Mutagenetix > Incidental Mutation

Incidental Mutation 'R1446:Cyp11a1'

158883

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

039501-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1446 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

57913694-57934306 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 57922560 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 80 (Q80L)

Ref Sequence

ENSEMBL: ENSMUSP00000034874 (fasta)

Gene Model

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

AlphaFold

Q9QZ82

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034874
AA Change: Q80L

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000034874
Gene: ENSMUSG00000032323
AA Change: Q80L

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: 99.0%
3x: 98.0%
10x: 95.3%
20x: 89.6%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	C	T	5: 77,034,136 (GRCm39)	A472T	probably benign	Het
Adcy4	A	T	14: 56,007,480 (GRCm39)		probably null	Het
Ahcyl2	T	C	6: 29,891,239 (GRCm39)	S448P	probably damaging	Het
Anks1b	A	G	10: 90,346,935 (GRCm39)	Y745C	probably benign	Het
Anxa1	A	T	19: 20,351,103 (GRCm39)	L339Q	probably damaging	Het
Apoa4	A	G	9: 46,153,591 (GRCm39)	D64G	probably benign	Het
Arpc1a	A	G	5: 145,037,896 (GRCm39)		probably null	Het
Bank1	C	T	3: 135,769,904 (GRCm39)	G727R	probably damaging	Het
Best2	T	C	8: 85,734,593 (GRCm39)	Q375R	probably benign	Het
Cacna1b	T	A	2: 24,596,189 (GRCm39)	M501L	probably benign	Het
Col27a1	T	A	4: 63,143,040 (GRCm39)	Y243N	probably damaging	Het
Dnah10	T	A	5: 124,866,860 (GRCm39)	W2260R	probably damaging	Het
Dnajc19	T	C	3: 34,112,128 (GRCm39)	H139R	probably benign	Het
Dppa5a	T	A	9: 78,275,071 (GRCm39)	N77I	probably benign	Het
Edc4	T	C	8: 106,614,764 (GRCm39)	S125P	probably damaging	Het
Eid2	T	C	7: 27,968,014 (GRCm39)	I212T	possibly damaging	Het
Fam234b	T	A	6: 135,186,328 (GRCm39)		probably null	Het
Frem2	T	C	3: 53,562,017 (GRCm39)	E830G	probably benign	Het
Fyb1	A	T	15: 6,681,947 (GRCm39)	I765L	probably benign	Het
Fyn	T	G	10: 39,398,775 (GRCm39)	S124A	probably benign	Het
Gal3st3	T	A	19: 5,356,939 (GRCm39)	F105I	probably damaging	Het
Gpr146	A	G	5: 139,379,177 (GRCm39)	I326M	probably benign	Het
Grk2	G	A	19: 4,337,437 (GRCm39)	R617C	possibly damaging	Het
Gsn	A	G	2: 35,196,598 (GRCm39)	K669R	probably benign	Het
H2-T10	A	T	17: 36,430,266 (GRCm39)	I225N	possibly damaging	Het
Il12rb2	T	C	6: 67,286,127 (GRCm39)	H106R	probably benign	Het
Kat14	A	G	2: 144,215,638 (GRCm39)	E41G	probably damaging	Het
Kcnma1	G	T	14: 23,361,792 (GRCm39)	T1006K	probably damaging	Het
Kif18b	G	A	11: 102,805,525 (GRCm39)	T244I	probably damaging	Het
Klb	A	T	5: 65,506,338 (GRCm39)	H195L	probably damaging	Het
Lrriq4	T	C	3: 30,704,727 (GRCm39)	F252L	probably benign	Het
Lum	C	T	10: 97,404,252 (GRCm39)	T49I	possibly damaging	Het
Map3k4	T	A	17: 12,475,681 (GRCm39)	L84*	probably null	Het
Mindy2	A	G	9: 70,514,738 (GRCm39)		probably null	Het
Mpped2	G	T	2: 106,614,077 (GRCm39)	R137L	possibly damaging	Het
Myo18b	G	A	5: 112,905,425 (GRCm39)	R2058W	probably damaging	Het
Nol8	T	A	13: 49,808,703 (GRCm39)	L65Q	probably damaging	Het
Or11g27	T	C	14: 50,771,159 (GRCm39)	S97P	possibly damaging	Het
Or4c108	A	G	2: 88,804,109 (GRCm39)	I42T	probably benign	Het
Or4x6	A	T	2: 89,949,202 (GRCm39)	L247M	probably damaging	Het
Or5b105	G	A	19: 13,080,380 (GRCm39)	A96V	possibly damaging	Het
Or5g9	A	G	2: 85,551,917 (GRCm39)	H56R	probably damaging	Het
Or8b3	T	G	9: 38,314,601 (GRCm39)	C144G	possibly damaging	Het
Or9a4	C	T	6: 40,548,833 (GRCm39)	S171L	probably benign	Het
Parp12	G	T	6: 39,079,495 (GRCm39)	D338E	probably benign	Het
Pde6d	T	C	1: 86,474,414 (GRCm39)	E77G	probably damaging	Het
Phkg1	A	C	5: 129,902,055 (GRCm39)		probably null	Het
Pigw	A	C	11: 84,769,186 (GRCm39)	S48A	probably benign	Het
Pkm	T	A	9: 59,576,193 (GRCm39)		probably null	Het
Ppp1r3f	G	A	X: 7,426,602 (GRCm39)	T553M	probably damaging	Het
Retreg2	T	A	1: 75,120,103 (GRCm39)	F44L	possibly damaging	Het
Ryr2	A	T	13: 11,753,035 (GRCm39)	M1762K	probably benign	Het
Sec16a	A	G	2: 26,313,579 (GRCm39)	V1927A	probably benign	Het
Sec23a	G	T	12: 59,025,345 (GRCm39)	A492E	probably damaging	Het
Skint4	T	A	4: 111,975,311 (GRCm39)	H82Q	probably benign	Het
Srbd1	T	C	17: 86,446,580 (GRCm39)	K60E	probably benign	Het
Stk24	A	G	14: 121,545,456 (GRCm39)	Y101H	probably damaging	Het
Sult1e1	A	T	5: 87,726,396 (GRCm39)	N239K	probably damaging	Het
Tgs1	C	T	4: 3,604,848 (GRCm39)	P757S	probably damaging	Het
Tmc2	A	T	2: 130,090,650 (GRCm39)	E665D	probably damaging	Het
Tmprss15	C	A	16: 78,875,846 (GRCm39)	D163Y	probably benign	Het
Unc13a	C	A	8: 72,101,625 (GRCm39)	V1009L	possibly damaging	Het
Unc45b	G	T	11: 82,819,496 (GRCm39)	G490C	probably damaging	Het
Vmn1r177	T	A	7: 23,565,765 (GRCm39)	H37L	probably damaging	Het
Vwa5a	A	G	9: 38,645,264 (GRCm39)	M450V	possibly damaging	Het
Wars2	T	C	3: 99,094,843 (GRCm39)	I46T	probably benign	Het
Wdfy3	G	T	5: 101,999,176 (GRCm39)	T3098K	possibly damaging	Het
Zan	A	T	5: 137,387,622 (GRCm39)	I4863N	unknown	Het
Zfp616	A	G	11: 73,974,064 (GRCm39)		probably null	Het
Zfp770	A	T	2: 114,027,514 (GRCm39)	I185N	probably damaging	Het
Zfp808	T	G	13: 62,320,821 (GRCm39)	H683Q	probably damaging	Het
Zmym4	A	T	4: 126,776,275 (GRCm39)	W1221R	probably damaging	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
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'- TCAAAGGCTGCCAACCTTTCCTG -3'
(R):5'- AGGGCACCAATGTCTCATTTCCTTC -3'

Sequencing Primer
(F):5'- AACCTTTCCTGAGCCCTACG -3'
(R):5'- ATCCcctcagccccagc -3'

Posted On

2014-03-14