Mutagenetix > Incidental Mutation

Incidental Mutation 'R7877:Cyp51'

608485

Institutional Source

Beutler Lab

Gene Symbol

Cyp51

Ensembl Gene

ENSMUSG00000001467

Gene Name

cytochrome P450, family 51

Synonyms

MMRRC Submission

045929-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7877 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

4131145-4154746 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 4152929 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Methionine at position 91 (K91M)

Ref Sequence

ENSEMBL: ENSMUSP00000001507 (fasta)

Gene Model

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

AlphaFold

Q8K0C4

Predicted Effect

probably damaging
Transcript: ENSMUST00000001507
AA Change: K91M

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

SMART Domains

Protein: ENSMUSP00000001507
Gene: ENSMUSG00000001467
AA Change: K91M

Domain	Start	End	E-Value	Type
transmembrane domain	21	43	N/A	INTRINSIC
Pfam:p450	61	496	1.9e-76	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 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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	G	A	17: 9,220,665 (GRCm39)	C388Y	probably damaging	Het
4930522L14Rik	G	A	5: 109,884,230 (GRCm39)	H543Y	probably damaging	Het
Abca1	A	T	4: 53,046,135 (GRCm39)	V1711E	possibly damaging	Het
Abca3	A	T	17: 24,602,997 (GRCm39)	K531*	probably null	Het
Adgrf5	A	T	17: 43,752,729 (GRCm39)	D557V	possibly damaging	Het
Adgrl3	A	G	5: 81,842,467 (GRCm39)	E865G	probably benign	Het
Adprhl1	T	A	8: 13,275,316 (GRCm39)	R481*	probably null	Het
Afap1l1	T	A	18: 61,879,853 (GRCm39)	D339V	probably damaging	Het
Atp9b	T	A	18: 80,890,412 (GRCm39)	H309L		Het
Baiap3	A	G	17: 25,470,112 (GRCm39)	V122A	probably damaging	Het
Btg4	T	C	9: 51,029,240 (GRCm39)	S142P	probably benign	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Cdca2	T	A	14: 67,914,665 (GRCm39)	T865S	probably benign	Het
Cdk12	A	G	11: 98,131,661 (GRCm39)	Y964C	unknown	Het
Cenpo	A	T	12: 4,264,573 (GRCm39)	F273Y	probably damaging	Het
Cfap96	T	A	8: 46,423,436 (GRCm39)	K92M	probably damaging	Het
Chac1	T	A	2: 119,183,987 (GRCm39)	D196E	probably damaging	Het
Clec4n	T	C	6: 123,209,063 (GRCm39)	F43L	probably benign	Het
Colgalt1	T	A	8: 72,074,508 (GRCm39)	C407S	probably damaging	Het
Csnk1g1	T	A	9: 65,906,830 (GRCm39)		probably null	Het
Cyp2b23	T	A	7: 26,385,851 (GRCm39)	E2V	probably damaging	Het
Cyria	A	C	12: 12,414,798 (GRCm39)	Y263S	probably benign	Het
Dnah8	G	T	17: 30,882,348 (GRCm39)	G640V	probably benign	Het
Dnajc2	G	T	5: 21,965,637 (GRCm39)	S505R	possibly damaging	Het
Fam124b	A	T	1: 80,191,053 (GRCm39)	L110H	probably damaging	Het
Fem1b	T	A	9: 62,703,844 (GRCm39)	Y472F	probably benign	Het
Frem1	A	G	4: 82,932,049 (GRCm39)		probably null	Het
Gabrg1	A	T	5: 70,973,415 (GRCm39)	D46E	probably damaging	Het
Gbp4	T	C	5: 105,266,161 (GRCm39)	K627E	probably benign	Het
Glis1	A	G	4: 107,491,900 (GRCm39)	D776G	probably damaging	Het
Gm4847	A	G	1: 166,467,575 (GRCm39)	V207A	possibly damaging	Het
Gm7298	T	A	6: 121,759,741 (GRCm39)	Y1213*	probably null	Het
Gm8229	T	A	14: 44,604,033 (GRCm39)	L74*	probably null	Het
Hc	A	T	2: 34,887,411 (GRCm39)	Y1364*	probably null	Het
Hnrnpa2b1	A	T	6: 51,443,302 (GRCm39)	S186R	unknown	Het
Hrh4	A	G	18: 13,155,582 (GRCm39)	I374V	possibly damaging	Het
Ighmbp2	A	G	19: 3,311,490 (GRCm39)	L975P	probably damaging	Het
Intu	G	A	3: 40,654,222 (GRCm39)	V905I	probably benign	Het
Large1	T	A	8: 73,843,071 (GRCm39)	R151W	probably damaging	Het
Limd2	G	A	11: 106,050,004 (GRCm39)	T24M	probably benign	Het
Med16	A	T	10: 79,734,206 (GRCm39)	C569*	probably null	Het
Mettl1	T	G	10: 126,880,390 (GRCm39)	V104G	possibly damaging	Het
Mgat4c	A	G	10: 102,220,900 (GRCm39)	T61A	probably benign	Het
Mrps31	T	A	8: 22,914,367 (GRCm39)	Y238N	probably benign	Het
Mrs2	T	C	13: 25,181,113 (GRCm39)	E236G	probably damaging	Het
Muc5ac	G	C	7: 141,363,040 (GRCm39)	G2117A	unknown	Het
Noxred1	G	A	12: 87,271,761 (GRCm39)	A136V	probably benign	Het
Obscn	T	A	11: 59,024,588 (GRCm39)	D484V	probably damaging	Het
Picalm	C	A	7: 89,779,876 (GRCm39)	H32Q	probably benign	Het
Pik3r5	G	A	11: 68,381,431 (GRCm39)	G206R	probably damaging	Het
Plekhh2	G	A	17: 84,882,434 (GRCm39)	C680Y	probably benign	Het
Plxna1	A	G	6: 89,300,241 (GRCm39)	F1614S	probably damaging	Het
Ppip5k1	T	C	2: 121,147,235 (GRCm39)	M1129V	probably benign	Het
Prp2	C	T	6: 132,572,928 (GRCm39)	T7I	unknown	Het
Rrbp1	A	T	2: 143,789,815 (GRCm39)		probably benign	Het
Sdhaf3	C	T	6: 7,038,855 (GRCm39)	T59M	probably benign	Het
Slc17a6	T	A	7: 51,275,253 (GRCm39)	I104N	probably benign	Het
Slc35c1	A	T	2: 92,289,402 (GRCm39)	W48R	probably damaging	Het
Slc5a4b	A	T	10: 75,910,886 (GRCm39)	C317S	probably damaging	Het
Smim13	G	T	13: 41,403,650 (GRCm39)		probably benign	Het
Snrpg	T	C	6: 86,355,761 (GRCm39)	V76A	probably benign	Het
Sntb2	C	T	8: 107,738,164 (GRCm39)	T509I	probably benign	Het
Sptbn1	T	C	11: 30,079,601 (GRCm39)	D1276G	possibly damaging	Het
Sptbn2	A	G	19: 4,794,290 (GRCm39)	E1498G	possibly damaging	Het
Stau1	T	A	2: 166,792,787 (GRCm39)	N393Y	possibly damaging	Het
Tars2	A	T	3: 95,653,401 (GRCm39)	S500T	probably damaging	Het
Tbc1d23	A	T	16: 56,993,488 (GRCm39)	D559E	probably benign	Het
Trav14-2	T	C	14: 53,878,508 (GRCm39)	Y64H	possibly damaging	Het
Trpm3	A	C	19: 22,882,148 (GRCm39)	E838D	probably benign	Het
Vmn1r23	G	A	6: 57,903,541 (GRCm39)	A79V	probably benign	Het
Vmn1r48	G	T	6: 90,013,431 (GRCm39)	N131K	probably benign	Het
Vmn2r18	A	T	5: 151,508,437 (GRCm39)	M229K	probably damaging	Het
Zbtb4	G	A	11: 69,666,863 (GRCm39)	R56K	probably benign	Het
Zfp616	G	T	11: 73,975,188 (GRCm39)	G486W	probably damaging	Het
Zkscan8	A	T	13: 21,704,580 (GRCm39)	F453Y	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
R0535:Cyp51	UTSW	5	4,149,202 (GRCm39)	missense	probably benign	0.00
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
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'- TCAGAGACTATATCCCAGGACAGAC -3'
(R):5'- TGCAGTGCCTTCCTGTGTAG -3'

Sequencing Primer
(F):5'- CACTCTGGGAAGCTAAGAGCC -3'
(R):5'- ACCTTGTCTAACTATACTGTGTGTG -3'

Posted On

2019-12-20