Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03089:Cyp24a1'

418293

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) question?

Stock #

IGL03089

Quality Score

Status

Chromosome

Chromosomal Location

170324877-170339065 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 170327886 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Proline at position 452 (H452P)

Ref Sequence

ENSEMBL: ENSMUSP00000047954 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038824]

AlphaFold

Q64441

Predicted Effect

probably damaging
Transcript: ENSMUST00000038824
AA Change: H452P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000047954
Gene: ENSMUSG00000038567
AA Change: H452P

Domain	Start	End	E-Value	Type
Pfam:p450	58	511	6e-108	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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl4	A	G	3: 95,584,556 (GRCm39)	S947P	probably damaging	Het
Agl	T	A	3: 116,574,672 (GRCm39)	H709L	probably damaging	Het
Alpi	T	A	1: 87,027,830 (GRCm39)	D250V	probably benign	Het
Anapc4	A	G	5: 53,023,740 (GRCm39)	S735G	probably benign	Het
Ank1	A	T	8: 23,594,848 (GRCm39)	I611L	probably benign	Het
Canx	A	G	11: 50,195,309 (GRCm39)	V253A	possibly damaging	Het
Cbfa2t3	A	T	8: 123,361,873 (GRCm39)	I383N	probably damaging	Het
Ccn3	C	T	15: 54,612,680 (GRCm39)	R230C	possibly damaging	Het
Cdc23	T	C	18: 34,767,513 (GRCm39)	Y519C	probably damaging	Het
Celsr3	T	A	9: 108,703,806 (GRCm39)	N96K	probably benign	Het
Clptm1	A	G	7: 19,371,072 (GRCm39)	Y355H	probably damaging	Het
Col6a5	C	T	9: 105,811,038 (GRCm39)	S827N	unknown	Het
Cyp21a1	G	T	17: 35,022,420 (GRCm39)		probably null	Het
Cyp2c39	T	A	19: 39,552,295 (GRCm39)	H329Q	probably benign	Het
D630003M21Rik	C	T	2: 158,058,664 (GRCm39)	R412Q	probably benign	Het
Dennd1b	G	A	1: 139,029,767 (GRCm39)	R308Q	possibly damaging	Het
Deup1	T	C	9: 15,519,096 (GRCm39)	S137G	possibly damaging	Het
Dmbt1	T	A	7: 130,712,778 (GRCm39)	I1583N	probably damaging	Het
Dvl1	G	A	4: 155,939,609 (GRCm39)	V320M	probably damaging	Het
Elmod3	A	G	6: 72,546,299 (GRCm39)	S254P	probably damaging	Het
Emsy	G	A	7: 98,286,473 (GRCm39)	Q226*	probably null	Het
Ephb6	C	A	6: 41,591,108 (GRCm39)	D88E	probably damaging	Het
Exoc1	A	G	5: 76,690,005 (GRCm39)	M182V	possibly damaging	Het
Fbxw4	T	G	19: 45,580,160 (GRCm39)		probably benign	Het
Fgr	A	G	4: 132,713,577 (GRCm39)	D35G	probably damaging	Het
Gm20547	A	T	17: 35,080,008 (GRCm39)	D366E	probably damaging	Het
Gucy1a1	T	C	3: 82,004,988 (GRCm39)	N599S	probably damaging	Het
Ighg2b	G	A	12: 113,270,298 (GRCm39)	P240L	probably damaging	Het
Jak3	A	G	8: 72,138,727 (GRCm39)	D975G	probably benign	Het
Klhl26	A	T	8: 70,908,283 (GRCm39)	N24K	probably benign	Het
Letm1	T	A	5: 33,918,202 (GRCm39)	E314D	probably damaging	Het
Lin54	A	T	5: 100,598,852 (GRCm39)	F319L	probably damaging	Het
Lrp5	A	T	19: 3,670,314 (GRCm39)		probably null	Het
Lvrn	T	C	18: 47,013,776 (GRCm39)	F486S	probably damaging	Het
Or1e19	T	C	11: 73,316,009 (GRCm39)	T267A	probably benign	Het
Or2h1b	A	G	17: 37,462,534 (GRCm39)	C110R	probably damaging	Het
Or4c113	T	C	2: 88,885,357 (GRCm39)	R138G	probably benign	Het
Or51m1	A	C	7: 103,578,329 (GRCm39)	I100L	probably benign	Het
Or8g54	A	T	9: 39,706,977 (GRCm39)	Y102F	probably benign	Het
Pramel24	A	G	4: 143,452,703 (GRCm39)	T45A	probably benign	Het
Sap30bp	T	A	11: 115,848,214 (GRCm39)	M112K	possibly damaging	Het
Sbno1	A	G	5: 124,525,374 (GRCm39)		probably benign	Het
Slc30a5	T	C	13: 100,950,338 (GRCm39)	I307V	probably benign	Het
Trim37	T	A	11: 87,080,963 (GRCm39)	D21E	probably damaging	Het
Usp34	T	C	11: 23,396,958 (GRCm39)	F614S	possibly damaging	Het
Usp39	A	C	6: 72,305,622 (GRCm39)	F387C	probably damaging	Het
Vipas39	C	T	12: 87,300,028 (GRCm39)	C149Y	probably damaging	Het
Vmn2r107	C	A	17: 20,595,974 (GRCm39)	H842Q	probably benign	Het
Vps18	T	A	2: 119,123,658 (GRCm39)	V195E	probably benign	Het
Vsx1	A	G	2: 150,527,510 (GRCm39)		probably benign	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
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

2016-08-02