Incidental Mutation 'R4160:Cyp19a1'
| ID |
315704 |
| 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 |
041003-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4160 (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
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
89% (34/38) |
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf4 |
G |
T |
17: 42,978,568 (GRCm39) |
H258Q |
probably benign |
Het |
| Ankrd1 |
T |
A |
19: 36,095,273 (GRCm39) |
K138N |
probably damaging |
Het |
| Arhgef19 |
T |
C |
4: 140,973,660 (GRCm39) |
I49T |
possibly damaging |
Het |
| Bltp3a |
A |
G |
17: 28,103,061 (GRCm39) |
Y365C |
probably damaging |
Het |
| Cacnb3 |
G |
T |
15: 98,538,601 (GRCm39) |
G148C |
probably damaging |
Het |
| Cep350 |
G |
A |
1: 155,808,621 (GRCm39) |
R652W |
probably damaging |
Het |
| D130043K22Rik |
A |
C |
13: 25,046,679 (GRCm39) |
E360D |
probably benign |
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 |
| Ibtk |
T |
C |
9: 85,585,143 (GRCm39) |
E1167G |
probably benign |
Het |
| Ikzf4 |
A |
T |
10: 128,479,605 (GRCm39) |
|
probably benign |
Het |
| Magi3 |
T |
C |
3: 103,958,277 (GRCm39) |
K603E |
probably damaging |
Het |
| Myh13 |
T |
C |
11: 67,255,636 (GRCm39) |
|
probably benign |
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 |
| Pdia3 |
A |
T |
2: 121,244,596 (GRCm39) |
D26V |
probably damaging |
Het |
| Pds5a |
T |
C |
5: 65,821,839 (GRCm39) |
T120A |
possibly damaging |
Het |
| Phf8-ps |
G |
A |
17: 33,285,023 (GRCm39) |
T593I |
probably benign |
Het |
| Pkn2 |
G |
A |
3: 142,509,325 (GRCm39) |
P740S |
probably benign |
Het |
| Pla2r1 |
A |
T |
2: 60,252,966 (GRCm39) |
I1375K |
probably damaging |
Het |
| Pld2 |
T |
C |
11: 70,432,253 (GRCm39) |
L124P |
probably damaging |
Het |
| Ppp6r3 |
T |
A |
19: 3,562,037 (GRCm39) |
H208L |
probably damaging |
Het |
| Prr36 |
G |
T |
8: 4,262,910 (GRCm39) |
Q919K |
probably benign |
Het |
| Ptpn1 |
T |
C |
2: 167,809,731 (GRCm39) |
I113T |
probably benign |
Het |
| Ptprz1 |
T |
C |
6: 23,022,204 (GRCm39) |
I844T |
possibly damaging |
Het |
| Rbl1 |
A |
G |
2: 157,034,039 (GRCm39) |
|
probably benign |
Het |
| Sdk1 |
A |
G |
5: 142,100,154 (GRCm39) |
I1395V |
probably benign |
Het |
| Senp7 |
C |
A |
16: 55,973,832 (GRCm39) |
P351Q |
possibly damaging |
Het |
| Slc26a7 |
T |
C |
4: 14,544,197 (GRCm39) |
T369A |
probably benign |
Het |
| Tnxb |
A |
G |
17: 34,930,491 (GRCm39) |
T2059A |
probably damaging |
Het |
| Vat1l |
T |
A |
8: 115,098,469 (GRCm39) |
M413K |
probably benign |
Het |
| Vps11 |
C |
G |
9: 44,267,017 (GRCm39) |
G406A |
probably damaging |
Het |
| Wnk2 |
C |
T |
13: 49,244,313 (GRCm39) |
D508N |
probably damaging |
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 |
|
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'- AGAAGTTCACTGTGTTCTCACG -3'
Sequencing Primer
(F):5'- CTAGGGGAAACTTCAGCCTTG -3'
(R):5'- CTCACGGTCTGTTGTAGGTCC -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation