Incidental Mutation 'IGL00542:Cyp11b1'
| ID |
9974 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cyp11b1
|
| Ensembl Gene |
ENSMUSG00000075604 |
| Gene Name |
cytochrome P450, family 11, subfamily b, polypeptide 1 |
| Synonyms |
Cyp11b-1, Cyp11b |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.383)
|
| Stock # |
IGL00542
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
74706741-74713492 bp(-) (GRCm39) |
| Type of Mutation |
splice site (982 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 74707702 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141185
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170259]
[ENSMUST00000188180]
|
| AlphaFold |
Q3TG86 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000170259
AA Change: F469Y
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000127888
Gene: ENSMUSG00000075604
AA Change: F469Y
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
33 |
N/A |
INTRINSIC |
|
Pfam:p450
|
44 |
497 |
4.3e-109 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000188180
|
| SMART Domains |
Protein: ENSMUSP00000141185
Gene: ENSMUSG00000068600
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Blast:LU
|
47 |
80 |
2e-15 |
BLAST |
|
| 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 mitochondrial inner membrane. The enzyme has steroid 18-hydroxylase activity to synthesize aldosterone and 18-oxocortisol as well as steroid 11 beta-hydroxylase activity. Mutations in this gene cause corticosterone methyl oxidase deficiency. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit adrenal hypertrophy, abnormal organ weights, abnormal hormone levels, abnormal urine chemistry, hypokalemia, increased blood pressure, and female infertility. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 13 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Birc6 |
G |
A |
17: 74,930,766 (GRCm39) |
|
probably null |
Het |
| Elovl2 |
T |
C |
13: 41,338,790 (GRCm39) |
T287A |
probably benign |
Het |
| Ephb4 |
A |
G |
5: 137,363,877 (GRCm39) |
|
probably benign |
Het |
| Gpcpd1 |
T |
C |
2: 132,398,903 (GRCm39) |
|
probably null |
Het |
| Impg2 |
C |
T |
16: 56,081,968 (GRCm39) |
R858* |
probably null |
Het |
| Lrrk2 |
G |
A |
15: 91,584,146 (GRCm39) |
R302Q |
probably benign |
Het |
| Mgat4d |
T |
A |
8: 84,081,425 (GRCm39) |
H59Q |
probably benign |
Het |
| Plb1 |
T |
C |
5: 32,427,178 (GRCm39) |
M96T |
probably benign |
Het |
| Scn5a |
T |
A |
9: 119,321,192 (GRCm39) |
I1457F |
probably damaging |
Het |
| Smc4 |
T |
C |
3: 68,935,771 (GRCm39) |
|
probably benign |
Het |
| Ugt2a3 |
T |
C |
5: 87,484,682 (GRCm39) |
D114G |
possibly damaging |
Het |
| Zcchc7 |
C |
T |
4: 44,931,462 (GRCm39) |
P217L |
probably benign |
Het |
| Zfat |
T |
G |
15: 68,042,071 (GRCm39) |
D821A |
possibly damaging |
Het |
|
| Other mutations in Cyp11b1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01154:Cyp11b1
|
APN |
15 |
74,710,383 (GRCm39) |
missense |
probably benign |
|
|
IGL01982:Cyp11b1
|
APN |
15 |
74,711,252 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL02156:Cyp11b1
|
APN |
15 |
74,707,646 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL02424:Cyp11b1
|
APN |
15 |
74,711,085 (GRCm39) |
missense |
probably benign |
0.23 |
|
IGL02937:Cyp11b1
|
APN |
15 |
74,708,408 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL03080:Cyp11b1
|
APN |
15 |
74,711,285 (GRCm39) |
splice site |
probably null |
|
|
IGL03101:Cyp11b1
|
APN |
15 |
74,707,703 (GRCm39) |
missense |
probably benign |
0.39 |
|
R1230:Cyp11b1
|
UTSW |
15 |
74,712,791 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1699:Cyp11b1
|
UTSW |
15 |
74,712,666 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1755:Cyp11b1
|
UTSW |
15 |
74,710,383 (GRCm39) |
missense |
probably benign |
|
|
R2913:Cyp11b1
|
UTSW |
15 |
74,708,270 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4361:Cyp11b1
|
UTSW |
15 |
74,710,865 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4459:Cyp11b1
|
UTSW |
15 |
74,708,208 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5822:Cyp11b1
|
UTSW |
15 |
74,708,670 (GRCm39) |
missense |
probably null |
1.00 |
|
R6921:Cyp11b1
|
UTSW |
15 |
74,712,798 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7214:Cyp11b1
|
UTSW |
15 |
74,708,708 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7402:Cyp11b1
|
UTSW |
15 |
74,712,674 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7575:Cyp11b1
|
UTSW |
15 |
74,711,162 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7689:Cyp11b1
|
UTSW |
15 |
74,710,897 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7699:Cyp11b1
|
UTSW |
15 |
74,707,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7700:Cyp11b1
|
UTSW |
15 |
74,707,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8443:Cyp11b1
|
UTSW |
15 |
74,710,789 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R8509:Cyp11b1
|
UTSW |
15 |
74,711,202 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R8836:Cyp11b1
|
UTSW |
15 |
74,710,387 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R8926:Cyp11b1
|
UTSW |
15 |
74,711,087 (GRCm39) |
missense |
probably benign |
0.37 |
|
R9558:Cyp11b1
|
UTSW |
15 |
74,710,789 (GRCm39) |
missense |
probably benign |
0.07 |
|
X0064:Cyp11b1
|
UTSW |
15 |
74,713,436 (GRCm39) |
missense |
probably benign |
0.11 |
|
Z1176:Cyp11b1
|
UTSW |
15 |
74,711,204 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Posted On |
2012-12-06 |
Incidental Mutation