Mutagenetix > Incidental Mutation

Incidental Mutation 'R8094:Cyp51'

630061

Institutional Source

Beutler Lab

Gene Symbol

Cyp51

Ensembl Gene

ENSMUSG00000001467

Gene Name

cytochrome P450, family 51

Synonyms

MMRRC Submission

067526-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8094 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

4131145-4154746 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 4136490 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 435 (E435K)

Ref Sequence

ENSEMBL: ENSMUSP00000001507 (fasta)

Gene Model

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

AlphaFold

Q8K0C4

Predicted Effect

probably benign
Transcript: ENSMUST00000001507
AA Change: E435K

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000001507
Gene: ENSMUSG00000001467
AA Change: E435K

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: 99.8%
3x: 99.7%
10x: 99.2%
20x: 98.0%

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A230072I06Rik	T	A	8: 12,329,824 (GRCm39)	L93H	unknown	Het
A2ml1	A	G	6: 128,549,045 (GRCm39)	Y246H	probably damaging	Het
Akap11	C	A	14: 78,750,413 (GRCm39)	C658F		Het
Arid2	T	G	15: 96,266,592 (GRCm39)	S547A	possibly damaging	Het
Atf1	C	A	15: 100,143,170 (GRCm39)	D46E	probably damaging	Het
Brca2	T	A	5: 150,459,634 (GRCm39)	F303Y	possibly damaging	Het
Btbd18	T	A	2: 84,498,260 (GRCm39)	S633T	possibly damaging	Het
Btg4	T	G	9: 51,030,445 (GRCm39)	F182V	probably benign	Het
Cacna1e	G	A	1: 154,437,516 (GRCm39)	S340F	probably damaging	Het
Camta2	A	G	11: 70,576,903 (GRCm39)	W41R	probably damaging	Het
Cbl	A	T	9: 44,074,696 (GRCm39)	D455E	probably benign	Het
Ccdc162	A	T	10: 41,488,864 (GRCm39)	D1208E	probably benign	Het
Cd177	A	T	7: 24,443,842 (GRCm39)	M752K	probably damaging	Het
Cep290	A	T	10: 100,380,793 (GRCm39)	H100L	possibly damaging	Het
Chrnb2	T	A	3: 89,668,698 (GRCm39)	I206F	probably damaging	Het
Cyp2c40	A	G	19: 39,791,009 (GRCm39)	L274S	probably benign	Het
Cyp2c40	T	A	19: 39,791,015 (GRCm39)	Y272F	probably benign	Het
Cyp2d22	C	A	15: 82,258,556 (GRCm39)	A102S	probably benign	Het
Dchs2	T	C	3: 83,262,929 (GRCm39)	F3066L	probably benign	Het
Disp1	C	A	1: 182,869,192 (GRCm39)	R1076L	probably damaging	Het
Dkk2	C	T	3: 131,791,801 (GRCm39)	A3V	probably benign	Het
Dnah7b	T	C	1: 46,165,964 (GRCm39)	F543S	probably benign	Het
Dpt	A	T	1: 164,624,481 (GRCm39)	S61C	probably damaging	Het
Drg2	A	T	11: 60,353,096 (GRCm39)	Y243F	probably damaging	Het
Dsg2	A	G	18: 20,716,061 (GRCm39)		probably benign	Het
Dst	T	G	1: 34,228,040 (GRCm39)	L1878V	possibly damaging	Het
F5	A	G	1: 164,036,509 (GRCm39)	Y1890C	probably benign	Het
Fat1	T	C	8: 45,405,739 (GRCm39)	V830A	probably damaging	Het
Fat2	C	T	11: 55,186,965 (GRCm39)	D1294N	probably benign	Het
Fbxo15	A	G	18: 84,983,618 (GRCm39)	Y322C	probably benign	Het
Fcsk	A	G	8: 111,622,604 (GRCm39)	F108S	probably damaging	Het
Fhit	A	T	14: 10,751,666 (GRCm38)	N7K	unknown	Het
Gabrb2	A	G	11: 42,488,370 (GRCm39)	I279V	probably damaging	Het
Galk2	T	C	2: 125,773,189 (GRCm39)	F207S	probably damaging	Het
Gtpbp3	C	T	8: 71,941,480 (GRCm39)	L17F	possibly damaging	Het
Gucy2c	T	A	6: 136,714,446 (GRCm39)	D460V	probably benign	Het
Herc1	G	A	9: 66,400,462 (GRCm39)	V4329I	probably damaging	Het
Iqcn	T	C	8: 71,162,067 (GRCm39)	V420A	probably benign	Het
Kirrel3	G	A	9: 34,946,460 (GRCm39)	V740M	probably damaging	Het
Macf1	C	A	4: 123,263,660 (GRCm39)	V6956L	probably damaging	Het
Mill1	C	T	7: 17,989,835 (GRCm39)	A39V	probably benign	Het
Mkln1	T	A	6: 31,469,588 (GRCm39)	Y599*	probably null	Het
Mrpl14	T	A	17: 46,009,039 (GRCm39)	L46Q	possibly damaging	Het
Myom2	G	T	8: 15,119,418 (GRCm39)	R103L	possibly damaging	Het
Naip2	A	C	13: 100,298,290 (GRCm39)	I582S	probably benign	Het
Ndst2	A	T	14: 20,778,232 (GRCm39)	V449D	probably damaging	Het
Nell1	T	A	7: 49,770,335 (GRCm39)	H131Q	probably benign	Het
Nos3	G	C	5: 24,572,218 (GRCm39)	R97P	probably benign	Het
Npc1	A	T	18: 12,327,297 (GRCm39)	F1099L	probably benign	Het
Nxpe5	T	A	5: 138,249,802 (GRCm39)	W531R	probably damaging	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Or1j1	A	T	2: 36,702,330 (GRCm39)	L258H	probably damaging	Het
Or4c110	T	C	2: 88,832,712 (GRCm39)		probably benign	Het
Or5b98	A	T	19: 12,931,366 (GRCm39)	T138S	probably benign	Het
Or6c210	A	G	10: 129,495,933 (GRCm39)	D86G	probably damaging	Het
Osmr	T	C	15: 6,845,102 (GRCm39)	N889S	possibly damaging	Het
Oxct2b	A	G	4: 123,010,301 (GRCm39)	I74V	possibly damaging	Het
Pakap	A	G	4: 57,886,319 (GRCm39)	T859A	possibly damaging	Het
Phldb3	C	A	7: 24,326,134 (GRCm39)	A572D	probably damaging	Het
Pigr	A	G	1: 130,774,247 (GRCm39)	E409G	probably damaging	Het
Ptprs	T	C	17: 56,735,947 (GRCm39)	E674G	probably benign	Het
Ptpru	G	A	4: 131,520,903 (GRCm39)	T801I	possibly damaging	Het
Ralgapa1	T	A	12: 55,829,631 (GRCm39)	D200V	probably damaging	Het
Rb1cc1	A	T	1: 6,333,448 (GRCm39)	R1429*	probably null	Het
Rictor	C	T	15: 6,801,635 (GRCm39)	S441L	probably benign	Het
Rnpep	A	T	1: 135,211,514 (GRCm39)	L78Q	probably damaging	Het
Rtn2	A	T	7: 19,027,791 (GRCm39)	I394F	probably damaging	Het
Satb2	A	T	1: 56,870,623 (GRCm39)	V572D	possibly damaging	Het
Sds	T	C	5: 120,617,001 (GRCm39)		probably benign	Het
Serpina10	TTCCTCCTCCTCCTCCTCCTCCTCC	TTCCTCCTCCTCCTCCTCCTCC	12: 103,595,032 (GRCm39)		probably benign	Het
Sgo2a	T	C	1: 58,056,300 (GRCm39)	I828T	possibly damaging	Het
Slc25a33	T	A	4: 149,840,609 (GRCm39)	K79N	probably benign	Het
Slc25a51	A	C	4: 45,399,783 (GRCm39)	F136V	probably benign	Het
Slfn14	T	A	11: 83,174,119 (GRCm39)	K291*	probably null	Het
Sp100	A	G	1: 85,624,819 (GRCm39)	K403E	possibly damaging	Het
Spaca1	C	T	4: 34,049,837 (GRCm39)	E54K	possibly damaging	Het
Sympk	T	G	7: 18,787,373 (GRCm39)		probably null	Het
Syne1	A	T	10: 5,067,031 (GRCm39)	V7078D	probably damaging	Het
Tas2r121	T	A	6: 132,677,772 (GRCm39)	I67L	probably benign	Het
Tha1	T	C	11: 117,759,323 (GRCm39)	K389E	probably benign	Het
Thbs2	T	A	17: 14,900,584 (GRCm39)	Q541L	probably benign	Het
Tmem161b	C	A	13: 84,370,537 (GRCm39)		probably benign	Het
Tmem94	T	C	11: 115,679,218 (GRCm39)		probably null	Het
Tnfsf13	A	G	11: 69,575,983 (GRCm39)	C35R	probably damaging	Het
Trcg1	C	A	9: 57,149,564 (GRCm39)	Q379K	probably benign	Het
Ubr4	T	C	4: 139,168,007 (GRCm39)	S1507P	probably damaging	Het
Uckl1	A	G	2: 181,215,049 (GRCm39)	I268T	probably damaging	Het
Uvrag	T	C	7: 98,641,174 (GRCm39)	K289E	possibly damaging	Het
Vmn2r104	C	A	17: 20,250,483 (GRCm39)	C596F	possibly damaging	Het
Vmn2r11	A	T	5: 109,201,626 (GRCm39)	F293I	probably damaging	Het
Vps13b	T	A	15: 35,669,052 (GRCm39)		probably null	Het
Wipf1	G	A	2: 73,267,879 (GRCm39)	P173L	possibly damaging	Het
Zfp217	G	A	2: 169,961,571 (GRCm39)	S252F	possibly damaging	Het
Zscan4f	T	A	7: 11,135,154 (GRCm39)	C187S	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
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
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'- AAGTGCAAGTATGTTCCTTAGAGG -3'
(R):5'- GTGACACTGATTGATGCCTTATTG -3'

Sequencing Primer
(F):5'- TCTCTCTCTCTCTCTCTCTCTCC -3'
(R):5'- ACACTGATTGATGCCTTATTGTTTGG -3'

Posted On

2020-06-30