Mutagenetix > Incidental Mutation

Incidental Mutation 'R6163:Cyp17a1'

490015

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.185) question?

Stock #

R6163 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

46655604-46661439 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 46657761 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 264 (I264F)

Ref Sequence

ENSEMBL: ENSMUSP00000026012 (fasta)

Gene Model

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

AlphaFold

P27786

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026012
AA Change: I264F

PolyPhen 2 Score 0.690 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000026012
Gene: ENSMUSG00000003555
AA Change: I264F

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: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.5%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	C	T	5: 144,982,098 (GRCm39)	Q228*	probably null	Het
Asic5	A	G	3: 81,913,833 (GRCm39)	N169S	probably damaging	Het
Atad2b	T	A	12: 5,004,593 (GRCm39)	L374H	probably benign	Het
Birc2	G	A	9: 7,819,036 (GRCm39)	T544I	probably benign	Het
Blm	GCCTCCTCCTCCTCCTCCTCCTCCTCCTCC	GCCTCCTCCTCCTCCTCCTCCTCCTCC	7: 80,162,652 (GRCm39)		probably benign	Het
Cc2d2b	C	T	19: 40,744,950 (GRCm39)	T23I	probably benign	Het
Ccdc137	G	T	11: 120,350,927 (GRCm39)	R108L	possibly damaging	Het
Cenpe	T	C	3: 134,974,764 (GRCm39)	I2308T	probably damaging	Het
Clec2m	C	T	6: 129,303,710 (GRCm39)	R85H	probably benign	Het
Cpt1b	T	C	15: 89,308,620 (GRCm39)	T103A	probably benign	Het
Cpvl	C	A	6: 53,850,503 (GRCm39)	V445F	probably damaging	Het
Cttnbp2	A	G	6: 18,434,950 (GRCm39)	S303P	possibly damaging	Het
Cyp51	T	A	5: 4,150,199 (GRCm39)	I175F	probably damaging	Het
Dennd4c	C	T	4: 86,723,828 (GRCm39)	P695S	possibly damaging	Het
Dlgap2	A	T	8: 14,896,641 (GRCm39)	Q1039L	probably damaging	Het
Dnah14	T	C	1: 181,493,926 (GRCm39)	L1694P	probably benign	Het
Dnah2	G	A	11: 69,411,729 (GRCm39)	Q298*	probably null	Het
Dsg2	G	T	18: 20,731,726 (GRCm39)		probably null	Het
Esr2	A	C	12: 76,168,643 (GRCm39)	V522G	probably damaging	Het
Fmo9	T	A	1: 166,494,962 (GRCm39)	H262L	probably benign	Het
Glb1l	T	A	1: 75,178,051 (GRCm39)	M373L	probably benign	Het
Gls	A	G	1: 52,254,735 (GRCm39)	S247P	probably benign	Het
Gm37240	T	A	3: 84,423,092 (GRCm39)	E213D	probably damaging	Het
Gmip	T	A	8: 70,270,022 (GRCm39)	V675E	probably benign	Het
Grb10	C	A	11: 11,893,932 (GRCm39)	E330*	probably null	Het
H2ac13	A	T	13: 21,900,859 (GRCm39)	N90Y	probably damaging	Het
Hivep2	A	G	10: 14,005,736 (GRCm39)	K778R	probably damaging	Het
Ighv1-26	T	C	12: 114,752,416 (GRCm39)	S4G	probably benign	Het
Igkv3-3	T	A	6: 70,664,257 (GRCm39)	V33E	possibly damaging	Het
Itga2	C	A	13: 115,002,726 (GRCm39)	G588V	probably damaging	Het
Itpr1	C	T	6: 108,365,245 (GRCm39)	H58Y	probably damaging	Het
Jmjd1c	T	A	10: 67,083,827 (GRCm39)	D2365E	possibly damaging	Het
Limk1	T	C	5: 134,686,809 (GRCm39)	Y518C	probably damaging	Het
Marchf6	G	C	15: 31,465,497 (GRCm39)	H802Q	probably benign	Het
Mark2	A	G	19: 7,268,126 (GRCm39)	S26P	probably benign	Het
Mdn1	T	A	4: 32,716,040 (GRCm39)	L2074Q	probably damaging	Het
Mrpl37	T	C	4: 106,921,793 (GRCm39)	E174G	possibly damaging	Het
Mtcl1	T	C	17: 66,686,326 (GRCm39)	H860R	probably benign	Het
Neurod1	A	G	2: 79,284,505 (GRCm39)	F293L	probably benign	Het
Nwd1	C	T	8: 73,388,814 (GRCm39)	R81W	probably damaging	Het
Nwd2	C	A	5: 63,963,131 (GRCm39)	A905E	probably benign	Het
Or14a260	A	T	7: 85,985,592 (GRCm39)	I4N	possibly damaging	Het
Or1x6	T	A	11: 50,939,595 (GRCm39)	Y220*	probably null	Het
Or5b12b	A	C	19: 12,861,472 (GRCm39)	T76P	probably damaging	Het
Or7e169	A	G	9: 19,757,024 (GRCm39)	I297T	probably benign	Het
Otop1	C	A	5: 38,445,234 (GRCm39)		probably null	Het
Otp	A	G	13: 95,012,288 (GRCm39)	H4R	probably damaging	Het
P4htm	A	C	9: 108,459,150 (GRCm39)	Y261D	probably damaging	Het
Pcsk5	A	T	19: 17,450,405 (GRCm39)	C1148S	probably damaging	Het
Plekhg1	A	T	10: 3,914,369 (GRCm39)	R1419W	probably damaging	Het
Pramel20	A	G	4: 143,298,605 (GRCm39)	K183E	probably damaging	Het
Prkd3	C	A	17: 79,273,784 (GRCm39)	D491Y	possibly damaging	Het
Prr11	A	C	11: 86,994,454 (GRCm39)	L64R	possibly damaging	Het
Pygo1	G	T	9: 72,851,980 (GRCm39)	A56S	probably damaging	Het
Rexo5	A	G	7: 119,404,470 (GRCm39)	T189A	probably damaging	Het
Rnf213	A	T	11: 119,349,254 (GRCm39)	H3784L	possibly damaging	Het
Rps6ka5	T	G	12: 100,562,179 (GRCm39)		probably null	Het
Slco2b1	T	A	7: 99,338,106 (GRCm39)	I93F	probably damaging	Het
Slfn8	T	C	11: 82,894,690 (GRCm39)	*408W	probably null	Het
Sptbn1	C	A	11: 30,109,443 (GRCm39)	E51*	probably null	Het
Ssc5d	T	A	7: 4,930,253 (GRCm39)	H111Q	probably damaging	Het
Sult1c2	T	C	17: 54,280,981 (GRCm39)	N41D	probably benign	Het
Taar8c	G	A	10: 23,977,116 (GRCm39)	T232I	probably benign	Het
Tdo2	T	C	3: 81,882,710 (GRCm39)	E2G	possibly damaging	Het
Tff2	T	C	17: 31,363,152 (GRCm39)	E24G	probably benign	Het
Tjp2	C	A	19: 24,103,068 (GRCm39)		probably null	Het
Tnfrsf1b	A	T	4: 144,946,477 (GRCm39)	D311E	probably benign	Het
Usp15	G	T	10: 123,004,210 (GRCm39)	N181K	probably damaging	Het
Vmn1r175	T	G	7: 23,508,591 (GRCm39)	E12A	possibly damaging	Het
Vmn1r47	T	C	6: 89,999,773 (GRCm39)	S302P	probably damaging	Het
Vmn2r58	A	G	7: 41,486,825 (GRCm39)	M690T	probably benign	Het
Wee1	T	A	7: 109,734,858 (GRCm39)	H465Q	probably damaging	Het
Zfr	C	T	15: 12,146,331 (GRCm39)	A294V	unknown	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
R3773:Cyp17a1	UTSW	19	46,658,162 (GRCm39)	missense	probably damaging	0.97
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
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'- TTGTGCACCAGGAAAGCCAG -3'
(R):5'- ACTGAAACAGTTCTTAGAGGGAC -3'

Sequencing Primer
(F):5'- GGATCCAGTTCAGCACAGAGC -3'
(R):5'- CAGTTCTTAGAGGGACATAGAGG -3'

Posted On

2017-10-10