Mutagenetix > Incidental Mutations

Incidental Mutation 'R3276:Dhcr24'

475821

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

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.861) question?

Stock #

R3276 (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 106561239 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 25 (F25L)

Ref Sequence

ENSEMBL: ENSMUSP00000038063 (fasta)

Gene Model

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

AlphaFold

Q8VCH6

Predicted Effect

probably benign
Transcript: ENSMUST00000047973
AA Change: F25L

PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000038063
Gene: ENSMUSG00000034926
AA Change: F25L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137882

Meta Mutation Damage Score

0.1098

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.9%
20x: 93.7%

Validation Efficiency

96% (47/49)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	C	T	8: 86,506,866	R1269H	probably damaging	Het
Ace	A	G	11: 105,976,702	E164G	probably null	Het
Als2	A	T	1: 59,170,008	V1464E	possibly damaging	Het
Atox1	A	G	11: 55,450,553	L52P	possibly damaging	Het
Btnl10	A	G	11: 58,922,390	K282E	probably benign	Het
Cdkn3	T	C	14: 46,771,477		probably benign	Het
Col16a1	A	G	4: 130,057,999	K72E	probably damaging	Het
Col6a5	G	A	9: 105,911,107	R1565*	probably null	Het
Col6a6	T	C	9: 105,786,230	H36R	probably benign	Het
Cyp4b1	T	C	4: 115,625,850	N415D	possibly damaging	Het
Dennd4a	G	T	9: 64,888,993	R767L	probably damaging	Het
Dhrs3	A	G	4: 144,923,940	T219A	probably benign	Het
Dhx58	A	G	11: 100,696,979	F584S	probably damaging	Het
Dmbt1	A	G	7: 131,088,071	T715A	probably benign	Het
Eogt	T	A	6: 97,131,394	I229F	probably benign	Het
Ern2	T	C	7: 122,180,964	T164A	possibly damaging	Het
Fam133b	A	T	5: 3,558,522	N84I	probably damaging	Het
Fbxl21	T	A	13: 56,537,122	Y346*	probably null	Het
Fcgbp	C	A	7: 28,091,661	H782Q	probably damaging	Het
Gm11492	T	C	11: 87,567,244	V148A	possibly damaging	Het
Gm5592	A	G	7: 41,288,380	E362G	probably benign	Het
Golga3	T	C	5: 110,201,998		probably benign	Het
Gpatch2l	A	G	12: 86,244,315	T91A	possibly damaging	Het
Hsp90aa1	T	A	12: 110,695,680	M1L	possibly damaging	Het
Hsp90aa1	C	A	12: 110,695,681		probably null	Het
Itgad	C	A	7: 128,190,981	H651N	possibly damaging	Het
Itgav	A	G	2: 83,776,542	D409G	probably damaging	Het
Kcnt2	A	G	1: 140,609,639	N1119S	probably benign	Het
Klhl32	T	C	4: 24,682,063	I207V	probably benign	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Lhfpl5	T	C	17: 28,579,946	I143T	possibly damaging	Het
Lrrk1	T	C	7: 66,305,521	K431E	possibly damaging	Het
Mag	C	T	7: 30,901,648		probably null	Het
Maml3	A	T	3: 51,856,930	N204K	possibly damaging	Het
Mrpl19	T	C	6: 81,964,066	S115G	probably damaging	Het
Mthfd1l	G	C	10: 4,148,025	G954A	probably damaging	Het
Mut	A	G	17: 40,958,872		probably null	Het
Myo19	A	G	11: 84,892,175	I172V	probably benign	Het
Naca	T	C	10: 128,040,661		probably benign	Het
Nfatc2	T	C	2: 168,506,994	N638D	possibly damaging	Het
Nsun6	A	G	2: 15,009,404		probably benign	Het
Olfr1412	A	G	1: 92,588,813	N161S	probably benign	Het
Olfr584	C	A	7: 103,085,750	D72E	probably damaging	Het
Olfr913	T	A	9: 38,594,643	C141S	probably damaging	Het
Padi6	A	G	4: 140,735,389	L307P	probably damaging	Het
Pafah1b1	G	A	11: 74,690,232	S57F	probably damaging	Het
Prcd	A	G	11: 116,659,811	E103G	possibly damaging	Het
Prkx	A	T	X: 77,771,275	F260I	probably damaging	Het
Rad54l2	A	G	9: 106,753,943		probably null	Het
Ranbp1	T	C	16: 18,247,429		probably benign	Het
Rb1cc1	T	A	1: 6,249,366	M1003K	probably benign	Het
Scap	A	T	9: 110,374,025	M256L	probably benign	Het
Sema4c	C	T	1: 36,549,879	R722H	possibly damaging	Het
Sgk1	C	T	10: 21,996,601	R171W	probably damaging	Het
Spata7	A	G	12: 98,637,598	N75D	possibly damaging	Het
Tmem120b	T	A	5: 123,114,104	I146N	probably damaging	Het
Ttc23l	A	G	15: 10,547,232	F99L	possibly damaging	Het
Ube3a	T	A	7: 59,276,519	C348*	probably null	Het
Ubr4	T	A	4: 139,421,855	D1777E	probably benign	Het
Unc79	C	A	12: 103,113,217	D1880E	probably damaging	Het
Usp36	C	T	11: 118,276,759		probably null	Het
Zswim9	T	C	7: 13,277,270	T51A	possibly 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
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
R8879:Dhcr24	UTSW	4	106573809	missense	probably benign	0.05
X0057:Dhcr24	UTSW	4	106586345	missense	probably benign	0.00

Predicted Primers

Posted On

2017-05-11