Mutagenetix > Incidental Mutation

Incidental Mutation 'R4570:Cyp19a1'

342084

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

041794-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4570 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

54073221-54175394 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 54100607 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 27 (P27S)

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: P27S

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000034811
Gene: ENSMUSG00000032274
AA Change: P27S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214358

Predicted Effect

probably benign
Transcript: ENSMUST00000215736

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216974

Meta Mutation Damage Score

0.0855

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

99% (78/79)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	A	G	10: 79,842,528 (GRCm39)	D1154G	probably damaging	Het
Acsl5	T	A	19: 55,280,206 (GRCm39)	I493N	probably damaging	Het
Adgrf5	T	A	17: 43,756,006 (GRCm39)	S450T	probably benign	Het
Ak2	T	C	4: 128,895,960 (GRCm39)	V79A	probably damaging	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Arfgef2	C	A	2: 166,698,458 (GRCm39)	Q643K	probably damaging	Het
Asap3	A	G	4: 135,967,496 (GRCm39)	D605G	probably damaging	Het
Ccr5	C	T	9: 123,924,912 (GRCm39)	Q172*	probably null	Het
Cpxm2	T	C	7: 131,745,435 (GRCm39)	D130G	probably benign	Het
Cspg4b	T	A	13: 113,454,725 (GRCm39)	V257D	probably damaging	Het
Cxcl12	T	C	6: 117,145,633 (GRCm39)	V6A	probably benign	Het
Dmxl1	T	C	18: 49,985,427 (GRCm39)	Y225H	probably damaging	Het
Dzip1l	A	T	9: 99,529,221 (GRCm39)	K317*	probably null	Het
Edil3	A	G	13: 89,280,016 (GRCm39)		probably benign	Het
Enpep	A	T	3: 129,075,197 (GRCm39)	I707K	possibly damaging	Het
Fcrlb	A	G	1: 170,740,189 (GRCm39)		probably null	Het
Flt1	C	T	5: 147,531,423 (GRCm39)	A847T	probably damaging	Het
Fsd2	T	C	7: 81,209,518 (GRCm39)	D108G	probably benign	Het
Gemin6	C	T	17: 80,535,498 (GRCm39)	R153*	probably null	Het
Gldc	T	A	19: 30,151,839 (GRCm39)	M112L	probably benign	Het
Gm10267	C	T	18: 44,289,492 (GRCm39)	M79I	probably benign	Het
Gm10803	A	G	2: 93,394,597 (GRCm39)	Y123C	unknown	Het
Gm28040	C	A	1: 133,257,119 (GRCm39)		probably benign	Het
Gm8674	T	A	13: 50,056,570 (GRCm39)		noncoding transcript	Het
Gprasp1	C	T	X: 134,703,592 (GRCm39)	R1262C	probably damaging	Het
Hba-a2	T	C	11: 32,247,200 (GRCm39)	Y141H	probably damaging	Het
Hmbox1	T	A	14: 65,061,111 (GRCm39)	I388F	possibly damaging	Het
Hs6st1	G	T	1: 36,142,628 (GRCm39)	V188L	possibly damaging	Het
Ipmk	T	G	10: 71,208,569 (GRCm39)	H118Q	probably benign	Het
Jhy	A	G	9: 40,822,389 (GRCm39)	I583T	probably benign	Het
Kcna2	A	G	3: 107,012,111 (GRCm39)	I231V	probably benign	Het
Kcnh7	T	C	2: 62,667,439 (GRCm39)	T367A	possibly damaging	Het
Kcp	A	T	6: 29,491,847 (GRCm39)	C197*	probably null	Het
Klra2	C	A	6: 131,220,900 (GRCm39)	C54F	probably damaging	Het
Lcn9	T	C	2: 25,713,591 (GRCm39)	L39P	probably benign	Het
Lct	T	C	1: 128,227,641 (GRCm39)	N1284S	probably benign	Het
Map6	T	G	7: 98,985,763 (GRCm39)	S556A	possibly damaging	Het
Mdn1	C	A	4: 32,741,812 (GRCm39)	T3861K	probably damaging	Het
Mrps12	A	G	7: 28,439,388 (GRCm39)	L109P	probably damaging	Het
Mucl3	T	C	17: 35,948,883 (GRCm39)	T239A	possibly damaging	Het
Mybphl	G	A	3: 108,272,347 (GRCm39)	C12Y	possibly damaging	Het
Nek9	T	C	12: 85,367,508 (GRCm39)	K388E	probably damaging	Het
Nvl	A	G	1: 180,971,647 (GRCm39)	V9A	probably benign	Het
Obscn	T	C	11: 58,897,654 (GRCm39)		probably null	Het
Or2h2	T	C	17: 37,396,471 (GRCm39)	I195M	probably damaging	Het
Pik3c3	T	A	18: 30,423,603 (GRCm39)	I233N	possibly damaging	Het
Pkhd1	T	A	1: 20,451,747 (GRCm39)	I2183F	probably damaging	Het
Ppara	A	G	15: 85,671,398 (GRCm39)	I100V	probably benign	Het
Rem2	T	C	14: 54,715,116 (GRCm39)	S98P	probably damaging	Het
Rpl5-ps2	G	T	2: 154,546,156 (GRCm39)		noncoding transcript	Het
Scmh1	T	A	4: 120,385,495 (GRCm39)	H623Q	probably damaging	Het
Scn9a	A	G	2: 66,313,902 (GRCm39)	S1939P	possibly damaging	Het
Slc6a13	T	C	6: 121,313,101 (GRCm39)		probably null	Het
Slc7a4	G	A	16: 17,392,141 (GRCm39)	T431I	probably benign	Het
Snupn	A	G	9: 56,885,346 (GRCm39)	E217G	probably benign	Het
Spopl	T	A	2: 23,427,497 (GRCm39)	K212*	probably null	Het
Strn	T	A	17: 78,984,801 (GRCm39)	T281S	possibly damaging	Het
Supt3	T	A	17: 45,352,116 (GRCm39)	L265*	probably null	Het
Taf5l	G	A	8: 124,724,289 (GRCm39)	T510M	probably damaging	Het
Tapbp	C	A	17: 34,145,427 (GRCm39)	D415E	probably damaging	Het
Tarbp1	A	T	8: 127,178,972 (GRCm39)	D702E	probably benign	Het
Tfap2c	C	A	2: 172,399,247 (GRCm39)	P473Q	probably damaging	Het
Tnc	T	C	4: 63,913,909 (GRCm39)	N1301S	probably damaging	Het
Trim33	A	G	3: 103,237,481 (GRCm39)	Q179R	probably damaging	Het
Txnrd2	A	G	16: 18,287,554 (GRCm39)	N335S	probably benign	Het
Uggt1	T	A	1: 36,189,154 (GRCm39)	D1444V	probably damaging	Het
Ugt3a1	T	C	15: 9,338,807 (GRCm39)	L57P	probably benign	Het
Vmn2r6	A	T	3: 64,467,068 (GRCm39)	W144R	probably benign	Het
Vmn2r98	T	A	17: 19,286,354 (GRCm39)	M284K	probably benign	Het
Zfp558	A	T	9: 18,367,799 (GRCm39)	C330S	possibly damaging	Het
Zfp703	T	C	8: 27,468,981 (GRCm39)	V215A	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
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
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'- GAGCTGTGCTTCTTCTTCGAAG -3'
(R):5'- ATCCAGCACCCTTCCAAGTG -3'

Sequencing Primer
(F):5'- GCCCCGTGAAACTCTTTC -3'
(R):5'- GAAATGCTGAACCCCATG -3'

Posted On

2015-09-24