Mutagenetix > Incidental Mutation

Incidental Mutation 'R4799:Cyp51'

369320

Institutional Source

Beutler Lab

Gene Symbol

Cyp51

Ensembl Gene

ENSMUSG00000001467

Gene Name

cytochrome P450, family 51

Synonyms

MMRRC Submission

041997-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4799 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4131145-4154746 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 4133256 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 461 (T461S)

Ref Sequence

ENSEMBL: ENSMUSP00000001507 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001507] [ENSMUST00000044492]

AlphaFold

Q8K0C4

Predicted Effect

probably damaging
Transcript: ENSMUST00000001507
AA Change: T461S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000001507
Gene: ENSMUSG00000001467
AA Change: T461S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000044492

SMART Domains

Protein: ENSMUSP00000046129
Gene: ENSMUSG00000040407

Domain	Start	End	E-Value	Type
low complexity region	9	18	N/A	INTRINSIC
low complexity region	33	44	N/A	INTRINSIC
low complexity region	98	115	N/A	INTRINSIC
Blast:HPT	126	197	6e-21	BLAST
low complexity region	237	249	N/A	INTRINSIC
low complexity region	297	315	N/A	INTRINSIC
coiled coil region	404	593	N/A	INTRINSIC
coiled coil region	622	756	N/A	INTRINSIC
coiled coil region	777	843	N/A	INTRINSIC
coiled coil region	888	958	N/A	INTRINSIC
low complexity region	982	997	N/A	INTRINSIC
coiled coil region	1037	1065	N/A	INTRINSIC
low complexity region	1233	1246	N/A	INTRINSIC
internal_repeat_2	1247	1312	7.75e-5	PROSPERO
internal_repeat_1	1377	1485	2.63e-5	PROSPERO
coiled coil region	1522	1589	N/A	INTRINSIC
coiled coil region	1789	2107	N/A	INTRINSIC
coiled coil region	2132	2318	N/A	INTRINSIC
internal_repeat_1	2322	2445	2.63e-5	PROSPERO
coiled coil region	2455	2494	N/A	INTRINSIC
low complexity region	2587	2598	N/A	INTRINSIC
low complexity region	2627	2640	N/A	INTRINSIC
internal_repeat_2	2934	2997	7.75e-5	PROSPERO
low complexity region	3000	3016	N/A	INTRINSIC
coiled coil region	3109	3307	N/A	INTRINSIC
coiled coil region	3455	3493	N/A	INTRINSIC
coiled coil region	3521	3556	N/A	INTRINSIC
Pfam:PACT_coil_coil	3576	3657	1.2e-27	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129448

Meta Mutation Damage Score

0.1183

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 92.6%

Validation Efficiency

97% (122/126)

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: 119 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd12b	C	G	12: 70,215,838 (GRCm39)	S170C	probably damaging	Het
Acads	T	A	5: 115,251,149 (GRCm39)	T112S	probably benign	Het
Adgrl1	A	G	8: 84,662,202 (GRCm39)	H1021R	probably benign	Het
Ago3	A	T	4: 126,241,665 (GRCm39)		probably null	Het
Ap5m1	A	G	14: 49,318,527 (GRCm39)	K412E	probably benign	Het
Arid1b	C	T	17: 5,389,496 (GRCm39)	P1681S	probably damaging	Het
Atxn10	T	C	15: 85,260,909 (GRCm39)		probably null	Het
AU040320	A	G	4: 126,733,462 (GRCm39)	T661A	probably benign	Het
Bhmt1b	C	A	18: 87,774,573 (GRCm39)	A32E	probably damaging	Het
Capn7	T	C	14: 31,082,514 (GRCm39)	I455M	probably benign	Het
Capzb	A	G	4: 138,920,310 (GRCm39)		probably benign	Het
Car10	G	A	11: 93,469,492 (GRCm39)	V156I	possibly damaging	Het
Cbs	T	A	17: 31,851,826 (GRCm39)	D59V	probably damaging	Het
Ccar2	T	C	14: 70,377,003 (GRCm39)	E819G	probably damaging	Het
Cdc73	T	A	1: 143,503,613 (GRCm39)	Q346L	probably benign	Het
Cdhr4	T	C	9: 107,875,898 (GRCm39)		probably benign	Het
Cfap251	C	T	5: 123,440,835 (GRCm39)	H1131Y	probably benign	Het
Chd2	A	T	7: 73,134,184 (GRCm39)	M721K	possibly damaging	Het
Cntnap5b	G	A	1: 100,286,450 (GRCm39)	G402R	probably benign	Het
Cps1	T	C	1: 67,182,145 (GRCm39)	Y120H	probably damaging	Het
Csf2	T	C	11: 54,140,306 (GRCm39)	D44G	probably benign	Het
Cubn	T	A	2: 13,291,835 (GRCm39)	Q3330L	possibly damaging	Het
Cubn	A	G	2: 13,355,869 (GRCm39)	S1788P	probably damaging	Het
Cul9	T	C	17: 46,811,770 (GRCm39)	D2486G	possibly damaging	Het
Cyp2c40	A	T	19: 39,762,293 (GRCm39)	S451R	probably damaging	Het
Cyth1	T	C	11: 118,074,768 (GRCm39)	M164V	probably damaging	Het
D130043K22Rik	T	C	13: 25,062,023 (GRCm39)	I664T	probably damaging	Het
Ddc	T	C	11: 11,796,632 (GRCm39)		probably null	Het
Ddx21	A	T	10: 62,423,900 (GRCm39)	D589E	probably damaging	Het
Dgkb	C	T	12: 38,164,567 (GRCm39)	R113C	possibly damaging	Het
Dglucy	A	T	12: 100,816,602 (GRCm39)	M415L	probably benign	Het
Efnb2	A	T	8: 8,673,104 (GRCm39)		probably null	Het
Elp4	T	A	2: 105,639,612 (GRCm39)	Q189L	probably damaging	Het
Enpp2	T	C	15: 54,773,490 (GRCm39)	N77S	probably damaging	Het
Eps15	G	A	4: 109,223,727 (GRCm39)		probably benign	Het
F2rl1	G	A	13: 95,650,477 (GRCm39)	S135F	possibly damaging	Het
Fam133b	T	C	5: 3,607,815 (GRCm39)	M65T	probably damaging	Het
Fanca	A	G	8: 124,014,941 (GRCm39)	V689A	probably damaging	Het
Fbh1	C	T	2: 11,760,558 (GRCm39)	C79Y	probably damaging	Het
Fbxw7	C	T	3: 84,811,168 (GRCm39)	Q98*	probably null	Het
Flrt3	T	C	2: 140,502,086 (GRCm39)	N514S	probably damaging	Het
Foxj3	A	T	4: 119,478,857 (GRCm39)	S438C	unknown	Het
Gcm2	T	C	13: 41,256,970 (GRCm39)	K260E	possibly damaging	Het
Gm12863	C	T	4: 118,811,685 (GRCm39)		noncoding transcript	Het
Gpnmb	G	T	6: 49,022,417 (GRCm39)		probably null	Het
Gsap	C	A	5: 21,455,941 (GRCm39)	N379K	probably benign	Het
Hsd3b1	T	A	3: 98,760,181 (GRCm39)	Y270F	probably benign	Het
Ift70a2	T	A	2: 75,807,729 (GRCm39)	Y261F	probably benign	Het
Il22	C	A	10: 118,041,058 (GRCm39)	R55S	probably damaging	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Klhdc3	T	C	17: 46,988,226 (GRCm39)	R180G	possibly damaging	Het
Lmbrd1	G	A	1: 24,784,056 (GRCm39)		probably null	Het
Lrrcc1	C	T	3: 14,601,156 (GRCm39)	R63*	probably null	Het
Lyar	A	G	5: 38,382,123 (GRCm39)	D35G	probably damaging	Het
Mbd4	C	T	6: 115,822,283 (GRCm39)	R442Q	probably benign	Het
Mib2	G	T	4: 155,744,229 (GRCm39)	S144R	probably benign	Het
Mms22l	A	T	4: 24,580,052 (GRCm39)		probably null	Het
Mtmr3	G	A	11: 4,437,764 (GRCm39)	H897Y	probably benign	Het
Muc5b	T	A	7: 141,401,453 (GRCm39)	C566*	probably null	Het
Nap1l4	A	T	7: 143,088,200 (GRCm39)		probably null	Het
Ncor2	A	T	5: 125,114,124 (GRCm39)		probably null	Het
Ndufa7	T	C	17: 34,057,187 (GRCm39)		probably benign	Het
Ndufs1	C	A	1: 63,200,108 (GRCm39)	G268V	probably damaging	Het
Nfs1	A	G	2: 155,976,369 (GRCm39)	V175A	possibly damaging	Het
Obsl1	C	A	1: 75,466,145 (GRCm39)	A1528S	possibly damaging	Het
Or2z8	A	G	8: 72,811,938 (GRCm39)	N138S	probably benign	Het
Or4a79	C	T	2: 89,551,706 (GRCm39)	V250I	probably benign	Het
Or52z1	A	T	7: 103,436,688 (GRCm39)	F265L	possibly damaging	Het
Or7a42	T	G	10: 78,791,931 (GRCm39)	D297E	probably null	Het
Or8k39	C	T	2: 86,563,018 (GRCm39)		probably null	Het
Pcdhb8	A	G	18: 37,488,706 (GRCm39)	D128G	probably damaging	Het
Pkp4	A	T	2: 59,172,449 (GRCm39)	I522F	probably damaging	Het
Plod3	G	A	5: 137,019,654 (GRCm39)	A398T	probably benign	Het
Pou4f3	A	G	18: 42,529,052 (GRCm39)	M332V	possibly damaging	Het
Prox1	A	G	1: 189,885,669 (GRCm39)	F593L	probably damaging	Het
Prrc2a	G	A	17: 35,369,018 (GRCm39)	P2006L	probably damaging	Het
Prss50	A	G	9: 110,692,864 (GRCm39)	D328G	probably damaging	Het
Psmd6	C	T	14: 14,120,126 (GRCm38)	S71N	probably benign	Het
Ptprd	A	G	4: 76,009,769 (GRCm39)	I764T	probably benign	Het
Ptprr	C	T	10: 115,884,123 (GRCm39)	A60V	probably benign	Het
Raet1e	T	A	10: 22,057,199 (GRCm39)	D174E	probably damaging	Het
Rbfox2	T	C	15: 76,976,018 (GRCm39)	I308M	probably benign	Het
Rnf20	G	C	4: 49,649,962 (GRCm39)		probably null	Het
Rpap2	A	T	5: 107,768,113 (GRCm39)	H317L	probably benign	Het
Rsph6a	T	A	7: 18,799,783 (GRCm39)	Y471*	probably null	Het
Sdhb	A	G	4: 140,704,777 (GRCm39)	H246R	possibly damaging	Het
Sh3bp5	C	A	14: 31,099,452 (GRCm39)	R265L	probably benign	Het
Sin3b	A	C	8: 73,452,271 (GRCm39)	I126L	probably benign	Het
Skint2	G	A	4: 112,509,305 (GRCm39)	A363T	probably benign	Het
Slc22a30	A	G	19: 8,321,768 (GRCm39)	I432T	probably benign	Het
Slc2a2	G	A	3: 28,771,681 (GRCm39)		probably null	Het
Slco1a5	T	C	6: 142,194,533 (GRCm39)	Y370C	possibly damaging	Het
Sltm	A	G	9: 70,496,339 (GRCm39)	H958R	probably damaging	Het
Smpdl3a	C	T	10: 57,684,111 (GRCm39)	H290Y	probably damaging	Het
Snrnp40	A	G	4: 130,256,549 (GRCm39)	I91M	probably damaging	Het
Spag9	T	A	11: 93,939,343 (GRCm39)	F91I	probably damaging	Het
Spag9	A	T	11: 93,939,342 (GRCm39)	K90N	possibly damaging	Het
Stox1	A	C	10: 62,501,516 (GRCm39)	I348S	probably damaging	Het
Sult1e1	A	G	5: 87,738,027 (GRCm39)	V18A	possibly damaging	Het
Syne2	A	G	12: 75,945,941 (GRCm39)	M338V	probably benign	Het
Tbc1d23	T	A	16: 57,012,991 (GRCm39)	Q327L	probably benign	Het
Terf2	G	T	8: 107,803,307 (GRCm39)	H425Q	probably benign	Het
Timd2	A	T	11: 46,568,094 (GRCm39)	Y233*	probably null	Het
Tmem39a	A	G	16: 38,411,524 (GRCm39)		probably benign	Het
Trappc10	T	C	10: 78,037,424 (GRCm39)	D793G	possibly damaging	Het
Ugt1a10	TAAAAAAAAA	TAAAAAAA	1: 88,143,650 (GRCm39)		probably benign	Het
Unc93a	T	C	17: 13,339,782 (GRCm39)		probably null	Het
Utrn	T	C	10: 12,625,813 (GRCm39)	T123A	probably damaging	Het
Vmn1r171	T	C	7: 23,332,369 (GRCm39)	I198T	probably benign	Het
Vmn1r213	T	A	13: 23,196,016 (GRCm39)	S200T	probably damaging	Het
Vmn2r108	T	A	17: 20,682,891 (GRCm39)	D771V	probably damaging	Het
Wls	C	T	3: 159,603,082 (GRCm39)	T165I	probably benign	Het
Zc3h13	G	A	14: 75,576,863 (GRCm39)	C1657Y	probably damaging	Het
Zdhhc5	T	C	2: 84,523,775 (GRCm39)	K224E	probably damaging	Het
Zfp54	T	A	17: 21,654,402 (GRCm39)	Y299N	probably damaging	Het
Zfp820	A	T	17: 22,037,966 (GRCm39)	L454Q	probably benign	Het
Zfp960	T	A	17: 17,308,698 (GRCm39)	F471I	probably damaging	Het
Zswim5	A	G	4: 116,830,169 (GRCm39)	I515V	probably benign	Het
Zzef1	G	T	11: 72,750,449 (GRCm39)	S919I	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
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'- TACAGCACGAGAGCTTCTCAG -3'
(R):5'- GATTCTCACCTTATGTGCAGGCG -3'

Sequencing Primer
(F):5'- GAGAGCTTCTCAGAGGCTTCATTC -3'
(R):5'- TTATGTGCAGGCGTCACC -3'

Posted On

2016-02-04