Mutagenetix > Incidental Mutation

Incidental Mutation 'R2302:Dhcr7'

244457

Institutional Source

Beutler Lab

Gene Symbol

Dhcr7

Ensembl Gene

ENSMUSG00000058454

Gene Name

7-dehydrocholesterol reductase

Synonyms

MMRRC Submission

040301-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2302 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

143376882-143402147 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 143391629 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 73 (T73A)

Ref Sequence

ENSEMBL: ENSMUSP00000119984 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073878] [ENSMUST00000124340] [ENSMUST00000125564] [ENSMUST00000128454] [ENSMUST00000141916] [ENSMUST00000143338] [ENSMUST00000144034] [ENSMUST00000207143] [ENSMUST00000145471]

AlphaFold

O88455

Predicted Effect

probably benign
Transcript: ENSMUST00000073878
AA Change: T73A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000073541
Gene: ENSMUSG00000058454
AA Change: T73A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000124340
AA Change: T73A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000117659
Gene: ENSMUSG00000058454
AA Change: T73A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000125564

Predicted Effect

probably benign
Transcript: ENSMUST00000128454

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128610

Predicted Effect

probably benign
Transcript: ENSMUST00000141916
AA Change: T73A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000121782
Gene: ENSMUSG00000058454
AA Change: T73A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000143338
AA Change: T73A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000119984
Gene: ENSMUSG00000058454
AA Change: T73A

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

unknown
Transcript: ENSMUST00000144034
AA Change: T73A

SMART Domains

Protein: ENSMUSP00000118957
Gene: ENSMUSG00000058454
AA Change: T73A

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: ENSMUST00000207143
AA Change: T76A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000145471

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208631

Meta Mutation Damage Score

0.0767

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

97% (30/31)

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agpat2	A	T	2: 26,494,207 (GRCm39)	W6R	possibly damaging	Het
Ahrr	C	A	13: 74,425,780 (GRCm39)	V72F	probably damaging	Het
Ank1	G	A	8: 23,609,415 (GRCm39)	C1369Y	probably damaging	Het
Cdh3	C	A	8: 107,271,701 (GRCm39)	P538Q	probably damaging	Het
Cnn2	C	G	10: 79,827,233 (GRCm39)	R35G	possibly damaging	Het
Csmd3	C	A	15: 48,177,447 (GRCm39)	A364S	probably benign	Het
Gbp9	T	C	5: 105,241,958 (GRCm39)	N200D	possibly damaging	Het
Hyls1	T	C	9: 35,475,365 (GRCm39)	E3G	possibly damaging	Het
Ifngr1	T	C	10: 19,485,393 (GRCm39)	L464P	probably damaging	Het
Kdm1b	TCATTGTCC	TCATTGTCCATTGTCC	13: 47,217,564 (GRCm39)		probably null	Het
Krt1	C	T	15: 101,754,622 (GRCm39)	G543S	unknown	Het
Lhfpl2	T	C	13: 94,311,054 (GRCm39)	V108A	probably benign	Het
Lrrc7	C	G	3: 157,840,881 (GRCm39)	G1386R	probably damaging	Het
Mlc1	A	G	15: 88,849,640 (GRCm39)	V231A	possibly damaging	Het
Mup4	T	A	4: 59,960,702 (GRCm39)		probably null	Het
Myh8	A	T	11: 67,177,065 (GRCm39)	R406W	probably damaging	Het
Poldip3	T	C	15: 83,013,469 (GRCm39)		probably benign	Het
Pomt1	G	A	2: 32,133,671 (GRCm39)	G216S	probably benign	Het
Ppil6	T	A	10: 41,377,795 (GRCm39)	C169S	probably damaging	Het
Prokr2	A	G	2: 132,223,104 (GRCm39)	I146T	probably damaging	Het
Rab3b	T	C	4: 108,786,640 (GRCm39)	V130A	probably damaging	Het
Reck	T	A	4: 43,931,015 (GRCm39)	I672N	probably benign	Het
Scn1a	T	C	2: 66,108,089 (GRCm39)	T1546A	probably damaging	Het
Sftpd	T	A	14: 40,894,399 (GRCm39)	E340V	probably damaging	Het
Slco5a1	C	T	1: 12,949,486 (GRCm39)	G635S	probably damaging	Het
Slfn10-ps	A	T	11: 82,919,756 (GRCm39)		noncoding transcript	Het
Svopl	A	T	6: 38,018,101 (GRCm39)		probably benign	Het
Tbx5	A	G	5: 119,979,924 (GRCm39)	K157E	probably damaging	Het
Ttn	A	T	2: 76,724,696 (GRCm39)	C6333S	probably benign	Het
Zfp609	T	C	9: 65,702,179 (GRCm39)	K158E	possibly damaging	Het
Zscan20	T	C	4: 128,482,057 (GRCm39)	N535S	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
R1773:Dhcr7	UTSW	7	143,401,195 (GRCm39)	missense	possibly damaging	0.87
R1997:Dhcr7	UTSW	7	143,401,167 (GRCm39)	missense	probably damaging	0.99
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'- GAACAGAAGAGGGTCTCTAAGTCC -3'
(R):5'- TGTAACTGCTGCACCCTGAC -3'

Sequencing Primer
(F):5'- CCTGTGGGGCTTGAGAAC -3'
(R):5'- GACTTGAACATCACTCTGGGTCAG -3'

Posted On

2014-10-30