Mutagenetix > Incidental Mutation

Incidental Mutation 'R7025:Cyp17a1'

545936

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

045126-MU

Accession Numbers

Essential gene?

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

Stock #

R7025 (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 46659419 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 137 (D137V)

Ref Sequence

ENSEMBL: ENSMUSP00000026012 (fasta)

Gene Model

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

AlphaFold

P27786

Predicted Effect

probably damaging
Transcript: ENSMUST00000026012
AA Change: D137V

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000026012
Gene: ENSMUSG00000003555
AA Change: D137V

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: 100.0%
10x: 99.6%
20x: 98.8%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd4	T	A	11: 102,995,364 (GRCm39)	L90M	probably damaging	Het
Acot7	T	C	4: 152,262,646 (GRCm39)	S7P	unknown	Het
Ahcyl2	T	C	6: 29,908,420 (GRCm39)	Y388H	probably damaging	Het
Atp1a2	T	A	1: 172,112,117 (GRCm39)	R593*	probably null	Het
Bicral	T	C	17: 47,112,594 (GRCm39)	T869A	probably benign	Het
Brca2	C	T	5: 150,463,943 (GRCm39)	P1236S	probably benign	Het
Cacna2d1	C	T	5: 16,557,666 (GRCm39)	Q699*	probably null	Het
Ccser2	T	C	14: 36,661,964 (GRCm39)	N407D	probably damaging	Het
Cd300lg	A	G	11: 101,933,900 (GRCm39)	Y49C	probably damaging	Het
Cdh12	C	A	15: 21,358,900 (GRCm39)	T108K	probably damaging	Het
Ctnnd1	A	T	2: 84,440,950 (GRCm39)	I715K	possibly damaging	Het
Dbr1	A	G	9: 99,458,036 (GRCm39)	T19A	probably damaging	Het
Dnah3	C	T	7: 119,629,233 (GRCm39)	A1441T	possibly damaging	Het
Dpt	G	A	1: 164,624,508 (GRCm39)	D70N	probably damaging	Het
Elk4	C	A	1: 131,947,107 (GRCm39)	P366Q	probably damaging	Het
Eml4	A	C	17: 83,732,740 (GRCm39)	D131A	probably benign	Het
Faap24	A	G	7: 35,092,296 (GRCm39)	I207T	possibly damaging	Het
Fam219a	T	C	4: 41,521,925 (GRCm39)	S41G	probably benign	Het
Gask1b	T	C	3: 79,793,855 (GRCm39)	Y108H	probably damaging	Het
Ifi203	T	C	1: 173,755,951 (GRCm39)		probably benign	Het
Inpp4a	T	C	1: 37,408,504 (GRCm39)	V295A	probably benign	Het
Kif2a	A	G	13: 107,119,102 (GRCm39)	Y267H	probably damaging	Het
Kprp	T	A	3: 92,732,504 (GRCm39)	Q182L	probably benign	Het
Krt90	T	C	15: 101,465,610 (GRCm39)	K337R	possibly damaging	Het
Lrp2	T	A	2: 69,313,372 (GRCm39)	Y2453F	possibly damaging	Het
Magel2	A	C	7: 62,029,535 (GRCm39)	Y813S	unknown	Het
Myh7	C	A	14: 55,212,101 (GRCm39)	E1548*	probably null	Het
Myh8	A	G	11: 67,188,365 (GRCm39)	T1009A	probably benign	Het
Nab2	T	A	10: 127,502,377 (GRCm39)		probably benign	Het
Neb	T	C	2: 52,186,285 (GRCm39)	D929G	possibly damaging	Het
Nelfb	A	C	2: 25,100,505 (GRCm39)	V155G	probably damaging	Het
Nmur1	C	A	1: 86,315,570 (GRCm39)	M65I	possibly damaging	Het
Nop56	C	T	2: 130,119,801 (GRCm39)	R81*	probably null	Het
Npnt	C	T	3: 132,614,157 (GRCm39)	C47Y	probably damaging	Het
Nrp1	G	T	8: 129,207,435 (GRCm39)	C610F	probably damaging	Het
Or4a71	T	A	2: 89,357,948 (GRCm39)	I269F	probably damaging	Het
Or5d45	T	C	2: 88,153,606 (GRCm39)	K148E	probably damaging	Het
Or6c63-ps1	T	A	10: 128,900,544 (GRCm39)	M1L	probably benign	Het
Pax5	G	A	4: 44,679,501 (GRCm39)	Q93*	probably null	Het
Pcnt	G	T	10: 76,239,669 (GRCm39)	Q1273K	probably damaging	Het
Pde4dip	G	A	3: 97,631,499 (GRCm39)	Q1137*	probably null	Het
Pfas	A	T	11: 68,881,586 (GRCm39)	D959E	probably benign	Het
Pira13	T	A	7: 3,824,261 (GRCm39)	K629*	probably null	Het
Prex1	TCCGACCCC	TCCGACCCCGACCCC	2: 166,455,107 (GRCm39)		probably benign	Het
Prpf40b	C	T	15: 99,204,281 (GRCm39)	Q182*	probably null	Het
Ptk2	G	A	15: 73,093,658 (GRCm39)	P854S	possibly damaging	Het
Rpe65	A	C	3: 159,328,322 (GRCm39)	E406A	probably damaging	Het
Serpina3k	A	T	12: 104,307,401 (GRCm39)	Y211F	probably benign	Het
Shkbp1	T	C	7: 27,054,706 (GRCm39)	I65V	possibly damaging	Het
Slc22a29	G	A	19: 8,137,944 (GRCm39)	P544S	probably benign	Het
Stab2	T	C	10: 86,686,701 (GRCm39)	D2281G	probably damaging	Het
Tjp2	A	G	19: 24,110,052 (GRCm39)	M64T	probably benign	Het
Tnfrsf8	C	T	4: 145,000,973 (GRCm39)	V378I	possibly damaging	Het
Trpm1	A	T	7: 63,876,462 (GRCm39)		probably null	Het
Ubqln3	A	G	7: 103,790,482 (GRCm39)	I536T	probably benign	Het
Vmn1r44	A	G	6: 89,870,736 (GRCm39)	T161A	possibly damaging	Het
Vmn2r108	T	A	17: 20,691,345 (GRCm39)	I393F	possibly damaging	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
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
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'- AGGGATCAGTCAACGCTGTC -3'
(R):5'- GGGATCTCACAGCACTCATCAG -3'

Sequencing Primer
(F):5'- AGTCAACGCTGTCGCCTCTG -3'
(R):5'- GCACTCATCAGGACTGCAGATAG -3'

Posted On

2019-05-13