,868,240	D409E	probably damaging	Het
Tgfbr2	G	T	9: 116,110,255	T168K	possibly damaging	Het
Ticam1	G	T	17: 56,271,703	H131N	probably damaging	Het
Ttn	C	A	2: 76,713,511	E31298*	probably null	Het
Ttn	C	A	2: 76,829,888	R7458I	possibly damaging	Het
Usp7	A	G	16: 8,712,102	V133A	possibly damaging	Het
Wbp1l	C	T	19: 46,654,180	R191*	probably null	Het
Wdfy4	T	C	14: 33,106,011	E1118G	probably damaging	Het
Zfp81	G	C	17: 33,336,845	P3A	probably damaging	Het
Znhit6	A	G	3: 145,576,933	K21R	possibly damaging	Het

Other mutations in Cyp26a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01098:Cyp26a1	APN	19	37700002	missense	probably benign	0.00
IGL01398:Cyp26a1	APN	19	37697947	missense	probably damaging	1.00
IGL01624:Cyp26a1	APN	19	37698333	missense	possibly damaging	0.94
IGL02398:Cyp26a1	APN	19	37700019	missense	probably benign
IGL02437:Cyp26a1	APN	19	37698495	missense	probably benign
IGL02709:Cyp26a1	APN	19	37699978	missense	probably damaging	1.00
IGL02712:Cyp26a1	APN	19	37699978	missense	probably damaging	1.00
R0834:Cyp26a1	UTSW	19	37699957	missense	probably damaging	0.96
R1517:Cyp26a1	UTSW	19	37698860	missense	probably benign
R1696:Cyp26a1	UTSW	19	37701178	missense	probably benign	0.02
R1831:Cyp26a1	UTSW	19	37700623	missense	probably damaging	0.98
R2040:Cyp26a1	UTSW	19	37698051	missense	possibly damaging	0.46
R2504:Cyp26a1	UTSW	19	37698342	missense	probably damaging	1.00
R4693:Cyp26a1	UTSW	19	37698477	missense	probably benign	0.11
R4808:Cyp26a1	UTSW	19	37701125	missense	probably benign
R5124:Cyp26a1	UTSW	19	37701217	missense	probably benign	0.01
R5412:Cyp26a1	UTSW	19	37701182	missense	probably damaging	1.00
R6355:Cyp26a1	UTSW	19	37698929	missense	possibly damaging	0.46
R6426:Cyp26a1	UTSW	19	37699305	missense	probably benign	0.14
R6501:Cyp26a1	UTSW	19	37699070	missense	possibly damaging	0.80
R6734:Cyp26a1	UTSW	19	37701212	missense	probably damaging	1.00
R7019:Cyp26a1	UTSW	19	37698812	missense	probably damaging	1.00
R7188:Cyp26a1	UTSW	19	37699305	missense	possibly damaging	0.64
R7667:Cyp26a1	UTSW	19	37700624	missense	possibly damaging	0.83
R7694:Cyp26a1	UTSW	19	37701064	missense	possibly damaging	0.80
R8136:Cyp26a1	UTSW	19	37701206	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ACGGATTTTACCCTTGAAGTCTTC -3'
(R):5'- TTCACGAGGTGGAGTCTCTC -3'

Sequencing Primer
(F):5'- CCGTGCAATATTCTCAGGTCAGG -3'
(R):5'- CAGATCTTCACTGTCATAGTACTGGG -3'

Posted On

2017-03-31