Mutagenetix > Incidental Mutation

Incidental Mutation 'R5301:Cyp11a1'

404249

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

042884-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5301 (G1)

Quality Score

220

Status

Validated

Chromosome

Chromosomal Location

57913694-57934306 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 57926544 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

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.7%
20x: 96.3%

Validation Efficiency

93% (52/56)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	C	3: 121,896,502 (GRCm39)	V578A	probably damaging	Het
Abcb11	T	C	2: 69,117,191 (GRCm39)	I486V	probably damaging	Het
Abcc9	G	A	6: 142,536,207 (GRCm39)	T1509I	probably benign	Het
Akr1c20	T	A	13: 4,573,279 (GRCm39)	D12V	probably damaging	Het
Asb1	A	G	1: 91,482,475 (GRCm39)	Y66C	probably damaging	Het
Atg14	G	A	14: 47,805,656 (GRCm39)	R70C	probably damaging	Het
Bcl10	A	G	3: 145,636,342 (GRCm39)	D80G	probably damaging	Het
Bdnf	T	C	2: 109,553,884 (GRCm39)	V46A	probably benign	Het
Cyp3a44	A	G	5: 145,725,326 (GRCm39)	S292P	probably damaging	Het
Desi2	A	G	1: 178,071,952 (GRCm39)	I85M	probably benign	Het
Dnah2	C	T	11: 69,349,746 (GRCm39)	R2399Q	probably benign	Het
Dock10	T	C	1: 80,625,973 (GRCm39)	D49G	probably benign	Het
Epcam	T	A	17: 87,944,305 (GRCm39)	L20Q	possibly damaging	Het
Ercc4	T	C	16: 12,948,550 (GRCm39)	V589A	probably damaging	Het
Fcgbp	A	T	7: 27,793,099 (GRCm39)	K1034N	possibly damaging	Het
Fras1	C	T	5: 96,805,125 (GRCm39)	L1256F	possibly damaging	Het
Gata5	T	C	2: 179,975,786 (GRCm39)	Y126C	probably damaging	Het
Gja1	T	C	10: 56,264,475 (GRCm39)	L278P	probably damaging	Het
Gm11596	C	A	11: 99,683,847 (GRCm39)	R91L	unknown	Het
Gm29125	A	T	1: 80,362,154 (GRCm39)		noncoding transcript	Het
Hcrtr1	G	T	4: 130,031,463 (GRCm39)		probably null	Het
Ifi207	G	A	1: 173,556,977 (GRCm39)	S587L	possibly damaging	Het
Ino80d	T	C	1: 63,113,578 (GRCm39)	T291A	probably benign	Het
Itgb3	A	G	11: 104,524,480 (GRCm39)		probably null	Het
Kif26b	A	G	1: 178,358,233 (GRCm39)	S115G	unknown	Het
Klc3	T	C	7: 19,130,274 (GRCm39)	Y301C	probably damaging	Het
Klhl18	G	C	9: 110,265,195 (GRCm39)	N335K	possibly damaging	Het
Meioc	A	T	11: 102,570,871 (GRCm39)	R867S	probably damaging	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Mroh2a	A	G	1: 88,186,386 (GRCm39)	S64G	probably benign	Het
Mthfd2	C	A	6: 83,287,465 (GRCm39)	G200V	probably damaging	Het
Nrap	A	G	19: 56,367,541 (GRCm39)	I312T	probably damaging	Het
Nrp1	T	G	8: 129,160,678 (GRCm39)		probably null	Het
Obscn	A	G	11: 59,026,234 (GRCm39)	L323P	probably damaging	Het
Or11g1	T	C	14: 50,651,030 (GRCm39)	S10P	probably benign	Het
Or1b1	C	T	2: 36,995,210 (GRCm39)	V151M	probably benign	Het
Or9i14	G	A	19: 13,792,933 (GRCm39)	T7I	probably damaging	Het
Pkn2	A	C	3: 142,544,967 (GRCm39)		probably null	Het
Ppp1r18	A	G	17: 36,179,237 (GRCm39)	R371G	probably benign	Het
Prkar2b	A	C	12: 32,025,927 (GRCm39)	V31G	probably damaging	Het
Reg3b	T	A	6: 78,348,243 (GRCm39)	M19K	probably damaging	Het
Sec14l2	G	A	11: 4,068,727 (GRCm39)		probably benign	Het
Sgca	C	T	11: 94,854,157 (GRCm39)	R104Q	probably damaging	Het
Slc17a6	A	G	7: 51,308,519 (GRCm39)	Y281C	probably damaging	Het
Sorcs2	A	G	5: 36,196,734 (GRCm39)	V637A	probably damaging	Het
Tdrd9	T	A	12: 112,002,963 (GRCm39)		probably null	Het
Tmem181a	T	C	17: 6,346,070 (GRCm39)	I229T	possibly damaging	Het
Tmpo	A	T	10: 90,985,650 (GRCm39)		probably benign	Het
Ttc41	T	C	10: 86,555,384 (GRCm39)	V280A	probably benign	Het
Vmn1r234	G	T	17: 21,449,589 (GRCm39)	V168F	probably benign	Het
Vmn2r96	T	A	17: 18,817,950 (GRCm39)	I701N	probably damaging	Het
Wnt16	T	A	6: 22,297,848 (GRCm39)	M238K	probably damaging	Het
Zfp607b	A	G	7: 27,403,172 (GRCm39)	T543A	probably benign	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
R0347:Cyp11a1	UTSW	9	57,923,543 (GRCm39)	unclassified	probably benign
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
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'- CCATCAAAGCGTCCTGATCAG -3'
(R):5'- CAGGTCTTAGTTCTGAGGAGTC -3'

Sequencing Primer
(F):5'- GCCCCTATATCCCTCTGAGG -3'
(R):5'- TCTTAGTTCTGAGGAGTCGAAAG -3'

Posted On

2016-07-22