Mutagenetix > Incidental Mutation

Incidental Mutation 'R0535:Cyp51'

49406

Institutional Source

Beutler Lab

Gene Symbol

Cyp51

Ensembl Gene

ENSMUSG00000001467

Gene Name

cytochrome P450, family 51

Synonyms

MMRRC Submission

038727-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0535 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4131145-4154746 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4149202 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 225 (Q225R)

Ref Sequence

ENSEMBL: ENSMUSP00000001507 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001507]

AlphaFold

Q8K0C4

Predicted Effect

probably benign
Transcript: ENSMUST00000001507
AA Change: Q225R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000001507
Gene: ENSMUSG00000001467
AA Change: Q225R

Domain	Start	End	E-Value	Type
transmembrane domain	21	43	N/A	INTRINSIC
Pfam:p450	61	496	1.9e-76	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129448

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151539

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199909

Meta Mutation Damage Score

0.0589

Coding Region Coverage

1x: 99.6%
3x: 98.9%
10x: 97.0%
20x: 94.2%

Validation Efficiency

96% (52/54)

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 participates in the synthesis of cholesterol by catalyzing the removal of the 14alpha-methyl group from lanosterol. Homologous genes are found in all three eukaryotic phyla, fungi, plants, and animals, suggesting that this is one of the oldest cytochrome P450 genes. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit skeletal and craniofacial abnormalities and die at late midgestation due to heart failure resulting from cardiac hypoplasia, ventricle septum, epicardial and vasculogenesis defects. [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
Aatk	A	G	11: 119,901,019 (GRCm39)	S1069P	probably benign	Het
Acmsd	A	T	1: 127,693,680 (GRCm39)	I305L	probably benign	Het
Aco2	G	A	15: 81,797,418 (GRCm39)	E625K	possibly damaging	Het
Acox1	G	A	11: 116,065,264 (GRCm39)	T561I	possibly damaging	Het
Acox2	T	A	14: 8,256,753 (GRCm38)	T37S	probably damaging	Het
Apc	A	T	18: 34,394,125 (GRCm39)	K17M	probably damaging	Het
Cant1	T	C	11: 118,301,969 (GRCm39)	D116G	probably damaging	Het
Col11a1	A	G	3: 113,855,184 (GRCm39)	E148G	unknown	Het
E2f8	T	C	7: 48,521,558 (GRCm39)		probably benign	Het
Fam163b	T	C	2: 27,002,778 (GRCm39)	Y73C	probably benign	Het
Fbxw9	T	C	8: 85,791,229 (GRCm39)	C271R	probably damaging	Het
Gbp10	T	C	5: 105,368,877 (GRCm39)	N321D	possibly damaging	Het
Gle1	T	C	2: 29,847,817 (GRCm39)	F675L	probably damaging	Het
Gm6327	T	C	16: 12,578,241 (GRCm39)		noncoding transcript	Het
Gphn	T	A	12: 78,538,824 (GRCm39)	F157I	possibly damaging	Het
Gtpbp1	A	T	15: 79,591,933 (GRCm39)	T94S	probably damaging	Het
Hdac2	T	C	10: 36,869,895 (GRCm39)	F286L	probably benign	Het
Ighv3-6	A	T	12: 114,252,090 (GRCm39)		probably benign	Het
Itga2b	A	G	11: 102,348,359 (GRCm39)	V791A	possibly damaging	Het
Itgb4	A	T	11: 115,881,835 (GRCm39)	I796F	possibly damaging	Het
Kel	T	C	6: 41,667,772 (GRCm39)	K390R	probably null	Het
Krt42	C	T	11: 100,155,412 (GRCm39)	C368Y	probably damaging	Het
Lancl1	A	G	1: 67,049,065 (GRCm39)		probably benign	Het
Lipg	A	G	18: 75,087,291 (GRCm39)	Y177H	probably damaging	Het
Lnpep	T	C	17: 17,791,935 (GRCm39)	E402G	possibly damaging	Het
Ltbp2	A	G	12: 84,837,826 (GRCm39)	F1185L	probably damaging	Het
Ltbp2	A	T	12: 84,831,632 (GRCm39)	I1727N	probably damaging	Het
Mettl22	T	C	16: 8,302,210 (GRCm39)		probably benign	Het
Mtcl2	T	C	2: 156,875,209 (GRCm39)	E847G	possibly damaging	Het
Mug1	G	A	6: 121,828,413 (GRCm39)	G275E	probably benign	Het
Nell2	T	A	15: 95,329,488 (GRCm39)	T278S	probably benign	Het
Nomo1	T	A	7: 45,721,941 (GRCm39)	S961T	probably damaging	Het
Or5ak22	A	G	2: 85,230,439 (GRCm39)	L146P	possibly damaging	Het
Pcare	A	G	17: 72,059,434 (GRCm39)	V81A	probably benign	Het
Phf2	A	G	13: 48,967,423 (GRCm39)	Y675H	unknown	Het
Phldb2	A	G	16: 45,577,490 (GRCm39)	V1145A	probably damaging	Het
Phrf1	T	C	7: 140,839,978 (GRCm39)	S1058P	probably benign	Het
Prss3	T	C	6: 41,351,903 (GRCm39)	N120S	probably benign	Het
Reln	G	T	5: 22,256,274 (GRCm39)		probably benign	Het
Spag5	A	G	11: 78,195,554 (GRCm39)	Y287C	probably benign	Het
Syde2	G	A	3: 145,694,925 (GRCm39)		probably null	Het
Synj1	C	A	16: 90,744,975 (GRCm39)	V1190F	possibly damaging	Het
Taok1	A	T	11: 77,444,530 (GRCm39)	I515N	probably benign	Het
Tmem259	A	T	10: 79,814,429 (GRCm39)	V309E	probably damaging	Het
Tmem62	T	A	2: 120,833,077 (GRCm39)	V494E	possibly damaging	Het
Trak1	A	T	9: 121,272,778 (GRCm39)	E119V	probably null	Het
Vmn1r1	T	A	1: 181,985,516 (GRCm39)	I50L	probably benign	Het
Vps35l	T	C	7: 118,347,404 (GRCm39)	F118S	possibly damaging	Het
Xpc	C	T	6: 91,481,560 (GRCm39)	V254I	possibly damaging	Het
Zfp58	G	A	13: 67,640,201 (GRCm39)	Q97*	probably null	Het
Zscan5b	A	G	7: 6,236,911 (GRCm39)	E220G	possibly damaging	Het

Other mutations in Cyp51

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02045:Cyp51	APN	5	4,133,247 (GRCm39)	missense	probably damaging	1.00
IGL02047:Cyp51	APN	5	4,149,244 (GRCm39)	missense	possibly damaging	0.86
IGL02191:Cyp51	APN	5	4,150,147 (GRCm39)	missense	probably benign	0.05
IGL02492:Cyp51	APN	5	4,154,304 (GRCm39)	missense	probably benign	0.01
IGL03209:Cyp51	APN	5	4,154,195 (GRCm39)	missense	probably damaging	1.00
PIT4515001:Cyp51	UTSW	5	4,149,122 (GRCm39)	critical splice donor site	probably null
PIT4520001:Cyp51	UTSW	5	4,151,200 (GRCm39)	missense	probably damaging	1.00
R2048:Cyp51	UTSW	5	4,136,636 (GRCm39)	splice site	probably benign
R2165:Cyp51	UTSW	5	4,136,594 (GRCm39)	missense	probably damaging	1.00
R2851:Cyp51	UTSW	5	4,149,183 (GRCm39)	missense	probably damaging	1.00
R3975:Cyp51	UTSW	5	4,141,877 (GRCm39)	missense	probably damaging	0.97
R4799:Cyp51	UTSW	5	4,133,256 (GRCm39)	missense	probably damaging	1.00
R5699:Cyp51	UTSW	5	4,151,213 (GRCm39)	missense	probably damaging	1.00
R6163:Cyp51	UTSW	5	4,150,199 (GRCm39)	missense	probably damaging	1.00
R6484:Cyp51	UTSW	5	4,136,627 (GRCm39)	missense	probably benign	0.07
R7046:Cyp51	UTSW	5	4,150,188 (GRCm39)	missense	probably damaging	1.00
R7155:Cyp51	UTSW	5	4,137,846 (GRCm39)	missense	possibly damaging	0.90
R7877:Cyp51	UTSW	5	4,152,929 (GRCm39)	missense	probably damaging	1.00
R7904:Cyp51	UTSW	5	4,150,173 (GRCm39)	missense	probably damaging	0.99
R8094:Cyp51	UTSW	5	4,136,490 (GRCm39)	missense	probably benign	0.08
R8095:Cyp51	UTSW	5	4,136,490 (GRCm39)	missense	probably benign	0.08
R8938:Cyp51	UTSW	5	4,150,202 (GRCm39)	missense	probably benign	0.00
R8963:Cyp51	UTSW	5	4,136,519 (GRCm39)	missense	probably damaging	0.98
R9097:Cyp51	UTSW	5	4,149,172 (GRCm39)	missense	possibly damaging	0.78
R9173:Cyp51	UTSW	5	4,136,504 (GRCm39)	missense	probably benign
R9416:Cyp51	UTSW	5	4,150,198 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- AAATGGAAGCTCCTGATGTGCCC -3'
(R):5'- GTCTAAAGCAAAACTGTGAAGCGCC -3'

Sequencing Primer
(F):5'- CTGATGTGCCCAAATTAGGAAGC -3'
(R):5'- GTTTGAAGCACTGTCTGAGCT -3'

Posted On

2013-06-12