Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01822:Dhcr7'

154579

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dhcr7

Ensembl Gene

ENSMUSG00000058454

Gene Name

7-dehydrocholesterol reductase

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01822

Quality Score

Status

Chromosome

Chromosomal Location

143376882-143402147 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 143399236 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 296 (I296N)

Ref Sequence

ENSEMBL: ENSMUSP00000146947 (fasta)

Gene Model

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

AlphaFold

O88455

Predicted Effect

probably damaging
Transcript: ENSMUST00000073878
AA Change: I293N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000073541
Gene: ENSMUSG00000058454
AA Change: I293N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000124340
AA Change: I293N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000117659
Gene: ENSMUSG00000058454
AA Change: I293N

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128610

Predicted Effect

probably damaging
Transcript: ENSMUST00000141916
AA Change: I293N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000121782
Gene: ENSMUSG00000058454
AA Change: I293N

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 damaging
Transcript: ENSMUST00000144034
AA Change: I202N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000118957
Gene: ENSMUSG00000058454
AA Change: I202N

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

probably damaging
Transcript: ENSMUST00000207143
AA Change: I296N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208631

Coding Region Coverage

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: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cald1	A	T	6: 34,730,507 (GRCm39)	T269S	probably damaging	Het
Cntnap5c	T	A	17: 58,362,700 (GRCm39)	I351N	probably damaging	Het
Dnah17	A	G	11: 117,972,819 (GRCm39)	F2038S	probably damaging	Het
Dsel	A	G	1: 111,789,626 (GRCm39)	L303P	probably damaging	Het
Fabp12	G	A	3: 10,311,082 (GRCm39)	R127*	probably null	Het
Fgf12	A	T	16: 28,008,351 (GRCm39)	S150T	possibly damaging	Het
Fkbp15	A	G	4: 62,270,741 (GRCm39)	M32T	probably benign	Het
Lrrc66	G	A	5: 73,787,311 (GRCm39)	T13I	probably benign	Het
Mmgt2	T	C	11: 62,555,832 (GRCm39)	V60A	possibly damaging	Het
Neb	G	T	2: 52,148,758 (GRCm39)	S2596R	possibly damaging	Het
Nfkbib	T	C	7: 28,461,134 (GRCm39)	D171G	probably benign	Het
Oas1a	T	C	5: 121,037,277 (GRCm39)	E250G	probably benign	Het
Or2n1	C	A	17: 38,486,339 (GRCm39)	D121E	probably damaging	Het
Or4a27	A	T	2: 88,559,136 (GRCm39)	I269N	probably benign	Het
Rnf182	T	C	13: 43,821,508 (GRCm39)	C20R	probably damaging	Het
Scn3a	T	C	2: 65,325,608 (GRCm39)	K970E	probably damaging	Het
Slc30a2	T	A	4: 134,075,948 (GRCm39)	Y192N	probably damaging	Het
Ttn	C	T	2: 76,616,670 (GRCm39)	E16528K	possibly damaging	Het
Vmn2r100	T	A	17: 19,725,100 (GRCm39)	C10S	probably null	Het
Vmn2r61	A	T	7: 41,950,130 (GRCm39)	H850L	probably benign	Het
Vmn2r87	T	C	10: 130,307,991 (GRCm39)	Y749C	probably damaging	Het
Wnt5b	A	T	6: 119,410,433 (GRCm39)	C336S	probably damaging	Het
Zfp398	G	A	6: 47,843,205 (GRCm39)	R287Q	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
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
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

Posted On

2014-02-04