Mutagenetix > Incidental Mutation

Incidental Mutation 'R7008:Cyp19a1'

544838

Institutional Source

Beutler Lab

Gene Symbol

Cyp19a1

Ensembl Gene

ENSMUSG00000032274

Gene Name

cytochrome P450, family 19, subfamily a, polypeptide 1

Synonyms

Int-5, p450arom, ArKO, Ar, aromatase, Int5, Cyp19

MMRRC Submission

045110-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7008 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

54073221-54175394 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 54100609 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 26 (M26K)

Ref Sequence

ENSEMBL: ENSMUSP00000034811 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034811] [ENSMUST00000215736]

AlphaFold

P28649

Predicted Effect

probably benign
Transcript: ENSMUST00000034811
AA Change: M26K

PolyPhen 2 Score 0.355 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000034811
Gene: ENSMUSG00000032274
AA Change: M26K

Domain	Start	End	E-Value	Type
low complexity region	28	38	N/A	INTRINSIC
Pfam:p450	46	488	1e-106	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000215736

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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 and catalyzes the last steps of estrogen biosynthesis. Mutations in this gene can result in either increased or decreased aromatase activity; the associated phenotypes suggest that estrogen functions both as a sex steroid hormone and in growth or differentiation. Alternative promoter use and alternative splicing results in multiple transcript variants that have different tissue specificities. [provided by RefSeq, Dec 2016]
PHENOTYPE: Mice homozygous for various mutations that inactivate the gene exhibit defects affecting fertility including impairments of ovulation, spermiogenesis and mounting behavior. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd17	T	A	5: 90,407,955 (GRCm39)	I1421F	possibly damaging	Het
Arhgef11	C	A	3: 87,636,525 (GRCm39)	T992K	possibly damaging	Het
Arid1b	T	C	17: 5,341,254 (GRCm39)	Y853H	probably damaging	Het
Bcl10	G	T	3: 145,639,054 (GRCm39)	R232L	probably benign	Het
Best2	T	A	8: 85,739,840 (GRCm39)	I76F	possibly damaging	Het
Card11	G	C	5: 140,859,148 (GRCm39)	R1133G	probably damaging	Het
Card9	T	C	2: 26,247,811 (GRCm39)	D180G	possibly damaging	Het
Ccdc162	T	A	10: 41,428,411 (GRCm39)	E119V	probably damaging	Het
Ccdc168	T	C	1: 44,098,785 (GRCm39)	D771G	probably benign	Het
Cd2bp2	T	C	7: 126,794,567 (GRCm39)	D15G	possibly damaging	Het
Cdk7	A	C	13: 100,854,129 (GRCm39)	M120R	probably damaging	Het
Cryba4	T	A	5: 112,399,648 (GRCm39)	T2S	probably benign	Het
Dgcr2	A	G	16: 17,662,865 (GRCm39)	S157P	probably damaging	Het
Dis3l	A	G	9: 64,217,735 (GRCm39)	F782S	possibly damaging	Het
Ephb4	T	A	5: 137,359,536 (GRCm39)	S369T	probably benign	Het
Fhad1	CGG	CG	4: 141,645,602 (GRCm39)		probably null	Het
H1f4	T	C	13: 23,806,192 (GRCm39)	K97E	probably damaging	Het
Igf2bp2	A	T	16: 21,900,582 (GRCm39)	D118E	probably benign	Het
Iqgap3	GGAGAG	GGAG	3: 88,020,078 (GRCm39)		probably null	Het
Klhl5	T	C	5: 65,300,592 (GRCm39)	S52P	probably benign	Het
Lrrc28	A	T	7: 67,245,459 (GRCm39)		probably benign	Het
Map4k4	T	G	1: 40,028,131 (GRCm39)	D317E	probably benign	Het
Maz	A	T	7: 126,623,784 (GRCm39)	C66S	probably damaging	Het
Mbd4	T	C	6: 115,827,685 (GRCm39)	T43A	possibly damaging	Het
Milr1	T	A	11: 106,642,140 (GRCm39)	S11T	probably damaging	Het
Mthfd2l	T	A	5: 91,107,587 (GRCm39)	C150S	probably damaging	Het
Nemf	A	T	12: 69,388,395 (GRCm39)	N325K	possibly damaging	Het
Nemf	C	T	12: 69,400,567 (GRCm39)		probably null	Het
Nod2	T	A	8: 89,390,285 (GRCm39)	C197*	probably null	Het
Odf2l	A	G	3: 144,838,495 (GRCm39)	K241E	probably damaging	Het
Or4z4	G	A	19: 12,076,214 (GRCm39)	T263I	possibly damaging	Het
Or5b124	A	T	19: 13,610,985 (GRCm39)	N170I	probably damaging	Het
Osbpl10	T	G	9: 114,890,916 (GRCm39)	D101E	probably damaging	Het
Osgin1	T	C	8: 120,168,233 (GRCm39)	V20A	possibly damaging	Het
Pan3	T	A	5: 147,482,503 (GRCm39)	C438S	probably damaging	Het
Plaa	A	G	4: 94,457,586 (GRCm39)	*795Q	probably null	Het
Prss35	T	C	9: 86,638,361 (GRCm39)	V377A	probably benign	Het
Rab5c	G	A	11: 100,610,789 (GRCm39)	R40C	probably damaging	Het
Rasl12	G	A	9: 65,318,151 (GRCm39)	V172M	probably damaging	Het
Rdh16f1	A	G	10: 127,626,775 (GRCm39)	H276R	probably benign	Het
Runx2	G	A	17: 45,125,079 (GRCm39)	P80L	probably damaging	Het
Sez6l	T	C	5: 112,612,561 (GRCm39)	Y460C	probably damaging	Het
Sipa1l1	T	G	12: 82,409,886 (GRCm39)	M600R	probably damaging	Het
Slc11a2	T	C	15: 100,307,205 (GRCm39)	Y92C	probably damaging	Het
Slc4a10	A	G	2: 62,117,266 (GRCm39)	T712A	probably benign	Het
Sntb1	A	T	15: 55,655,468 (GRCm39)	Y249*	probably null	Het
Spatc1	A	G	15: 76,167,923 (GRCm39)	I127M	probably benign	Het
Sting1	C	A	18: 35,868,224 (GRCm39)	R292L	probably damaging	Het
Synj1	A	T	16: 90,790,833 (GRCm39)	N109K	probably damaging	Het
Tdg	T	A	10: 82,484,475 (GRCm39)	M396K	possibly damaging	Het
Tmem252	T	C	19: 24,651,656 (GRCm39)	V75A	probably damaging	Het
Trim40	T	C	17: 37,194,868 (GRCm39)	Q142R	probably damaging	Het
Trip6	T	C	5: 137,311,228 (GRCm39)	T163A	probably damaging	Het
Ttn	T	C	2: 76,724,986 (GRCm39)		probably benign	Het
Wdr95	T	C	5: 149,535,005 (GRCm39)	L721P	probably benign	Het
Zfp385c	A	T	11: 100,521,513 (GRCm39)	D182E	probably damaging	Het
Zfp597	A	G	16: 3,683,631 (GRCm39)	F375S	probably benign	Het
Zfp658	T	G	7: 43,223,336 (GRCm39)	F537C	possibly damaging	Het
Zgrf1	T	C	3: 127,355,421 (GRCm39)	F216L	probably benign	Het

Other mutations in Cyp19a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01897:Cyp19a1	APN	9	54,075,813 (GRCm39)	missense	probably benign	0.03
IGL02885:Cyp19a1	APN	9	54,079,102 (GRCm39)	missense	probably benign	0.25
IGL02897:Cyp19a1	APN	9	54,074,195 (GRCm39)	missense	possibly damaging	0.95
R0384:Cyp19a1	UTSW	9	54,080,025 (GRCm39)	missense	probably benign	0.01
R3104:Cyp19a1	UTSW	9	54,094,083 (GRCm39)	missense	probably benign	0.00
R4116:Cyp19a1	UTSW	9	54,076,025 (GRCm39)	missense	possibly damaging	0.94
R4158:Cyp19a1	UTSW	9	54,093,980 (GRCm39)	missense	probably damaging	1.00
R4160:Cyp19a1	UTSW	9	54,093,980 (GRCm39)	missense	probably damaging	1.00
R4555:Cyp19a1	UTSW	9	54,074,105 (GRCm39)	missense	probably damaging	0.96
R4569:Cyp19a1	UTSW	9	54,100,607 (GRCm39)	missense	probably benign	0.06
R4570:Cyp19a1	UTSW	9	54,100,607 (GRCm39)	missense	probably benign	0.06
R4693:Cyp19a1	UTSW	9	54,080,617 (GRCm39)	missense	possibly damaging	0.55
R4807:Cyp19a1	UTSW	9	54,083,930 (GRCm39)	missense	possibly damaging	0.89
R4853:Cyp19a1	UTSW	9	54,074,060 (GRCm39)	missense	probably benign
R4938:Cyp19a1	UTSW	9	54,080,647 (GRCm39)	missense	probably benign	0.01
R5272:Cyp19a1	UTSW	9	54,083,898 (GRCm39)	missense	probably benign	0.19
R6148:Cyp19a1	UTSW	9	54,087,540 (GRCm39)	missense	probably damaging	1.00
R7472:Cyp19a1	UTSW	9	54,074,277 (GRCm39)	missense	possibly damaging	0.55
R7807:Cyp19a1	UTSW	9	54,074,126 (GRCm39)	missense	probably benign	0.06
R7841:Cyp19a1	UTSW	9	54,079,089 (GRCm39)	missense	probably benign	0.03
R8367:Cyp19a1	UTSW	9	54,087,543 (GRCm39)	missense	probably damaging	1.00
R8932:Cyp19a1	UTSW	9	54,083,861 (GRCm39)	missense	probably benign	0.00
R9674:Cyp19a1	UTSW	9	54,074,141 (GRCm39)	missense	possibly damaging	0.88
X0025:Cyp19a1	UTSW	9	54,075,852 (GRCm39)	missense	probably damaging	1.00
Z1176:Cyp19a1	UTSW	9	54,083,883 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GCTGTGCTTCTTCTTCGAAG -3'
(R):5'- AGCACCCTTCCAAGTGACAG -3'

Sequencing Primer
(F):5'- CCCGTGAAACTCTTTCTG -3'
(R):5'- TGGAAATGCTGAACCCCA -3'

Posted On

2019-05-13