Incidental Mutation 'IGL01147:Cyp27b1'
| ID |
52168 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cyp27b1
|
| Ensembl Gene |
ENSMUSG00000006724 |
| Gene Name |
cytochrome P450, family 27, subfamily b, polypeptide 1 |
| Synonyms |
1alpha(OH)ase, 25-hydroxyvitamin D3 1alpha-hydroxylase, 25(OH)D 1alpha-hydroxylase, Cyp40, Cp2b, Cyp1, Pddr, Vdd1, Vddr, Cyp27b, P450c1, VddrI, P450VD1alpha |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01147
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
126884119-126888875 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 126886255 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 312
(T312I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130005
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006915]
[ENSMUST00000040307]
[ENSMUST00000120542]
[ENSMUST00000165764]
[ENSMUST00000172069]
|
| AlphaFold |
O35084 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006915
|
| SMART Domains |
Protein: ENSMUSP00000006915
Gene: ENSMUSG00000006732
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Methyltransf_4
|
70 |
248 |
3.5e-62 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040307
|
| SMART Domains |
Protein: ENSMUSP00000041581
Gene: ENSMUSG00000040502
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
20 |
45 |
N/A |
INTRINSIC |
|
low complexity region
|
50 |
60 |
N/A |
INTRINSIC |
|
low complexity region
|
76 |
105 |
N/A |
INTRINSIC |
|
RINGv
|
109 |
156 |
7.51e-18 |
SMART |
|
transmembrane domain
|
183 |
205 |
N/A |
INTRINSIC |
|
Blast:AAA
|
211 |
238 |
2e-9 |
BLAST |
|
low complexity region
|
267 |
284 |
N/A |
INTRINSIC |
|
low complexity region
|
291 |
302 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120542
|
| SMART Domains |
Protein: ENSMUSP00000113030
Gene: ENSMUSG00000006732
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Methyltransf_4
|
29 |
191 |
3.9e-44 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139486
|
| SMART Domains |
Protein: ENSMUSP00000118885
Gene: ENSMUSG00000006732
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3CKK|A
|
24 |
85 |
3e-34 |
PDB |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000165764
AA Change: T312I
PolyPhen 2
Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000130005
Gene: ENSMUSG00000006724
AA Change: T312I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:p450
|
40 |
504 |
7.1e-97 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171868
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172069
|
| 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. The protein encoded by this gene localizes to the inner mitochondrial membrane where it hydroxylates 25-hydroxyvitamin D3 at the 1alpha position. This reaction synthesizes 1alpha,25-dihydroxyvitamin D3, the active form of vitamin D3, which binds to the vitamin D receptor and regulates calcium metabolism. Thus this enzyme regulates the level of biologically active vitamin D and plays an important role in calcium homeostasis. Mutations in this gene can result in vitamin D-dependent rickets type I. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit hypocalcemia, hyperparathyroidism, retarded growth, enlarged lymph nodes, and rickets. Females have uterine hypoplasia and lack corpora lutea, resulting in infertility. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc3 |
A |
G |
11: 94,234,611 (GRCm39) |
|
probably benign |
Het |
| Aen |
G |
A |
7: 78,557,050 (GRCm39) |
M299I |
probably damaging |
Het |
| Cdh1 |
C |
A |
8: 107,387,516 (GRCm39) |
T472K |
probably damaging |
Het |
| Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
| Cfap57 |
A |
T |
4: 118,446,198 (GRCm39) |
V688E |
probably damaging |
Het |
| Cfp |
G |
A |
X: 20,794,981 (GRCm39) |
R155C |
probably damaging |
Het |
| Chst7 |
T |
C |
X: 19,926,991 (GRCm39) |
I346T |
probably damaging |
Het |
| Crybg2 |
G |
A |
4: 133,816,575 (GRCm39) |
|
probably null |
Het |
| Ctsc |
T |
A |
7: 87,951,479 (GRCm39) |
V242D |
possibly damaging |
Het |
| D6Wsu163e |
A |
G |
6: 126,921,815 (GRCm39) |
D80G |
possibly damaging |
Het |
| Enpp3 |
G |
T |
10: 24,650,805 (GRCm39) |
T777K |
probably damaging |
Het |
| H2-M1 |
T |
A |
17: 36,982,199 (GRCm39) |
H134L |
possibly damaging |
Het |
| Heatr1 |
T |
C |
13: 12,452,793 (GRCm39) |
S2105P |
probably damaging |
Het |
| Herc2 |
T |
C |
7: 55,806,697 (GRCm39) |
S2388P |
probably benign |
Het |
| Igkv6-23 |
A |
G |
6: 70,237,922 (GRCm39) |
|
probably benign |
Het |
| Il1rapl2 |
C |
T |
X: 137,121,325 (GRCm39) |
|
probably benign |
Het |
| Itpka |
T |
C |
2: 119,573,254 (GRCm39) |
L132P |
probably benign |
Het |
| Jak3 |
T |
C |
8: 72,136,047 (GRCm39) |
S616P |
probably benign |
Het |
| Kcnj11 |
T |
C |
7: 45,748,193 (GRCm39) |
K377E |
probably benign |
Het |
| Map4k3 |
A |
T |
17: 80,944,147 (GRCm39) |
|
probably null |
Het |
| Parp1 |
T |
C |
1: 180,417,145 (GRCm39) |
I643T |
probably damaging |
Het |
| Phf3 |
T |
C |
1: 30,843,250 (GRCm39) |
D1903G |
probably damaging |
Het |
| Picalm |
G |
T |
7: 89,826,800 (GRCm39) |
S416I |
probably benign |
Het |
| Pkn2 |
T |
C |
3: 142,534,770 (GRCm39) |
N285S |
probably benign |
Het |
| Sh3gl2 |
A |
C |
4: 85,265,433 (GRCm39) |
|
probably benign |
Het |
| Smpd1 |
C |
A |
7: 105,204,943 (GRCm39) |
T274K |
probably damaging |
Het |
| Snap91 |
G |
A |
9: 86,680,611 (GRCm39) |
T424M |
probably benign |
Het |
| Sox13 |
T |
A |
1: 133,320,873 (GRCm39) |
T46S |
probably benign |
Het |
| Syne1 |
G |
A |
10: 5,002,691 (GRCm39) |
Q8075* |
probably null |
Het |
| Trio |
T |
C |
15: 27,881,406 (GRCm39) |
E555G |
probably damaging |
Het |
| Upf3b |
T |
C |
X: 36,360,586 (GRCm39) |
E298G |
probably damaging |
Het |
| Vmn1r158 |
A |
G |
7: 22,490,204 (GRCm39) |
S2P |
probably benign |
Het |
| Vmn1r6 |
T |
A |
6: 56,979,626 (GRCm39) |
L74H |
probably damaging |
Het |
| Vwa2 |
T |
C |
19: 56,890,066 (GRCm39) |
S224P |
probably damaging |
Het |
| Wbp1l |
T |
A |
19: 46,632,808 (GRCm39) |
V36E |
probably damaging |
Het |
| Zfp367 |
A |
G |
13: 64,283,253 (GRCm39) |
S300P |
probably damaging |
Het |
|
| Other mutations in Cyp27b1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00953:Cyp27b1
|
APN |
10 |
126,885,551 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02370:Cyp27b1
|
APN |
10 |
126,886,543 (GRCm39) |
splice site |
probably benign |
|
|
IGL02670:Cyp27b1
|
APN |
10 |
126,886,227 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02671:Cyp27b1
|
APN |
10 |
126,886,912 (GRCm39) |
splice site |
probably null |
|
|
R0483:Cyp27b1
|
UTSW |
10 |
126,886,026 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0517:Cyp27b1
|
UTSW |
10 |
126,885,985 (GRCm39) |
splice site |
probably null |
|
|
R0645:Cyp27b1
|
UTSW |
10 |
126,884,967 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1479:Cyp27b1
|
UTSW |
10 |
126,887,580 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1491:Cyp27b1
|
UTSW |
10 |
126,886,957 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1830:Cyp27b1
|
UTSW |
10 |
126,884,952 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1929:Cyp27b1
|
UTSW |
10 |
126,884,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2162:Cyp27b1
|
UTSW |
10 |
126,886,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2281:Cyp27b1
|
UTSW |
10 |
126,884,163 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2291:Cyp27b1
|
UTSW |
10 |
126,884,163 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R3831:Cyp27b1
|
UTSW |
10 |
126,886,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3832:Cyp27b1
|
UTSW |
10 |
126,886,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3833:Cyp27b1
|
UTSW |
10 |
126,886,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4306:Cyp27b1
|
UTSW |
10 |
126,886,957 (GRCm39) |
missense |
probably benign |
0.21 |
|
R5213:Cyp27b1
|
UTSW |
10 |
126,887,964 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5405:Cyp27b1
|
UTSW |
10 |
126,886,255 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5463:Cyp27b1
|
UTSW |
10 |
126,887,966 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5906:Cyp27b1
|
UTSW |
10 |
126,884,267 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6181:Cyp27b1
|
UTSW |
10 |
126,886,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6515:Cyp27b1
|
UTSW |
10 |
126,884,119 (GRCm39) |
start gained |
probably benign |
|
|
R7249:Cyp27b1
|
UTSW |
10 |
126,886,918 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8075:Cyp27b1
|
UTSW |
10 |
126,887,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9425:Cyp27b1
|
UTSW |
10 |
126,886,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9686:Cyp27b1
|
UTSW |
10 |
126,886,185 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2013-06-21 |
Incidental Mutation