Mutagenetix > Incidental Mutations

Incidental Mutation 'R3852:Dhcr24'

275958

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

040784-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.849) question?

Stock #

R3852 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

106561038-106589113 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 106573873 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 253 (E253G)

Ref Sequence

ENSEMBL: ENSMUSP00000038063 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000047973
AA Change: E253G

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000038063
Gene: ENSMUSG00000034926
AA Change: E253G

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

96% (45/47)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf3	T	C	16: 20,560,439	V685A	probably damaging	Het
Abhd4	T	C	14: 54,265,367	Y44H	probably damaging	Het
AI429214	A	G	8: 36,994,442	D248G	probably damaging	Het
AY358078	A	G	14: 51,805,553	T233A	unknown	Het
Calcr	T	C	6: 3,693,735	Y353C	probably damaging	Het
Ccdc34	A	G	2: 110,032,428	K193E	possibly damaging	Het
Dnah6	A	G	6: 73,127,927	V1841A	possibly damaging	Het
Dpp10	A	T	1: 123,485,924	Y186*	probably null	Het
Dpysl4	C	T	7: 139,100,935	T575M	probably damaging	Het
Dusp7	T	A	9: 106,373,893	S406T	probably benign	Het
Gga3	T	A	11: 115,587,542	T475S	probably benign	Het
Gm10271	T	A	10: 116,956,874	K36*	probably null	Het
Gm572	G	A	4: 148,668,872	E325K	possibly damaging	Het
Golga2	A	G	2: 32,305,611	E806G	probably benign	Het
Igf1	A	T	10: 87,915,319	K126*	probably null	Het
Itpkc	A	T	7: 27,227,612	N292K	probably benign	Het
Klhl1	A	T	14: 96,280,205	M345K	probably benign	Het
Lrp2	A	G	2: 69,537,565	V201A	probably damaging	Het
Lrrc8a	C	T	2: 30,261,960	T757M	probably benign	Het
Mios	T	A	6: 8,216,453	I459K	probably benign	Het
Mrps11	T	C	7: 78,790,645	I94T	probably damaging	Het
Ms4a4c	T	A	19: 11,416,395	S68T	probably benign	Het
Mstn	C	T	1: 53,061,971	T69I	possibly damaging	Het
Myo10	A	G	15: 25,779,626	K28E	probably damaging	Het
Nol6	A	G	4: 41,117,452	S914P	probably damaging	Het
Ntn1	C	G	11: 68,385,793	D110H	probably damaging	Het
Olfr547	C	A	7: 102,535,280	H178N	probably benign	Het
Olfr585	T	C	7: 103,098,184	S148P	probably damaging	Het
Pcdh17	C	T	14: 84,447,259	Q389*	probably null	Het
Pik3r2	G	A	8: 70,770,421	R452C	probably benign	Het
Prr14l	T	C	5: 32,830,345	E602G	probably damaging	Het
Rusc2	C	A	4: 43,416,424	Q577K	probably benign	Het
Sacm1l	T	A	9: 123,587,576	M534K	probably damaging	Het
Shroom3	G	T	5: 92,943,086	V1151F	probably damaging	Het
Slco4a1	C	T	2: 180,464,091	T22M	probably benign	Het
Svs1	C	T	6: 48,987,994	P312L	possibly damaging	Het
Tas2r104	A	T	6: 131,684,925	C274S	probably benign	Het
Tnrc6c	C	T	11: 117,723,529	R838W	probably damaging	Het
Trim43c	T	A	9: 88,840,401	H33Q	probably damaging	Het
Ttc17	A	T	2: 94,369,413	I411K	possibly damaging	Het
Ttn	G	T	2: 76,751,334	L23072I	possibly damaging	Het
Ttn	A	C	2: 76,955,024	V669G	possibly damaging	Het
Vmn1r60	A	T	7: 5,545,027	F25I	possibly damaging	Het
Vmn2r9	A	G	5: 108,848,131	I217T	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
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
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
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'- GGTCAAGCTCTCAGCCTATG -3'
(R):5'- CATTTCTGAGGAAGCCTGTTACC -3'

Sequencing Primer
(F):5'- AAGCTCTCAGCCTATGCCAATTC -3'
(R):5'- TGAGGAAGCCTGTTACCTGCATC -3'

Posted On

2015-04-06