Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4431001:Cyp11a1'

555248

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

PIT4431001 (G1)

Quality Score

169.009

Status

Not validated

Chromosome

Chromosomal Location

57913694-57934306 bp(+) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to T at 57923555 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000034874 (fasta)

Gene Model

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

AlphaFold

Q9QZ82

Predicted Effect

probably null
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 null
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

Coding Region Coverage

1x: 93.2%
3x: 90.7%
10x: 84.7%
20x: 71.4%

Validation Efficiency

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930449I24Rik	A	G	5: 146,439,322 (GRCm39)	I29V	probably benign	Het
5730455P16Rik	C	A	11: 80,254,750 (GRCm39)	C357F	probably damaging	Het
Actr1a	A	T	19: 46,370,731 (GRCm39)		probably null	Het
Adcy1	C	G	11: 7,014,089 (GRCm39)	Q164E	possibly damaging	Het
Arhgap35	A	T	7: 16,295,536 (GRCm39)	S1176R	possibly damaging	Het
Atad2b	A	G	12: 5,081,795 (GRCm39)	T1235A	possibly damaging	Het
Atosb	C	A	4: 43,036,024 (GRCm39)	G236C	probably damaging	Het
Atp8a2	T	C	14: 59,892,075 (GRCm39)	D1091G	probably benign	Het
Bmp6	T	C	13: 38,669,906 (GRCm39)	S397P	probably benign	Het
C3	A	T	17: 57,513,242 (GRCm39)	N1468K	probably benign	Het
Ccnjl	CGCG	CGCGGCG	11: 43,470,534 (GRCm39)		probably benign	Het
Ccr1	T	C	9: 123,764,231 (GRCm39)	I100V	probably benign	Het
Cep162	T	A	9: 87,126,398 (GRCm39)	R171S	probably benign	Het
Chd8	T	C	14: 52,455,706 (GRCm39)	H994R	probably damaging	Het
Cntn3	T	A	6: 102,441,527 (GRCm39)	K6N	probably benign	Het
Cope	A	G	8: 70,765,417 (GRCm39)	E289G	probably damaging	Het
Cpne8	T	G	15: 90,436,178 (GRCm39)	E279A	probably damaging	Het
Dcp2	A	G	18: 44,545,638 (GRCm39)	K333R	probably benign	Het
Dpp6	G	T	5: 27,836,496 (GRCm39)	V329F	probably benign	Het
Drc1	T	A	5: 30,504,417 (GRCm39)	D186E	probably damaging	Het
Dsc2	G	A	18: 20,179,334 (GRCm39)	Q245*	probably null	Het
Eef1e1	T	C	13: 38,842,938 (GRCm39)	E11G	probably damaging	Het
Emilin2	G	A	17: 71,562,990 (GRCm39)	P915S	probably benign	Het
Fpgt	A	G	3: 154,792,422 (GRCm39)	M535T	possibly damaging	Het
Fxyd3	G	A	7: 30,770,780 (GRCm39)	L37F	probably damaging	Het
Gal3st2c	T	A	1: 93,935,834 (GRCm39)	I62N	probably damaging	Het
Gdpd3	T	C	7: 126,365,647 (GRCm39)	I2T	probably benign	Het
Gm9611	T	C	14: 42,115,888 (GRCm39)	M169V		Het
Ints3	G	A	3: 90,303,767 (GRCm39)	T720I	probably damaging	Het
Itpr2	T	G	6: 146,256,218 (GRCm39)	M992L	probably benign	Het
L3mbtl2	T	A	15: 81,560,508 (GRCm39)	H256Q	probably benign	Het
Lama2	T	C	10: 26,977,426 (GRCm39)	T1918A	probably damaging	Het
Lpcat2b	G	A	5: 107,581,997 (GRCm39)	G442D	probably damaging	Het
Lrp1b	C	T	2: 40,894,767 (GRCm39)	V2268M		Het
Macc1	T	C	12: 119,410,246 (GRCm39)	L338P	probably benign	Het
Mtmr2	T	C	9: 13,704,475 (GRCm39)	F201L	probably benign	Het
Mtr	C	T	13: 12,227,329 (GRCm39)	V772M	probably damaging	Het
Mtus2	A	G	5: 148,013,515 (GRCm39)	T103A	probably benign	Het
Myo5c	A	G	9: 75,159,853 (GRCm39)	I294V	possibly damaging	Het
Ncam1	A	T	9: 49,709,993 (GRCm39)	F13I	probably benign	Het
Or4a75	T	C	2: 89,448,201 (GRCm39)	I112V	probably benign	Het
Paqr6	A	T	3: 88,273,084 (GRCm39)	I52F	possibly damaging	Het
Pde2a	T	G	7: 101,151,104 (GRCm39)	V271G	probably damaging	Het
Pde7b	T	C	10: 20,276,291 (GRCm39)	H405R	possibly damaging	Het
Plxnb1	A	G	9: 108,929,786 (GRCm39)	Y214C	probably damaging	Het
Pmp22	T	C	11: 63,042,067 (GRCm39)	F101L	probably benign	Het
Pold1	A	G	7: 44,188,318 (GRCm39)	L520P	probably damaging	Het
Pramel1	A	G	4: 143,124,960 (GRCm39)	T295A	possibly damaging	Het
Psg20	A	T	7: 18,408,475 (GRCm39)	I415N	probably damaging	Het
Ptcd2	T	A	13: 99,476,527 (GRCm39)	R71*	probably null	Het
Ptgs1	A	T	2: 36,130,692 (GRCm39)	N197I	probably damaging	Het
Rbfox3	T	C	11: 118,386,047 (GRCm39)	D333G	probably damaging	Het
Rfx7	T	A	9: 72,525,253 (GRCm39)	H814Q	probably benign	Het
Rptn	TGGGTCAGAAAGGCAGGCATGACCAGAGTCCTCACCAGGGTCAGAAAGGCAGGCATGACCAGAGTCCTCACCAGGGTCAGAAAGGCAGACAAGACCTGAGTTCTCACCAGGGTCAGAAAGGCAGACAAGACCAGAGTCCTCACCTGGGTCAGAAAGGCAGGCATGACCAGAGTCCTCACCGGGGTCAGAAAGGCAGGCAAGACCAGAGTCCTCACCAGGGTCAGAAAGGCAG	TGGGTCAGAAAGGCAGGCATGACCAGAGTCCTCACCAGGGTCAGAAAGGCAGACAAGACCTGAGTTCTCACCAGGGTCAGAAAGGCAGACAAGACCAGAGTCCTCACCTGGGTCAGAAAGGCAGGCATGACCAGAGTCCTCACCGGGGTCAGAAAGGCAGGCAAGACCAGAGTCCTCACCAGGGTCAGAAAGGCAG	3: 93,304,704 (GRCm39)		probably benign	Het
Serpina3i	A	T	12: 104,231,432 (GRCm39)	H23L	probably benign	Het
Sipa1l1	T	A	12: 82,443,290 (GRCm39)	V860E	probably benign	Het
Slc12a1	T	A	2: 125,032,124 (GRCm39)	Y592N	possibly damaging	Het
Slco2a1	T	C	9: 102,927,467 (GRCm39)	F120S	probably damaging	Het
Smyd4	T	C	11: 75,294,339 (GRCm39)	F740S	probably damaging	Het
Sppl2a	T	C	2: 126,765,396 (GRCm39)	Y242C	probably damaging	Het
Sqle	A	G	15: 59,195,509 (GRCm39)	K288R	probably benign	Het
Tbc1d17	A	G	7: 44,494,498 (GRCm39)	S246P	probably benign	Het
Tenm3	G	A	8: 48,688,642 (GRCm39)	T2315M	probably damaging	Het
Tgfb1i1	C	T	7: 127,848,353 (GRCm39)	R191C	probably damaging	Het
Thumpd3	T	A	6: 113,036,939 (GRCm39)	N279K	probably benign	Het
Tmed5	T	A	5: 108,277,887 (GRCm39)	H95L	possibly damaging	Het
Tmem161a	T	C	8: 70,634,674 (GRCm39)	L443P	probably damaging	Het
Ttc38	C	A	15: 85,720,328 (GRCm39)	Q97K	probably benign	Het
Unc13c	C	A	9: 73,656,829 (GRCm39)	C1124F	probably damaging	Het
Vmn2r102	A	G	17: 19,896,958 (GRCm39)	T102A	possibly damaging	Het
Vwce	G	A	19: 10,641,946 (GRCm39)	E891K	possibly damaging	Het
Xkr5	A	T	8: 18,984,361 (GRCm39)	S394T	possibly damaging	Het
Zan	C	T	5: 137,390,326 (GRCm39)	C4747Y	unknown	Het
Zfp804a	T	C	2: 82,089,536 (GRCm39)	F1122L	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
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
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'- TCCTTTGGAATGAGTCACAATGTC -3'
(R):5'- GAGGCTCACTCAGAACTCAC -3'

Sequencing Primer
(F):5'- TCTTCAGCAGCTCCGCAAG -3'
(R):5'- TCACTTAAACAGGACCCCAATGG -3'

Posted On

2019-06-07