Incidental Mutation 'IGL03209:Cyp51'
| ID |
413246 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cyp51
|
| Ensembl Gene |
ENSMUSG00000001467 |
| Gene Name |
cytochrome P450, family 51 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03209
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
4131145-4154746 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 4154195 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Histidine
at position 38
(L38H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001507
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001507]
|
| AlphaFold |
Q8K0C4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000001507
AA Change: L38H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000001507
Gene: ENSMUSG00000001467
AA Change: L38H
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
|
Pfam:p450
|
61 |
496 |
1.9e-76 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129448
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151539
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199909
|
| 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 endoplasmic reticulum protein participates in the synthesis of cholesterol by catalyzing the removal of the 14alpha-methyl group from lanosterol. Homologous genes are found in all three eukaryotic phyla, fungi, plants, and animals, suggesting that this is one of the oldest cytochrome P450 genes. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit skeletal and craniofacial abnormalities and die at late midgestation due to heart failure resulting from cardiac hypoplasia, ventricle septum, epicardial and vasculogenesis defects. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts13 |
C |
T |
2: 26,882,973 (GRCm39) |
A841V |
probably benign |
Het |
| Alms1 |
A |
G |
6: 85,576,955 (GRCm39) |
|
probably benign |
Het |
| Arc |
A |
T |
15: 74,543,833 (GRCm39) |
L130Q |
probably damaging |
Het |
| Arhgap28 |
C |
T |
17: 68,175,951 (GRCm39) |
V383I |
probably damaging |
Het |
| Atf6 |
T |
C |
1: 170,662,463 (GRCm39) |
S266G |
probably benign |
Het |
| Cd59b |
A |
G |
2: 103,914,905 (GRCm39) |
E101G |
probably benign |
Het |
| Cdc26 |
T |
C |
4: 62,313,251 (GRCm39) |
K30R |
possibly damaging |
Het |
| Clns1a |
A |
G |
7: 97,360,937 (GRCm39) |
D103G |
probably null |
Het |
| Crispld2 |
C |
A |
8: 120,757,837 (GRCm39) |
A394E |
possibly damaging |
Het |
| Dnah7a |
T |
G |
1: 53,725,773 (GRCm39) |
|
probably benign |
Het |
| Fbxw2 |
T |
C |
2: 34,712,675 (GRCm39) |
R129G |
probably damaging |
Het |
| Fgd3 |
T |
C |
13: 49,439,294 (GRCm39) |
Q234R |
probably damaging |
Het |
| Gdpgp1 |
A |
G |
7: 79,888,847 (GRCm39) |
T293A |
probably damaging |
Het |
| Hspa12a |
T |
G |
19: 58,810,493 (GRCm39) |
|
probably null |
Het |
| Ier5l |
G |
T |
2: 30,363,067 (GRCm39) |
D319E |
possibly damaging |
Het |
| Iigp1c |
T |
A |
18: 60,379,143 (GRCm39) |
I226N |
probably damaging |
Het |
| Ikzf1 |
T |
C |
11: 11,650,226 (GRCm39) |
V3A |
probably benign |
Het |
| Itga2 |
T |
C |
13: 115,017,168 (GRCm39) |
N180D |
probably damaging |
Het |
| Lipt1 |
T |
C |
1: 37,914,150 (GRCm39) |
S69P |
probably damaging |
Het |
| Lvrn |
A |
G |
18: 47,022,565 (GRCm39) |
I734V |
probably benign |
Het |
| Man2c1 |
A |
G |
9: 57,049,114 (GRCm39) |
T871A |
probably benign |
Het |
| Ndufs1 |
A |
T |
1: 63,203,896 (GRCm39) |
C129S |
probably damaging |
Het |
| Neb |
A |
T |
2: 52,180,831 (GRCm39) |
F1232I |
probably damaging |
Het |
| Ngly1 |
T |
A |
14: 16,281,831 (GRCm38) |
Y362* |
probably null |
Het |
| Or2h2c |
A |
T |
17: 37,422,413 (GRCm39) |
S154T |
probably benign |
Het |
| Or5ak23 |
A |
T |
2: 85,244,723 (GRCm39) |
S167T |
probably benign |
Het |
| Patj |
A |
G |
4: 98,353,377 (GRCm39) |
D640G |
probably null |
Het |
| Plxnd1 |
A |
T |
6: 115,939,318 (GRCm39) |
M1502K |
probably damaging |
Het |
| Sccpdh |
T |
C |
1: 179,514,238 (GRCm39) |
V429A |
possibly damaging |
Het |
| Slc25a48 |
T |
C |
13: 56,618,272 (GRCm39) |
V303A |
probably benign |
Het |
| Sult2a6 |
T |
C |
7: 13,959,897 (GRCm39) |
D212G |
probably benign |
Het |
| Tep1 |
A |
T |
14: 51,078,160 (GRCm39) |
|
probably benign |
Het |
| Tmem65 |
A |
G |
15: 58,656,751 (GRCm39) |
|
probably benign |
Het |
| Togaram2 |
T |
C |
17: 72,002,740 (GRCm39) |
|
probably null |
Het |
| Trim36 |
T |
C |
18: 46,300,575 (GRCm39) |
T687A |
probably benign |
Het |
| Unc13b |
T |
A |
4: 43,239,351 (GRCm39) |
D3471E |
probably damaging |
Het |
| Urgcp |
T |
C |
11: 5,667,238 (GRCm39) |
|
probably null |
Het |
| Zfhx4 |
A |
T |
3: 5,466,231 (GRCm39) |
I2155F |
probably damaging |
Het |
| Zfp831 |
T |
A |
2: 174,487,059 (GRCm39) |
V578E |
probably benign |
Het |
|
| Other mutations in Cyp51 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02045:Cyp51
|
APN |
5 |
4,133,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02047:Cyp51
|
APN |
5 |
4,149,244 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02191:Cyp51
|
APN |
5 |
4,150,147 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02492:Cyp51
|
APN |
5 |
4,154,304 (GRCm39) |
missense |
probably benign |
0.01 |
|
PIT4515001:Cyp51
|
UTSW |
5 |
4,149,122 (GRCm39) |
critical splice donor site |
probably null |
|
|
PIT4520001:Cyp51
|
UTSW |
5 |
4,151,200 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0535:Cyp51
|
UTSW |
5 |
4,149,202 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2048:Cyp51
|
UTSW |
5 |
4,136,636 (GRCm39) |
splice site |
probably benign |
|
|
R2165:Cyp51
|
UTSW |
5 |
4,136,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2851:Cyp51
|
UTSW |
5 |
4,149,183 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3975:Cyp51
|
UTSW |
5 |
4,141,877 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4799:Cyp51
|
UTSW |
5 |
4,133,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5699:Cyp51
|
UTSW |
5 |
4,151,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6163:Cyp51
|
UTSW |
5 |
4,150,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6484:Cyp51
|
UTSW |
5 |
4,136,627 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7046:Cyp51
|
UTSW |
5 |
4,150,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7155:Cyp51
|
UTSW |
5 |
4,137,846 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7877:Cyp51
|
UTSW |
5 |
4,152,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7904:Cyp51
|
UTSW |
5 |
4,150,173 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8094:Cyp51
|
UTSW |
5 |
4,136,490 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8095:Cyp51
|
UTSW |
5 |
4,136,490 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8938:Cyp51
|
UTSW |
5 |
4,150,202 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8963:Cyp51
|
UTSW |
5 |
4,136,519 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9097:Cyp51
|
UTSW |
5 |
4,149,172 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R9173:Cyp51
|
UTSW |
5 |
4,136,504 (GRCm39) |
missense |
probably benign |
|
|
R9416:Cyp51
|
UTSW |
5 |
4,150,198 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2016-08-02 |
Incidental Mutation