Incidental Mutation 'R4158:Cyp19a1'
ID 315628
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 041001-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4158 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 54073221-54175394 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 54093980 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 94 (T94I)
Ref Sequence ENSEMBL: ENSMUSP00000034811 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034811] [ENSMUST00000215736]
AlphaFold P28649
Predicted Effect probably damaging
Transcript: ENSMUST00000034811
AA Change: T94I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034811
Gene: ENSMUSG00000032274
AA Change: T94I

DomainStartEndE-ValueType
low complexity region 28 38 N/A INTRINSIC
Pfam:p450 46 488 1e-106 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000215736
AA Change: T27I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217040
Meta Mutation Damage Score 0.6312 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 97% (38/39)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34 T C 8: 44,103,854 (GRCm39) H597R probably damaging Het
Adgrf4 G T 17: 42,978,568 (GRCm39) H258Q probably benign Het
Ankrd1 T A 19: 36,095,273 (GRCm39) K138N probably damaging Het
Arg1 T C 10: 24,798,575 (GRCm39) E25G probably damaging Het
Arhgef19 T C 4: 140,973,660 (GRCm39) I49T possibly damaging Het
Bsn A G 9: 107,990,145 (GRCm39) V1869A possibly damaging Het
Cep350 G A 1: 155,808,621 (GRCm39) R652W probably damaging Het
Dnajc13 G A 9: 104,067,641 (GRCm39) L1173F probably damaging Het
Dse A G 10: 34,029,330 (GRCm39) F587L probably damaging Het
Efcab14 A C 4: 115,597,594 (GRCm39) D63A probably damaging Het
Eomes A G 9: 118,308,031 (GRCm39) T35A probably benign Het
Fbxl20 T C 11: 97,986,220 (GRCm39) probably benign Het
Flcn T C 11: 59,691,947 (GRCm39) N234S probably benign Het
Gm20939 A T 17: 95,184,162 (GRCm39) Y270F possibly damaging Het
Ikzf4 A T 10: 128,479,605 (GRCm39) probably benign Het
Il22b T C 10: 118,129,037 (GRCm39) T151A probably damaging Het
Kcne4 A G 1: 78,795,819 (GRCm39) N156D probably benign Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Lrrc45 A T 11: 120,609,272 (GRCm39) D377V possibly damaging Het
Magi3 T C 3: 103,958,277 (GRCm39) K603E probably damaging Het
Mocos T C 18: 24,807,303 (GRCm39) I345T probably damaging Het
Nox4 A T 7: 87,046,032 (GRCm39) H557L possibly damaging Het
Oasl1 A G 5: 115,075,073 (GRCm39) K378E possibly damaging Het
Pla2r1 A T 2: 60,252,966 (GRCm39) I1375K probably damaging Het
Ppp6r3 T A 19: 3,562,037 (GRCm39) H208L probably damaging Het
Ptprz1 A T 6: 23,001,683 (GRCm39) K1258* probably null Het
Ptprz1 T C 6: 23,022,204 (GRCm39) I844T possibly damaging Het
Sdk1 A G 5: 142,100,154 (GRCm39) I1395V probably benign Het
Sec31b T C 19: 44,513,625 (GRCm39) N470S probably benign Het
Slc26a7 T C 4: 14,544,197 (GRCm39) T369A probably benign Het
Tex14 T G 11: 87,407,595 (GRCm39) S900R probably benign Het
Ush2a G A 1: 188,460,907 (GRCm39) V2723M probably damaging Het
Vat1l T A 8: 115,098,469 (GRCm39) M413K probably benign Het
Zfp981 C A 4: 146,622,080 (GRCm39) P335Q probably benign Het
Zfp981 T A 4: 146,622,339 (GRCm39) H421Q probably benign Het
Other mutations in Cyp19a1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- TTCATTTCGTGGAGGGGAAAAC -3'
(R):5'- AAGAAGTTCACTGTGTTCTCACG -3'

Sequencing Primer
(F):5'- CTAGGGGAAACTTCAGCCTTG -3'
(R):5'- CTCACGGTCTGTTGTAGGTCC -3'
Posted On 2015-05-14