Mutagenetix > Incidental Mutation

Incidental Mutation 'R7893:Cyp24a1'

609423

Institutional Source

Beutler Lab

Gene Symbol

Cyp24a1

Ensembl Gene

ENSMUSG00000038567

Gene Name

cytochrome P450, family 24, subfamily a, polypeptide 1

Synonyms

CP24, 24-OHase, Cyp24, 25-hydroxyvitamin D-24-hydroxylase

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.496) question?

Stock #

R7893 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

170482708-170497145 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to G at 170496516 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000047954 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038824] [ENSMUST00000075087]

AlphaFold

Q64441

Predicted Effect

probably null
Transcript: ENSMUST00000038824

SMART Domains

Protein: ENSMUSP00000047954
Gene: ENSMUSG00000038567

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

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

99% (70/71)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700022I11Rik	T	C	4: 42,971,539	W291R	probably damaging	Het
9130019O22Rik	T	A	7: 127,386,544		probably benign	Het
Abca3	A	T	17: 24,385,466	I604F	probably damaging	Het
Adar	T	A	3: 89,750,651	D1062E	probably damaging	Het
Agap2	A	G	10: 127,080,195	T192A	unknown	Het
Aim2	T	C	1: 173,463,926	V299A	possibly damaging	Het
Arhgap33	T	C	7: 30,528,776	I394V	probably benign	Het
Atg2a	T	C	19: 6,251,296	F800S	probably damaging	Het
Btnl10	T	A	11: 58,923,809	N438K	probably benign	Het
C9	T	A	15: 6,483,245	F283I	possibly damaging	Het
Camk2n2	T	C	16: 20,621,076	N40S	possibly damaging	Het
Cd53	T	A	3: 106,767,386	I122F	probably benign	Het
Col4a1	T	C	8: 11,220,243	D45G	unknown	Het
Copa	T	A	1: 172,119,565	C1085*	probably null	Het
Cpt1b	A	G	15: 89,423,654		probably null	Het
Cyp2c40	A	T	19: 39,786,848	V320E	probably damaging	Het
Efcab7	A	T	4: 99,888,861	D210V	probably damaging	Het
Elfn2	G	A	15: 78,673,168	T393I	probably damaging	Het
Fbxw11	A	T	11: 32,720,489	I152L	probably benign	Het
Gab1	A	T	8: 80,784,766	F483L	possibly damaging	Het
Git2	G	T	5: 114,769,676	R43S	possibly damaging	Het
Gm11639	A	C	11: 104,979,360	S3985R	unknown	Het
Gm43302	G	A	5: 105,289,025	Q72*	probably null	Het
Hcn2	T	C	10: 79,724,411	L192P	probably damaging	Het
Htra4	A	C	8: 25,033,679	F290C	possibly damaging	Het
Ide	C	T	19: 37,284,151	V731I		Het
Igsf9	T	C	1: 172,497,302	L929P	probably damaging	Het
Iqgap2	G	A	13: 95,689,709	A535V	probably damaging	Het
Itga10	T	C	3: 96,649,612	W217R	probably damaging	Het
Kdm2b	A	G	5: 122,947,739	F276L	probably benign	Het
Klf16	T	C	10: 80,576,960	S81G	probably benign	Het
L1td1	G	T	4: 98,733,741	C180F	possibly damaging	Het
Map4k2	A	C	19: 6,353,511	H817P	probably damaging	Het
Marf1	A	T	16: 14,146,735	V446D	probably damaging	Het
Mfsd4b1	A	G	10: 40,007,317	S46P	probably benign	Het
Mylk	G	C	16: 34,879,524	S419T	probably benign	Het
Nckipsd	A	G	9: 108,815,389	H604R	probably damaging	Het
Nedd9	A	T	13: 41,315,789	D629E	probably damaging	Het
Nlrp5	C	T	7: 23,418,165	T438I	probably benign	Het
Olfr1238	T	A	2: 89,407,070	Q3L	probably benign	Het
Olfr507	A	G	7: 108,622,637	K275R	probably damaging	Het
Olfr610	A	T	7: 103,506,610	I112N	possibly damaging	Het
Otud7a	G	T	7: 63,758,552	D868Y	probably damaging	Het
Pcdhga6	T	C	18: 37,708,013	L262S	probably damaging	Het
Plec	C	T	15: 76,172,532	V4402I	possibly damaging	Het
Ppp1r14c	A	T	10: 3,423,510	D107V	probably damaging	Het
Prkg1	A	T	19: 30,586,367	C482S	probably damaging	Het
Prpf40a	A	T	2: 53,156,841	N294K	probably benign	Het
Rbpj	A	G	5: 53,645,874	Y148C	probably damaging	Het
Rnf19a	A	G	15: 36,241,668	S742P	possibly damaging	Het
Rnf207	T	A	4: 152,311,438	Q533L	probably damaging	Het
Rsf1	A	G	7: 97,661,958	T632A		Het
Rtl1	C	T	12: 109,593,921	V495I	possibly damaging	Het
Sh2d3c	T	A	2: 32,749,376	C491*	probably null	Het
Sik1	A	T	17: 31,850,046	L285Q	probably benign	Het
Sipa1l1	T	A	12: 82,341,568	D189E	probably benign	Het
Slc25a25	G	A	2: 32,451,165	Q54*	probably null	Het
Slu7	T	C	11: 43,444,836		probably null	Het
Sorbs3	T	A	14: 70,193,916	N265I	probably benign	Het
Sspo	A	T	6: 48,463,310	E1645V	probably benign	Het
Swap70	A	G	7: 110,221,875	D22G	probably benign	Het
Ttc34	T	C	4: 154,861,300	C264R	probably benign	Het
Ttll2	T	A	17: 7,352,091	T146S	probably benign	Het
Ttn	C	T	2: 76,927,204	E3402K	unknown	Het
Twf1	A	T	15: 94,584,446	S140T	probably benign	Het
Vmn1r12	T	C	6: 57,159,434	L172P	probably damaging	Het
Vmn1r19	T	A	6: 57,404,679	N72K	probably damaging	Het
Vmn2r17	G	A	5: 109,428,078	E272K	probably benign	Het
Zfpm2	A	G	15: 41,102,612	D831G	probably damaging	Het

Other mutations in Cyp24a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01527:Cyp24a1	APN	2	170496566	missense	probably damaging	1.00
IGL02187:Cyp24a1	APN	2	170494093	missense	probably damaging	1.00
IGL02269:Cyp24a1	APN	2	170496572	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
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
R9005:Cyp24a1	UTSW	2	170494085	missense	probably damaging	1.00
R9091:Cyp24a1	UTSW	2	170485933	missense	probably damaging	1.00
R9226:Cyp24a1	UTSW	2	170496357	missense	probably damaging	1.00
R9270:Cyp24a1	UTSW	2	170485933	missense	probably damaging	1.00
R9776:Cyp24a1	UTSW	2	170496705	missense	probably benign	0.10
X0061:Cyp24a1	UTSW	2	170485990	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- TGGCCATACTTCTTGTGGTAC -3'
(R):5'- TGCCCCATTGACAAAAGGC -3'

Sequencing Primer
(F):5'- TGTGGTACTCTGCCTGCAGC -3'
(R):5'- CAAGGTCCGTGACATCCAAGG -3'

Posted On

2019-12-20