Mutagenetix > Incidental Mutation

Incidental Mutation 'R9554:Cyp17a1'

720695

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: 0.201) question?

Stock #

R9554 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

46667165-46672974 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 46668726 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 361 (R361H)

Ref Sequence

ENSEMBL: ENSMUSP00000026012 (fasta)

Gene Model

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

AlphaFold

P27786

Predicted Effect

probably damaging
Transcript: ENSMUST00000026012
AA Change: R361H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000026012
Gene: ENSMUSG00000003555
AA Change: R361H

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

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 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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	T	C	11: 110,138,281	E817G	probably benign	Het
Abhd12b	A	G	12: 70,169,214	T182A	probably benign	Het
Allc	A	T	12: 28,557,415	C279*	probably null	Het
Ang	A	G	14: 51,101,519	D39G	probably damaging	Het
Atp8b3	G	A	10: 80,524,363	T958M	probably damaging	Het
Ccnyl1	A	G	1: 64,714,591	Y187C	probably damaging	Het
Chd3	A	T	11: 69,360,189	W616R	probably damaging	Het
Cyp2t4	G	A	7: 27,155,292	V66M	possibly damaging	Het
Dcp1a	A	G	14: 30,479,734	Q38R	probably benign	Het
Ddias	T	C	7: 92,858,352	N785S	probably benign	Het
Depdc5	A	G	5: 32,964,732	N1133S	probably benign	Het
Dhx8	T	A	11: 101,754,788	Y877*	probably null	Het
Dlk1	G	A	12: 109,454,963	V15I	unknown	Het
Fam120b	G	A	17: 15,405,758	A458T	possibly damaging	Het
Fam160a2	C	A	7: 105,389,708	R108L	probably damaging	Het
Fgd4	G	A	16: 16,490,489	T9I	probably benign	Het
Gfpt1	C	T	6: 87,085,341	R561W	probably damaging	Het
Gm4788	A	T	1: 139,740,431	S321R	probably benign	Het
Gm5773	A	G	3: 93,773,033	D4G	probably benign	Het
Helz2	T	A	2: 181,240,677	T108S	probably damaging	Het
Hivep1	G	A	13: 42,154,775	D164N	possibly damaging	Het
Kif15	G	T	9: 122,999,520	L902F	probably damaging	Het
Lrp2	T	A	2: 69,431,153	R4481S	probably damaging	Het
Mcm3ap	T	C	10: 76,496,476	V1209A	probably damaging	Het
Mkrn1	C	T	6: 39,399,904	R377H	probably benign	Het
Ms4a4a	G	A	19: 11,390,344	M191I	probably benign	Het
Myh11	T	A	16: 14,200,716	N1922I		Het
Nbeal1	C	T	1: 60,251,128	Q998*	probably null	Het
Neil3	C	A	8: 53,608,735	G204C	probably damaging	Het
Nsmce1	T	C	7: 125,467,822	E262G	possibly damaging	Het
Oc90	G	A	15: 65,889,588	P194S	probably benign	Het
Olfr1246	C	A	2: 89,590,366	V250F	probably damaging	Het
Olfr1375	T	A	11: 51,048,396	Y96*	probably null	Het
Olfr169	T	A	16: 19,565,972	I304F	possibly damaging	Het
Olfr495	A	G	7: 108,395,158	T13A	probably benign	Het
Olfr578	A	T	7: 102,984,567	I199N	probably damaging	Het
Olfr819	A	T	10: 129,966,312	F123L	probably benign	Het
Olfr945	A	C	9: 39,258,460	F71V	possibly damaging	Het
Olfr984	T	A	9: 40,100,864	M209L	probably benign	Het
Oplah	A	G	15: 76,309,587	S57P	probably benign	Het
Pdzd8	A	T	19: 59,345,142	L149Q	probably damaging	Het
Pid1	A	G	1: 84,159,311	V33A	probably benign	Het
Polr3gl	A	G	3: 96,581,721	V60A	possibly damaging	Het
Prdm1	A	G	10: 44,441,246	V527A	probably benign	Het
Sbf2	T	C	7: 110,441,464	I385M	probably damaging	Het
Setbp1	C	T	18: 78,783,384	S1338N	probably benign	Het
Sh2b2	T	C	5: 136,224,152	T389A	probably benign	Het
Skint9	A	T	4: 112,391,718	M171K	probably benign	Het
Slx4	C	A	16: 3,987,956	M577I	probably benign	Het
Srcap	T	C	7: 127,552,405	S2092P	probably damaging	Het
Traf6	T	A	2: 101,688,608	H147Q	probably benign	Het
Ttn	T	A	2: 76,717,349	E32159V	possibly damaging	Het
Ubn1	T	C	16: 5,070,628	S154P	unknown	Het
Uchl1	T	A	5: 66,676,306	M6K	probably damaging	Het
Vmn1r193	A	T	13: 22,219,819	M1K	probably null	Het
Wisp1	G	A	15: 66,913,051	R191K	probably benign	Het
Zfp429	T	A	13: 67,390,412	K304N	probably benign	Het
Zfp607b	T	A	7: 27,703,039	S307T	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
R8735:Cyp17a1	UTSW	19	46671094	critical splice acceptor site	probably null
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
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'- GCAGCAGGAGTCTCTGTTTG -3'
(R):5'- AGAATCATTCAGGCTGTTCTGGG -3'

Sequencing Primer
(F):5'- CAGCAGGAGTCTCTGTTTGACTATAG -3'
(R):5'- AGGCTGTTCTGGGTATGACCAC -3'

Posted On

2022-08-09