Mutagenetix > Incidental Mutation

Incidental Mutation 'R1839:Cyp24a1'

205573

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: 0.420) question?

Stock #

R1839 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

170482708-170497145 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 170496741 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 12 (I12V)

Ref Sequence

ENSEMBL: ENSMUSP00000047954 (fasta)

Gene Model

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

AlphaFold

Q64441

Predicted Effect

probably benign
Transcript: ENSMUST00000038824
AA Change: I12V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000047954
Gene: ENSMUSG00000038567
AA Change: I12V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126086

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 97.4%
3x: 96.7%
10x: 94.7%
20x: 90.6%

Validation Efficiency

98% (90/92)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	T	C	3: 124,409,720	T403A	probably damaging	Het
Acat3	T	A	17: 12,928,606	R175*	probably null	Het
Adam1b	C	A	5: 121,501,041	C647F	probably damaging	Het
Adam28	T	C	14: 68,639,210	N197S	possibly damaging	Het
Adcy2	C	T	13: 68,689,261		probably null	Het
Adcy5	A	T	16: 35,248,940	N426I	probably damaging	Het
Adgre1	T	C	17: 57,441,299	S500P	probably benign	Het
Aloxe3	A	G	11: 69,130,085	Y212C	probably damaging	Het
Ap3d1	A	G	10: 80,727,108	S180P	probably damaging	Het
Arhgap20	C	T	9: 51,849,326	R790W	probably damaging	Het
Atp8b4	C	A	2: 126,361,782	A757S	possibly damaging	Het
Begain	G	A	12: 109,035,323		probably benign	Het
Ccdc141	T	C	2: 77,011,665	E1474G	probably benign	Het
Ccdc88b	A	G	19: 6,854,109		probably benign	Het
Ccnk	A	G	12: 108,195,074	T195A	probably damaging	Het
Cd55b	C	A	1: 130,414,105	C265F	probably damaging	Het
Celsr3	A	G	9: 108,829,906	H1196R	probably benign	Het
Cenpt	T	C	8: 105,849,014	S190G	possibly damaging	Het
Chd8	T	C	14: 52,204,883	S2077G	probably benign	Het
Col6a5	G	A	9: 105,864,833	H2296Y	probably benign	Het
Cxxc4	C	A	3: 134,240,653	H332N	probably damaging	Het
Cyp3a57	T	A	5: 145,381,301	L364Q	probably damaging	Het
Ddi2	T	C	4: 141,713,526	I47V	probably benign	Het
Ddx5	A	T	11: 106,784,897	D322E	probably benign	Het
Dhx40	A	G	11: 86,789,297	C405R	possibly damaging	Het
Emc1	T	C	4: 139,360,485	F100S	probably damaging	Het
Exoc2	T	C	13: 30,906,497		probably benign	Het
Gm10110	A	T	14: 89,897,836		noncoding transcript	Het
Gm17332	T	C	11: 31,182,386	H26R	possibly damaging	Het
Gna12	T	C	5: 140,762,612	N183S	probably benign	Het
Gpx6	A	G	13: 21,312,327	N24D	probably benign	Het
Gsdma3	C	T	11: 98,629,858	A105V	probably benign	Het
Hsd3b5	T	C	3: 98,619,728	Y134C	probably benign	Het
Ifi213	T	C	1: 173,589,600	I415M	probably damaging	Het
Ints9	C	A	14: 65,016,530	P278T	probably damaging	Het
Krt79	C	T	15: 101,937,938	E192K	possibly damaging	Het
Lrrk2	A	G	15: 91,683,134	N132S	probably benign	Het
Ltn1	T	A	16: 87,416,264	K470*	probably null	Het
Magi2	A	T	5: 20,465,827	T163S	probably damaging	Het
Mcm9	A	G	10: 53,541,553	M18T	probably damaging	Het
Med12l	A	G	3: 59,068,319	T212A	probably benign	Het
Mfhas1	T	C	8: 35,590,858	L829P	possibly damaging	Het
Mgme1	T	A	2: 144,279,487	C288S	probably benign	Het
Muc4	G	C	16: 32,753,919	R1265P	probably benign	Het
Myh7	T	C	14: 54,973,180	N1725S	possibly damaging	Het
Nat6	G	A	9: 107,583,017	R37H	possibly damaging	Het
Nme4	A	T	17: 26,092,097	W165R	probably damaging	Het
Nup205	T	A	6: 35,219,714	D1128E	probably benign	Het
Olfr291	T	C	7: 84,856,548	Y60H	probably damaging	Het
Olfr330	A	T	11: 58,529,373	Y204*	probably null	Het
Pcdh1	T	C	18: 38,199,485	D155G	possibly damaging	Het
Pex12	A	T	11: 83,297,822	S116T	probably damaging	Het
Plekhh1	C	T	12: 79,078,957		probably benign	Het
Plekhh3	A	G	11: 101,163,600		probably benign	Het
Pnpt1	T	C	11: 29,154,342	M572T	possibly damaging	Het
Ppp1r12b	T	C	1: 134,837,981	R667G	probably benign	Het
Rbpms2	ACTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGCTGC	9: 65,651,666		probably benign	Het
Rgs14	T	C	13: 55,382,838		probably benign	Het
Rhbdf2	A	T	11: 116,600,191	V645E	possibly damaging	Het
Robo3	A	G	9: 37,422,327	V696A	probably benign	Het
Sall1	A	G	8: 89,028,716	F1212L	possibly damaging	Het
Sdc4	T	C	2: 164,429,012	E109G	probably benign	Het
Serpind1	G	T	16: 17,342,992	R462L	probably damaging	Het
Smad9	CTTT	CTT	3: 54,789,179		probably benign	Het
Sstr4	C	A	2: 148,395,533	N21K	probably benign	Het
Tap1	C	T	17: 34,188,109	A77V	possibly damaging	Het
Thap4	T	C	1: 93,750,287	E259G	probably benign	Het
Thra	A	G	11: 98,756,143	N30S	probably benign	Het
Tmem207	A	T	16: 26,524,821	V27E	possibly damaging	Het
Top3a	A	G	11: 60,753,888	V305A	probably damaging	Het
Trim59	A	T	3: 69,037,638	I123K	probably damaging	Het
Ttn	T	C	2: 76,861,495		probably benign	Het
Ubac1	T	A	2: 26,007,738	E290V	possibly damaging	Het
Unc13b	T	C	4: 43,258,308		probably benign	Het
Uri1	A	T	7: 37,967,389	D206E	probably benign	Het
Utp4	A	G	8: 106,913,454	H465R	probably benign	Het
Uvssa	T	C	5: 33,389,752	S221P	probably benign	Het
Vmn1r39	T	C	6: 66,805,233		probably null	Het
Vps39	A	T	2: 120,325,397	L514H	probably damaging	Het
Vps72	G	A	3: 95,119,218	R158Q	possibly damaging	Het
Wdr59	T	C	8: 111,485,340	D366G	probably benign	Het
Zfp366	C	A	13: 99,228,492	Q54K	probably damaging	Het
Zfp523	T	A	17: 28,194,993	I34N	probably damaging	Het
Zfp974	G	A	7: 27,910,356	P648L	possibly 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
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
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'- AACTATTTACCAGTGTGTCGTGC -3'
(R):5'- TATTTTACCACACCCGCGGC -3'

Sequencing Primer
(F):5'- AATCTCCAGTAGGCTGCCCAG -3'
(R):5'- ACCCGCGGCTTCTGTTTG -3'

Posted On

2014-06-23