Mutagenetix > Incidental Mutation

Incidental Mutation 'R4693:Cyp19a1'

355042

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

041944-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4693 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

54073221-54175394 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 54080617 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 247 (S247T)

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: S247T

PolyPhen 2 Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000034811
Gene: ENSMUSG00000032274
AA Change: S247T

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: S180T

PolyPhen 2 Score 0.313 (Sensitivity: 0.90; Specificity: 0.89)

Meta Mutation Damage Score

0.0940

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.7%

Validation Efficiency

100% (79/79)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg8	T	C	17: 85,004,125 (GRCm39)	Y478H	probably damaging	Het
Adar	A	T	3: 89,643,247 (GRCm39)	H128L	probably damaging	Het
Angptl6	G	T	9: 20,786,598 (GRCm39)	D349E	probably damaging	Het
Anxa9	T	C	3: 95,204,667 (GRCm39)	T286A	probably benign	Het
Apobr	A	G	7: 126,186,019 (GRCm39)	N510S	probably damaging	Het
Atoh7	G	T	10: 62,936,275 (GRCm39)	R114L	probably benign	Het
Bank1	C	G	3: 135,953,437 (GRCm39)	R106P	probably damaging	Het
Best1	C	T	19: 9,974,499 (GRCm39)	G15D	probably damaging	Het
Best2	A	T	8: 85,737,832 (GRCm39)	F188I	probably damaging	Het
Ccdc88a	T	C	11: 29,432,241 (GRCm39)	Y344H	probably damaging	Het
Col6a5	A	G	9: 105,814,371 (GRCm39)	L547P	unknown	Het
Cyp26a1	T	C	19: 37,686,925 (GRCm39)	S126P	probably benign	Het
Dab1	G	T	4: 104,536,750 (GRCm39)	C180F	probably damaging	Het
Dclk2	T	C	3: 86,722,400 (GRCm39)	D412G	possibly damaging	Het
Dspp	A	T	5: 104,325,928 (GRCm39)	S764C	unknown	Het
Dync1li1	C	A	9: 114,535,166 (GRCm39)	D143E	probably damaging	Het
Esm1	A	T	13: 113,346,594 (GRCm39)	D73V	probably damaging	Het
Etfdh	A	T	3: 79,513,110 (GRCm39)	V431E	probably damaging	Het
Fam83c	C	T	2: 155,672,154 (GRCm39)	R427H	probably damaging	Het
Galnt9	A	G	5: 110,763,375 (GRCm39)	Y93C	probably damaging	Het
Gm6818	G	A	7: 38,100,126 (GRCm39)		noncoding transcript	Het
Gosr2	A	G	11: 103,574,755 (GRCm39)	S114P	probably benign	Het
Grip1	G	A	10: 119,836,459 (GRCm39)	V444I	probably benign	Het
Gvin-ps3	T	G	7: 105,681,585 (GRCm39)		noncoding transcript	Het
Haus4	G	T	14: 54,787,256 (GRCm39)	A67E	probably benign	Het
Hectd2	T	A	19: 36,591,738 (GRCm39)		probably benign	Het
Kndc1	T	C	7: 139,501,695 (GRCm39)	Y911H	probably benign	Het
Lim2	T	C	7: 43,080,105 (GRCm39)	Y31H	probably damaging	Het
Lims2	G	A	18: 32,077,552 (GRCm39)	R101H	probably benign	Het
Lrrc2	T	A	9: 110,799,161 (GRCm39)	M236K	probably damaging	Het
Lrrc37	T	A	11: 103,510,686 (GRCm39)	E427D	unknown	Het
Lrrk1	T	C	7: 65,912,235 (GRCm39)	Y1775C	probably damaging	Het
Mdga2	A	G	12: 66,844,407 (GRCm39)	V197A	possibly damaging	Het
Mfhas1	T	A	8: 36,056,329 (GRCm39)	L268Q	probably damaging	Het
Mlh1	A	G	9: 111,084,726 (GRCm39)	I216T	probably damaging	Het
Mrc2	G	A	11: 105,234,528 (GRCm39)	C1016Y	probably benign	Het
Mvp	C	A	7: 126,597,500 (GRCm39)	V168F	probably damaging	Het
Mybphl	A	G	3: 108,282,494 (GRCm39)	T176A	probably benign	Het
Myt1	T	A	2: 181,437,532 (GRCm39)	L81Q	probably damaging	Het
Ncbp3	T	C	11: 72,966,503 (GRCm39)	L453S	probably benign	Het
Or4c1	T	A	2: 89,133,621 (GRCm39)	E105V	probably benign	Het
Or4c114	T	C	2: 88,905,412 (GRCm39)	T8A	possibly damaging	Het
Or55b10	T	A	7: 102,143,659 (GRCm39)	I108F	probably damaging	Het
Or5b125-ps1	C	A	19: 13,056,226 (GRCm39)		noncoding transcript	Het
Or5l14	A	T	2: 87,793,053 (GRCm39)	F61Y	probably benign	Het
Pak4	A	T	7: 28,263,674 (GRCm39)	M354K	probably damaging	Het
Pax3	T	C	1: 78,173,383 (GRCm39)	T2A	probably benign	Het
Pcdh17	A	G	14: 84,770,960 (GRCm39)	D1146G	probably damaging	Het
Pcyt1a	T	C	16: 32,289,042 (GRCm39)		probably benign	Het
Pfkp	C	T	13: 6,650,671 (GRCm39)	G467D	possibly damaging	Het
Plin4	C	A	17: 56,410,762 (GRCm39)	G1090C	probably damaging	Het
Pth1r	A	G	9: 110,560,692 (GRCm39)	V25A	probably damaging	Het
Ptk2b	C	T	14: 66,394,518 (GRCm39)	G859S	probably benign	Het
Ptprf	T	A	4: 118,068,219 (GRCm39)	E1772D	probably benign	Het
Sall2	T	C	14: 52,551,935 (GRCm39)	H420R	probably damaging	Het
Sbds	G	A	5: 130,279,816 (GRCm39)	R63W	probably damaging	Het
Sccpdh	A	G	1: 179,495,975 (GRCm39)	T19A	possibly damaging	Het
Scn8a	A	T	15: 100,913,572 (GRCm39)	D988V	probably damaging	Het
Slamf6	C	T	1: 171,761,680 (GRCm39)	Q34*	probably null	Het
Slc22a6	T	A	19: 8,601,016 (GRCm39)	I403N	probably damaging	Het
Sox5	T	C	6: 143,781,042 (GRCm39)	Y574C	probably damaging	Het
Sptbn5	T	A	2: 119,889,897 (GRCm39)		probably benign	Het
Srcap	T	A	7: 127,137,716 (GRCm39)	V1022E	probably damaging	Het
Tbx3	G	A	5: 119,815,635 (GRCm39)	E292K	possibly damaging	Het
Tbx5	A	T	5: 119,979,964 (GRCm39)	H170L	probably damaging	Het
Tcf12	A	T	9: 71,776,249 (GRCm39)		probably benign	Het
Themis	G	A	10: 28,658,647 (GRCm39)	R558H	probably damaging	Het
Tiam1	T	C	16: 89,640,170 (GRCm39)	E849G	possibly damaging	Het
Vav3	A	G	3: 109,470,534 (GRCm39)		probably benign	Het
Vmn2r90	T	A	17: 17,953,956 (GRCm39)	C707S	possibly damaging	Het
Vmn2r96	T	G	17: 18,803,270 (GRCm39)	N201K	probably benign	Het
Zfp148	C	T	16: 33,288,505 (GRCm39)	R207C	probably damaging	Het
Zfp648	G	T	1: 154,080,152 (GRCm39)	A104S	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
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
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'- AGAGGCTTCCTTTGTCCTCTGG -3'
(R):5'- GTATAGTCTGCGTCCACTGG -3'

Sequencing Primer
(F):5'- TGGTCTGTCCCAGTGCAG -3'
(R):5'- ACTGGCGACCCAAGACTG -3'

Posted On

2015-10-21