Incidental Mutation 'R1243:Cyp24a1'
| ID |
152057 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp24a1
|
| Ensembl Gene |
ENSMUSG00000038567 |
| Gene Name |
cytochrome P450, family 24, subfamily a, polypeptide 1 |
| Synonyms |
Cyp24, 25-hydroxyvitamin D-24-hydroxylase, CP24, 24-OHase |
| MMRRC Submission |
039310-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.432)
|
| Stock # |
R1243 (G1)
|
| Quality Score |
204 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
170324877-170339065 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 170337326 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 154
(E154G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047954
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038824]
[ENSMUST00000075087]
|
| AlphaFold |
Q64441 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038824
AA Change: E154G
PolyPhen 2
Score 0.280 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000047954
Gene: ENSMUSG00000038567
AA Change: E154G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:p450
|
58 |
511 |
6e-108 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075087
|
| SMART Domains |
Protein: ENSMUSP00000074596
Gene: ENSMUSG00000052033
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Prefoldin_2
|
1 |
69 |
1.9e-18 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126086
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: The protein encoded by this gene localizes to the mitochondrion, where it degrades calcitriol to calcitetrol. This gene is upregulated by binding of calcitriol to the upstream regulatory region and to a downstream enhancer region, thereby allowing calcitriol to autoregulate its concentration in the cell. The encoded protein may also play a role in calcium homeostasis. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for disruption of this gene suffer a 50% mortality rate between birth and weaning. abnormalities are seen in the development of membranous bones. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 16 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ajm1 |
C |
T |
2: 25,468,570 (GRCm39) |
R447Q |
possibly damaging |
Het |
| Casp8ap2 |
A |
G |
4: 32,645,687 (GRCm39) |
S1587G |
probably benign |
Het |
| Disp2 |
C |
T |
2: 118,622,303 (GRCm39) |
R1012C |
probably damaging |
Het |
| Dync2h1 |
A |
G |
9: 7,120,882 (GRCm39) |
L2135P |
probably benign |
Het |
| Epb41l2 |
A |
G |
10: 25,364,941 (GRCm39) |
R578G |
possibly damaging |
Het |
| Mus81 |
G |
C |
19: 5,535,145 (GRCm39) |
R295G |
probably benign |
Het |
| Myh3 |
T |
C |
11: 66,981,279 (GRCm39) |
I714T |
possibly damaging |
Het |
| Myof |
A |
G |
19: 37,924,540 (GRCm39) |
L1251P |
probably damaging |
Het |
| Nos1 |
A |
G |
5: 118,043,537 (GRCm39) |
Y604C |
probably damaging |
Het |
| Or5ak22 |
T |
C |
2: 85,230,617 (GRCm39) |
S87G |
probably benign |
Het |
| Pappa2 |
T |
A |
1: 158,672,670 (GRCm39) |
Q1091L |
probably damaging |
Het |
| Pdia4 |
C |
T |
6: 47,784,054 (GRCm39) |
D117N |
probably damaging |
Het |
| Relch |
T |
C |
1: 105,678,089 (GRCm39) |
L1114P |
probably damaging |
Het |
| Slc34a1 |
G |
A |
13: 55,559,944 (GRCm39) |
A304T |
possibly damaging |
Het |
| Vmn2r98 |
A |
T |
17: 19,286,210 (GRCm39) |
E236V |
possibly damaging |
Het |
| Zfp956 |
A |
G |
6: 47,932,985 (GRCm39) |
T87A |
probably damaging |
Het |
|
| Other mutations in Cyp24a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01527:Cyp24a1
|
APN |
2 |
170,338,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02187:Cyp24a1
|
APN |
2 |
170,336,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02269:Cyp24a1
|
APN |
2 |
170,338,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02273:Cyp24a1
|
APN |
2 |
170,338,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03089:Cyp24a1
|
APN |
2 |
170,327,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0359:Cyp24a1
|
UTSW |
2 |
170,333,619 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1037:Cyp24a1
|
UTSW |
2 |
170,333,537 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1601:Cyp24a1
|
UTSW |
2 |
170,327,611 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R1696:Cyp24a1
|
UTSW |
2 |
170,327,963 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1839:Cyp24a1
|
UTSW |
2 |
170,338,661 (GRCm39) |
missense |
probably benign |
|
|
R1845:Cyp24a1
|
UTSW |
2 |
170,329,837 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4832:Cyp24a1
|
UTSW |
2 |
170,338,098 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5649:Cyp24a1
|
UTSW |
2 |
170,338,229 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6320:Cyp24a1
|
UTSW |
2 |
170,328,704 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6668:Cyp24a1
|
UTSW |
2 |
170,327,805 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6823:Cyp24a1
|
UTSW |
2 |
170,329,899 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6953:Cyp24a1
|
UTSW |
2 |
170,329,866 (GRCm39) |
missense |
probably benign |
|
|
R7136:Cyp24a1
|
UTSW |
2 |
170,336,063 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7287:Cyp24a1
|
UTSW |
2 |
170,327,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7831:Cyp24a1
|
UTSW |
2 |
170,327,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7893:Cyp24a1
|
UTSW |
2 |
170,338,436 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8193:Cyp24a1
|
UTSW |
2 |
170,327,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8206:Cyp24a1
|
UTSW |
2 |
170,333,589 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8296:Cyp24a1
|
UTSW |
2 |
170,332,036 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8384:Cyp24a1
|
UTSW |
2 |
170,328,689 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9005:Cyp24a1
|
UTSW |
2 |
170,336,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9091:Cyp24a1
|
UTSW |
2 |
170,327,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9226:Cyp24a1
|
UTSW |
2 |
170,338,277 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9270:Cyp24a1
|
UTSW |
2 |
170,327,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9776:Cyp24a1
|
UTSW |
2 |
170,338,625 (GRCm39) |
missense |
probably benign |
0.10 |
|
X0061:Cyp24a1
|
UTSW |
2 |
170,327,910 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGCTTGTAACTGTTCCCTCGGTG -3'
(R):5'- AGAGACACAGTGAGCCTCTTTCGG -3'
Sequencing Primer
(F):5'- GAGAGAGACAGCATCTCCCTTC -3'
(R):5'- GAGCCTCTTTCGGGTCAG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation