Incidental Mutation 'IGL00953:Cyp27b1'
ID28374
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cyp27b1
Ensembl Gene ENSMUSG00000006724
Gene Namecytochrome P450, family 27, subfamily b, polypeptide 1
SynonymsCyp27b, Vdd1, 25(OH)D 1alpha-hydroxylase, 1alpha(OH)ase, P450VD1alpha, 25-hydroxyvitamin D3 1alpha-hydroxylase, Cyp40, Cp2b, Cyp1, VddrI, Pddr, P450c1, Vddr
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00953
Quality Score
Status
Chromosome10
Chromosomal Location127048250-127053006 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 127049682 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 130 (D130G)
Ref Sequence ENSEMBL: ENSMUSP00000130005 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006915] [ENSMUST00000120542] [ENSMUST00000165764] [ENSMUST00000172069]
Predicted Effect probably benign
Transcript: ENSMUST00000006915
SMART Domains Protein: ENSMUSP00000006915
Gene: ENSMUSG00000006732

DomainStartEndE-ValueType
Pfam:Methyltransf_4 70 248 3.5e-62 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120542
SMART Domains Protein: ENSMUSP00000113030
Gene: ENSMUSG00000006732

DomainStartEndE-ValueType
Pfam:Methyltransf_4 29 191 3.9e-44 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000139486
SMART Domains Protein: ENSMUSP00000118885
Gene: ENSMUSG00000006732

DomainStartEndE-ValueType
PDB:3CKK|A 24 85 3e-34 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000165764
AA Change: D130G

PolyPhen 2 Score 0.191 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000130005
Gene: ENSMUSG00000006724
AA Change: D130G

DomainStartEndE-ValueType
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk T C 11: 120,011,221 E726G probably benign Het
Cdyl2 T A 8: 116,595,189 probably benign Het
Cep41 T C 6: 30,660,967 T109A probably benign Het
Clca3b C T 3: 144,847,211 W84* probably null Het
Cyp2f2 T C 7: 27,129,817 V249A possibly damaging Het
Cyth3 G A 5: 143,707,165 probably null Het
Dnah8 G T 17: 30,706,457 E1289* probably null Het
Fam171a1 A T 2: 3,178,290 D51V possibly damaging Het
Farp2 A G 1: 93,561,174 R107G possibly damaging Het
Gemin6 T C 17: 80,227,865 F85L possibly damaging Het
Hivep3 A C 4: 120,098,374 T1296P probably damaging Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Htt T A 5: 34,818,677 S670T probably benign Het
Klhl24 A T 16: 20,122,967 N555I possibly damaging Het
Limd1 T A 9: 123,479,883 S216T probably benign Het
Lmf2 A T 15: 89,353,899 I234N probably damaging Het
Mrpl4 C A 9: 21,008,567 D271E probably benign Het
Mydgf C T 17: 56,179,407 G75R probably damaging Het
Nat1 A G 8: 67,490,978 D5G possibly damaging Het
Olfr178 A C 16: 58,889,685 H178Q probably damaging Het
Olfr190 A T 16: 59,074,689 Y130* probably null Het
Olfr325 T C 11: 58,581,810 V322A probably benign Het
Pla2g4c T A 7: 13,344,026 M363K probably benign Het
Prex1 A G 2: 166,638,409 F137S probably damaging Het
Rbm12b1 A G 4: 12,146,038 D670G probably damaging Het
Rrp12 C A 19: 41,871,792 M997I possibly damaging Het
Scn3a A G 2: 65,497,392 V918A probably benign Het
Slc35g2 A G 9: 100,552,463 V385A probably damaging Het
Slit1 A T 19: 41,602,300 I1311N probably damaging Het
Ube2j2 C T 4: 155,946,377 probably benign Het
Ucp2 A G 7: 100,498,422 T203A probably benign Het
Upk1b C T 16: 38,779,985 G211D possibly damaging Het
Vmn1r220 A T 13: 23,183,765 F254I probably benign Het
Zcchc4 T C 5: 52,808,296 F314S probably damaging Het
Other mutations in Cyp27b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01147:Cyp27b1 APN 10 127050386 missense possibly damaging 0.94
IGL02370:Cyp27b1 APN 10 127050674 splice site probably benign
IGL02670:Cyp27b1 APN 10 127050358 missense probably benign 0.01
IGL02671:Cyp27b1 APN 10 127051043 unclassified probably null
R0483:Cyp27b1 UTSW 10 127050157 missense probably benign 0.02
R0517:Cyp27b1 UTSW 10 127050116 unclassified probably null
R0645:Cyp27b1 UTSW 10 127049098 missense probably benign 0.02
R1479:Cyp27b1 UTSW 10 127051711 critical splice donor site probably null
R1491:Cyp27b1 UTSW 10 127051088 missense probably damaging 0.98
R1830:Cyp27b1 UTSW 10 127049083 missense possibly damaging 0.92
R1929:Cyp27b1 UTSW 10 127048312 missense probably damaging 1.00
R2162:Cyp27b1 UTSW 10 127051060 missense probably damaging 1.00
R2281:Cyp27b1 UTSW 10 127048294 missense probably damaging 0.99
R2291:Cyp27b1 UTSW 10 127048294 missense possibly damaging 0.80
R3831:Cyp27b1 UTSW 10 127051060 missense probably damaging 1.00
R3832:Cyp27b1 UTSW 10 127051060 missense probably damaging 1.00
R3833:Cyp27b1 UTSW 10 127051060 missense probably damaging 1.00
R4306:Cyp27b1 UTSW 10 127051088 missense probably benign 0.21
R5213:Cyp27b1 UTSW 10 127052095 missense probably damaging 1.00
R5405:Cyp27b1 UTSW 10 127050386 missense possibly damaging 0.94
R5463:Cyp27b1 UTSW 10 127052097 missense possibly damaging 0.89
R5906:Cyp27b1 UTSW 10 127048398 missense probably damaging 1.00
R6181:Cyp27b1 UTSW 10 127050410 missense probably damaging 1.00
R6515:Cyp27b1 UTSW 10 127048250 start gained probably benign
R7249:Cyp27b1 UTSW 10 127051049 critical splice acceptor site probably null
Posted On2013-04-17