Mutagenetix > Incidental Mutation

Incidental Mutation 'R2139:Dhcr24'

236029

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

040142-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.872) question?

Stock #

R2139 (G1)

Quality Score

119

Status

Not validated

Chromosome

Chromosomal Location

106418279-106446310 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 106429499 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 191 (E191*)

Ref Sequence

ENSEMBL: ENSMUSP00000038063 (fasta)

Gene Model

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

AlphaFold

Q8VCH6

Predicted Effect

probably null
Transcript: ENSMUST00000047973
AA Change: E191*

SMART Domains

Protein: ENSMUSP00000038063
Gene: ENSMUSG00000034926
AA Change: E191*

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	A	T	9: 46,215,593 (GRCm39)	F318I	probably damaging	Het
Bfsp2	T	C	9: 103,327,074 (GRCm39)	K221R	probably benign	Het
Cacna1b	A	C	2: 24,569,485 (GRCm39)	M813R	probably benign	Het
Chaf1a	T	C	17: 56,372,226 (GRCm39)	L798P	probably damaging	Het
Chd8	G	A	14: 52,474,428 (GRCm39)	T201I	probably benign	Het
Col23a1	T	C	11: 51,464,861 (GRCm39)	S436P	probably benign	Het
Cubn	T	C	2: 13,340,978 (GRCm39)	I2248V	probably benign	Het
Cyp4f39	A	G	17: 32,710,163 (GRCm39)	I440M	probably benign	Het
Dlg5	T	C	14: 24,220,612 (GRCm39)	D522G	probably damaging	Het
Dnaja4	A	T	9: 54,616,506 (GRCm39)	M170L	probably benign	Het
Dop1b	T	C	16: 93,567,895 (GRCm39)	S1441P	possibly damaging	Het
Efcab3	C	T	11: 104,642,737 (GRCm39)	T1120I	possibly damaging	Het
Egr2	T	A	10: 67,376,702 (GRCm39)	S383T	probably damaging	Het
Elovl1	A	G	4: 118,288,303 (GRCm39)	D94G	probably damaging	Het
Erbb4	A	G	1: 68,385,788 (GRCm39)	V267A	probably damaging	Het
Esp38	T	A	17: 40,264,275 (GRCm39)	I11N	probably damaging	Het
Esrrb	T	C	12: 86,468,740 (GRCm39)		probably null	Het
Fbxo24	A	T	5: 137,611,327 (GRCm39)	S488T	probably damaging	Het
Fgfr1	T	G	8: 26,060,882 (GRCm39)	V618G	probably damaging	Het
Gak	C	T	5: 108,754,743 (GRCm39)		probably null	Het
Gpr61	A	T	3: 108,058,077 (GRCm39)	C195S	probably damaging	Het
Greb1l	A	C	18: 10,555,011 (GRCm39)	N1686H	probably damaging	Het
Hapln4	T	C	8: 70,540,788 (GRCm39)	F274L	probably benign	Het
Hoxc10	A	T	15: 102,875,912 (GRCm39)	Q207L	probably benign	Het
Hspa12a	A	G	19: 58,787,914 (GRCm39)	V636A	probably benign	Het
Il22ra2	T	A	10: 19,508,618 (GRCm39)	F215L	probably benign	Het
Il36b	A	G	2: 24,044,672 (GRCm39)	N24S	probably benign	Het
Kank1	G	A	19: 25,389,117 (GRCm39)	G930D	probably benign	Het
Kif13a	T	C	13: 46,905,945 (GRCm39)	D666G	possibly damaging	Het
Krt86	A	T	15: 101,371,639 (GRCm39)	I70F	probably benign	Het
Lgi4	A	T	7: 30,762,548 (GRCm39)	I112F	probably damaging	Het
Lrrc8c	T	G	5: 105,754,558 (GRCm39)	I111S	probably damaging	Het
Ltbp2	T	C	12: 84,862,753 (GRCm39)	N600S	probably damaging	Het
Mbd3l2	A	T	9: 18,356,254 (GRCm39)	D193V	probably damaging	Het
Mroh5	T	A	15: 73,661,940 (GRCm39)	D417V	probably damaging	Het
Ms4a18	A	T	19: 10,974,695 (GRCm39)	V332D	possibly damaging	Het
Mtarc1	G	A	1: 184,527,632 (GRCm39)	T276I	probably benign	Het
Muc4	T	A	16: 32,581,599 (GRCm39)	I2488N	unknown	Het
Myrf	C	G	19: 10,193,831 (GRCm39)	A532P	probably damaging	Het
Nav3	T	C	10: 109,688,996 (GRCm39)	N427S	probably benign	Het
Neb	T	C	2: 52,102,600 (GRCm39)	S4315G	probably damaging	Het
Nyap2	A	G	1: 81,218,983 (GRCm39)	D335G	probably damaging	Het
Olfm4	T	C	14: 80,251,755 (GRCm39)	L225P	probably benign	Het
Or10z1	A	T	1: 174,078,302 (GRCm39)		probably null	Het
Or4c104	T	A	2: 88,586,437 (GRCm39)	N194I	probably damaging	Het
Or51ac3	A	T	7: 103,213,961 (GRCm39)	I175K	possibly damaging	Het
Or8s2	T	C	15: 98,276,145 (GRCm39)	N282S	probably damaging	Het
Pcdhac2	T	G	18: 37,279,139 (GRCm39)	Y706*	probably null	Het
Pgbd1	A	G	13: 21,607,190 (GRCm39)	S335P	probably damaging	Het
Pkhd1l1	A	C	15: 44,393,214 (GRCm39)	I1850L	possibly damaging	Het
Pogz	T	C	3: 94,778,318 (GRCm39)	V304A	possibly damaging	Het
Rap1a	T	C	3: 105,646,856 (GRCm39)	I100V	probably damaging	Het
Slc4a4	A	T	5: 89,194,123 (GRCm39)	K201M	probably damaging	Het
Slc6a1	T	C	6: 114,281,022 (GRCm39)	F8S	possibly damaging	Het
St18	T	G	1: 6,880,839 (GRCm39)	M444R	possibly damaging	Het
Syna	G	T	5: 134,588,106 (GRCm39)	S281*	probably null	Het
Tgm1	A	G	14: 55,947,000 (GRCm39)	V336A	probably damaging	Het
Tle6	G	T	10: 81,429,868 (GRCm39)	T400K	probably damaging	Het
Tmem181a	T	C	17: 6,348,481 (GRCm39)	W328R	probably damaging	Het
Trim7	T	C	11: 48,729,721 (GRCm39)	F193L	probably benign	Het
Txndc16	A	T	14: 45,410,046 (GRCm39)	M178K	probably damaging	Het
Unc80	C	T	1: 66,560,740 (GRCm39)	H823Y	possibly damaging	Het
Vmn1r74	A	G	7: 11,581,243 (GRCm39)	Y181C	probably damaging	Het
Vmn2r56	T	A	7: 12,446,890 (GRCm39)	K421*	probably null	Het
Vwa7	T	G	17: 35,242,406 (GRCm39)	S503R	probably benign	Het
Washc5	G	A	15: 59,221,991 (GRCm39)	T135M	probably damaging	Het
Wdr6	T	C	9: 108,451,322 (GRCm39)	I854V	probably benign	Het
Zfp507	A	G	7: 35,493,148 (GRCm39)	C632R	probably damaging	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
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
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'- CTGATGGATGGGGAATGTCC -3'
(R):5'- GAGCTAGTTATCCTTCATCCGG -3'

Sequencing Primer
(F):5'- GGGAATGTCCTATCTTAGCAGCC -3'
(R):5'- CACCGTAATGTGTACAACGTG -3'

Posted On

2014-10-01