Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02670:Cyp27b1'

302902

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

Cyp27b, 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 #

IGL02670

Quality Score

Status

Chromosome

Chromosomal Location

127048250-127053006 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 127050358 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 303 (S303P)

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

probably benign
Transcript: ENSMUST00000165764
AA Change: S303P

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000130005
Gene: ENSMUSG00000006724
AA Change: S303P

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	C	T	3: 36,967,305	Q2193*	probably null	Het
Asb1	T	C	1: 91,546,918		probably benign	Het
Cnot6	G	A	11: 49,685,114	Q178*	probably null	Het
Col5a1	C	T	2: 27,974,715	A737V	unknown	Het
Dnah5	T	C	15: 28,409,296	L3620P	probably damaging	Het
Dock7	A	T	4: 98,966,286		probably null	Het
Fam161b	T	C	12: 84,357,594	D104G	probably benign	Het
Fam8a1	A	G	13: 46,673,604	M284V	possibly damaging	Het
Fkbp3	T	A	12: 65,069,103	K65*	probably null	Het
Gatb	A	G	3: 85,613,551		probably null	Het
Gm572	A	T	4: 148,651,228	H38L	probably benign	Het
Gm6576	A	C	15: 27,025,512		noncoding transcript	Het
L2hgdh	G	A	12: 69,692,480	R406W	possibly damaging	Het
Lmo7	A	T	14: 101,880,980	T214S	probably damaging	Het
Map3k12	T	C	15: 102,503,546	H361R	probably benign	Het
Mios	T	C	6: 8,235,378		probably benign	Het
Mta1	T	C	12: 113,130,121	L315P	probably damaging	Het
Pask	A	C	1: 93,310,818	V1315G	probably damaging	Het
Pias4	A	T	10: 81,164,070	C50S	probably damaging	Het
Rgs11	G	A	17: 26,207,631	V279I	probably benign	Het
Sgk1	T	A	10: 21,928,546	C92S	probably benign	Het
Slc2a13	C	T	15: 91,497,509	G259E	probably damaging	Het
Slc5a4b	A	G	10: 76,075,100	C301R	probably damaging	Het
Sstr4	G	T	2: 148,396,533	G355*	probably null	Het
Tnrc6a	T	A	7: 123,171,312	L775Q	possibly damaging	Het
Vmn1r218	A	G	13: 23,137,004	I94V	probably benign	Het
Xpa	A	G	4: 46,185,682	F99L	probably benign	Het

Other mutations in Cyp27b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00953:Cyp27b1	APN	10	127049682	missense	probably benign	0.19
IGL01147:Cyp27b1	APN	10	127050386	missense	possibly damaging	0.94
IGL02370:Cyp27b1	APN	10	127050674	splice site	probably benign
IGL02671:Cyp27b1	APN	10	127051043	splice site	probably null
R0483:Cyp27b1	UTSW	10	127050157	missense	probably benign	0.02
R0517:Cyp27b1	UTSW	10	127050116	splice site	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
R8075:Cyp27b1	UTSW	10	127051513	missense	probably damaging	1.00
R9425:Cyp27b1	UTSW	10	127050137	missense	probably damaging	1.00
R9686:Cyp27b1	UTSW	10	127050316	missense	probably benign	0.00

Posted On

2015-04-16