Mutagenetix > Incidental Mutations

Incidental Mutation 'R2570:Dhcr24'

252336

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

040428-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.826) question?

Stock #

R2570 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

106561038-106589113 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 106585832 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 355 (F355L)

Ref Sequence

ENSEMBL: ENSMUSP00000038063 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000047973
AA Change: F355L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000038063
Gene: ENSMUSG00000034926
AA Change: F355L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146976

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 94.9%

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
Acad10	T	A	5: 121,630,204	N763I	probably damaging	Het
Actr8	T	C	14: 29,987,282	V281A	probably damaging	Het
Adam1b	A	T	5: 121,501,748	N411K	probably damaging	Het
Adamdec1	T	A	14: 68,579,208	Q77L	probably damaging	Het
Adgre4	T	A	17: 55,778,878	F59Y	possibly damaging	Het
Akr1c18	T	C	13: 4,142,164	N178S	probably benign	Het
Aldh1a7	T	A	19: 20,699,956	T434S	probably benign	Het
B020004J07Rik	T	C	4: 101,837,246	T147A	probably benign	Het
BC067074	C	T	13: 113,318,587	T389I	probably benign	Het
Bcl10	T	A	3: 145,933,030	N142K	probably benign	Het
C1qc	T	C	4: 136,890,091	I231M	probably benign	Het
Cacna1b	A	T	2: 24,606,637	L2307*	probably null	Het
Cadm2	G	A	16: 66,815,383	S106L	probably damaging	Het
Cdc42bpa	G	A	1: 180,150,177	R1518Q	possibly damaging	Het
Cdk12	T	G	11: 98,203,792	M142R	possibly damaging	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,741,236		probably null	Het
Cyp2c50	C	G	19: 40,090,320	H90D	probably benign	Het
Dach1	A	G	14: 97,901,411	M480T	probably benign	Het
Dennd1a	A	T	2: 37,844,783	F57L	probably damaging	Het
Drc1	A	G	5: 30,355,265	R339G	probably damaging	Het
Efna5	A	T	17: 62,881,028	Y35N	probably benign	Het
Ehmt1	A	G	2: 24,815,741	V811A	probably damaging	Het
Fam135a	A	T	1: 24,021,964	V1114E	probably damaging	Het
Frmd8	C	A	19: 5,874,712	R28L	probably damaging	Het
Gm11639	T	A	11: 104,733,664	S840R	probably damaging	Het
Gm9936	A	G	5: 114,857,544		probably benign	Het
Hgsnat	C	T	8: 25,945,252	W618*	probably null	Het
Itgal	T	C	7: 127,314,096	F622L	probably damaging	Het
Kalrn	C	T	16: 34,310,495	E451K	probably damaging	Het
Kat2a	A	T	11: 100,710,822	F256I	probably damaging	Het
Lama4	A	T	10: 39,075,358	D1033V	possibly damaging	Het
Lama4	T	A	10: 39,106,047	D1757E	probably damaging	Het
Laptm5	T	C	4: 130,932,047	Y212H	probably damaging	Het
Lsm10	T	C	4: 126,097,923	L24P	probably damaging	Het
Mtfp1	T	C	11: 4,094,504	E27G	probably damaging	Het
Ncaph2	C	A	15: 89,370,475	D399E	probably benign	Het
Ncor2	T	C	5: 125,028,800		probably null	Het
Nek9	A	C	12: 85,332,546	Y195*	probably null	Het
Npas1	T	C	7: 16,474,703	D83G	probably damaging	Het
Nrsn2	A	T	2: 152,369,821	F97I	possibly damaging	Het
Oas1c	T	C	5: 120,805,438	N10S	probably benign	Het
Olfr545	T	C	7: 102,493,899	N292S	probably damaging	Het
Olfr58	T	A	9: 19,784,009	L292Q	probably damaging	Het
Olfr693	A	G	7: 106,677,667	I273T	probably benign	Het
Pcdha4	A	T	18: 36,953,612	T283S	probably benign	Het
Pdk1	A	C	2: 71,873,560	D64A	possibly damaging	Het
Ptpdc1	C	T	13: 48,586,063	A631T	probably benign	Het
Rasal2	G	T	1: 157,161,300	A660E	possibly damaging	Het
Sgpp2	T	A	1: 78,360,150	V55E	possibly damaging	Het
Shank2	A	T	7: 144,068,770	I214F	probably damaging	Het
Slfn14	T	C	11: 83,283,607	N186S	probably benign	Het
Soga3	A	T	10: 29,146,765	Q36L	possibly damaging	Het
Sptbn5	A	T	2: 120,048,640		noncoding transcript	Het
Stradb	C	T	1: 58,988,584	T91I	probably damaging	Het
Sulf2	T	C	2: 166,085,801	I359V	probably benign	Het
Tbl3	A	T	17: 24,703,316	M405K	possibly damaging	Het
Tecta	G	T	9: 42,332,552	D2001E	probably damaging	Het
Tectb	C	G	19: 55,180,999		probably benign	Het
Tgfbi	T	A	13: 56,638,708		probably null	Het
Tmem132a	A	T	19: 10,859,742	L612Q	probably null	Het
Tnf	T	C	17: 35,200,500	N102S	probably damaging	Het
Trib3	A	T	2: 152,343,236	V31D	probably benign	Het
Ube2q2	T	A	9: 55,191,856	F248L	probably benign	Het
Usf3	T	C	16: 44,216,381	V408A	probably benign	Het
Vmn1r159	T	C	7: 22,842,882	M242V	probably benign	Het
Vmn2r105	A	T	17: 20,227,323	L413H	probably damaging	Het
Zbtb2	T	G	10: 4,368,673	N451T	probably damaging	Het
Zfp593	C	A	4: 134,245,558		probably benign	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
R2139: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
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
X0057:Dhcr24	UTSW	4	106586345	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGTCACCTTACTGTGTTACTGGTC -3'
(R):5'- ACCCAGCTTACGTGGATGTC -3'

Sequencing Primer
(F):5'- GCCATTATAGTTGGTAAACCTGCGAG -3'
(R):5'- CCCAGCTTACGTGGATGTCATTTTG -3'

Posted On

2014-12-04