Mutagenetix > Incidental Mutation

Incidental Mutation 'R6148:Cyp19a1'

489030

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

044295-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6148 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

54073221-54175394 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 54087540 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 59 (G59D)

Ref Sequence

ENSEMBL: ENSMUSP00000150729 (fasta)

Gene Model

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

AlphaFold

P28649

Predicted Effect

probably damaging
Transcript: ENSMUST00000034811
AA Change: G126D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000034811
Gene: ENSMUSG00000032274
AA Change: G126D

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000215736
AA Change: G59D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217040

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.6%

Validation Efficiency

95% (61/64)

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
2700049A03Rik	T	A	12: 71,234,200 (GRCm39)	C1067S	possibly damaging	Het
AAdacl4fm3	T	C	4: 144,447,887 (GRCm39)	T30A	possibly damaging	Het
Agbl3	T	A	6: 34,834,688 (GRCm39)	S952R	possibly damaging	Het
Ano9	A	G	7: 140,686,698 (GRCm39)	Y429H	probably damaging	Het
Bbs7	C	A	3: 36,667,415 (GRCm39)	R7L	probably damaging	Het
Birc2	T	A	9: 7,849,684 (GRCm39)	D535V	possibly damaging	Het
Catsper4	A	G	4: 133,945,240 (GRCm39)	V206A	probably damaging	Het
Ccdc73	T	G	2: 104,822,482 (GRCm39)	S810R	possibly damaging	Het
Cd177	A	T	7: 24,443,698 (GRCm39)	L800*	probably null	Het
Cd34	T	C	1: 194,630,316 (GRCm39)		probably null	Het
Cep78	G	A	19: 15,959,150 (GRCm39)	R95*	probably null	Het
Cfap69	T	C	5: 5,713,996 (GRCm39)	D12G	probably benign	Het
Cpne7	A	G	8: 123,854,171 (GRCm39)	D286G	probably benign	Het
Cwc22	ATCTCTCTCTCTCTCTCT	ATCTCTCTCTCTCTCT	2: 77,759,803 (GRCm39)		probably null	Het
Cxcl5	A	T	5: 90,907,565 (GRCm39)	I46L	probably benign	Het
Dclre1c	A	G	2: 3,438,742 (GRCm39)	D35G	probably damaging	Het
Defa41	A	G	8: 21,692,428 (GRCm39)	N83S	probably benign	Het
Dvl1	A	G	4: 155,939,409 (GRCm39)	Y279C	probably damaging	Het
Fes	A	G	7: 80,030,044 (GRCm39)	L578P	probably damaging	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Fmn2	T	C	1: 174,494,229 (GRCm39)	S1248P	probably damaging	Het
Fmo1	T	G	1: 162,679,088 (GRCm39)	S53R	probably damaging	Het
Gabrg1	A	T	5: 70,931,804 (GRCm39)	M313K	probably damaging	Het
Galnt10	T	C	11: 57,675,474 (GRCm39)	C578R	probably damaging	Het
Gpr39	T	C	1: 125,800,323 (GRCm39)	V358A	probably damaging	Het
Gsap	A	G	5: 21,431,323 (GRCm39)	R216G	probably damaging	Het
Gsap	A	T	5: 21,475,575 (GRCm39)	T570S	probably benign	Het
Gucy2d	A	T	7: 98,093,030 (GRCm39)	I136L	probably benign	Het
Hap1	A	T	11: 100,240,218 (GRCm39)	V294E	probably damaging	Het
Ipo8	A	G	6: 148,701,278 (GRCm39)	V514A	probably damaging	Het
Irf5	T	C	6: 29,535,958 (GRCm39)	L324P	probably damaging	Het
Itsn1	C	T	16: 91,613,740 (GRCm39)	R251C	probably damaging	Het
Klf11	T	C	12: 24,701,567 (GRCm39)		probably null	Het
Kpna6	G	A	4: 129,543,099 (GRCm39)	Q439*	probably null	Het
Mark4	A	T	7: 19,163,441 (GRCm39)	S563T	probably benign	Het
Mrpl21	A	T	19: 3,333,084 (GRCm39)	I5L	probably benign	Het
Muc4	T	C	16: 32,753,802 (GRCm38)	I1226T	probably benign	Het
Myrf	G	A	19: 10,189,839 (GRCm39)	T815I	probably damaging	Het
Olfr515-ps1	A	T	7: 108,444,178 (GRCm39)		probably null	Het
Or10d4c	G	T	9: 39,558,555 (GRCm39)	D178Y	probably damaging	Het
Or11g27	A	G	14: 50,771,778 (GRCm39)	N303S	probably benign	Het
Or4c15	C	T	2: 88,760,597 (GRCm39)	V21I	probably benign	Het
Or52n3	A	G	7: 104,530,289 (GRCm39)	Y125C	possibly damaging	Het
Os9	T	C	10: 126,935,812 (GRCm39)	D280G	probably benign	Het
Pcdhb14	A	G	18: 37,582,283 (GRCm39)	N463S	probably damaging	Het
Pex19	G	A	1: 171,961,606 (GRCm39)	E271K	probably damaging	Het
Ppdpf	G	A	2: 180,829,641 (GRCm39)	S32N	probably benign	Het
Prdm2	A	G	4: 142,859,477 (GRCm39)	I1271T	probably benign	Het
Rbbp4	T	C	4: 129,215,751 (GRCm39)	T262A	probably benign	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Spaca9	G	A	2: 28,583,793 (GRCm39)	R64W	probably damaging	Het
Sult1e1	A	T	5: 87,727,770 (GRCm39)	S171T	probably damaging	Het
Tns1	T	C	1: 73,992,612 (GRCm39)	T689A	probably damaging	Het
Unc13c	G	C	9: 73,600,648 (GRCm39)	N1365K	probably benign	Het
Vmn2r52	T	C	7: 9,905,090 (GRCm39)	I250V	probably benign	Het
Vmn2r55	C	A	7: 12,402,069 (GRCm39)	L406F	probably benign	Het
Wdcp	T	C	12: 4,900,621 (GRCm39)	V159A	possibly damaging	Het
Zbtb3	C	T	19: 8,781,560 (GRCm39)	A391V	probably benign	Het
Znhit1	A	T	5: 137,011,487 (GRCm39)	S109T	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
R7008:Cyp19a1	UTSW	9	54,100,609 (GRCm39)	missense	probably benign	0.35
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'- TGTGGCAGCCCAATTTAAAGC -3'
(R):5'- AACACGCGTCTGTTGGGAAAG -3'

Sequencing Primer
(F):5'- GCAGCCCAATTTAAAGCATGCTC -3'
(R):5'- TCTGTTGGGAAAGCCACCAC -3'

Posted On

2017-10-10