Mutagenetix > Incidental Mutation

Incidental Mutation 'R1773:Dhcr7'

196816

Institutional Source

Beutler Lab

Gene Symbol

Dhcr7

Ensembl Gene

ENSMUSG00000058454

Gene Name

7-dehydrocholesterol reductase

Synonyms

MMRRC Submission

039804-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1773 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

143376882-143402147 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 143401195 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 453 (R453C)

Ref Sequence

ENSEMBL: ENSMUSP00000121782 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073878] [ENSMUST00000124340] [ENSMUST00000141916] [ENSMUST00000143338] [ENSMUST00000144034] [ENSMUST00000145471] [ENSMUST00000207143]

AlphaFold

O88455

Predicted Effect

possibly damaging
Transcript: ENSMUST00000073878
AA Change: R453C

PolyPhen 2 Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000073541
Gene: ENSMUSG00000058454
AA Change: R453C

Domain	Start	End	E-Value	Type
Pfam:ERG4_ERG24	36	471	1.5e-94	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000124340
AA Change: R453C

PolyPhen 2 Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000117659
Gene: ENSMUSG00000058454
AA Change: R453C

Domain	Start	End	E-Value	Type
Pfam:ERG4_ERG24	36	471	1.5e-94	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128610

Predicted Effect

possibly damaging
Transcript: ENSMUST00000141916
AA Change: R453C

PolyPhen 2 Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000121782
Gene: ENSMUSG00000058454
AA Change: R453C

Domain	Start	End	E-Value	Type
Pfam:ERG4_ERG24	36	471	1.5e-94	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000143338

SMART Domains

Protein: ENSMUSP00000119984
Gene: ENSMUSG00000058454

Domain	Start	End	E-Value	Type
transmembrane domain	33	55	N/A	INTRINSIC
transmembrane domain	147	169	N/A	INTRINSIC
transmembrane domain	174	196	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000144034

SMART Domains

Protein: ENSMUSP00000118957
Gene: ENSMUSG00000058454

Domain	Start	End	E-Value	Type
transmembrane domain	33	55	N/A	INTRINSIC
Pfam:ERG4_ERG24	75	225	1.3e-35	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000145471

Predicted Effect

possibly damaging
Transcript: ENSMUST00000207143
AA Change: R456C

PolyPhen 2 Score 0.467 (Sensitivity: 0.89; Specificity: 0.90)

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme that removes the C(7-8) double bond in the B ring of sterols and catalyzes the conversion of 7-dehydrocholesterol to cholesterol. This gene is ubiquitously expressed and its transmembrane protein localizes to the endoplasmic reticulum membrane and nuclear outer membrane. Mutations in this gene cause Smith-Lemli-Opitz syndrome (SLOS); a syndrome that is metabolically characterized by reduced serum cholesterol levels and elevated serum 7-dehydrocholesterol levels and phenotypically characterized by mental retardation, facial dysmorphism, syndactyly of second and third toes, and holoprosencephaly in severe cases to minimal physical abnormalities and near-normal intelligence in mild cases. Alternative splicing results in multiple transcript variants that encode the same protein.[provided by RefSeq, Aug 2009]
PHENOTYPE: Mice homozygous for disruptions in this gene die within one day of birth due to respiratory and suckling problems. They exhibit abnormal cholesterol homeostasis with reduced tissue cholesterol levels and total sterol levels, enlarged bladders and sometimes cleft palate. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	A	G	7: 27,280,020 (GRCm39)	K334E	probably damaging	Het
Abca12	A	G	1: 71,327,755 (GRCm39)	Y1442H	probably damaging	Het
Acot12	A	G	13: 91,905,676 (GRCm39)	T79A	probably benign	Het
Adipoq	A	C	16: 22,973,988 (GRCm39)	Q26P	unknown	Het
Afg2a	T	C	3: 37,493,334 (GRCm39)	F515L	probably damaging	Het
Akap13	T	A	7: 75,333,199 (GRCm39)	N1582K	possibly damaging	Het
Alg9	A	G	9: 50,690,396 (GRCm39)	T133A	probably benign	Het
Anks3	T	C	16: 4,765,158 (GRCm39)	T418A	probably benign	Het
Ano3	A	C	2: 110,591,800 (GRCm39)	L37R	probably damaging	Het
Ano9	A	G	7: 140,688,291 (GRCm39)	F178L	possibly damaging	Het
Arhgef12	A	G	9: 42,916,838 (GRCm39)		probably null	Het
Arl16	T	A	11: 120,356,589 (GRCm39)	I137F	possibly damaging	Het
Brpf1	T	A	6: 113,296,892 (GRCm39)	S959T	possibly damaging	Het
Ccdc27	C	T	4: 154,126,222 (GRCm39)	R89Q	unknown	Het
Cd109	A	C	9: 78,611,006 (GRCm39)	Q1207H	probably benign	Het
Cd14	A	T	18: 36,858,357 (GRCm39)	V366D	possibly damaging	Het
Cep290	G	A	10: 100,346,435 (GRCm39)	V538I	probably benign	Het
Cep57	G	A	9: 13,727,364 (GRCm39)	A202V	probably damaging	Het
Chl1	T	C	6: 103,624,292 (GRCm39)		probably null	Het
Cmah	T	G	13: 24,601,282 (GRCm39)	F29L	probably benign	Het
Cracd	G	T	5: 77,015,052 (GRCm39)	A42S	possibly damaging	Het
Crybg1	A	G	10: 43,868,544 (GRCm39)	V1378A	possibly damaging	Het
Cryzl2	A	G	1: 157,298,292 (GRCm39)	K227R	probably benign	Het
D130043K22Rik	T	G	13: 25,066,585 (GRCm39)	V794G	possibly damaging	Het
Ddx4	T	A	13: 112,736,436 (GRCm39)	T645S	probably benign	Het
Dhx8	T	C	11: 101,643,189 (GRCm39)	Y754H	possibly damaging	Het
Dip2b	T	A	15: 100,091,842 (GRCm39)	D860E	probably benign	Het
Dnah7a	T	C	1: 53,472,046 (GRCm39)		probably null	Het
Dst	A	G	1: 34,330,980 (GRCm39)	D6937G	probably damaging	Het
Dusp1	A	G	17: 26,726,081 (GRCm39)	I204T	probably damaging	Het
Dync2h1	T	A	9: 7,128,256 (GRCm39)	Q1859L	probably damaging	Het
E4f1	C	A	17: 24,665,558 (GRCm39)	G328V	probably damaging	Het
Eml5	T	C	12: 98,765,098 (GRCm39)	Y1617C	probably damaging	Het
Espn	G	T	4: 152,212,686 (GRCm39)	P622Q	probably damaging	Het
Fam184b	G	A	5: 45,741,676 (GRCm39)	P185L	possibly damaging	Het
Fn1	T	A	1: 71,676,542 (GRCm39)	D563V	probably damaging	Het
Gad2	A	G	2: 22,580,219 (GRCm39)	Y540C	probably benign	Het
Garin1b	T	C	6: 29,334,152 (GRCm39)	S335P	possibly damaging	Het
Gdf11	T	C	10: 128,727,163 (GRCm39)	D131G	probably damaging	Het
Gm19965	T	A	1: 116,748,989 (GRCm39)	Y223*	probably null	Het
H2-M10.6	A	G	17: 37,123,076 (GRCm39)	K3R	probably benign	Het
Hid1	A	G	11: 115,239,336 (GRCm39)	Y776H	probably damaging	Het
Hivep3	A	T	4: 119,956,034 (GRCm39)	K1450I	probably damaging	Het
Icam5	T	C	9: 20,944,821 (GRCm39)	L128P	possibly damaging	Het
Idnk	T	C	13: 58,305,526 (GRCm39)	V9A	probably damaging	Het
Il4ra	A	T	7: 125,166,354 (GRCm39)	T33S	possibly damaging	Het
Ino80	A	G	2: 119,248,890 (GRCm39)	V990A	probably benign	Het
Krtap4-9	T	C	11: 99,676,396 (GRCm39)		probably benign	Het
Lrrk2	A	G	15: 91,664,184 (GRCm39)	I1974V	possibly damaging	Het
Mcm3ap	C	T	10: 76,306,994 (GRCm39)	A369V	probably benign	Het
Nek6	A	G	2: 38,472,431 (GRCm39)	M252V	probably benign	Het
Nfasc	T	A	1: 132,538,577 (GRCm39)	I443F	probably damaging	Het
Nme8	T	G	13: 19,881,206 (GRCm39)	M1L	probably damaging	Het
Npnt	T	A	3: 132,610,454 (GRCm39)	Q423L	possibly damaging	Het
Nup133	A	T	8: 124,657,722 (GRCm39)	C404*	probably null	Het
Or2b7	T	C	13: 21,739,982 (GRCm39)	D70G	probably damaging	Het
Or4c124	A	G	2: 89,156,086 (GRCm39)	V146A	probably benign	Het
Or4f14b	A	G	2: 111,775,204 (GRCm39)	V199A	possibly damaging	Het
Or56a4	T	C	7: 104,806,190 (GRCm39)	E233G	probably benign	Het
Or5an1c	T	C	19: 12,219,023 (GRCm39)	M1V	probably null	Het
Or6c213	A	G	10: 129,574,312 (GRCm39)	L158S	probably damaging	Het
Otog	T	A	7: 45,937,583 (GRCm39)	I1764N	probably benign	Het
Oxa1l	A	G	14: 54,600,909 (GRCm39)	I127M	probably benign	Het
P4hb	C	A	11: 120,463,552 (GRCm39)	V28F	probably damaging	Het
Pbld2	C	T	10: 62,890,150 (GRCm39)	A186V	probably benign	Het
Pdzph1	G	T	17: 59,281,808 (GRCm39)	T158K	probably damaging	Het
Pgm2	T	A	5: 64,265,194 (GRCm39)		probably null	Het
Phip	A	T	9: 82,758,242 (GRCm39)	S1484T	probably benign	Het
Pikfyve	T	C	1: 65,231,430 (GRCm39)	L100P	probably damaging	Het
Pikfyve	T	C	1: 65,285,529 (GRCm39)	S923P	probably benign	Het
Pla2g4e	A	G	2: 120,075,202 (GRCm39)	S63P	probably benign	Het
Plekhh2	A	G	17: 84,906,693 (GRCm39)	E1176G	probably damaging	Het
Prlr	T	A	15: 10,325,404 (GRCm39)	Y192*	probably null	Het
Pten	T	A	19: 32,775,472 (GRCm39)	C71S	probably damaging	Het
Rbbp8nl	A	G	2: 179,922,987 (GRCm39)	L202P	probably benign	Het
Ripor2	T	A	13: 24,885,237 (GRCm39)	S491T	probably benign	Het
Robo1	A	T	16: 72,801,399 (GRCm39)	I1008F	probably benign	Het
Scg2	T	C	1: 79,413,352 (GRCm39)	N417S	probably benign	Het
Scn8a	A	G	15: 100,937,496 (GRCm39)	I1581V	probably damaging	Het
Slc22a8	T	A	19: 8,571,593 (GRCm39)	I108N	probably damaging	Het
Slc9a8	A	T	2: 167,313,385 (GRCm39)	T416S	possibly damaging	Het
Spata32	T	A	11: 103,099,644 (GRCm39)	E287V	probably damaging	Het
Tgfbrap1	C	T	1: 43,114,512 (GRCm39)	G196D	probably damaging	Het
Tgm5	G	T	2: 120,908,131 (GRCm39)	T15K	possibly damaging	Het
Tmc1	C	T	19: 20,803,865 (GRCm39)		probably null	Het
Tmem177	T	C	1: 119,838,306 (GRCm39)	I124M	possibly damaging	Het
Trim30a	A	G	7: 104,085,108 (GRCm39)	F34S	probably damaging	Het
Tsn	T	C	1: 118,232,969 (GRCm39)	T112A	probably benign	Het
Tspyl5	T	G	15: 33,686,922 (GRCm39)	N341T	probably benign	Het
Vmn2r108	C	T	17: 20,689,335 (GRCm39)	C540Y	probably damaging	Het
Vrtn	C	T	12: 84,696,998 (GRCm39)	R583W	probably damaging	Het
Wnt1	T	C	15: 98,689,638 (GRCm39)	S142P	probably damaging	Het
Wrn	A	T	8: 33,833,589 (GRCm39)	I108N	probably damaging	Het
Zfhx2	A	C	14: 55,310,348 (GRCm39)	C733G	possibly damaging	Het
Zfp219	T	C	14: 52,244,563 (GRCm39)	T539A	probably damaging	Het
Zswim8	T	A	14: 20,761,598 (GRCm39)	M177K	probably damaging	Het

Other mutations in Dhcr7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00505:Dhcr7	APN	7	143,400,805 (GRCm39)	missense	probably damaging	0.99
IGL01398:Dhcr7	APN	7	143,395,056 (GRCm39)	missense	probably damaging	0.99
IGL01668:Dhcr7	APN	7	143,397,048 (GRCm39)	missense	probably damaging	1.00
IGL01822:Dhcr7	APN	7	143,399,236 (GRCm39)	missense	probably damaging	1.00
IGL02332:Dhcr7	APN	7	143,396,865 (GRCm39)	missense	probably damaging	1.00
IGL03136:Dhcr7	APN	7	143,401,103 (GRCm39)	missense	probably damaging	1.00
IGL03334:Dhcr7	APN	7	143,394,234 (GRCm39)	missense	possibly damaging	0.80
R0350:Dhcr7	UTSW	7	143,391,507 (GRCm39)	missense	probably damaging	1.00
R0433:Dhcr7	UTSW	7	143,394,200 (GRCm39)	missense	possibly damaging	0.92
R0834:Dhcr7	UTSW	7	143,394,964 (GRCm39)	missense	probably benign	0.19
R1473:Dhcr7	UTSW	7	143,400,805 (GRCm39)	missense	probably damaging	0.99
R1473:Dhcr7	UTSW	7	143,395,105 (GRCm39)	missense	probably damaging	1.00
R1769:Dhcr7	UTSW	7	143,401,250 (GRCm39)	missense	probably damaging	1.00
R1997:Dhcr7	UTSW	7	143,401,167 (GRCm39)	missense	probably damaging	0.99
R2302:Dhcr7	UTSW	7	143,391,629 (GRCm39)	missense	probably benign	0.00
R4177:Dhcr7	UTSW	7	143,394,910 (GRCm39)	missense	probably damaging	1.00
R4275:Dhcr7	UTSW	7	143,396,964 (GRCm39)	missense	probably damaging	1.00
R4829:Dhcr7	UTSW	7	143,391,654 (GRCm39)	missense	probably damaging	1.00
R4860:Dhcr7	UTSW	7	143,394,237 (GRCm39)	missense	probably benign	0.05
R4860:Dhcr7	UTSW	7	143,394,237 (GRCm39)	missense	probably benign	0.05
R4944:Dhcr7	UTSW	7	143,391,528 (GRCm39)	missense	probably damaging	0.96
R5000:Dhcr7	UTSW	7	143,395,060 (GRCm39)	missense	possibly damaging	0.94
R5454:Dhcr7	UTSW	7	143,391,576 (GRCm39)	missense	probably damaging	1.00
R5633:Dhcr7	UTSW	7	143,401,160 (GRCm39)	missense	probably damaging	0.99
R6337:Dhcr7	UTSW	7	143,390,468 (GRCm39)	critical splice donor site	probably null
R6683:Dhcr7	UTSW	7	143,397,048 (GRCm39)	missense	probably damaging	0.99
R7175:Dhcr7	UTSW	7	143,399,227 (GRCm39)	missense	probably damaging	1.00
R7785:Dhcr7	UTSW	7	143,399,209 (GRCm39)	missense	probably damaging	1.00
R8947:Dhcr7	UTSW	7	143,400,959 (GRCm39)	missense	probably damaging	1.00
R9006:Dhcr7	UTSW	7	143,394,978 (GRCm39)	missense	probably benign
R9052:Dhcr7	UTSW	7	143,395,060 (GRCm39)	missense	possibly damaging	0.79
R9629:Dhcr7	UTSW	7	143,401,212 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CCGCCACTTCAACTATACTGGTGAC -3'
(R):5'- GCCTCTGCTATCAGGATGCTGAAC -3'

Sequencing Primer
(F):5'- CAACTATACTGGTGACCTGATGG -3'
(R):5'- GCtctccattctccagatgag -3'

Posted On

2014-05-23