Mutagenetix > Incidental Mutation

Incidental Mutation 'R9097:Cyp51'

691406

Institutional Source

Beutler Lab

Gene Symbol

Cyp51

Ensembl Gene

ENSMUSG00000001467

Gene Name

cytochrome P450, family 51

Synonyms

MMRRC Submission

068912-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9097 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4131145-4154746 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 4149172 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Asparagine at position 235 (T235N)

Ref Sequence

ENSEMBL: ENSMUSP00000001507 (fasta)

Gene Model

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

AlphaFold

Q8K0C4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000001507
AA Change: T235N

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000001507
Gene: ENSMUSG00000001467
AA Change: T235N

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: 99.5%
20x: 98.1%

Validation Efficiency

96% (50/52)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Antxrl	G	A	14: 33,793,660 (GRCm39)	V463I	probably benign	Het
Aox1	T	A	1: 58,326,887 (GRCm39)	L162Q	possibly damaging	Het
Arhgap40	A	T	2: 158,389,584 (GRCm39)	M586L	probably benign	Het
Arnt	G	T	3: 95,397,588 (GRCm39)	S535I	probably benign	Het
Bsx	G	T	9: 40,785,636 (GRCm39)	G55C	probably damaging	Het
Ccdc168	T	C	1: 44,098,049 (GRCm39)	I1016M	possibly damaging	Het
Col9a1	A	T	1: 24,224,207 (GRCm39)	I130F	unknown	Het
Depdc1a	T	A	3: 159,204,117 (GRCm39)	D55E	probably benign	Het
Dlc1	A	T	8: 37,080,721 (GRCm39)	I10N	probably benign	Het
Dzank1	G	T	2: 144,316,882 (GRCm39)	L767I	possibly damaging	Het
Eif3k	A	T	7: 28,671,660 (GRCm39)	*193K	probably null	Het
Eprs1	C	A	1: 185,139,303 (GRCm39)	A896E	probably benign	Het
Evc2	T	A	5: 37,550,505 (GRCm39)	F840I	possibly damaging	Het
Fut2	G	T	7: 45,300,375 (GRCm39)	H132Q	probably benign	Het
Gbp11	T	C	5: 105,474,347 (GRCm39)	*443W	probably null	Het
Gimd1	T	A	3: 132,340,661 (GRCm39)	M59K	probably benign	Het
Glis2	A	G	16: 4,429,640 (GRCm39)	T228A	probably damaging	Het
Gm21663	G	C	5: 26,147,167 (GRCm39)	C46W	probably benign	Het
Gpr162	A	G	6: 124,836,570 (GRCm39)	I367T	probably benign	Het
Grik1	G	A	16: 87,732,796 (GRCm39)	T692I		Het
Igf2r	G	T	17: 12,910,100 (GRCm39)	A2043D	probably damaging	Het
Il12b	C	A	11: 44,301,107 (GRCm39)	L208M	probably benign	Het
Il12b	T	A	11: 44,301,108 (GRCm39)	L208Q	probably damaging	Het
Lrrk2	C	T	15: 91,557,459 (GRCm39)		probably benign	Het
Map3k9	T	C	12: 81,819,855 (GRCm39)	D133G	possibly damaging	Het
Mrc2	A	G	11: 105,231,398 (GRCm39)	D777G	probably damaging	Het
Mtrr	A	G	13: 68,723,441 (GRCm39)	L157P	probably benign	Het
Nol4l	C	A	2: 153,312,630 (GRCm39)	R226L	probably damaging	Het
Nsmaf	CAAACTTTTAAACTT	CAAACTT	4: 6,416,543 (GRCm39)		probably null	Het
Or4f7	T	A	2: 111,644,196 (GRCm39)	K292*	probably null	Het
Or51f23c-ps1	A	G	7: 102,431,475 (GRCm39)	H264R	probably damaging	Het
Or5p73	A	T	7: 108,064,815 (GRCm39)	I95F	probably damaging	Het
Or6c7	T	A	10: 129,323,647 (GRCm39)	M256K	possibly damaging	Het
Or7g22	G	A	9: 19,048,670 (GRCm39)	C127Y	probably damaging	Het
Or9g8	T	A	2: 85,607,669 (GRCm39)	V247E	probably damaging	Het
Pkn2	C	T	3: 142,515,249 (GRCm39)	R695Q	probably benign	Het
Ppp1r9a	A	G	6: 4,906,012 (GRCm39)	D189G	probably damaging	Het
Prkca	A	G	11: 107,905,061 (GRCm39)	S226P	probably benign	Het
Ptpru	T	C	4: 131,499,843 (GRCm39)	N1267S	probably damaging	Het
Retnlb	T	A	16: 48,638,980 (GRCm39)		probably benign	Het
Rrp12	A	T	19: 41,878,577 (GRCm39)	D189E	probably benign	Het
Serpinb7	G	A	1: 107,377,907 (GRCm39)	C200Y	probably damaging	Het
Sez6	G	A	11: 77,865,121 (GRCm39)	E623K	possibly damaging	Het
Stk32a	A	T	18: 43,446,497 (GRCm39)	M316L	possibly damaging	Het
Supt6	G	T	11: 78,113,100 (GRCm39)	H948N	probably benign	Het
Sycp2l	A	T	13: 41,300,070 (GRCm39)	D428V	possibly damaging	Het
Tasp1	A	T	2: 139,725,690 (GRCm39)		probably null	Het
Telo2	T	C	17: 25,324,066 (GRCm39)	T550A	probably benign	Het
Tmem131l	A	T	3: 83,850,122 (GRCm39)	N225K	probably damaging	Het
Tnc	T	C	4: 63,888,622 (GRCm39)	T1724A	possibly damaging	Het
Tyk2	C	A	9: 21,020,072 (GRCm39)	E1029*	probably null	Het
Uhmk1	C	T	1: 170,042,879 (GRCm39)		probably benign	Het
Vav2	G	A	2: 27,181,850 (GRCm39)	R330W	probably damaging	Het
Vmn1r16	A	T	6: 57,300,250 (GRCm39)	I124N	probably benign	Het
Vmn1r181	A	G	7: 23,684,444 (GRCm39)	N303S	probably benign	Het
Vmn1r50	G	A	6: 90,085,022 (GRCm39)	V256I	probably benign	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
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
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'- GACTTTTGGGATAGCATTGGAAATG -3'
(R):5'- TGCAATGGTGGTTATAGTACACAC -3'

Sequencing Primer
(F):5'- TTGGGATAGCATTGGAAATGTAAATG -3'
(R):5'- TGAAGCACTGTCTGAGCT -3'

Posted On

2021-12-30