Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01398:Dhcr7'

79526

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 #

IGL01398

Quality Score

Status

Chromosome

Chromosomal Location

143376882-143402147 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 143395056 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 188 (S188P)

Ref Sequence

ENSEMBL: ENSMUSP00000119984 (fasta)

Gene Model

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

AlphaFold

O88455

Predicted Effect

probably damaging
Transcript: ENSMUST00000073878
AA Change: S188P

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000073541
Gene: ENSMUSG00000058454
AA Change: S188P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000124340
AA Change: S188P

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000117659
Gene: ENSMUSG00000058454
AA Change: S188P

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 damaging
Transcript: ENSMUST00000141916
AA Change: S188P

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000121782
Gene: ENSMUSG00000058454
AA Change: S188P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000143338
AA Change: S188P

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000119984
Gene: ENSMUSG00000058454
AA Change: S188P

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: ENSMUST00000207143
AA Change: S191P

PolyPhen 2 Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208631

Predicted Effect

probably benign
Transcript: ENSMUST00000145471

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

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap1	T	C	11: 69,772,548 (GRCm39)	D521G	probably damaging	Het
Apol11b	G	A	15: 77,522,219 (GRCm39)	T26M	probably damaging	Het
Best2	T	A	8: 85,735,956 (GRCm39)	Y326F	probably damaging	Het
Clca3a1	T	C	3: 144,722,512 (GRCm39)	T287A	possibly damaging	Het
Cyp26a1	C	T	19: 37,686,395 (GRCm39)	T13I	probably damaging	Het
Eml3	T	G	19: 8,911,598 (GRCm39)		probably benign	Het
Faf1	A	T	4: 109,593,793 (GRCm39)	I124F	probably damaging	Het
Fkbp9	T	A	6: 56,837,790 (GRCm39)		probably benign	Het
Foxq1	G	A	13: 31,743,434 (GRCm39)	D179N	probably damaging	Het
Frem1	C	T	4: 82,868,599 (GRCm39)	V1443M	possibly damaging	Het
Gpnmb	T	A	6: 49,027,365 (GRCm39)	M363K	probably benign	Het
Grm3	T	C	5: 9,535,762 (GRCm39)		probably benign	Het
Ints3	A	G	3: 90,300,130 (GRCm39)	L929P	probably damaging	Het
Myh11	T	A	16: 14,019,964 (GRCm39)	I1823F	probably damaging	Het
Nudt9	T	C	5: 104,212,979 (GRCm39)	*351Q	probably null	Het
Or2ak6	A	T	11: 58,592,593 (GRCm39)	H22L	probably benign	Het
Or4c107	C	T	2: 88,789,193 (GRCm39)	P128S	probably damaging	Het
Or8k38	A	T	2: 86,488,032 (GRCm39)	F257I	probably damaging	Het
Pgr15l	C	T	X: 96,121,785 (GRCm39)	T392I	probably benign	Het
Sdk1	C	A	5: 141,923,332 (GRCm39)	L318I	probably benign	Het
Sult1c2	C	A	17: 54,269,180 (GRCm39)	V279L	possibly damaging	Het
Tek	T	C	4: 94,738,014 (GRCm39)	I688T	probably damaging	Het
Telo2	A	T	17: 25,324,748 (GRCm39)	D477E	probably benign	Het
Ubr3	T	A	2: 69,789,997 (GRCm39)	Y884N	probably damaging	Het
Upf3a	C	A	8: 13,836,221 (GRCm39)	H92Q	probably damaging	Het
Vmn2r51	C	T	7: 9,836,341 (GRCm39)	E147K	probably benign	Het
Vps54	A	G	11: 21,245,403 (GRCm39)		probably benign	Het
Zdhhc14	T	C	17: 5,762,738 (GRCm39)	I214T	possibly 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
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
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

2013-11-05