Mutagenetix > Incidental Mutation

Incidental Mutation 'R3773:Cyp17a1'

273478

Institutional Source

Beutler Lab

Gene Symbol

Cyp17a1

Ensembl Gene

ENSMUSG00000003555

Gene Name

cytochrome P450, family 17, subfamily a, polypeptide 1

Synonyms

p450c17, Cyp17, steroid 17-alpha hydroxylase

MMRRC Submission

040749-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.190) question?

Stock #

R3773 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

46655604-46661439 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 46658162 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Threonine at position 250 (K250T)

Ref Sequence

ENSEMBL: ENSMUSP00000026012 (fasta)

Gene Model

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

AlphaFold

P27786

Predicted Effect

probably damaging
Transcript: ENSMUST00000026012
AA Change: K250T

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000026012
Gene: ENSMUSG00000003555
AA Change: K250T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131142

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156577

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182599

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	A	6: 128,532,046 (GRCm39)	K899N	probably benign	Het
Acsbg3	T	C	17: 57,183,262 (GRCm39)	M1T	probably null	Het
Adgrv1	G	A	13: 81,647,162 (GRCm39)	S3126L	probably damaging	Het
Apba3	C	A	10: 81,108,443 (GRCm39)		probably null	Het
Apobec4	G	T	1: 152,632,556 (GRCm39)	A195S	probably benign	Het
Asap3	C	T	4: 135,954,886 (GRCm39)	T72I	probably benign	Het
Cand2	T	A	6: 115,762,178 (GRCm39)	H201Q	probably damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Chd1	A	G	17: 17,594,913 (GRCm39)	D16G	probably damaging	Het
Csgalnact2	T	C	6: 118,103,180 (GRCm39)	K19E	probably benign	Het
Cspg4b	A	G	13: 113,454,743 (GRCm39)	E263G	probably benign	Het
Ddx41	G	A	13: 55,682,293 (GRCm39)	R205W	possibly damaging	Het
Dgcr8	T	C	16: 18,074,639 (GRCm39)	D712G	probably damaging	Het
Dsg2	T	C	18: 20,724,919 (GRCm39)	W442R	probably damaging	Het
Elavl2	C	T	4: 91,152,325 (GRCm39)	G131R	probably damaging	Het
Elf1	T	C	14: 79,804,650 (GRCm39)	V105A	possibly damaging	Het
Ercc6l2	A	G	13: 63,989,264 (GRCm39)	D270G	probably damaging	Het
Fmn1	T	G	2: 113,412,463 (GRCm39)	S996A	probably damaging	Het
Frmd4a	A	T	2: 4,595,433 (GRCm39)	E109D	probably damaging	Het
Fry	A	T	5: 150,321,663 (GRCm39)	R999S	probably damaging	Het
Gak	G	A	5: 108,730,538 (GRCm39)	T956I	probably benign	Het
Gps2	T	C	11: 69,806,927 (GRCm39)	F21L	probably damaging	Het
Grhl3	C	T	4: 135,283,158 (GRCm39)	W303*	probably null	Het
Hmcn2	C	T	2: 31,250,908 (GRCm39)	T790M	probably damaging	Het
Lrp5	G	A	19: 3,662,330 (GRCm39)	R173C	probably damaging	Het
Matk	T	A	10: 81,094,131 (GRCm39)	L21Q	probably benign	Het
Mthfr	T	C	4: 148,128,907 (GRCm39)	V160A	probably benign	Het
Nhlrc4	T	A	17: 26,162,367 (GRCm39)	K127*	probably null	Het
Nsd1	G	A	13: 55,394,486 (GRCm39)	V696I	probably benign	Het
Nup210l	T	G	3: 90,027,201 (GRCm39)	Y194*	probably null	Het
Or1j16	A	T	2: 36,530,333 (GRCm39)	Y94F	probably benign	Het
Or2h2	G	T	17: 37,396,957 (GRCm39)	Y33*	probably null	Het
Or7a41	G	A	10: 78,871,014 (GRCm39)	C128Y	possibly damaging	Het
Or9q2	T	A	19: 13,772,568 (GRCm39)	M136L	probably benign	Het
Pcdhb15	T	A	18: 37,608,943 (GRCm39)	V725D	probably benign	Het
Pes1	A	G	11: 3,925,548 (GRCm39)	Y221C	probably damaging	Het
Prkd3	T	C	17: 79,266,535 (GRCm39)	I603V	possibly damaging	Het
Ptpn13	A	G	5: 103,624,987 (GRCm39)	E97G	probably damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Ptprs	T	C	17: 56,735,978 (GRCm39)	T152A	possibly damaging	Het
Rims1	T	C	1: 22,492,034 (GRCm39)	D842G	probably damaging	Het
Rin2	C	T	2: 145,702,366 (GRCm39)	T354I	probably benign	Het
Rnf26rt	C	T	6: 76,473,942 (GRCm39)	V225I	probably benign	Het
Rngtt	T	C	4: 33,330,889 (GRCm39)	I164T	probably damaging	Het
Scn9a	T	C	2: 66,313,992 (GRCm39)	N1909D	probably benign	Het
Shisal1	A	T	15: 84,290,886 (GRCm39)	Y120*	probably null	Het
Ska3	C	T	14: 58,047,534 (GRCm39)	V334I	probably benign	Het
Slco1a8	T	C	6: 141,918,061 (GRCm39)	K605R	probably benign	Het
Srebf2	A	G	15: 82,066,309 (GRCm39)	K579R	probably benign	Het
Stxbp5	G	A	10: 9,644,671 (GRCm39)	T960I	probably damaging	Het
Suco	A	T	1: 161,671,565 (GRCm39)		probably null	Het
Tecta	T	C	9: 42,242,292 (GRCm39)	T2094A	probably damaging	Het
Tenm4	A	T	7: 96,344,087 (GRCm39)	R227W	probably damaging	Het
Tmem131l	A	G	3: 83,805,893 (GRCm39)	S1517P	probably damaging	Het
Trio	A	G	15: 27,748,177 (GRCm39)	S2492P	probably damaging	Het
Tsg101	T	C	7: 46,539,363 (GRCm39)	*254W	probably null	Het
Ttn	T	C	2: 76,601,711 (GRCm39)	T16872A	probably benign	Het
Ugt2b38	A	G	5: 87,571,954 (GRCm39)	V26A	probably damaging	Het
Upb1	T	A	10: 75,275,672 (GRCm39)		probably null	Het
Vmn1r32	T	A	6: 66,530,351 (GRCm39)	I142F	probably benign	Het
Vmn1r60	C	A	7: 5,547,710 (GRCm39)	C130F	possibly damaging	Het
Vmn2r101	A	G	17: 19,809,919 (GRCm39)	D235G	probably benign	Het
Wnk1	C	T	6: 119,979,241 (GRCm39)	R282Q	possibly damaging	Het
Xrn2	T	C	2: 146,903,207 (GRCm39)	V765A	probably benign	Het
Zbed4	T	C	15: 88,665,050 (GRCm39)	S373P	probably benign	Het
Zfp251	A	G	15: 76,737,836 (GRCm39)	I414T	possibly damaging	Het
Zfp423	A	T	8: 88,507,140 (GRCm39)	L1047Q	probably benign	Het
Zfp426	A	T	9: 20,384,413 (GRCm39)		probably null	Het
Zfp61	T	C	7: 23,995,406 (GRCm39)	M1V	probably null	Het

Other mutations in Cyp17a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01524:Cyp17a1	APN	19	46,659,495 (GRCm39)	missense	probably benign	0.00
IGL01839:Cyp17a1	APN	19	46,659,110 (GRCm39)	missense	possibly damaging	0.89
IGL01901:Cyp17a1	APN	19	46,659,531 (GRCm39)	missense	possibly damaging	0.64
IGL02033:Cyp17a1	APN	19	46,661,046 (GRCm39)	nonsense	probably null
IGL02349:Cyp17a1	APN	19	46,655,936 (GRCm39)	missense	probably damaging	1.00
IGL02663:Cyp17a1	APN	19	46,661,005 (GRCm39)	missense	probably damaging	1.00
IGL02883:Cyp17a1	APN	19	46,657,790 (GRCm39)	missense	probably benign	0.00
IGL03092:Cyp17a1	APN	19	46,661,050 (GRCm39)	missense	possibly damaging	0.79
IGL03239:Cyp17a1	APN	19	46,655,796 (GRCm39)	missense	probably damaging	1.00
IGL03336:Cyp17a1	APN	19	46,659,474 (GRCm39)	missense	probably benign	0.00
R4445:Cyp17a1	UTSW	19	46,656,462 (GRCm39)	missense	probably damaging	1.00
R4446:Cyp17a1	UTSW	19	46,656,462 (GRCm39)	missense	probably damaging	1.00
R4572:Cyp17a1	UTSW	19	46,658,990 (GRCm39)	missense	probably damaging	1.00
R5544:Cyp17a1	UTSW	19	46,661,093 (GRCm39)	missense	probably damaging	1.00
R5730:Cyp17a1	UTSW	19	46,661,095 (GRCm39)	missense	possibly damaging	0.49
R6163:Cyp17a1	UTSW	19	46,657,761 (GRCm39)	missense	possibly damaging	0.69
R6271:Cyp17a1	UTSW	19	46,661,159 (GRCm39)	missense	probably benign	0.17
R6728:Cyp17a1	UTSW	19	46,657,673 (GRCm39)	missense	probably benign
R6729:Cyp17a1	UTSW	19	46,659,020 (GRCm39)	missense	probably benign
R7025:Cyp17a1	UTSW	19	46,659,419 (GRCm39)	missense	probably damaging	0.98
R7395:Cyp17a1	UTSW	19	46,659,134 (GRCm39)	missense	probably benign
R8056:Cyp17a1	UTSW	19	46,659,030 (GRCm39)	missense	possibly damaging	0.95
R8308:Cyp17a1	UTSW	19	46,656,516 (GRCm39)	missense	probably benign	0.09
R8735:Cyp17a1	UTSW	19	46,659,533 (GRCm39)	critical splice acceptor site	probably null
R8737:Cyp17a1	UTSW	19	46,658,166 (GRCm39)	missense	probably benign	0.09
R9091:Cyp17a1	UTSW	19	46,656,030 (GRCm39)	missense	probably benign	0.00
R9270:Cyp17a1	UTSW	19	46,656,030 (GRCm39)	missense	probably benign	0.00
R9364:Cyp17a1	UTSW	19	46,657,165 (GRCm39)	missense	probably damaging	1.00
R9554:Cyp17a1	UTSW	19	46,657,165 (GRCm39)	missense	probably damaging	1.00
X0020:Cyp17a1	UTSW	19	46,659,459 (GRCm39)	missense	possibly damaging	0.88
Z1177:Cyp17a1	UTSW	19	46,661,098 (GRCm39)	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

2015-03-25