Mutagenetix > Incidental Mutation

Incidental Mutation 'R8879:Dhcr24'

676750

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

068747-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.865) question?

Stock #

R8879 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106418279-106446310 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 106431006 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 232 (I232V)

Ref Sequence

ENSEMBL: ENSMUSP00000038063 (fasta)

Gene Model

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

AlphaFold

Q8VCH6

Predicted Effect

probably benign
Transcript: ENSMUST00000047973
AA Change: I232V

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000038063
Gene: ENSMUSG00000034926
AA Change: I232V

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (69/69)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130401M01Rik	C	T	15: 57,885,905 (GRCm39)	V326M	probably damaging	Het
Adap2	T	A	11: 80,047,785 (GRCm39)	H80Q	probably benign	Het
Ang4	T	C	14: 52,001,943 (GRCm39)	T2A	probably benign	Het
Arf2	T	C	11: 103,870,585 (GRCm39)		probably null	Het
B3gnt4	A	G	5: 123,649,211 (GRCm39)	D192G	probably damaging	Het
BC034090	T	C	1: 155,102,103 (GRCm39)	I54V	probably benign	Het
Catsper3	A	G	13: 55,952,708 (GRCm39)	T202A	probably benign	Het
Cenpe	T	A	3: 134,965,862 (GRCm39)	D2113E	probably damaging	Het
Clasp2	T	C	9: 113,602,773 (GRCm39)	V191A	probably benign	Het
Col5a1	G	T	2: 27,904,170 (GRCm39)	A1356S	unknown	Het
Cuzd1	A	G	7: 130,910,577 (GRCm39)	S573P	probably damaging	Het
Cyp1a2	C	A	9: 57,589,168 (GRCm39)	M215I	possibly damaging	Het
Dcaf17	T	A	2: 70,893,746 (GRCm39)	I122K	possibly damaging	Het
Dnah10	A	G	5: 124,895,181 (GRCm39)	E3570G	probably damaging	Het
Dnaja4	A	T	9: 54,621,988 (GRCm39)		probably benign	Het
Efcab3	T	C	11: 104,581,781 (GRCm39)	I41T	probably benign	Het
Ehd1	A	G	19: 6,348,354 (GRCm39)	D444G	probably damaging	Het
Ehmt1	T	A	2: 24,726,488 (GRCm39)	M766L	possibly damaging	Het
Eno4	A	G	19: 58,959,154 (GRCm39)	I613M	probably benign	Het
Exoc3l	A	T	8: 106,017,181 (GRCm39)	M602K		Het
Fam107a	C	T	14: 8,301,352 (GRCm38)		probably null	Het
Frem3	A	T	8: 81,339,777 (GRCm39)	D690V	probably damaging	Het
Gm19410	A	T	8: 36,239,022 (GRCm39)	D97V	probably damaging	Het
Grik5	T	A	7: 24,722,489 (GRCm39)	D540V	possibly damaging	Het
Hint1	T	A	11: 54,760,769 (GRCm39)	D69E	probably benign	Het
Krt13	T	C	11: 100,010,211 (GRCm39)	T257A	probably benign	Het
Lpin2	T	C	17: 71,549,749 (GRCm39)	L676P	probably damaging	Het
Lrguk	A	G	6: 34,006,618 (GRCm39)	E76G	probably benign	Het
Lrrc8a	A	G	2: 30,146,310 (GRCm39)	M375V	probably benign	Het
Lrrtm3	T	C	10: 63,925,017 (GRCm39)	Q50R	possibly damaging	Het
Mmrn1	T	A	6: 60,953,513 (GRCm39)	L598Q	probably damaging	Het
Mrs2	A	G	13: 25,185,767 (GRCm39)	I135T	probably damaging	Het
Neb	T	C	2: 52,125,592 (GRCm39)	D475G		Het
Notch2	A	G	3: 98,042,915 (GRCm39)	S1427G	possibly damaging	Het
Odad4	G	T	11: 100,457,752 (GRCm39)	E452*	probably null	Het
Opcml	T	C	9: 28,813,447 (GRCm39)	F246S	probably damaging	Het
Or10al2	C	A	17: 37,983,302 (GRCm39)	Y129*	probably null	Het
Or2ag1b	A	T	7: 106,288,296 (GRCm39)	I214N	probably damaging	Het
Or56a42-ps1	A	G	7: 104,775,893 (GRCm39)	V195A	probably benign	Het
Or6c69	A	G	10: 129,747,731 (GRCm39)	C139R	probably damaging	Het
Or8g33	A	C	9: 39,337,515 (GRCm39)	V284G	possibly damaging	Het
Pdzd2	C	A	15: 12,402,405 (GRCm39)	V729F	probably damaging	Het
Pias2	C	T	18: 77,234,464 (GRCm39)	Q565*	probably null	Het
Pnp	T	A	14: 51,188,177 (GRCm39)		probably null	Het
Ptpn18	T	C	1: 34,502,211 (GRCm39)	S76P	probably benign	Het
Qtrt2	A	T	16: 43,683,560 (GRCm39)	L304Q	probably damaging	Het
Rad51ap2	A	T	12: 11,507,401 (GRCm39)	E441V	possibly damaging	Het
Ranbp2	T	A	10: 58,313,711 (GRCm39)	V1477E	probably benign	Het
Repin1	C	T	6: 48,574,367 (GRCm39)	T432I	possibly damaging	Het
Rest	G	A	5: 77,430,358 (GRCm39)	G926R	probably benign	Het
Rnft1	T	A	11: 86,377,516 (GRCm39)	F143L	possibly damaging	Het
Sema3e	A	T	5: 14,282,108 (GRCm39)	I415L	probably benign	Het
Slc10a1	T	A	12: 81,014,369 (GRCm39)	N117I	probably damaging	Het
Slc25a23	G	A	17: 57,366,709 (GRCm39)		probably benign	Het
Slc2a2	T	C	3: 28,767,951 (GRCm39)	S160P	possibly damaging	Het
Srrd	A	G	5: 112,486,322 (GRCm39)	V178A	possibly damaging	Het
Tmigd3	G	T	3: 105,829,277 (GRCm39)	G198C	probably benign	Het
Trbv28	G	A	6: 41,248,339 (GRCm39)	M1I	probably null	Het
Tril	A	G	6: 53,796,569 (GRCm39)	S218P	probably damaging	Het
Trip11	T	C	12: 101,828,857 (GRCm39)	K1749R	probably benign	Het
Ttn	A	G	2: 76,660,995 (GRCm39)	V12011A		Het
Ubr4	T	G	4: 139,137,829 (GRCm39)	F1093V	probably benign	Het
Urb2	C	A	8: 124,755,142 (GRCm39)	A283E	probably benign	Het
Usp43	T	A	11: 67,789,707 (GRCm39)		probably benign	Het
Vmn1r28	A	T	6: 58,242,669 (GRCm39)	I171F	probably benign	Het
Vps33a	G	A	5: 123,671,962 (GRCm39)	R469W	probably damaging	Het
Zfp202	G	A	9: 40,123,053 (GRCm39)	R605Q	probably damaging	Het
Zpbp2	A	T	11: 98,445,446 (GRCm39)	H158L	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
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
X0057:Dhcr24	UTSW	4	106,443,542 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCTCTGAAACAGGGAGCAGTAG -3'
(R):5'- CCATGCCACATGAAGCAGTC -3'

Sequencing Primer
(F):5'- TTAAAGTCACGTGAAGCAGAAATTG -3'
(R):5'- GCAGTCTAAATAGGCCCAGTGC -3'

Posted On

2021-07-15