Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02748:Dhcr24'

306176

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dhcr24

Ensembl Gene

ENSMUSG00000034926

Gene Name

24-dehydrocholesterol reductase

Synonyms

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

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.906) question?

Stock #

IGL02748

Quality Score

Status

Chromosome

Chromosomal Location

106561038-106589113 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 106564392 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000038063 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000047973

SMART Domains

Protein: ENSMUSP00000038063
Gene: ENSMUSG00000034926

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

Coding Region Coverage

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Baiap2l1	T	A	5: 144,266,605		probably benign	Het
Btbd9	T	C	17: 30,334,297	N397S	possibly damaging	Het
Crlf3	A	G	11: 80,059,319	S162P	probably damaging	Het
Dctn2	C	T	10: 127,277,273	R231C	probably damaging	Het
Efcab12	T	A	6: 115,820,102	T364S	probably damaging	Het
Eps8l3	A	G	3: 107,879,368		probably benign	Het
Ezh2	A	G	6: 47,558,239	L92P	probably damaging	Het
Fbxw15	A	G	9: 109,558,210	I239T	possibly damaging	Het
Fndc4	T	C	5: 31,294,786	T96A	possibly damaging	Het
Gcn1l1	G	A	5: 115,610,800		probably null	Het
Ifna13	A	G	4: 88,643,860	S176P	probably damaging	Het
Kcnh1	A	G	1: 192,221,420	H56R	probably damaging	Het
Lrp1b	T	C	2: 40,702,749	D3786G	probably damaging	Het
Mcm3ap	T	A	10: 76,501,248	V1339E	probably damaging	Het
Mthfd1l	T	C	10: 4,018,587	V414A	possibly damaging	Het
Mthfd1l	T	G	10: 3,980,268		probably null	Het
Olfr1118	T	A	2: 87,309,665	L312Q	probably damaging	Het
Olfr1414	A	G	1: 92,511,467	L187P	probably damaging	Het
Olfr262	A	G	19: 12,240,840	F274L	probably benign	Het
Pcdhb15	T	C	18: 37,475,220	S502P	probably damaging	Het
Pde5a	T	A	3: 122,760,892	N242K	probably damaging	Het
Pik3cb	A	T	9: 99,062,968		probably benign	Het
Rab3gap1	A	G	1: 127,937,461	M729V	probably damaging	Het
Rai14	A	G	15: 10,589,335	V259A	probably benign	Het
Rassf4	T	C	6: 116,639,457	I298V	possibly damaging	Het
Senp7	C	T	16: 56,186,094	T927M	probably damaging	Het
Snx27	A	T	3: 94,503,565	I426N	probably benign	Het
Syce1l	A	T	8: 113,655,465		probably benign	Het
Tmem18	T	C	12: 30,588,745	*141Q	probably null	Het
Tnrc6c	T	C	11: 117,732,170	S1006P	probably benign	Het
Utp20	T	C	10: 88,817,295	T308A	probably benign	Het
Vmn2r24	T	A	6: 123,816,098	C795S	possibly damaging	Het
Zdhhc20	A	G	14: 57,858,553	S143P	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
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
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

Posted On

2015-04-16