Incidental Mutation 'IGL02269:Cyp24a1'
ID287052
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cyp24a1
Ensembl Gene ENSMUSG00000038567
Gene Namecytochrome P450, family 24, subfamily a, polypeptide 1
SynonymsCP24, 24-OHase, Cyp24, 25-hydroxyvitamin D-24-hydroxylase
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.448) question?
Stock #IGL02269
Quality Score
Status
Chromosome2
Chromosomal Location170482708-170497145 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 170496572 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Aspartic acid at position 68 (G68D)
Ref Sequence ENSEMBL: ENSMUSP00000047954 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038824] [ENSMUST00000075087]
Predicted Effect probably damaging
Transcript: ENSMUST00000038824
AA Change: G68D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000047954
Gene: ENSMUSG00000038567
AA Change: G68D

DomainStartEndE-ValueType
Pfam:p450 58 511 6e-108 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000075087
SMART Domains Protein: ENSMUSP00000074596
Gene: ENSMUSG00000052033

DomainStartEndE-ValueType
Pfam:Prefoldin_2 1 69 1.9e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126086
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933414I15Rik A G 11: 50,942,598 V59A unknown Het
A2ml1 C A 6: 128,553,338 probably benign Het
Akap13 G A 7: 75,602,911 R263H probably benign Het
B3galt5 A G 16: 96,315,530 D121G possibly damaging Het
Becn1 A G 11: 101,291,535 probably benign Het
Carmil1 A T 13: 24,155,410 L150* probably null Het
Cep170 A T 1: 176,769,366 M475K probably benign Het
Cyp3a44 A T 5: 145,805,737 I18N probably benign Het
Dmrt2 T C 19: 25,678,459 V474A probably benign Het
Dtnb A G 12: 3,596,691 D64G probably damaging Het
Epb41l3 T C 17: 69,247,573 S223P probably damaging Het
Ephb2 A G 4: 136,771,049 Y240H possibly damaging Het
Extl3 T C 14: 65,077,583 Y50C probably damaging Het
Fat3 A C 9: 15,915,577 S4360A possibly damaging Het
Fbxo9 A T 9: 78,087,553 V230E probably damaging Het
Frmd4a T C 2: 4,604,234 M971T probably benign Het
Gm7275 A G 16: 48,073,822 noncoding transcript Het
Hyal6 C T 6: 24,740,859 T337I probably damaging Het
Obsl1 C T 1: 75,487,713 V1650M probably damaging Het
Olfr143 A T 9: 38,253,936 D173V possibly damaging Het
Olfr341 A T 2: 36,479,567 S188T possibly damaging Het
Olfr619 T A 7: 103,603,882 I76N probably damaging Het
Olfr860 A T 9: 19,845,728 I297N possibly damaging Het
Pcdh7 A C 5: 57,913,322 E1114A probably damaging Het
Pde8a C T 7: 81,308,802 probably benign Het
Pdzrn4 A T 15: 92,769,850 S628C probably damaging Het
Pear1 C T 3: 87,756,264 G376S probably damaging Het
Plekha6 C T 1: 133,287,849 T644M possibly damaging Het
Plpp1 T A 13: 112,856,992 C153S probably damaging Het
Ptpn3 G A 4: 57,197,510 T793M possibly damaging Het
Rdh13 A T 7: 4,445,498 L5Q possibly damaging Het
Rimbp2 G T 5: 128,774,295 D862E probably damaging Het
Rita1 C T 5: 120,609,793 A147T probably damaging Het
Scamp1 C T 13: 94,232,186 probably benign Het
Scamp3 A G 3: 89,180,734 T178A probably benign Het
Sh3tc1 A G 5: 35,706,284 V853A probably benign Het
Snrnp200 C T 2: 127,229,991 T1197M possibly damaging Het
Sult3a1 T C 10: 33,879,263 F275L probably benign Het
Tenm4 A T 7: 96,823,822 I905F probably damaging Het
Tgm3 T A 2: 130,024,518 S119T probably benign Het
Tmem131l A T 3: 83,938,050 D424E possibly damaging Het
Tmem45b G T 9: 31,427,983 C145* probably null Het
Unc5c G A 3: 141,788,982 R352H probably damaging Het
Vmn2r12 A G 5: 109,086,477 L623P probably damaging Het
Vmn2r68 T C 7: 85,221,739 M779V possibly damaging Het
Zfhx2 T C 14: 55,071,936 N902S probably benign Het
Other mutations in Cyp24a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01527:Cyp24a1 APN 2 170496566 missense probably damaging 1.00
IGL02187:Cyp24a1 APN 2 170494093 missense probably damaging 1.00
IGL02273:Cyp24a1 APN 2 170496358 missense probably damaging 1.00
IGL03089:Cyp24a1 APN 2 170485966 missense probably damaging 1.00
R0359:Cyp24a1 UTSW 2 170491699 missense possibly damaging 0.94
R1037:Cyp24a1 UTSW 2 170491617 missense probably damaging 1.00
R1243:Cyp24a1 UTSW 2 170495406 missense probably benign 0.28
R1601:Cyp24a1 UTSW 2 170485691 missense possibly damaging 0.48
R1696:Cyp24a1 UTSW 2 170486043 missense probably benign 0.10
R1839:Cyp24a1 UTSW 2 170496741 missense probably benign
R1845:Cyp24a1 UTSW 2 170487917 missense probably benign 0.06
R4832:Cyp24a1 UTSW 2 170496178 missense probably benign 0.07
R5649:Cyp24a1 UTSW 2 170496309 missense possibly damaging 0.87
R6320:Cyp24a1 UTSW 2 170486784 missense probably benign 0.13
R6668:Cyp24a1 UTSW 2 170485885 critical splice donor site probably null
R6823:Cyp24a1 UTSW 2 170487979 missense probably benign 0.12
R6953:Cyp24a1 UTSW 2 170487946 missense probably benign
R7136:Cyp24a1 UTSW 2 170494143 missense probably benign 0.15
R7287:Cyp24a1 UTSW 2 170485906 missense probably damaging 1.00
R7831:Cyp24a1 UTSW 2 170485940 missense probably damaging 1.00
R7893:Cyp24a1 UTSW 2 170496516 critical splice donor site probably null
R8193:Cyp24a1 UTSW 2 170485702 missense probably damaging 1.00
R8206:Cyp24a1 UTSW 2 170491669 missense possibly damaging 0.83
R8296:Cyp24a1 UTSW 2 170490116 missense probably damaging 1.00
R8384:Cyp24a1 UTSW 2 170486769 critical splice donor site probably null
X0061:Cyp24a1 UTSW 2 170485990 missense probably benign 0.03
Posted On2015-04-16