Mutagenetix > Incidental Mutation

Incidental Mutation 'R8737:Cyp17a1'

663123

Institutional Source

Beutler Lab

Gene Symbol

Cyp17a1

Ensembl Gene

ENSMUSG00000003555

Gene Name

cytochrome P450, family 17, subfamily a, polypeptide 1

Synonyms

steroid 17-alpha hydroxylase, p450c17, Cyp17

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.172) question?

Stock #

R8737 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

46667165-46672974 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 46669727 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 249 (C249S)

Ref Sequence

ENSEMBL: ENSMUSP00000026012 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026012]

AlphaFold

P27786

Predicted Effect

probably benign
Transcript: ENSMUST00000026012
AA Change: C249S

PolyPhen 2 Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000026012
Gene: ENSMUSG00000003555
AA Change: C249S

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:p450	28	492	2.6e-140	PFAM

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (67/67)

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 endoplasmic reticulum. It has both 17alpha-hydroxylase and 17,20-lyase activities and is a key enzyme in the steroidogenic pathway that produces progestins, mineralocorticoids, glucocorticoids, androgens, and estrogens. Mutations in this gene are associated with isolated steroid-17 alpha-hydroxylase deficiency, 17-alpha-hydroxylase/17,20-lyase deficiency, pseudohermaphroditism, and adrenal hyperplasia. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null embryos display early embryonic lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833423E24Rik	T	A	2: 85,494,043		probably benign	Het
Aff3	T	A	1: 38,269,729	D375V	probably damaging	Het
Agfg1	C	G	1: 82,893,522	P492A	probably benign	Het
Asb13	T	C	13: 3,642,089	V23A	probably damaging	Het
Atxn1l	A	T	8: 109,733,598	C11S	probably damaging	Het
Bbs9	T	G	9: 22,678,948	S661A	probably benign	Het
Btrc	T	C	19: 45,507,759	V211A	probably damaging	Het
C130060K24Rik	A	G	6: 65,456,276	K360R	probably benign	Het
C87977	A	C	4: 144,208,622	L183R	probably damaging	Het
Camk1g	T	C	1: 193,348,486		probably null	Het
Capn11	A	T	17: 45,632,875	L578I	probably benign	Het
Cd82	A	T	2: 93,421,894	I124N	probably damaging	Het
Cdkl4	G	T	17: 80,550,829	H120Q	probably benign	Het
Cftr	T	C	6: 18,319,729	V1393A	probably damaging	Het
Col14a1	A	T	15: 55,455,310	R1402*	probably null	Het
Col6a3	T	G	1: 90,800,025	Y1960S	probably benign	Het
Col9a1	A	T	1: 24,185,046	Y103F	unknown	Het
Cux1	A	G	5: 136,282,942	V1180A	probably damaging	Het
Derl1	A	T	15: 57,892,172	W42R	probably benign	Het
Dhx36	C	A	3: 62,479,326	M668I	probably benign	Het
Dnah6	T	C	6: 73,067,445	K3228E	possibly damaging	Het
Dst	C	T	1: 34,228,669	A3050V	probably benign	Het
Efr3b	A	G	12: 3,999,594	Y70H	probably damaging	Het
Epb42	T	A	2: 121,025,843	T407S	possibly damaging	Het
Fap	T	A	2: 62,512,433	I608L	probably benign	Het
Fblim1	A	G	4: 141,583,076	Y292H	probably benign	Het
Fmod	A	G	1: 134,040,305	I28V	probably benign	Het
Gad2	T	A	2: 22,634,973	Y256*	probably null	Het
Gapdh	G	A	6: 125,162,054	A353V	probably benign	Het
Gm5460	T	G	14: 34,017,192	W44G	unknown	Het
Ino80e	A	T	7: 126,861,802	V91D	probably benign	Het
Iqgap2	G	A	13: 95,665,750	P896S	probably damaging	Het
Kif26b	T	A	1: 178,864,865	I457N	probably damaging	Het
Klc2	T	A	19: 5,118,449		probably benign	Het
Ldlrap1	C	A	4: 134,767,836	W22L	probably benign	Het
Matn3	A	G	12: 8,967,665	D439G	possibly damaging	Het
Met	T	C	6: 17,540,511	L812P	probably benign	Het
Mki67	A	T	7: 135,713,775	I90N	probably damaging	Het
Mptx2	A	C	1: 173,277,689	S12A	probably benign	Het
Mrgpra9	G	T	7: 47,235,876	N14K	probably benign	Het
Nbeal2	G	A	9: 110,627,881	R2350C	probably damaging	Het
Nsmaf	A	G	4: 6,396,748	I913T	probably benign	Het
Nuggc	G	T	14: 65,645,086	C760F	probably benign	Het
Olfr1215	C	A	2: 89,002,007	E94*	probably null	Het
Olfr1392	T	A	11: 49,294,138	F272L	probably damaging	Het
Olfr341	T	A	2: 36,479,617	N171I	probably benign	Het
Olfr512	T	A	7: 108,713,757	F135I	probably damaging	Het
Olfr65	A	G	7: 103,906,706	N86S		Het
Pdgfrb	C	T	18: 61,081,001	P953S	probably damaging	Het
Pemt	T	G	11: 59,983,459	I102L	probably benign	Het
Pla2g4c	G	T	7: 13,335,229	M109I	probably benign	Het
Pla2g4d	T	A	2: 120,269,985	Y622F	probably damaging	Het
Pmpca	T	A	2: 26,393,519	V400D	probably damaging	Het
Pnpt1	G	C	11: 29,154,815		probably null	Het
Prrc1	T	A	18: 57,363,336	S120T	possibly damaging	Het
Prrx2	T	G	2: 30,878,566	V135G	probably damaging	Het
Recql4	T	C	15: 76,708,854	N352S	probably benign	Het
Sftpa1	T	C	14: 41,134,087	S130P	probably damaging	Het
Slc35e2	T	C	4: 155,610,585	L136P	probably benign	Het
Tarbp2	T	A	15: 102,521,767	S155T	probably benign	Het
Tenm4	C	T	7: 96,905,941	P2618S	probably benign	Het
Tmem116	A	T	5: 121,482,370	Y146F		Het
Ttc17	C	T	2: 94,376,029		probably null	Het
Vmn2r114	G	A	17: 23,310,168	T320I	probably benign	Het
Vmn2r69	A	T	7: 85,406,575	V785D	probably damaging	Het
Vmn2r89	T	A	14: 51,456,265	N357K	probably damaging	Het
Zfp811	A	T	17: 32,798,223	L281Q	possibly damaging	Het

Other mutations in Cyp17a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01524:Cyp17a1	APN	19	46671056	missense	probably benign	0.00
IGL01839:Cyp17a1	APN	19	46670671	missense	possibly damaging	0.89
IGL01901:Cyp17a1	APN	19	46671092	missense	possibly damaging	0.64
IGL02033:Cyp17a1	APN	19	46672607	nonsense	probably null
IGL02349:Cyp17a1	APN	19	46667497	missense	probably damaging	1.00
IGL02663:Cyp17a1	APN	19	46672566	missense	probably damaging	1.00
IGL02883:Cyp17a1	APN	19	46669351	missense	probably benign	0.00
IGL03092:Cyp17a1	APN	19	46672611	missense	possibly damaging	0.79
IGL03239:Cyp17a1	APN	19	46667357	missense	probably damaging	1.00
IGL03336:Cyp17a1	APN	19	46671035	missense	probably benign	0.00
R3773:Cyp17a1	UTSW	19	46669723	missense	probably damaging	0.97
R4445:Cyp17a1	UTSW	19	46668023	missense	probably damaging	1.00
R4446:Cyp17a1	UTSW	19	46668023	missense	probably damaging	1.00
R4572:Cyp17a1	UTSW	19	46670551	missense	probably damaging	1.00
R5544:Cyp17a1	UTSW	19	46672654	missense	probably damaging	1.00
R5730:Cyp17a1	UTSW	19	46672656	missense	possibly damaging	0.49
R6163:Cyp17a1	UTSW	19	46669322	missense	possibly damaging	0.69
R6271:Cyp17a1	UTSW	19	46672720	missense	probably benign	0.17
R6728:Cyp17a1	UTSW	19	46669234	missense	probably benign
R6729:Cyp17a1	UTSW	19	46670581	missense	probably benign
R7025:Cyp17a1	UTSW	19	46670980	missense	probably damaging	0.98
R7395:Cyp17a1	UTSW	19	46670695	missense	probably benign
R8056:Cyp17a1	UTSW	19	46670591	missense	possibly damaging	0.95
R8308:Cyp17a1	UTSW	19	46668077	missense	probably benign	0.09
R8735:Cyp17a1	UTSW	19	46671094	critical splice acceptor site	probably null
R9091:Cyp17a1	UTSW	19	46667591	missense	probably benign	0.00
R9270:Cyp17a1	UTSW	19	46667591	missense	probably benign	0.00
R9364:Cyp17a1	UTSW	19	46668726	missense	probably damaging	1.00
R9554:Cyp17a1	UTSW	19	46668726	missense	probably damaging	1.00
X0020:Cyp17a1	UTSW	19	46671020	missense	possibly damaging	0.88
Z1177:Cyp17a1	UTSW	19	46672659	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- GGAGCCTCACTTCCAACATC -3'
(R):5'- AGACTGGCGTGGAGACTTTC -3'

Sequencing Primer
(F):5'- ATGTCCCTCTAAGAACTGTTTCAG -3'
(R):5'- GCGTGGAGACTTTCTTAAACC -3'

Posted On

2021-03-08