Mutagenetix > Incidental Mutation

Incidental Mutation 'R8735:Cyp17a1'

663019

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 #

R8735 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

46667165-46672974 bp(-) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to C at 46671094 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000026012 (fasta)

Gene Model

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

AlphaFold

P27786

Predicted Effect

probably null
Transcript: ENSMUST00000026012

SMART Domains

Protein: ENSMUSP00000026012
Gene: ENSMUSG00000003555

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

0.9489

Coding Region Coverage

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

Validation Efficiency

99% (76/77)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310007B03Rik	C	T	1: 93,154,486		probably null	Het
6430550D23Rik	A	G	2: 156,003,811	F9S	unknown	Het
Abhd10	A	G	16: 45,737,634	F101L	probably damaging	Het
Acp2	A	G	2: 91,204,306	T93A	probably benign	Het
Adamts9	C	T	6: 92,860,067		probably benign	Het
Aknad1	T	A	3: 108,775,299		probably benign	Het
Ank3	A	T	10: 69,986,955	T485S	probably benign	Het
Caly	G	A	7: 140,072,590	R82C	probably damaging	Het
Cfhr2	A	G	1: 139,858,605	L8P	probably damaging	Het
Cpeb2	T	A	5: 43,281,432	L869*	probably null	Het
Cxxc1	A	G	18: 74,217,260	K33E	possibly damaging	Het
Cyp4a30b	G	A	4: 115,452,779	W59*	probably null	Het
Dennd4b	T	C	3: 90,277,865	V1204A	probably damaging	Het
Dpyd	T	A	3: 119,141,916	D663E	possibly damaging	Het
Esrrg	A	T	1: 188,201,008		probably benign	Het
Exoc2	A	C	13: 30,906,839	L261V	probably damaging	Het
Exosc9	T	C	3: 36,555,513	L185S	probably damaging	Het
Gcnt3	T	C	9: 70,034,446	K280R	probably benign	Het
Gm35339	T	C	15: 76,356,575	Y488H		Het
Ighv1-64	A	T	12: 115,507,597	M100K	probably benign	Het
Impdh2	G	A	9: 108,564,779		probably null	Het
Itsn2	T	A	12: 4,671,474	I1068K	probably damaging	Het
Kif5c	T	C	2: 49,694,771	C169R	probably damaging	Het
Kndc1	A	G	7: 139,910,214	S211G	probably benign	Het
Lama2	T	A	10: 27,190,534	E1117V	probably damaging	Het
Lgals4	C	T	7: 28,841,496	R282C	probably damaging	Het
Lsg1	T	A	16: 30,581,047		probably null	Het
Msh3	A	G	13: 92,274,866	S608P	possibly damaging	Het
Mslnl	T	A	17: 25,745,088	F464I	probably benign	Het
Mycbp2	T	A	14: 103,223,150	K1493N	probably damaging	Het
Myo15	A	T	11: 60,510,853		probably null	Het
Myo1b	A	T	1: 51,755,737	F1065I	probably benign	Het
Nf1	A	G	11: 79,454,310		probably benign	Het
Nup153	C	A	13: 46,727,551		probably benign	Het
Olfr1291-ps1	T	A	2: 111,500,152	I300K	probably damaging	Het
Olfr1447	A	G	19: 12,900,910	V290A	possibly damaging	Het
Osbpl7	A	G	11: 97,052,368	T149A	probably benign	Het
Parp1	A	G	1: 180,569,125	D31G	probably benign	Het
Pcdha6	T	A	18: 36,968,150	V132E	possibly damaging	Het
Pcdhb8	T	A	18: 37,356,922	L551Q	possibly damaging	Het
Pcsk9	T	A	4: 106,454,611	T190S	probably damaging	Het
Pdgfrb	A	T	18: 61,063,977	T162S	probably benign	Het
Pi4ka	C	T	16: 17,318,370	R908Q		Het
Pnpla8	A	G	12: 44,283,439	E258G	probably benign	Het
Prrc2c	A	T	1: 162,709,558	S643T	unknown	Het
Rnf20	T	G	4: 49,655,964	I970S	possibly damaging	Het
Robo2	A	T	16: 73,958,359	V758D	probably damaging	Het
Robo4	G	A	9: 37,408,281	S609N	possibly damaging	Het
Rrbp1	G	A	2: 143,989,000	Q416*	probably null	Het
Rsf1	GCG	GCGACGGCGACG	7: 97,579,907		probably benign	Het
Ryr2	C	A	13: 11,686,947	E2941D	probably damaging	Het
Scd2	G	T	19: 44,301,304	C246F	probably benign	Het
Sh3rf1	G	A	8: 61,372,653	V561I	probably benign	Het
Slc4a4	T	A	5: 89,132,442	D366E	probably damaging	Het
Slfn14	T	G	11: 83,283,889	Q92P	probably damaging	Het
Slfn4	A	T	11: 83,186,944	Y186F	probably damaging	Het
Smpd4	T	C	16: 17,635,546	L309P	possibly damaging	Het
Smyd3	G	T	1: 179,092,917	N217K	probably benign	Het
Spen	T	C	4: 141,469,818	T3547A	probably benign	Het
Suclg1	A	T	6: 73,276,746	I126F	unknown	Het
Tenm4	C	T	7: 96,905,941	P2618S	probably benign	Het
Tmprss15	A	T	16: 79,001,814	I660N	possibly damaging	Het
Trf	A	T	9: 103,210,524	V677D	probably damaging	Het
Trim36	T	C	18: 46,169,385	N532S	probably benign	Het
Trim37	T	C	11: 87,147,059		probably null	Het
Ttn	T	C	2: 76,740,110	N26813S	probably benign	Het
Vmn1r199	T	A	13: 22,383,367	V277D	probably damaging	Het
Wdfy3	T	C	5: 101,930,085	D873G	probably benign	Het
Wdr27	T	C	17: 14,883,667	T726A	probably damaging	Het
Wdtc1	A	T	4: 133,304,200	C236*	probably null	Het
Wnk4	A	C	11: 101,276,266	S1083R	unknown	Het
Wwc1	A	T	11: 35,883,407	I342N	probably damaging	Het
Zbtb40	A	G	4: 136,998,646	L534P	probably damaging	Het
Zfp62	T	C	11: 49,217,400	C773R	probably damaging	Het
Zfp709	T	A	8: 71,889,183	I152N	probably benign	Het
Zfp738	T	C	13: 67,671,431	Y147C	probably damaging	Het
Zscan18	A	C	7: 12,769,698	S645A	probably benign	Het
Zw10	A	G	9: 49,077,561	Y709C	probably 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
R8737:Cyp17a1	UTSW	19	46669727	missense	probably benign	0.09
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'- GCTAAGAAATGGCTGCACCC -3'
(R):5'- CAAATCCAGGGTTCTTTCTGTC -3'

Sequencing Primer
(F):5'- AGCCGCCCAGCATCCTTC -3'
(R):5'- AAATCCAGGGTTCTTTCTGTCTCCTC -3'

Posted On

2021-03-08