Mutagenetix > Incidental Mutation

Incidental Mutation 'R7821:Dhcr24'

601855

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

045875-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.872) question?

Stock #

R7821 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106418279-106446310 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 106428633 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 138 (S138P)

Ref Sequence

ENSEMBL: ENSMUSP00000038063 (fasta)

Gene Model

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

AlphaFold

Q8VCH6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000047973
AA Change: S138P

PolyPhen 2 Score 0.607 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000038063
Gene: ENSMUSG00000034926
AA Change: S138P

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

Meta Mutation Damage Score

0.1712

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

98% (61/62)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	T	A	6: 23,120,929 (GRCm39)	T112S	probably damaging	Het
Abca12	G	T	1: 71,298,950 (GRCm39)	S2320R	probably benign	Het
Abca7	TGGTGCGTGAG	TG	10: 79,838,424 (GRCm39)		probably benign	Het
Adh7	T	A	3: 137,932,136 (GRCm39)	I250N	probably damaging	Het
Albfm1	T	C	5: 90,740,747 (GRCm39)	V560A	possibly damaging	Het
Aoc1	T	A	6: 48,882,745 (GRCm39)	I229N	probably damaging	Het
C2cd6	A	T	1: 59,106,951 (GRCm39)	Y291*	probably null	Het
Cacnb4	T	C	2: 52,324,520 (GRCm39)	D514G	possibly damaging	Het
Ccdc202	A	G	14: 96,119,486 (GRCm39)	Q81R	possibly damaging	Het
Clec2g	A	G	6: 128,925,740 (GRCm39)	T50A	probably benign	Het
Col6a5	T	C	9: 105,741,458 (GRCm39)	E2487G	probably damaging	Het
D130040H23Rik	A	T	8: 69,752,887 (GRCm39)		probably null	Het
D6Ertd527e	G	A	6: 87,087,879 (GRCm39)	S14N	unknown	Het
Dchs1	G	A	7: 105,414,352 (GRCm39)	T821I	probably benign	Het
Dhrs9	G	A	2: 69,224,782 (GRCm39)	G157R	probably damaging	Het
Dnah5	T	A	15: 28,411,678 (GRCm39)	D3682E	possibly damaging	Het
Dst	T	C	1: 34,314,443 (GRCm39)		probably null	Het
Fat1	A	T	8: 45,403,261 (GRCm39)	H4L	probably benign	Het
Flnb	A	G	14: 7,939,113 (GRCm38)	I2319V	probably benign	Het
Foxe1	T	C	4: 46,344,578 (GRCm39)	W129R	probably damaging	Het
Foxred2	G	A	15: 77,827,550 (GRCm39)	P603L	probably benign	Het
Fshr	A	G	17: 89,293,641 (GRCm39)	S346P	probably damaging	Het
Galnt2	T	A	8: 125,070,134 (GRCm39)	S550R	possibly damaging	Het
Gpc2	A	G	5: 138,274,559 (GRCm39)	S312P	probably benign	Het
Gpr150	C	A	13: 76,204,511 (GRCm39)	A145S	probably benign	Het
Grk4	T	A	5: 34,867,553 (GRCm39)	W173R	probably damaging	Het
Hoxb9	C	G	11: 96,162,537 (GRCm39)	P57R	probably damaging	Het
Hsf5	A	G	11: 87,528,954 (GRCm39)	Q563R	probably benign	Het
Ighv1-58	A	G	12: 115,275,796 (GRCm39)	F114S	possibly damaging	Het
Klra9	T	A	6: 130,162,563 (GRCm39)	I158F	probably damaging	Het
Lrrc8d	T	C	5: 105,960,210 (GRCm39)	S207P	probably damaging	Het
Nbeal2	T	C	9: 110,459,320 (GRCm39)	E1929G	probably damaging	Het
Ncoa1	A	G	12: 4,346,221 (GRCm39)	M89T	probably benign	Het
Nkx2-4	T	C	2: 146,927,208 (GRCm39)	I20V	probably benign	Het
Nup214	T	C	2: 31,916,917 (GRCm39)	S1191P	possibly damaging	Het
Or2n1d	A	G	17: 38,646,855 (GRCm39)	D269G	probably benign	Het
Pfkp	T	A	13: 6,647,908 (GRCm39)	N556I	probably damaging	Het
Pidd1	A	T	7: 141,022,193 (GRCm39)	S199T	probably benign	Het
Pik3r2	T	A	8: 71,222,408 (GRCm39)	I515F	probably damaging	Het
Plcxd2	T	A	16: 45,785,524 (GRCm39)	I294F	probably damaging	Het
Prmt6	C	A	3: 110,158,303 (GRCm39)		probably benign	Het
Prpf8	A	G	11: 75,385,300 (GRCm39)	I812V	probably benign	Het
Rasa2	T	C	9: 96,462,537 (GRCm39)		probably null	Het
Rsad1	A	C	11: 94,435,288 (GRCm39)	D266E	probably benign	Het
Rsf1	GGCG	GGCGACGGCTGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Shroom3	T	A	5: 93,088,705 (GRCm39)	V485E	probably damaging	Het
Siae	T	A	9: 37,556,196 (GRCm39)	Y451N	probably damaging	Het
Slc7a11	A	T	3: 50,335,476 (GRCm39)	I354N	probably damaging	Het
Spryd7	A	T	14: 61,783,129 (GRCm39)		probably null	Het
Srcap	A	G	7: 127,129,499 (GRCm39)		probably benign	Het
Svep1	T	A	4: 58,179,601 (GRCm39)	D214V	probably damaging	Het
Tmtc4	T	C	14: 123,209,289 (GRCm39)	I119V	probably benign	Het
Trim5	G	A	7: 103,927,633 (GRCm39)	T169I	probably benign	Het
Ttc33	T	C	15: 5,241,506 (GRCm39)	F83S	probably benign	Het
Ubr5	A	T	15: 37,997,431 (GRCm39)	S1741T	probably damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Wdcp	A	G	12: 4,907,975 (GRCm39)	N694S	probably benign	Het
Zfp174	T	A	16: 3,666,041 (GRCm39)	I102N	probably damaging	Het
Zfp354a	T	C	11: 50,960,539 (GRCm39)	F248S	probably damaging	Het
Zfyve26	A	T	12: 79,302,098 (GRCm39)	C404S	probably damaging	Het
Zmynd8	A	T	2: 165,723,000 (GRCm39)		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
R7285:Dhcr24	UTSW	4	106,428,716 (GRCm39)	critical splice donor site	probably null
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'- GCTGGATGATAGATGCCTTCTTC -3'
(R):5'- GCTATTTCTGGCCCAAACGG -3'

Sequencing Primer
(F):5'- GGAAGATGAACTGAACATTTGTTGTG -3'
(R):5'- CCAAACGGGAGAGTAGCC -3'

Posted On

2019-12-03