Mutagenetix > Incidental Mutation

Incidental Mutation 'R0347:Cyp11a1'

38459

Institutional Source

Beutler Lab

Gene Symbol

Cyp11a1

Ensembl Gene

ENSMUSG00000032323

Gene Name

cytochrome P450, family 11, subfamily a, polypeptide 1

Synonyms

Cyp11a, D9Ertd411e, Scc, P450scc, cholesterol side chain cleavage, cscc

MMRRC Submission

038554-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0347 (G1)

Quality Score

223

Status

Validated

Chromosome

Chromosomal Location

57913694-57934306 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 57923543 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000140777 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034874] [ENSMUST00000188116] [ENSMUST00000188539]

AlphaFold

Q9QZ82

Predicted Effect

probably benign
Transcript: ENSMUST00000034874

SMART Domains

Protein: ENSMUSP00000034874
Gene: ENSMUSG00000032323

Domain	Start	End	E-Value	Type
low complexity region	30	41	N/A	INTRINSIC
Pfam:p450	49	507	1.8e-120	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000188116

SMART Domains

Protein: ENSMUSP00000140545
Gene: ENSMUSG00000032323

Domain	Start	End	E-Value	Type
Pfam:p450	32	115	3.5e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000188539

SMART Domains

Protein: ENSMUSP00000140777
Gene: ENSMUSG00000032323

Domain	Start	End	E-Value	Type
Pfam:p450	23	279	2.6e-51	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188944

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 91.8%

Validation Efficiency

100% (78/78)

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 protein localizes to the mitochondrial inner membrane and catalyzes the conversion of cholesterol to pregnenolone, the first and rate-limiting step in the synthesis of the steroid hormones. Two transcript variants encoding different isoforms have been found for this gene. The cellular location of the smaller isoform is unclear since it lacks the mitochondrial-targeting transit peptide. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice are exhibit a steroid deficiency and die within days of birth showing signs of dehydration. Males are feminized with female external genitalia and underdeveloped gonads. Mice homozgyous for another knock-out allele exhibit abnormal adrenal development and neonatal lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 121,913,748 (GRCm39)	E908G	probably benign	Het
Abcb5	T	A	12: 118,928,986 (GRCm39)		probably benign	Het
Adhfe1	T	A	1: 9,623,655 (GRCm39)	F102Y	probably benign	Het
Aff4	A	G	11: 53,290,915 (GRCm39)	Y625C	probably benign	Het
Alox5	T	C	6: 116,390,513 (GRCm39)	E488G	possibly damaging	Het
Ankmy2	T	C	12: 36,243,753 (GRCm39)	C323R	probably damaging	Het
Ankrd28	A	G	14: 31,423,979 (GRCm39)	*1084R	probably null	Het
Apol10a	A	T	15: 77,372,891 (GRCm39)	I176F	probably damaging	Het
Arhgap26	C	T	18: 38,750,797 (GRCm39)	T70I	unknown	Het
Arid2	A	G	15: 96,268,833 (GRCm39)	N982S	probably benign	Het
Bcl2	G	A	1: 106,640,292 (GRCm39)	R107C	probably damaging	Het
Camsap3	A	G	8: 3,652,029 (GRCm39)	D291G	probably damaging	Het
Camta1	C	A	4: 151,159,597 (GRCm39)	R1614L	probably damaging	Het
Cdc20b	G	T	13: 113,196,361 (GRCm39)	G162V	probably damaging	Het
Cep44	T	G	8: 56,998,510 (GRCm39)	E56A	probably damaging	Het
Cfap410	A	T	10: 77,820,256 (GRCm39)	I209F	probably damaging	Het
Cfap65	A	G	1: 74,965,603 (GRCm39)	L469P	probably damaging	Het
Cilp	T	A	9: 65,187,435 (GRCm39)	C1177S	probably benign	Het
Ctnnbip1	C	T	4: 149,630,211 (GRCm39)	P7S	probably damaging	Het
Cyp3a11	C	T	5: 145,802,735 (GRCm39)	V253M	possibly damaging	Het
D630045J12Rik	C	A	6: 38,158,327 (GRCm39)	V1117L	probably damaging	Het
Dnah7b	T	A	1: 46,280,104 (GRCm39)	S2678T	probably damaging	Het
Dock1	T	C	7: 134,365,596 (GRCm39)	I428T	probably damaging	Het
Fam83f	A	G	15: 80,556,458 (GRCm39)	D114G	probably damaging	Het
Flt3	T	A	5: 147,294,802 (GRCm39)	N423I	probably damaging	Het
Fnbp1l	A	T	3: 122,383,824 (GRCm39)	F31L	probably damaging	Het
Glrx3	G	A	7: 137,039,430 (GRCm39)	E10K	unknown	Het
Gm12185	T	C	11: 48,806,009 (GRCm39)	E394G	probably benign	Het
Gpatch1	C	T	7: 34,997,056 (GRCm39)	V381M	probably benign	Het
Grm8	T	C	6: 27,981,221 (GRCm39)	S230G	probably benign	Het
Heyl	A	T	4: 123,127,733 (GRCm39)	D25V	probably benign	Het
Junb	G	A	8: 85,705,107 (GRCm39)		probably benign	Het
Klhl29	C	A	12: 5,134,354 (GRCm39)	V747F	probably damaging	Het
Krt77	T	C	15: 101,768,304 (GRCm39)	H569R	unknown	Het
Ldhb	T	C	6: 142,439,859 (GRCm39)	N227S	probably benign	Het
Megf6	A	G	4: 154,339,092 (GRCm39)	D543G	possibly damaging	Het
Mrps23	A	T	11: 88,101,519 (GRCm39)	Q136L	probably benign	Het
Myh2	C	T	11: 67,076,130 (GRCm39)		probably benign	Het
Nadk2	T	A	15: 9,084,287 (GRCm39)	D133E	probably benign	Het
Neurod4	G	A	10: 130,106,980 (GRCm39)	T98I	probably damaging	Het
Nfatc2	G	T	2: 168,378,210 (GRCm39)	T465K	probably damaging	Het
Nipbl	A	G	15: 8,380,216 (GRCm39)	S859P	probably benign	Het
Nipsnap3a	T	C	4: 52,997,155 (GRCm39)		probably benign	Het
Nlrp4c	A	G	7: 6,069,415 (GRCm39)	K439E	possibly damaging	Het
Or10q3	A	T	19: 11,847,797 (GRCm39)	L261H	probably damaging	Het
Or1e32	C	T	11: 73,705,137 (GRCm39)	G257D	probably damaging	Het
Or2a20	T	C	6: 43,194,296 (GRCm39)	F150L	probably benign	Het
Pds5b	T	A	5: 150,659,892 (GRCm39)		probably benign	Het
Pira13	A	T	7: 3,825,873 (GRCm39)	V332E	probably damaging	Het
Plch1	A	G	3: 63,660,737 (GRCm39)	M282T	probably damaging	Het
Plch2	C	A	4: 155,071,178 (GRCm39)	R1067L	possibly damaging	Het
Polr1has	T	A	17: 37,276,207 (GRCm39)	M114K	probably damaging	Het
Pou2f2	A	C	7: 24,797,126 (GRCm39)	F206V	probably damaging	Het
Prss50	A	G	9: 110,691,418 (GRCm39)	I49V	probably damaging	Het
Rexo5	T	A	7: 119,423,119 (GRCm39)		probably null	Het
Rgl2	C	T	17: 34,151,712 (GRCm39)	T252I	probably damaging	Het
Rp1l1	A	T	14: 64,268,253 (GRCm39)	K1280*	probably null	Het
Rpl24	T	A	16: 55,790,540 (GRCm39)		probably null	Het
Satb1	T	A	17: 52,046,934 (GRCm39)	K763*	probably null	Het
Scart2	T	A	7: 139,877,767 (GRCm39)	H800Q	probably damaging	Het
Sema6a	T	A	18: 47,424,196 (GRCm39)	R237S	probably damaging	Het
Spg11	T	C	2: 121,927,850 (GRCm39)	T645A	probably damaging	Het
Srrt	T	A	5: 137,297,938 (GRCm39)		probably benign	Het
Tanc1	T	C	2: 59,673,335 (GRCm39)	V1480A	probably benign	Het
Tbc1d2	T	C	4: 46,620,574 (GRCm39)	D412G	possibly damaging	Het
Tecrl	T	C	5: 83,442,479 (GRCm39)	E198G	probably damaging	Het
Tigd4	A	G	3: 84,501,167 (GRCm39)	D28G	probably damaging	Het
Trp53bp2	T	G	1: 182,269,213 (GRCm39)	L226V	probably benign	Het
Ttll13	T	C	7: 79,910,253 (GRCm39)	S799P	possibly damaging	Het
Vps13c	A	T	9: 67,817,515 (GRCm39)	Q1062H	possibly damaging	Het
Wnt10a	T	G	1: 74,832,702 (GRCm39)	H98Q	probably damaging	Het
Zbtb47	C	T	9: 121,592,168 (GRCm39)	P198S	probably damaging	Het
Zfp959	T	A	17: 56,204,180 (GRCm39)	Y69*	probably null	Het

Other mutations in Cyp11a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00675:Cyp11a1	APN	9	57,926,596 (GRCm39)	missense	probably damaging	1.00
IGL01122:Cyp11a1	APN	9	57,923,589 (GRCm39)	missense	probably damaging	1.00
IGL01993:Cyp11a1	APN	9	57,928,106 (GRCm39)	missense	probably damaging	1.00
PIT4431001:Cyp11a1	UTSW	9	57,923,555 (GRCm39)	critical splice acceptor site	probably null
R1446:Cyp11a1	UTSW	9	57,922,560 (GRCm39)	missense	possibly damaging	0.95
R1774:Cyp11a1	UTSW	9	57,925,643 (GRCm39)	missense	probably benign	0.05
R1918:Cyp11a1	UTSW	9	57,934,040 (GRCm39)	missense	probably damaging	1.00
R2935:Cyp11a1	UTSW	9	57,923,673 (GRCm39)	missense	probably damaging	1.00
R3724:Cyp11a1	UTSW	9	57,926,605 (GRCm39)	missense	probably benign	0.00
R4866:Cyp11a1	UTSW	9	57,933,380 (GRCm39)	missense	probably damaging	1.00
R5301:Cyp11a1	UTSW	9	57,926,544 (GRCm39)	intron	probably benign
R5718:Cyp11a1	UTSW	9	57,925,508 (GRCm39)	missense	probably benign	0.00
R5787:Cyp11a1	UTSW	9	57,922,550 (GRCm39)	missense	probably benign	0.03
R5988:Cyp11a1	UTSW	9	57,928,117 (GRCm39)	missense	probably benign	0.01
R6044:Cyp11a1	UTSW	9	57,933,987 (GRCm39)	missense	probably damaging	1.00
R6286:Cyp11a1	UTSW	9	57,924,701 (GRCm39)	intron	probably benign
R6306:Cyp11a1	UTSW	9	57,932,383 (GRCm39)	missense	probably benign	0.00
R6325:Cyp11a1	UTSW	9	57,932,851 (GRCm39)	missense	probably benign
R6826:Cyp11a1	UTSW	9	57,932,370 (GRCm39)	missense	probably damaging	0.97
R6931:Cyp11a1	UTSW	9	57,932,403 (GRCm39)	missense	possibly damaging	0.77
R6960:Cyp11a1	UTSW	9	57,925,659 (GRCm39)	missense	probably damaging	1.00
R7900:Cyp11a1	UTSW	9	57,923,667 (GRCm39)	missense	possibly damaging	0.94
R8947:Cyp11a1	UTSW	9	57,924,738 (GRCm39)	missense	probably benign	0.00
R8986:Cyp11a1	UTSW	9	57,925,644 (GRCm39)	missense	probably damaging	1.00
R9347:Cyp11a1	UTSW	9	57,928,141 (GRCm39)	missense	possibly damaging	0.86
R9592:Cyp11a1	UTSW	9	57,925,605 (GRCm39)	missense	possibly damaging	0.46

Predicted Primers

PCR Primer
(F):5'- AGCTCCGCAAGACAGATGTCAC -3'
(R):5'- AGATGAGCAGAGCCACTCTTTCCC -3'

Sequencing Primer
(F):5'- GACAGATGTCACATCCATTTCC -3'
(R):5'- Tacacacacacacacacacac -3'

Posted On

2013-05-23