Incidental Mutation 'IGL02885:Cyp19a1'
ID362993
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cyp19a1
Ensembl Gene ENSMUSG00000032274
Gene Namecytochrome P450, family 19, subfamily a, polypeptide 1
SynonymsCyp19, ArKO, Int-5, aromatase, p450arom, Int5, Ar
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02885
Quality Score
Status
Chromosome9
Chromosomal Location54165937-54268110 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 54171818 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 269 (I269V)
Ref Sequence ENSEMBL: ENSMUSP00000150729 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034811] [ENSMUST00000215736]
Predicted Effect probably benign
Transcript: ENSMUST00000034811
AA Change: I336V

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000034811
Gene: ENSMUSG00000032274
AA Change: I336V

DomainStartEndE-ValueType
low complexity region 28 38 N/A INTRINSIC
Pfam:p450 46 488 1e-106 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000215736
AA Change: I269V

PolyPhen 2 Score 0.247 (Sensitivity: 0.91; Specificity: 0.88)
Coding Region Coverage
Validation Efficiency
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik A G 15: 82,063,951 N683S probably benign Het
4930444G20Rik T A 10: 22,067,158 I308F possibly damaging Het
Ahi1 T A 10: 21,055,113 F46I possibly damaging Het
Als2 C T 1: 59,167,491 V1598I probably benign Het
Arid1b A T 17: 5,342,153 D1986V probably damaging Het
Bhlhe41 T A 6: 145,865,263 D2V probably damaging Het
Borcs6 A G 11: 69,060,246 D150G possibly damaging Het
Ccdc88a G T 11: 29,448,050 R261L probably damaging Het
Ccne2 T A 4: 11,198,723 probably benign Het
Cenpk A G 13: 104,249,395 D266G probably damaging Het
Ces2b T C 8: 104,834,931 V219A probably damaging Het
Cpa1 A G 6: 30,645,170 R382G probably damaging Het
Cplx4 G T 18: 65,956,913 T145N probably damaging Het
Dennd3 A G 15: 73,568,696 Y1192C probably benign Het
Dpp6 T C 5: 27,718,473 Y694H probably damaging Het
Eea1 C A 10: 96,041,484 N1353K probably benign Het
Fam111a T A 19: 12,584,124 probably null Het
Fat1 T C 8: 44,989,167 S1169P probably benign Het
Frk G T 10: 34,484,071 A23S probably benign Het
Fyb2 T C 4: 105,003,921 V594A probably damaging Het
Gtpbp3 C A 8: 71,489,420 probably benign Het
Hoxa5 G T 6: 52,202,708 A229D probably damaging Het
Hspb11 G A 4: 107,273,669 C52Y possibly damaging Het
Igf2r A T 17: 12,694,120 F1780L possibly damaging Het
Jade2 A T 11: 51,831,296 D143E probably damaging Het
Kdm1a T C 4: 136,552,535 I719V probably benign Het
Lama1 G A 17: 67,804,536 G2261R probably damaging Het
Lmx1b G T 2: 33,567,204 Q206K probably benign Het
Lrrtm4 G A 6: 80,021,803 G66D probably damaging Het
Myg1 G T 15: 102,332,159 G90C probably damaging Het
Nbea C T 3: 55,631,986 V2785I probably benign Het
Ncr1 C A 7: 4,338,226 P35Q probably damaging Het
Nos1 T A 5: 117,895,790 C326S probably damaging Het
Olfr410 G T 11: 74,334,693 H179Q possibly damaging Het
Olfr527 T C 7: 140,336,159 F99S possibly damaging Het
Olfr569 A T 7: 102,888,036 V39E possibly damaging Het
Pde4d A G 13: 109,948,261 Y520C probably damaging Het
Ppm1d A G 11: 85,326,944 M178V possibly damaging Het
Samd3 G A 10: 26,271,864 R479K probably benign Het
Serpinb6a A G 13: 33,918,799 V226A probably benign Het
Slc26a4 T C 12: 31,525,476 E737G probably benign Het
Slc34a3 A G 2: 25,231,057 C340R probably damaging Het
Spata31d1b C A 13: 59,719,127 probably benign Het
Trappc12 A G 12: 28,747,014 V173A probably benign Het
Vmn2r66 A T 7: 84,995,515 D562E probably benign Het
Zfp395 C T 14: 65,395,895 P451L probably benign Het
Other mutations in Cyp19a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01897:Cyp19a1 APN 9 54168529 missense probably benign 0.03
IGL02897:Cyp19a1 APN 9 54166911 missense possibly damaging 0.95
R0384:Cyp19a1 UTSW 9 54172741 missense probably benign 0.01
R3104:Cyp19a1 UTSW 9 54186799 missense probably benign 0.00
R4116:Cyp19a1 UTSW 9 54168741 missense possibly damaging 0.94
R4158:Cyp19a1 UTSW 9 54186696 missense probably damaging 1.00
R4160:Cyp19a1 UTSW 9 54186696 missense probably damaging 1.00
R4555:Cyp19a1 UTSW 9 54166821 missense probably damaging 0.96
R4569:Cyp19a1 UTSW 9 54193323 missense probably benign 0.06
R4570:Cyp19a1 UTSW 9 54193323 missense probably benign 0.06
R4693:Cyp19a1 UTSW 9 54173333 missense possibly damaging 0.55
R4807:Cyp19a1 UTSW 9 54176646 missense possibly damaging 0.89
R4853:Cyp19a1 UTSW 9 54166776 missense probably benign
R4938:Cyp19a1 UTSW 9 54173363 missense probably benign 0.01
R5272:Cyp19a1 UTSW 9 54176614 missense probably benign 0.19
R6148:Cyp19a1 UTSW 9 54180256 missense probably damaging 1.00
R7008:Cyp19a1 UTSW 9 54193325 missense probably benign 0.35
R7472:Cyp19a1 UTSW 9 54166993 missense possibly damaging 0.55
R7807:Cyp19a1 UTSW 9 54166842 missense probably benign 0.06
R7841:Cyp19a1 UTSW 9 54171805 missense probably benign 0.03
R7924:Cyp19a1 UTSW 9 54171805 missense probably benign 0.03
X0025:Cyp19a1 UTSW 9 54168568 missense probably damaging 1.00
Z1176:Cyp19a1 UTSW 9 54176599 nonsense probably null
Posted On2015-12-18