Mutagenetix > Incidental Mutations

Incidental Mutation 'R2139:Dhcr24'

236029

Institutional Source

Beutler Lab

Gene Symbol

Dhcr24

Ensembl Gene

ENSMUSG00000034926

Gene Name

24-dehydrocholesterol reductase

Synonyms

2310076D10Rik, seladin-1, 5830417J06Rik, 3-beta-hydroxysterol delta-24 reductase

MMRRC Submission

040142-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.889) question?

Stock #

R2139 (G1)

Quality Score

119

Status

Not validated

Chromosome

Chromosomal Location

106561038-106589113 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 106572302 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 191 (E191*)

Ref Sequence

ENSEMBL: ENSMUSP00000038063 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047973]

Predicted Effect

probably null
Transcript: ENSMUST00000047973
AA Change: E191*

SMART Domains

Protein: ENSMUSP00000038063
Gene: ENSMUSG00000034926
AA Change: E191*

Domain	Start	End	E-Value	Type
Pfam:FAD_binding_4	71	203	2e-16	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a flavin adenine dinucleotide (FAD)-dependent oxidoreductase which catalyzes the reduction of the delta-24 double bond of sterol intermediates during cholesterol biosynthesis. The protein contains a leader sequence that directs it to the endoplasmic reticulum membrane. Missense mutations in this gene have been associated with desmosterolosis. Also, reduced expression of the gene occurs in the temporal cortex of Alzheimer disease patients and overexpression has been observed in adrenal gland cancer cells. [provided by RefSeq, Jul 2008]
PHENOTYPE: In spite of having almost no plasma or tissue cholesterol, homozygous mutant mice are largely viable and display a mild growth phenotype. Inactivation did impair prenatal viability as well as infertility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	A	T	9: 46,304,295	F318I	probably damaging	Het
Bfsp2	T	C	9: 103,449,875	K221R	probably benign	Het
Cacna1b	A	C	2: 24,679,473	M813R	probably benign	Het
Chaf1a	T	C	17: 56,065,226	L798P	probably damaging	Het
Chd8	G	A	14: 52,236,971	T201I	probably benign	Het
Col23a1	T	C	11: 51,574,034	S436P	probably benign	Het
Cubn	T	C	2: 13,336,167	I2248V	probably benign	Het
Cyp4f39	A	G	17: 32,491,189	I440M	probably benign	Het
Dlg5	T	C	14: 24,170,544	D522G	probably damaging	Het
Dnaja4	A	T	9: 54,709,222	M170L	probably benign	Het
Dopey2	T	C	16: 93,771,007	S1441P	possibly damaging	Het
Egr2	T	A	10: 67,540,872	S383T	probably damaging	Het
Elovl1	A	G	4: 118,431,106	D94G	probably damaging	Het
Erbb4	A	G	1: 68,346,629	V267A	probably damaging	Het
Esp38	T	A	17: 39,953,384	I11N	probably damaging	Het
Esrrb	T	C	12: 86,421,966		probably null	Het
Fbxo24	A	T	5: 137,613,065	S488T	probably damaging	Het
Fgfr1	T	G	8: 25,570,866	V618G	probably damaging	Het
Gak	C	T	5: 108,606,877		probably null	Het
Gm11639	C	T	11: 104,751,911	T1120I	possibly damaging	Het
Gpr61	A	T	3: 108,150,761	C195S	probably damaging	Het
Greb1l	A	C	18: 10,555,011	N1686H	probably damaging	Het
Hapln4	T	C	8: 70,088,138	F274L	probably benign	Het
Hoxc10	A	T	15: 102,967,477	Q207L	probably benign	Het
Hspa12a	A	G	19: 58,799,482	V636A	probably benign	Het
Il1f8	A	G	2: 24,154,660	N24S	probably benign	Het
Il22ra2	T	A	10: 19,632,870	F215L	probably benign	Het
Kank1	G	A	19: 25,411,753	G930D	probably benign	Het
Kif13a	T	C	13: 46,752,469	D666G	possibly damaging	Het
Krt86	A	T	15: 101,473,758	I70F	probably benign	Het
Lgi4	A	T	7: 31,063,123	I112F	probably damaging	Het
Lrrc8c	T	G	5: 105,606,692	I111S	probably damaging	Het
Ltbp2	T	C	12: 84,815,979	N600S	probably damaging	Het
Marc1	G	A	1: 184,795,435	T276I	probably benign	Het
Mbd3l2	A	T	9: 18,444,958	D193V	probably damaging	Het
Mroh5	T	A	15: 73,790,091	D417V	probably damaging	Het
Ms4a18	A	T	19: 10,997,331	V332D	possibly damaging	Het
Muc4	T	A	16: 32,761,225	I2488N	unknown	Het
Myrf	C	G	19: 10,216,467	A532P	probably damaging	Het
Nav3	T	C	10: 109,853,135	N427S	probably benign	Het
Neb	T	C	2: 52,212,588	S4315G	probably damaging	Het
Nyap2	A	G	1: 81,241,268	D335G	probably damaging	Het
Olfm4	T	C	14: 80,014,315	L225P	probably benign	Het
Olfr1199	T	A	2: 88,756,093	N194I	probably damaging	Het
Olfr283	T	C	15: 98,378,264	N282S	probably damaging	Het
Olfr419	A	T	1: 174,250,736		probably null	Het
Olfr616	A	T	7: 103,564,754	I175K	possibly damaging	Het
Pcdhac2	T	G	18: 37,146,086	Y706*	probably null	Het
Pgbd1	A	G	13: 21,423,020	S335P	probably damaging	Het
Pkhd1l1	A	C	15: 44,529,818	I1850L	possibly damaging	Het
Pogz	T	C	3: 94,871,007	V304A	possibly damaging	Het
Rap1a	T	C	3: 105,739,540	I100V	probably damaging	Het
Slc4a4	A	T	5: 89,046,264	K201M	probably damaging	Het
Slc6a1	T	C	6: 114,304,061	F8S	possibly damaging	Het
St18	T	G	1: 6,810,615	M444R	possibly damaging	Het
Syna	G	T	5: 134,559,252	S281*	probably null	Het
Tgm1	A	G	14: 55,709,543	V336A	probably damaging	Het
Tle6	G	T	10: 81,594,034	T400K	probably damaging	Het
Tmem181a	T	C	17: 6,298,206	W328R	probably damaging	Het
Trim7	T	C	11: 48,838,894	F193L	probably benign	Het
Txndc16	A	T	14: 45,172,589	M178K	probably damaging	Het
Unc80	C	T	1: 66,521,581	H823Y	possibly damaging	Het
Vmn1r74	A	G	7: 11,847,316	Y181C	probably damaging	Het
Vmn2r56	T	A	7: 12,712,963	K421*	probably null	Het
Vwa7	T	G	17: 35,023,430	S503R	probably benign	Het
Washc5	G	A	15: 59,350,142	T135M	probably damaging	Het
Wdr6	T	C	9: 108,574,123	I854V	probably benign	Het
Zfp507	A	G	7: 35,793,723	C632R	probably damaging	Het

Other mutations in Dhcr24

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01305:Dhcr24	APN	4	106572278	missense	possibly damaging	0.50
IGL01548:Dhcr24	APN	4	106573871	nonsense	probably null
IGL02110:Dhcr24	APN	4	106573801	missense	probably damaging	1.00
IGL02256:Dhcr24	APN	4	106572320	missense	probably damaging	0.98
IGL02748:Dhcr24	APN	4	106564392	splice site	probably benign
IGL02926:Dhcr24	APN	4	106586355	missense	probably damaging	0.98
ANU22:Dhcr24	UTSW	4	106572278	missense	possibly damaging	0.50
R0423:Dhcr24	UTSW	4	106586536	unclassified	probably benign
R1632:Dhcr24	UTSW	4	106585951	missense	probably benign
R1771:Dhcr24	UTSW	4	106578253	missense	probably benign	0.00
R2138:Dhcr24	UTSW	4	106572302	nonsense	probably null
R2420:Dhcr24	UTSW	4	106561094	start gained	probably benign
R2422:Dhcr24	UTSW	4	106561094	start gained	probably benign
R2570:Dhcr24	UTSW	4	106585832	missense	probably benign	0.00
R3176:Dhcr24	UTSW	4	106561239	missense	probably benign	0.16
R3276:Dhcr24	UTSW	4	106561239	missense	probably benign	0.16
R3842:Dhcr24	UTSW	4	106585805	missense	probably damaging	1.00
R3852:Dhcr24	UTSW	4	106573873	missense	probably benign	0.02
R4037:Dhcr24	UTSW	4	106573878	missense	probably benign	0.01
R4038:Dhcr24	UTSW	4	106573878	missense	probably benign	0.01
R4039:Dhcr24	UTSW	4	106573878	missense	probably benign	0.01
R5831:Dhcr24	UTSW	4	106564414	missense	probably benign	0.03
R7285:Dhcr24	UTSW	4	106571519	critical splice donor site	probably null
R7821:Dhcr24	UTSW	4	106571436	missense	possibly damaging	0.61
R8012:Dhcr24	UTSW	4	106586656	missense	probably damaging	1.00
X0057:Dhcr24	UTSW	4	106586345	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CTGATGGATGGGGAATGTCC -3'
(R):5'- GAGCTAGTTATCCTTCATCCGG -3'

Sequencing Primer
(F):5'- GGGAATGTCCTATCTTAGCAGCC -3'
(R):5'- CACCGTAATGTGTACAACGTG -3'

Posted On

2014-10-01