Mutagenetix > Incidental Mutation

Incidental Mutation 'R6484:Cyp51'

517244

Institutional Source

Beutler Lab

Gene Symbol

Cyp51

Ensembl Gene

ENSMUSG00000001467

Gene Name

cytochrome P450, family 51

Synonyms

MMRRC Submission

044616-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6484 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4131145-4154746 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 4136627 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 389 (T389M)

Ref Sequence

ENSEMBL: ENSMUSP00000001507 (fasta)

Gene Model

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

AlphaFold

Q8K0C4

Predicted Effect

probably benign
Transcript: ENSMUST00000001507
AA Change: T389M

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000001507
Gene: ENSMUSG00000001467
AA Change: T389M

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 97.8%
20x: 92.7%

Validation Efficiency

100% (60/60)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abce1	A	T	8: 80,416,952 (GRCm39)	M353K	probably damaging	Het
Adgre4	G	A	17: 56,109,036 (GRCm39)	V348M	possibly damaging	Het
Alg8	T	C	7: 97,032,135 (GRCm39)	V228A	probably benign	Het
Bltp2	T	C	11: 78,169,921 (GRCm39)	V1548A	probably damaging	Het
Btbd8	T	C	5: 107,651,451 (GRCm39)	S115P	probably benign	Het
Car8	A	G	4: 8,189,362 (GRCm39)	F151L	probably benign	Het
CN725425	A	G	15: 91,144,775 (GRCm39)	Q546R	probably benign	Het
Col17a1	C	T	19: 47,658,868 (GRCm39)	V414M	possibly damaging	Het
Col6a3	C	A	1: 90,719,645 (GRCm39)		probably null	Het
Cyren	G	A	6: 34,851,551 (GRCm39)	S101L	probably damaging	Het
Dazap1	A	G	10: 80,113,481 (GRCm39)	T126A	probably benign	Het
Dscc1	T	A	15: 54,943,686 (GRCm39)	K395*	probably null	Het
Dthd1	A	G	5: 62,971,675 (GRCm39)	N166S	probably benign	Het
Eefsec	C	G	6: 88,274,770 (GRCm39)	W398S	probably damaging	Het
Enpep	T	A	3: 129,115,130 (GRCm39)	H214L	probably damaging	Het
Esf1	T	C	2: 140,000,458 (GRCm39)	I443V	probably benign	Het
Espl1	T	C	15: 102,231,935 (GRCm39)	V1984A	possibly damaging	Het
Hip1	A	G	5: 135,468,983 (GRCm39)	S280P	probably damaging	Het
Il12rb1	C	T	8: 71,262,348 (GRCm39)		probably null	Het
Itgax	T	A	7: 127,732,890 (GRCm39)	C255S	probably benign	Het
Kifc5b	T	C	17: 27,143,746 (GRCm39)	V506A	probably damaging	Het
Klf3	A	G	5: 64,980,372 (GRCm39)	E54G	probably damaging	Het
Lrig3	A	G	10: 125,832,478 (GRCm39)		probably null	Het
Mctp1	A	G	13: 76,836,744 (GRCm39)	I104V	probably benign	Het
Mdga2	T	C	12: 66,676,843 (GRCm39)	E552G	possibly damaging	Het
Mpc1	A	G	17: 8,515,788 (GRCm39)	E160G	possibly damaging	Het
Myh10	T	A	11: 68,590,293 (GRCm39)	I76N	probably damaging	Het
Myh7b	A	T	2: 155,470,563 (GRCm39)	I1032F	probably benign	Het
Olfml2a	G	A	2: 38,849,780 (GRCm39)	V499I	probably damaging	Het
Or2h1	T	A	17: 37,404,158 (GRCm39)	I203F	probably benign	Het
Or4f58	A	T	2: 111,851,764 (GRCm39)	L145*	probably null	Het
Or5b105	A	G	19: 13,080,431 (GRCm39)	V79A	probably benign	Het
P2ry12	A	G	3: 59,124,754 (GRCm39)	L307P	probably damaging	Het
Pappa	C	A	4: 65,232,896 (GRCm39)	A1345D	probably damaging	Het
Phox2b	A	G	5: 67,255,044 (GRCm39)	I135T	possibly damaging	Het
Poln	C	T	5: 34,286,857 (GRCm39)	A104T	probably benign	Het
Prkce	A	G	17: 86,798,237 (GRCm39)	D342G	probably benign	Het
Ptchd3	T	A	11: 121,733,764 (GRCm39)	F885I	possibly damaging	Het
Rcbtb2	A	T	14: 73,414,490 (GRCm39)	S434C	probably damaging	Het
Rfc1	A	G	5: 65,451,020 (GRCm39)	V356A	probably benign	Het
Rln1	A	G	19: 29,311,902 (GRCm39)	F32S	probably benign	Het
Ryr2	A	G	13: 11,677,269 (GRCm39)	L3194P	possibly damaging	Het
Sat2	T	C	11: 69,513,353 (GRCm39)	V34A	probably damaging	Het
Scgb3a2	T	C	18: 43,899,784 (GRCm39)	I24T	possibly damaging	Het
Slc35e2	T	G	4: 155,697,104 (GRCm39)	V206G	probably damaging	Het
Slit3	A	T	11: 35,552,125 (GRCm39)	M890L	probably benign	Het
Sorl1	A	G	9: 41,887,703 (GRCm39)	L2042P	probably damaging	Het
Ssbp1	T	A	6: 40,451,600 (GRCm39)	V9E	probably damaging	Het
Tbc1d23	C	T	16: 56,998,379 (GRCm39)	V520M	probably damaging	Het
Thumpd2	T	C	17: 81,361,617 (GRCm39)	E203G	probably benign	Het
Tlr11	A	G	14: 50,600,135 (GRCm39)	D707G	probably damaging	Het
Tlr12	T	A	4: 128,509,847 (GRCm39)	D801V	probably damaging	Het
Tnrc6b	T	G	15: 80,763,525 (GRCm39)	N342K	possibly damaging	Het
Vmn1r191	A	C	13: 22,362,918 (GRCm39)	F279V	probably benign	Het
Vmn2r13	A	T	5: 109,304,540 (GRCm39)	C630*	probably null	Het
Zbtb1	C	T	12: 76,432,665 (GRCm39)	T217I	probably damaging	Het
Zfp385b	ATCTTCTTCTTCT	ATCTTCTTCTTCTTCT	2: 77,549,992 (GRCm39)		probably benign	Het
Zzef1	C	T	11: 72,786,097 (GRCm39)	P2090S	probably 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
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'- TCCAGGGCAGTTAATGAAGG -3'
(R):5'- TTGCACTGTTGGCCCACTTG -3'

Sequencing Primer
(F):5'- TTCAACTTAAAATGCAGTCAACCATC -3'
(R):5'- GGCCCACTTGTAAATCACTAAGTG -3'

Posted On

2018-05-21