Mutagenetix > Incidental Mutation

Incidental Mutation 'R0384:Cyp19a1'

31177

Institutional Source

Beutler Lab

Gene Symbol

Cyp19a1

Ensembl Gene

ENSMUSG00000032274

Gene Name

cytochrome P450, family 19, subfamily a, polypeptide 1

Synonyms

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

MMRRC Submission

038590-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0384 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

54165937-54268110 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 54172741 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 265 (K265E)

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: K265E

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000034811
Gene: ENSMUSG00000032274
AA Change: K265E

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
AA Change: K198E

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.8%
20x: 91.7%

Validation Efficiency

100% (72/72)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam8	T	A	7: 139,986,812		probably benign	Het
Akr1b8	T	C	6: 34,364,330		probably benign	Het
Arhgef39	A	G	4: 43,498,613	L117P	probably damaging	Het
Atp13a1	A	T	8: 69,797,324	Q356L	possibly damaging	Het
Bmp2k	T	A	5: 97,031,125		probably benign	Het
Ccdc141	A	G	2: 77,027,648	V1063A	probably damaging	Het
Col20a1	T	C	2: 180,999,162	Y568H	probably benign	Het
Crabp2	T	C	3: 87,953,021	V134A	possibly damaging	Het
Cyp2j9	T	C	4: 96,585,885	H106R	probably benign	Het
Dcps	T	C	9: 35,175,943	K9R	probably damaging	Het
Dnajc6	C	T	4: 101,598,956	T47I	probably damaging	Het
Dnhd1	T	G	7: 105,720,114	S4315A	possibly damaging	Het
Dnmt3l	A	T	10: 78,052,737	I158F	possibly damaging	Het
Dock3	A	G	9: 106,901,895		probably benign	Het
Eefsec	A	G	6: 88,281,650		probably null	Het
Fam204a	T	C	19: 60,221,296	M1V	probably null	Het
Fam98b	T	C	2: 117,267,847	V266A	possibly damaging	Het
Fat2	A	T	11: 55,269,465	I3274N	possibly damaging	Het
Fbxo18	A	G	2: 11,749,578	I198T	probably damaging	Het
Fer	T	C	17: 63,924,184		probably benign	Het
Fhad1	T	A	4: 142,002,426	M89L	probably benign	Het
Fjx1	C	A	2: 102,451,107	C161F	probably damaging	Het
Fkbp7	T	A	2: 76,665,824		probably benign	Het
Gm42669	T	A	5: 107,508,798	C976S	probably benign	Het
Gm4845	T	C	1: 141,257,085		noncoding transcript	Het
Herc1	T	A	9: 66,481,050		probably benign	Het
Hook3	C	T	8: 26,044,235		probably null	Het
Idh2	C	T	7: 80,098,257	A232T	probably damaging	Het
Itga2b	A	T	11: 102,465,362		probably null	Het
Klk1b21	T	C	7: 44,105,493	Y71H	probably benign	Het
Kndc1	A	T	7: 139,910,599	N339I	possibly damaging	Het
Ky	C	T	9: 102,542,090	T432I	probably benign	Het
Map4	C	T	9: 110,034,628	T307I	probably damaging	Het
Matn1	T	C	4: 130,944,476	L18P	probably benign	Het
Mindy4	G	A	6: 55,216,684	D121N	probably damaging	Het
Mpv17l	A	T	16: 13,940,999	I96L	probably benign	Het
Msto1	G	A	3: 88,910,339	Q441*	probably null	Het
Muc5ac	A	G	7: 141,812,251	H2048R	possibly damaging	Het
Musk	T	C	4: 58,373,711	*879Q	probably null	Het
Nat8f2	T	C	6: 85,868,368	Y4C	possibly damaging	Het
Ncaph2	T	A	15: 89,369,391	I282N	probably benign	Het
Nid1	A	G	13: 13,463,836	T114A	probably benign	Het
Npr1	C	A	3: 90,465,167	G113C	probably damaging	Het
Nrxn1	G	A	17: 90,208,347	P193S	probably damaging	Het
Nwd2	T	C	5: 63,805,682	F870L	probably benign	Het
Olfr1076	T	A	2: 86,509,383	I308K	possibly damaging	Het
Olfr1228	A	G	2: 89,249,070	I208T	possibly damaging	Het
Olfr55	A	G	17: 33,176,548	I45V	probably damaging	Het
Olfr787	T	A	10: 129,463,040	Y121*	probably null	Het
Phf14	A	G	6: 11,997,020		probably benign	Het
Pnpla5	G	T	15: 84,120,719	L144M	probably damaging	Het
Prdm2	T	C	4: 143,135,688	E344G	probably benign	Het
Psmd12	T	C	11: 107,485,721	V61A	probably benign	Het
Relt	T	C	7: 100,847,505	D385G	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Scg2	T	A	1: 79,435,549	I446F	probably benign	Het
Sema3b	G	A	9: 107,600,966	L407F	probably damaging	Het
Slc25a13	A	T	6: 6,042,600	Y601*	probably null	Het
Sun5	C	T	2: 153,858,965	V270I	probably benign	Het
Tex52	A	G	6: 128,379,533	Y63C	probably damaging	Het
Tmem138	A	G	19: 10,574,822		probably benign	Het
Tnpo3	A	G	6: 29,582,164		probably null	Het
Tspoap1	A	T	11: 87,766,454	Q364L	probably damaging	Het
Ttc41	T	C	10: 86,763,947	L1037P	probably damaging	Het
Ugcg	T	A	4: 59,220,387	D393E	possibly damaging	Het
Vmn1r184	T	C	7: 26,267,651	I274T	probably benign	Het
Vmn2r27	A	G	6: 124,223,912	V362A	probably benign	Het
Vmn2r87	T	A	10: 130,471,843	Y842F	probably benign	Het
Vps8	T	A	16: 21,506,825		probably benign	Het

Other mutations in Cyp19a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01897:Cyp19a1	APN	9	54168529	missense	probably benign	0.03
IGL02885:Cyp19a1	APN	9	54171818	missense	probably benign	0.25
IGL02897:Cyp19a1	APN	9	54166911	missense	possibly damaging	0.95
R3104:Cyp19a1	UTSW	9	54186799	missense	probably benign	0.00
R4116:Cyp19a1	UTSW	9	54168741	missense	possibly damaging	0.94
R4158:Cyp19a1	UTSW	9	54186696	missense	probably damaging	1.00
R4160:Cyp19a1	UTSW	9	54186696	missense	probably damaging	1.00
R4555:Cyp19a1	UTSW	9	54166821	missense	probably damaging	0.96
R4569:Cyp19a1	UTSW	9	54193323	missense	probably benign	0.06
R4570:Cyp19a1	UTSW	9	54193323	missense	probably benign	0.06
R4693:Cyp19a1	UTSW	9	54173333	missense	possibly damaging	0.55
R4807:Cyp19a1	UTSW	9	54176646	missense	possibly damaging	0.89
R4853:Cyp19a1	UTSW	9	54166776	missense	probably benign
R4938:Cyp19a1	UTSW	9	54173363	missense	probably benign	0.01
R5272:Cyp19a1	UTSW	9	54176614	missense	probably benign	0.19
R6148:Cyp19a1	UTSW	9	54180256	missense	probably damaging	1.00
R7008:Cyp19a1	UTSW	9	54193325	missense	probably benign	0.35
R7472:Cyp19a1	UTSW	9	54166993	missense	possibly damaging	0.55
R7807:Cyp19a1	UTSW	9	54166842	missense	probably benign	0.06
R7841:Cyp19a1	UTSW	9	54171805	missense	probably benign	0.03
R8367:Cyp19a1	UTSW	9	54180259	missense	probably damaging	1.00
R8932:Cyp19a1	UTSW	9	54176577	missense	probably benign	0.00
R9674:Cyp19a1	UTSW	9	54166857	missense	possibly damaging	0.88
X0025:Cyp19a1	UTSW	9	54168568	missense	probably damaging	1.00
Z1176:Cyp19a1	UTSW	9	54176599	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGGGCTATCATAAGGCTGCTAGAGG -3'
(R):5'- ATTTGGCTGCACTGGGACAGAC -3'

Sequencing Primer
(F):5'- CAGGTGAGGAATTGTGGTTCATTC -3'
(R):5'- GCAGAATCTGTTTTGCTGGAAG -3'

Posted On

2013-04-24