Incidental Mutation 'IGL02187:Cyp24a1'
| ID |
283685 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.432)
|
| Stock # |
IGL02187
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
170324877-170339065 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 170336013 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 208
(N208I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047954
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038824]
[ENSMUST00000075087]
|
| AlphaFold |
Q64441 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038824
AA Change: N208I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000047954
Gene: ENSMUSG00000038567
AA Change: N208I
| 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 |
|
| Coding Region Coverage |
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts18 |
C |
A |
8: 114,439,826 (GRCm39) |
E922D |
possibly damaging |
Het |
| Asxl3 |
T |
A |
18: 22,658,035 (GRCm39) |
M2015K |
probably damaging |
Het |
| C8a |
C |
A |
4: 104,719,933 (GRCm39) |
R15L |
probably damaging |
Het |
| Catsperg2 |
A |
G |
7: 29,420,791 (GRCm39) |
V47A |
probably benign |
Het |
| Cdhr2 |
C |
T |
13: 54,881,523 (GRCm39) |
T1081I |
possibly damaging |
Het |
| Cenatac |
C |
T |
9: 44,322,084 (GRCm39) |
|
probably benign |
Het |
| Cep85 |
T |
A |
4: 133,858,616 (GRCm39) |
M752L |
possibly damaging |
Het |
| Cxcr3 |
T |
A |
X: 100,776,483 (GRCm39) |
S60C |
probably damaging |
Het |
| Cyp2c38 |
A |
G |
19: 39,424,649 (GRCm39) |
I223T |
probably benign |
Het |
| Dennd6a |
A |
G |
14: 26,328,081 (GRCm39) |
I35V |
probably benign |
Het |
| Emb |
T |
G |
13: 117,405,507 (GRCm39) |
|
probably benign |
Het |
| Fbxo3 |
T |
C |
2: 103,858,295 (GRCm39) |
Y30H |
probably damaging |
Het |
| Fnbp1l |
G |
A |
3: 122,362,449 (GRCm39) |
R120* |
probably null |
Het |
| Galnt2 |
T |
C |
8: 125,032,245 (GRCm39) |
|
probably benign |
Het |
| Gckr |
T |
C |
5: 31,464,768 (GRCm39) |
|
probably benign |
Het |
| Gpr101 |
A |
G |
X: 56,546,841 (GRCm39) |
F103S |
probably damaging |
Het |
| Gprasp1 |
T |
A |
X: 134,699,912 (GRCm39) |
V35E |
probably damaging |
Het |
| Ift80 |
C |
A |
3: 68,892,789 (GRCm39) |
W133L |
probably damaging |
Het |
| Impdh1 |
C |
A |
6: 29,207,086 (GRCm39) |
|
probably benign |
Het |
| Ino80 |
T |
C |
2: 119,275,938 (GRCm39) |
|
probably benign |
Het |
| Kansl1 |
A |
T |
11: 104,269,657 (GRCm39) |
|
probably null |
Het |
| Klhl20 |
C |
T |
1: 160,937,280 (GRCm39) |
V32I |
probably benign |
Het |
| Lrfn3 |
A |
G |
7: 30,055,389 (GRCm39) |
S519P |
probably damaging |
Het |
| Mrpl51 |
A |
G |
6: 125,170,294 (GRCm39) |
N100S |
probably benign |
Het |
| Mybpc3 |
T |
C |
2: 90,965,797 (GRCm39) |
I1203T |
probably benign |
Het |
| Nbr1 |
A |
G |
11: 101,460,185 (GRCm39) |
I394V |
possibly damaging |
Het |
| Nfasc |
G |
A |
1: 132,498,219 (GRCm39) |
T1155M |
probably damaging |
Het |
| Or7g34 |
T |
A |
9: 19,478,393 (GRCm39) |
T96S |
probably benign |
Het |
| Pan3 |
T |
C |
5: 147,463,398 (GRCm39) |
I440T |
probably benign |
Het |
| Patz1 |
T |
C |
11: 3,241,134 (GRCm39) |
L174P |
probably damaging |
Het |
| Paxx |
A |
G |
2: 25,350,668 (GRCm39) |
L62P |
probably damaging |
Het |
| Plekhh1 |
T |
C |
12: 79,119,592 (GRCm39) |
S972P |
probably damaging |
Het |
| Ppp1r13b |
G |
T |
12: 111,801,472 (GRCm39) |
T404K |
probably damaging |
Het |
| Prkaa2 |
T |
C |
4: 104,904,363 (GRCm39) |
N238S |
probably benign |
Het |
| Prpf6 |
T |
C |
2: 181,257,809 (GRCm39) |
Y94H |
probably damaging |
Het |
| Rtn4 |
T |
C |
11: 29,658,291 (GRCm39) |
I815T |
possibly damaging |
Het |
| Slc44a5 |
A |
G |
3: 153,968,554 (GRCm39) |
T582A |
probably benign |
Het |
| Slitrk3 |
A |
G |
3: 72,957,605 (GRCm39) |
L389S |
probably damaging |
Het |
| Srp54b |
T |
A |
12: 55,299,560 (GRCm39) |
M297K |
probably benign |
Het |
| Zfp318 |
C |
T |
17: 46,707,736 (GRCm39) |
R265* |
probably null |
Het |
| Zmym4 |
T |
A |
4: 126,764,066 (GRCm39) |
I1325L |
probably damaging |
Het |
| Zswim2 |
C |
A |
2: 83,753,982 (GRCm39) |
R226L |
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 |
|
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 |
|
R1243:Cyp24a1
|
UTSW |
2 |
170,337,326 (GRCm39) |
missense |
probably benign |
0.28 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation