Mutagenetix > Incidental Mutation

Incidental Mutation 'R7472:Cyp19a1'

581300

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

045546-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7472 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

54073221-54175394 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 54074277 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 426 (Y426H)

Ref Sequence

ENSEMBL: ENSMUSP00000034811 (fasta)

Gene Model

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

AlphaFold

P28649

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034811
AA Change: Y426H

PolyPhen 2 Score 0.547 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000034811
Gene: ENSMUSG00000032274
AA Change: Y426H

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215736
AA Change: Y359H

PolyPhen 2 Score 0.547 (Sensitivity: 0.88; Specificity: 0.91)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

99% (99/100)

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	A	G	2: 19,545,219 (GRCm39)	I78T	probably benign	Het
4921524J17Rik	G	A	8: 86,159,438 (GRCm39)		probably benign	Het
4932438H23Rik	T	C	16: 90,852,744 (GRCm39)	T131A	probably benign	Het
Acbd6	G	T	1: 155,463,213 (GRCm39)	E138*	probably null	Het
Ago3	A	G	4: 126,239,310 (GRCm39)	V847A	probably damaging	Het
Akap13	G	A	7: 75,380,213 (GRCm39)	R462H	probably damaging	Het
Als2cl	C	A	9: 110,727,174 (GRCm39)	H913Q	probably benign	Het
Atf6	A	C	1: 170,643,060 (GRCm39)	S360R	possibly damaging	Het
Atm	G	C	9: 53,359,425 (GRCm39)	N2789K	possibly damaging	Het
Bhlhe40	TG	TGG	6: 108,641,818 (GRCm39)	254	probably null	Het
Bpifa6	A	T	2: 153,831,249 (GRCm39)	I272F	possibly damaging	Het
Cabin1	G	T	10: 75,494,481 (GRCm39)	P1633T	probably damaging	Het
Camsap2	A	G	1: 136,209,131 (GRCm39)	V119A	probably damaging	Het
Ccdc40	A	G	11: 119,153,974 (GRCm39)	E1082G	probably benign	Het
Cchcr1	C	A	17: 35,839,248 (GRCm39)	A479D	probably damaging	Het
Chpt1	C	T	10: 88,312,230 (GRCm39)	V349I	probably benign	Het
Cldn13	A	T	5: 134,943,975 (GRCm39)	I70K	probably damaging	Het
Col6a6	T	A	9: 105,659,622 (GRCm39)	D441V	probably damaging	Het
Cpne5	G	T	17: 29,423,714 (GRCm39)	T138K	probably benign	Het
Creb3l3	A	T	10: 80,925,301 (GRCm39)		probably null	Het
Cst5	C	T	2: 149,247,496 (GRCm39)	L71F	probably benign	Het
Ctsb	T	C	14: 63,375,550 (GRCm39)	V172A	probably benign	Het
Cyth4	T	C	15: 78,490,094 (GRCm39)	F72S	probably damaging	Het
D430041D05Rik	G	T	2: 104,240,484 (GRCm39)	Q9K	unknown	Het
Dnah1	T	A	14: 30,983,547 (GRCm39)	I4099F	probably damaging	Het
Dnah1	T	A	14: 31,022,748 (GRCm39)	I1130F	possibly damaging	Het
Dnah12	A	G	14: 26,578,592 (GRCm39)	K3117R	probably benign	Het
Dpf3	A	T	12: 83,319,159 (GRCm39)	S275R	probably benign	Het
Dst	A	G	1: 34,257,578 (GRCm39)	N2450S	probably benign	Het
Dync1h1	C	T	12: 110,632,109 (GRCm39)	R4460W	probably damaging	Het
Ecm1	A	C	3: 95,642,632 (GRCm39)	C414G	possibly damaging	Het
Eef2	G	A	10: 81,015,384 (GRCm39)	D302N	probably benign	Het
Egf	T	C	3: 129,479,912 (GRCm39)	D1038G	possibly damaging	Het
Epm2aip1	T	C	9: 111,101,467 (GRCm39)	S147P	probably damaging	Het
Esam	C	A	9: 37,448,863 (GRCm39)	P324T	possibly damaging	Het
Fbxo36	A	G	1: 84,874,301 (GRCm39)	D99G	probably damaging	Het
Fhad1	G	A	4: 141,691,937 (GRCm39)	R400C	probably benign	Het
Fhip2a	A	G	19: 57,357,017 (GRCm39)	Y36C	probably damaging	Het
Fndc3b	T	C	3: 27,515,893 (GRCm39)	T638A	probably benign	Het
Gba2	T	C	4: 43,568,967 (GRCm39)	T563A	probably benign	Het
Gm8180	T	A	14: 44,021,094 (GRCm39)	N38I	possibly damaging	Het
Hs3st4	A	G	7: 123,996,249 (GRCm39)	E305G	probably damaging	Het
Ireb2	T	A	9: 54,791,338 (GRCm39)	F191I	probably benign	Het
Irx3	T	G	8: 92,526,625 (GRCm39)	T360P	probably benign	Het
Itpr1	T	A	6: 108,380,357 (GRCm39)	I1375N	probably benign	Het
Klrh1	A	T	6: 129,752,345 (GRCm39)	F57I	probably benign	Het
Lama4	A	T	10: 38,963,369 (GRCm39)	I1314F	possibly damaging	Het
Lamb2	C	A	9: 108,363,347 (GRCm39)	A842D	probably benign	Het
Ldlrap1	A	G	4: 134,486,307 (GRCm39)	Y51H	possibly damaging	Het
Leo1	A	G	9: 75,355,623 (GRCm39)	D321G	probably damaging	Het
Lrrc14b	A	G	13: 74,511,226 (GRCm39)	S285P	probably damaging	Het
Macf1	A	G	4: 123,326,860 (GRCm39)	V4881A	probably benign	Het
Mfsd2b	A	T	12: 4,916,481 (GRCm39)	F333I	probably damaging	Het
Micall1	T	C	15: 79,006,760 (GRCm39)	S196P	unknown	Het
Mrps21	T	C	3: 95,770,110 (GRCm39)	N73S	probably benign	Het
Msantd5f5	G	A	4: 73,542,736 (GRCm39)	G79S	probably damaging	Het
Msln	C	T	17: 25,969,708 (GRCm39)	V341M	possibly damaging	Het
Mybpc3	A	T	2: 90,962,001 (GRCm39)	M840L	probably damaging	Het
Myo7a	A	C	7: 97,714,000 (GRCm39)	F1613V	probably damaging	Het
Naprt	C	T	15: 75,763,607 (GRCm39)		probably null	Het
Nbr1	T	C	11: 101,462,765 (GRCm39)	V572A	probably damaging	Het
Nfkbie	A	T	17: 45,870,233 (GRCm39)	T193S	probably damaging	Het
Nlrp14	T	G	7: 106,789,251 (GRCm39)	N672K	probably benign	Het
Or11l3	A	T	11: 58,516,260 (GRCm39)	I204N	probably damaging	Het
Or4b1d	A	G	2: 89,968,668 (GRCm39)	Y272H	probably damaging	Het
Or52ab2	A	G	7: 102,969,656 (GRCm39)	T13A		Het
Or5b101	T	C	19: 13,005,439 (GRCm39)	T85A	probably benign	Het
Or6k14	A	T	1: 173,927,299 (GRCm39)	I92F	probably damaging	Het
Or8b49	A	T	9: 38,506,200 (GRCm39)	I228L	probably benign	Het
Oscar	T	C	7: 3,614,149 (GRCm39)	T197A	possibly damaging	Het
P3h3	C	A	6: 124,827,594 (GRCm39)	A481S	possibly damaging	Het
Pcdh8	T	C	14: 80,008,691 (GRCm39)		probably null	Het
Pcsk9	A	T	4: 106,316,094 (GRCm39)	H116Q	probably benign	Het
Ptcd1	A	G	5: 145,091,540 (GRCm39)	F520L	possibly damaging	Het
Rapgef2	T	C	3: 78,976,580 (GRCm39)	T1261A	probably benign	Het
Ribc2	T	A	15: 85,019,446 (GRCm39)	M76K	probably benign	Het
Sin3b	A	G	8: 73,479,853 (GRCm39)	E853G	probably damaging	Het
Slit2	A	G	5: 48,414,180 (GRCm39)	D940G	probably damaging	Het
Smarcb1	T	A	10: 75,733,373 (GRCm39)	N342Y	probably damaging	Het
Smurf2	A	T	11: 106,726,921 (GRCm39)	I469N	probably damaging	Het
Spata31h1	T	C	10: 82,119,421 (GRCm39)	I4530V	probably benign	Het
Spta1	T	C	1: 174,074,065 (GRCm39)	Y2335H	probably damaging	Het
Suz12	C	T	11: 79,915,801 (GRCm39)	R425C	probably benign	Het
Synpo	G	A	18: 60,762,895 (GRCm39)	A4V	probably benign	Het
Tet1	A	C	10: 62,649,129 (GRCm39)	S157A	possibly damaging	Het
Themis	A	G	10: 28,637,415 (GRCm39)	E173G	possibly damaging	Het
Timmdc1	A	T	16: 38,325,780 (GRCm39)	L197*	probably null	Het
Tmem63c	T	C	12: 87,115,932 (GRCm39)	F191S	possibly damaging	Het
Tnn	G	A	1: 159,937,917 (GRCm39)	T1200I	probably benign	Het
Traf6	A	G	2: 101,527,537 (GRCm39)	H429R	probably benign	Het
Trem3	T	C	17: 48,556,873 (GRCm39)	S115P	probably benign	Het
Trip11	A	T	12: 101,851,639 (GRCm39)	N808K	probably benign	Het
Trub2	A	T	2: 29,673,385 (GRCm39)	V106E	probably damaging	Het
Ugcg	A	G	4: 59,217,156 (GRCm39)	I227V	probably benign	Het
Vat1l	G	A	8: 114,963,539 (GRCm39)		probably null	Het
Vmn1r184	T	C	7: 25,966,824 (GRCm39)	M190T	possibly damaging	Het
Vmn2r3	T	C	3: 64,182,953 (GRCm39)	T249A	probably benign	Het
Zfp729b	A	C	13: 67,742,002 (GRCm39)	S88A	probably benign	Het
Zfp995	T	C	17: 22,099,181 (GRCm39)	Y351C	probably damaging	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
R7008:Cyp19a1	UTSW	9	54,100,609 (GRCm39)	missense	probably benign	0.35
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'- TTTCCACAAGGTGCCTGTC -3'
(R):5'- AACTAGGGGCTATCTGTGGC -3'

Sequencing Primer
(F):5'- CCTCATTTGGGTGCAAGGACAG -3'
(R):5'- TCTGTGTCATAGGAGAGGCAC -3'

Posted On

2019-10-17