Mutagenetix > Incidental Mutations

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

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1773 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

143823145-143848410 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 143847458 bp

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]

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: 27,580,595	K334E	probably damaging	Het
Abca12	A	G	1: 71,288,596	Y1442H	probably damaging	Het
Acot12	A	G	13: 91,757,557	T79A	probably benign	Het
Adipoq	A	C	16: 23,155,238	Q26P	unknown	Het
Akap13	T	A	7: 75,683,451	N1582K	possibly damaging	Het
Alg9	A	G	9: 50,779,096	T133A	probably benign	Het
Anks3	T	C	16: 4,947,294	T418A	probably benign	Het
Ano3	A	C	2: 110,761,455	L37R	probably damaging	Het
Ano9	A	G	7: 141,108,378	F178L	possibly damaging	Het
Arhgef12	A	G	9: 43,005,542		probably null	Het
Arl16	T	A	11: 120,465,763	I137F	possibly damaging	Het
Brpf1	T	A	6: 113,319,931	S959T	possibly damaging	Het
C530008M17Rik	G	T	5: 76,867,205	A42S	possibly damaging	Het
Ccdc27	C	T	4: 154,041,765	R89Q	unknown	Het
Cd109	A	C	9: 78,703,724	Q1207H	probably benign	Het
Cd14	A	T	18: 36,725,304	V366D	possibly damaging	Het
Cep290	G	A	10: 100,510,573	V538I	probably benign	Het
Cep57	G	A	9: 13,816,068	A202V	probably damaging	Het
Chl1	T	C	6: 103,647,331		probably null	Het
Cmah	T	G	13: 24,417,299	F29L	probably benign	Het
Crybg1	A	G	10: 43,992,548	V1378A	possibly damaging	Het
Cryzl2	A	G	1: 157,470,722	K227R	probably benign	Het
D130043K22Rik	T	G	13: 24,882,602	V794G	possibly damaging	Het
Ddx4	T	A	13: 112,599,902	T645S	probably benign	Het
Dhx8	T	C	11: 101,752,363	Y754H	possibly damaging	Het
Dip2b	T	A	15: 100,193,961	D860E	probably benign	Het
Dnah7a	T	C	1: 53,432,887		probably null	Het
Dst	A	G	1: 34,291,899	D6937G	probably damaging	Het
Dusp1	A	G	17: 26,507,107	I204T	probably damaging	Het
Dync2h1	T	A	9: 7,128,256	Q1859L	probably damaging	Het
E4f1	C	A	17: 24,446,584	G328V	probably damaging	Het
Eml5	T	C	12: 98,798,839	Y1617C	probably damaging	Het
Espn	G	T	4: 152,128,229	P622Q	probably damaging	Het
Fam184b	G	A	5: 45,584,334	P185L	possibly damaging	Het
Fam71f1	T	C	6: 29,334,153	S335P	possibly damaging	Het
Fn1	T	A	1: 71,637,383	D563V	probably damaging	Het
Gad2	A	G	2: 22,690,207	Y540C	probably benign	Het
Gdf11	T	C	10: 128,891,294	D131G	probably damaging	Het
Gm19965	T	A	1: 116,821,259	Y223*	probably null	Het
H2-M10.6	A	G	17: 36,812,184	K3R	probably benign	Het
Hid1	A	G	11: 115,348,510	Y776H	probably damaging	Het
Hivep3	A	T	4: 120,098,837	K1450I	probably damaging	Het
Icam5	T	C	9: 21,033,525	L128P	possibly damaging	Het
Idnk	T	C	13: 58,157,712	V9A	probably damaging	Het
Il4ra	A	T	7: 125,567,182	T33S	possibly damaging	Het
Ino80	A	G	2: 119,418,409	V990A	probably benign	Het
Krtap4-9	T	C	11: 99,785,570		probably benign	Het
Lrrk2	A	G	15: 91,779,981	I1974V	possibly damaging	Het
Mcm3ap	C	T	10: 76,471,160	A369V	probably benign	Het
Nek6	A	G	2: 38,582,419	M252V	probably benign	Het
Nfasc	T	A	1: 132,610,839	I443F	probably damaging	Het
Nme8	T	G	13: 19,697,036	M1L	probably damaging	Het
Npnt	T	A	3: 132,904,693	Q423L	possibly damaging	Het
Nup133	A	T	8: 123,930,983	C404*	probably null	Het
Olfr1232	A	G	2: 89,325,742	V146A	probably benign	Het
Olfr1307	A	G	2: 111,944,859	V199A	possibly damaging	Het
Olfr1535	T	C	13: 21,555,812	D70G	probably damaging	Het
Olfr262	T	C	19: 12,241,659	M1V	probably null	Het
Olfr684	T	C	7: 105,156,983	E233G	probably benign	Het
Olfr806	A	G	10: 129,738,443	L158S	probably damaging	Het
Otog	T	A	7: 46,288,159	I1764N	probably benign	Het
Oxa1l	A	G	14: 54,363,452	I127M	probably benign	Het
P4hb	C	A	11: 120,572,726	V28F	probably damaging	Het
Pbld2	C	T	10: 63,054,371	A186V	probably benign	Het
Pdzph1	G	T	17: 58,974,813	T158K	probably damaging	Het
Pgm1	T	A	5: 64,107,851		probably null	Het
Phip	A	T	9: 82,876,189	S1484T	probably benign	Het
Pikfyve	T	C	1: 65,192,271	L100P	probably damaging	Het
Pikfyve	T	C	1: 65,246,370	S923P	probably benign	Het
Pla2g4e	A	G	2: 120,244,721	S63P	probably benign	Het
Plekhh2	A	G	17: 84,599,265	E1176G	probably damaging	Het
Prlr	T	A	15: 10,325,318	Y192*	probably null	Het
Pten	T	A	19: 32,798,072	C71S	probably damaging	Het
Rbbp8nl	A	G	2: 180,281,194	L202P	probably benign	Het
Ripor2	T	A	13: 24,701,254	S491T	probably benign	Het
Robo1	A	T	16: 73,004,511	I1008F	probably benign	Het
Scg2	T	C	1: 79,435,635	N417S	probably benign	Het
Scn8a	A	G	15: 101,039,615	I1581V	probably damaging	Het
Slc22a8	T	A	19: 8,594,229	I108N	probably damaging	Het
Slc9a8	A	T	2: 167,471,465	T416S	possibly damaging	Het
Spata32	T	A	11: 103,208,818	E287V	probably damaging	Het
Spata5	T	C	3: 37,439,185	F515L	probably damaging	Het
Tgfbrap1	C	T	1: 43,075,352	G196D	probably damaging	Het
Tgm5	G	T	2: 121,077,650	T15K	possibly damaging	Het
Tmc1	C	T	19: 20,826,501		probably null	Het
Tmem177	T	C	1: 119,910,576	I124M	possibly damaging	Het
Trim30a	A	G	7: 104,435,901	F34S	probably damaging	Het
Tsn	T	C	1: 118,305,239	T112A	probably benign	Het
Tspyl5	T	G	15: 33,686,776	N341T	probably benign	Het
Vmn2r108	C	T	17: 20,469,073	C540Y	probably damaging	Het
Vrtn	C	T	12: 84,650,224	R583W	probably damaging	Het
Wnt1	T	C	15: 98,791,757	S142P	probably damaging	Het
Wrn	A	T	8: 33,343,561	I108N	probably damaging	Het
Zfhx2	A	C	14: 55,072,891	C733G	possibly damaging	Het
Zfp219	T	C	14: 52,007,106	T539A	probably damaging	Het
Zswim8	T	A	14: 20,711,530	M177K	probably damaging	Het

Other mutations in Dhcr7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00505:Dhcr7	APN	7	143847068	missense	probably damaging	0.99
IGL01398:Dhcr7	APN	7	143841319	missense	probably damaging	0.99
IGL01668:Dhcr7	APN	7	143843311	missense	probably damaging	1.00
IGL01822:Dhcr7	APN	7	143845499	missense	probably damaging	1.00
IGL02332:Dhcr7	APN	7	143843128	missense	probably damaging	1.00
IGL03136:Dhcr7	APN	7	143847366	missense	probably damaging	1.00
IGL03334:Dhcr7	APN	7	143840497	missense	possibly damaging	0.80
R0350:Dhcr7	UTSW	7	143837770	missense	probably damaging	1.00
R0433:Dhcr7	UTSW	7	143840463	missense	possibly damaging	0.92
R0834:Dhcr7	UTSW	7	143841227	missense	probably benign	0.19
R1473:Dhcr7	UTSW	7	143841368	missense	probably damaging	1.00
R1473:Dhcr7	UTSW	7	143847068	missense	probably damaging	0.99
R1769:Dhcr7	UTSW	7	143847513	missense	probably damaging	1.00
R1997:Dhcr7	UTSW	7	143847430	missense	probably damaging	0.99
R2302:Dhcr7	UTSW	7	143837892	missense	probably benign	0.00
R4177:Dhcr7	UTSW	7	143841173	missense	probably damaging	1.00
R4275:Dhcr7	UTSW	7	143843227	missense	probably damaging	1.00
R4829:Dhcr7	UTSW	7	143837917	missense	probably damaging	1.00
R4860:Dhcr7	UTSW	7	143840500	missense	probably benign	0.05
R4860:Dhcr7	UTSW	7	143840500	missense	probably benign	0.05
R4944:Dhcr7	UTSW	7	143837791	missense	probably damaging	0.96
R5000:Dhcr7	UTSW	7	143841323	missense	possibly damaging	0.94
R5454:Dhcr7	UTSW	7	143837839	missense	probably damaging	1.00
R5633:Dhcr7	UTSW	7	143847423	missense	probably damaging	0.99
R6337:Dhcr7	UTSW	7	143836731	critical splice donor site	probably null
R6683:Dhcr7	UTSW	7	143843311	missense	probably damaging	0.99
R7175:Dhcr7	UTSW	7	143845490	missense	probably damaging	1.00
R7785:Dhcr7	UTSW	7	143845472	missense	probably damaging	1.00

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