Incidental Mutation 'IGL02897:Cyp19a1'
ID363440
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 #IGL02897
Quality Score
Status
Chromosome9
Chromosomal Location54165937-54268110 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 54166911 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Lysine at position 453 (T453K)
Ref Sequence ENSEMBL: ENSMUSP00000034811 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034811] [ENSMUST00000215736]
Predicted Effect possibly damaging
Transcript: ENSMUST00000034811
AA Change: T453K

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000034811
Gene: ENSMUSG00000032274
AA Change: T453K

DomainStartEndE-ValueType
low complexity region 28 38 N/A INTRINSIC
Pfam:p450 46 488 1e-106 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000215736
AA Change: T386K

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700093K21Rik T A 11: 23,517,308 E108D probably benign Het
Abca7 T C 10: 80,001,592 F437L probably damaging Het
Abi2 T C 1: 60,448,194 V134A probably damaging Het
Ablim2 T C 5: 35,833,126 I75T probably damaging Het
Aldh1a3 A G 7: 66,427,327 V29A probably benign Het
Bptf T C 11: 107,047,121 K2715E probably damaging Het
Cd163 A T 6: 124,325,527 S1017C probably damaging Het
Cdc14b T C 13: 64,247,253 I76V probably benign Het
Cers6 T A 2: 68,934,533 C63* probably null Het
Chd9 T C 8: 90,933,868 probably benign Het
Col19a1 T C 1: 24,534,098 N198D unknown Het
Cse1l T C 2: 166,919,708 C61R possibly damaging Het
Cubn T C 2: 13,318,312 T2815A possibly damaging Het
Dlg1 G T 16: 31,771,856 probably null Het
Dpp7 T C 2: 25,353,672 Y339C probably damaging Het
Dtl T C 1: 191,541,544 probably benign Het
Gm5591 T C 7: 38,520,042 E469G probably damaging Het
Ing3 T A 6: 21,969,326 V202E probably benign Het
Inpp5j A G 11: 3,500,619 L578P probably damaging Het
Irak4 A G 15: 94,553,991 N155S probably benign Het
Kif2b A T 11: 91,576,219 S413T probably damaging Het
L3mbtl1 A T 2: 162,965,772 Y490F probably damaging Het
Med17 T G 9: 15,267,534 D447A probably damaging Het
Med26 T C 8: 72,496,521 T245A probably benign Het
Nlrc3 A T 16: 3,964,074 S490R possibly damaging Het
Nme5 A G 18: 34,569,903 probably benign Het
Olfr611 T C 7: 103,518,130 R85G probably benign Het
Rnf10 G T 5: 115,248,641 Q530K probably benign Het
Robo3 A T 9: 37,427,502 Y281* probably null Het
Sclt1 T C 3: 41,675,387 I330V probably benign Het
Smim14 A T 5: 65,450,396 probably benign Het
Trank1 T G 9: 111,367,517 H1536Q probably damaging Het
Tspan18 A G 2: 93,220,173 L35P possibly damaging Het
Ubr4 G A 4: 139,472,508 V4568M probably damaging Het
Vmn1r63 A G 7: 5,802,745 V296A possibly damaging Het
Other mutations in Cyp19a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01897:Cyp19a1 APN 9 54168529 missense probably benign 0.03
IGL02885:Cyp19a1 APN 9 54171818 missense probably benign 0.25
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
X0025:Cyp19a1 UTSW 9 54168568 missense probably damaging 1.00
Z1176:Cyp19a1 UTSW 9 54176599 nonsense probably null
Posted On2015-12-18