Mutagenetix > Incidental Mutation

Incidental Mutation 'R7285:Dhcr24'

565926

Institutional Source

Beutler Lab

Gene Symbol

Dhcr24

Ensembl Gene

ENSMUSG00000034926

Gene Name

24-dehydrocholesterol reductase

Synonyms

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

MMRRC Submission

045393-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.872) question?

Stock #

R7285 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106418279-106446310 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 106428716 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000038063 (fasta)

Gene Model

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

AlphaFold

Q8VCH6

Predicted Effect

probably null
Transcript: ENSMUST00000047973

SMART Domains

Protein: ENSMUSP00000038063
Gene: ENSMUSG00000034926

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

Meta Mutation Damage Score

0.9596

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (58/58)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	T	1: 71,388,314 (GRCm39)	C185*	probably null	Het
Abcc3	C	T	11: 94,247,873 (GRCm39)	A1207T	probably benign	Het
Adam1b	T	G	5: 121,639,056 (GRCm39)	D663A	probably damaging	Het
Arhgap12	A	T	18: 6,111,920 (GRCm39)	L148Q	probably damaging	Het
Cdh4	A	T	2: 179,439,258 (GRCm39)	Q135L	probably benign	Het
Clca3b	T	C	3: 144,543,519 (GRCm39)	I437V	probably benign	Het
Cldn15	A	T	5: 137,001,327 (GRCm39)	H124L	probably benign	Het
Cyp4a30b	T	C	4: 115,313,848 (GRCm39)	M143T	probably damaging	Het
Dgcr2	A	T	16: 17,662,944 (GRCm39)	C353*	probably null	Het
Dock1	T	G	7: 134,346,737 (GRCm39)	L223R	probably benign	Het
Ece1	T	A	4: 137,641,074 (GRCm39)		probably null	Het
Efcab5	A	G	11: 77,028,170 (GRCm39)	V387A	probably benign	Het
Efcab5	A	G	11: 77,029,041 (GRCm39)	F97L	possibly damaging	Het
Eme2	A	T	17: 25,113,543 (GRCm39)		probably null	Het
Enpp1	G	A	10: 24,536,059 (GRCm39)	T447I	probably benign	Het
Fam222b	T	C	11: 78,034,007 (GRCm39)	S17P	probably benign	Het
Fbln1	A	G	15: 85,121,829 (GRCm39)	I317V	probably benign	Het
Fn1	T	C	1: 71,676,498 (GRCm39)	K578E	probably damaging	Het
Fscb	A	T	12: 64,518,323 (GRCm39)	S1048T	unknown	Het
Fsd1l	T	A	4: 53,682,200 (GRCm39)		probably null	Het
Hexa	T	A	9: 59,471,222 (GRCm39)	I492K	probably benign	Het
Inpp5e	G	A	2: 26,287,870 (GRCm39)	A642V	probably benign	Het
Ints11	C	T	4: 155,970,568 (GRCm39)	A241V	probably damaging	Het
Irs2	A	G	8: 11,056,797 (GRCm39)	L545P	probably damaging	Het
Katnal2	G	A	18: 77,081,271 (GRCm39)	A409V	probably benign	Het
Kif13a	C	T	13: 46,905,931 (GRCm39)	V671M	possibly damaging	Het
Lbx2	A	G	6: 83,064,877 (GRCm39)	K138R	probably damaging	Het
Lcor	A	G	19: 41,572,754 (GRCm39)	K503R	possibly damaging	Het
Lpp	G	A	16: 24,796,029 (GRCm39)	A558T	probably damaging	Het
Lypla1	T	C	1: 4,911,321 (GRCm39)	I202T	probably benign	Het
Magi3	G	A	3: 103,941,430 (GRCm39)	P842S	probably benign	Het
Meioc	G	A	11: 102,557,168 (GRCm39)	V25M	probably benign	Het
Mthfr	C	T	4: 148,138,056 (GRCm39)	T557I	probably benign	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Or2t44	T	A	11: 58,677,310 (GRCm39)	Y83*	probably null	Het
Or5d20-ps1	A	T	2: 87,932,049 (GRCm39)	I94N	probably damaging	Het
Osbpl10	A	T	9: 115,052,771 (GRCm39)	I440F	probably damaging	Het
Otx2	G	A	14: 48,898,922 (GRCm39)	A36V	probably benign	Het
Parg	A	G	14: 31,932,465 (GRCm39)	Y435C	probably damaging	Het
Parvb	A	T	15: 84,166,985 (GRCm39)	D100V	possibly damaging	Het
Prss27	A	G	17: 24,264,665 (GRCm39)	H276R	probably benign	Het
Prune1	T	A	3: 95,162,357 (GRCm39)	S439C	probably damaging	Het
Pudp	C	G	18: 50,701,287 (GRCm39)	E149Q	possibly damaging	Het
Qng1	T	C	13: 58,532,199 (GRCm39)	Y119C	probably damaging	Het
Sin3a	C	A	9: 57,034,583 (GRCm39)	T1252N	possibly damaging	Het
Sptbn2	A	G	19: 4,787,471 (GRCm39)	D927G	probably benign	Het
Stx18	C	T	5: 38,262,251 (GRCm39)	T89I	possibly damaging	Het
Ticrr	T	C	7: 79,310,610 (GRCm39)	S175P	possibly damaging	Het
Tinag	T	C	9: 76,952,943 (GRCm39)	T14A	probably benign	Het
Tmco3	G	A	8: 13,369,605 (GRCm39)		probably null	Het
Trpm1	G	T	7: 63,859,729 (GRCm39)	E396*	probably null	Het
Txndc11	A	G	16: 10,902,163 (GRCm39)	Y684H	probably damaging	Het
Usp47	G	A	7: 111,692,315 (GRCm39)	E926K	probably benign	Het
Vmn1r233	A	G	17: 21,214,221 (GRCm39)	I243T	probably damaging	Het
Ythdf3	T	A	3: 16,258,049 (GRCm39)		probably null	Het
Zfp12	A	G	5: 143,230,444 (GRCm39)	K289R	probably damaging	Het
Zfp950	T	A	19: 61,107,550 (GRCm39)	H511L	probably benign	Het

Other mutations in Dhcr24

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01305:Dhcr24	APN	4	106,429,475 (GRCm39)	missense	possibly damaging	0.50
IGL01548:Dhcr24	APN	4	106,431,068 (GRCm39)	nonsense	probably null
IGL02110:Dhcr24	APN	4	106,430,998 (GRCm39)	missense	probably damaging	1.00
IGL02256:Dhcr24	APN	4	106,429,517 (GRCm39)	missense	probably damaging	0.98
IGL02748:Dhcr24	APN	4	106,421,589 (GRCm39)	splice site	probably benign
IGL02926:Dhcr24	APN	4	106,443,552 (GRCm39)	missense	probably damaging	0.98
ANU22:Dhcr24	UTSW	4	106,429,475 (GRCm39)	missense	possibly damaging	0.50
R0423:Dhcr24	UTSW	4	106,443,733 (GRCm39)	unclassified	probably benign
R1632:Dhcr24	UTSW	4	106,443,148 (GRCm39)	missense	probably benign
R1771:Dhcr24	UTSW	4	106,435,450 (GRCm39)	missense	probably benign	0.00
R2138:Dhcr24	UTSW	4	106,429,499 (GRCm39)	nonsense	probably null
R2139:Dhcr24	UTSW	4	106,429,499 (GRCm39)	nonsense	probably null
R2420:Dhcr24	UTSW	4	106,418,291 (GRCm39)	start gained	probably benign
R2422:Dhcr24	UTSW	4	106,418,291 (GRCm39)	start gained	probably benign
R2570:Dhcr24	UTSW	4	106,443,029 (GRCm39)	missense	probably benign	0.00
R3176:Dhcr24	UTSW	4	106,418,436 (GRCm39)	missense	probably benign	0.16
R3276:Dhcr24	UTSW	4	106,418,436 (GRCm39)	missense	probably benign	0.16
R3842:Dhcr24	UTSW	4	106,443,002 (GRCm39)	missense	probably damaging	1.00
R3852:Dhcr24	UTSW	4	106,431,070 (GRCm39)	missense	probably benign	0.02
R4037:Dhcr24	UTSW	4	106,431,075 (GRCm39)	missense	probably benign	0.01
R4038:Dhcr24	UTSW	4	106,431,075 (GRCm39)	missense	probably benign	0.01
R4039:Dhcr24	UTSW	4	106,431,075 (GRCm39)	missense	probably benign	0.01
R5831:Dhcr24	UTSW	4	106,421,611 (GRCm39)	missense	probably benign	0.03
R7821:Dhcr24	UTSW	4	106,428,633 (GRCm39)	missense	possibly damaging	0.61
R8012:Dhcr24	UTSW	4	106,443,853 (GRCm39)	missense	probably damaging	1.00
R8879:Dhcr24	UTSW	4	106,431,006 (GRCm39)	missense	probably benign	0.05
X0057:Dhcr24	UTSW	4	106,443,542 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CACTAGTGGACTCAGAACCAG -3'
(R):5'- AGGCACCAAACTCATTCTGTG -3'

Sequencing Primer
(F):5'- TGGACTCAGAACCAGAGATCATATTC -3'
(R):5'- AAACTCATTCTGTGTTTGAGACTGG -3'

Posted On

2019-06-26