Mutagenetix > Incidental Mutation

Incidental Mutation 'R0834:Dhcr7'

77730

Institutional Source

Beutler Lab

Gene Symbol

Dhcr7

Ensembl Gene

ENSMUSG00000058454

Gene Name

7-dehydrocholesterol reductase

Synonyms

MMRRC Submission

039013-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0834 (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 143394964 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 157 (N157S)

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 benign
Transcript: ENSMUST00000073878
AA Change: N157S

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000073541
Gene: ENSMUSG00000058454
AA Change: N157S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000124340
AA Change: N157S

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000117659
Gene: ENSMUSG00000058454
AA Change: N157S

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: N157S

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000121782
Gene: ENSMUSG00000058454
AA Change: N157S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000143338
AA Change: N157S

PolyPhen 2 Score 0.186 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000119984
Gene: ENSMUSG00000058454
AA Change: N157S

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: N160S

PolyPhen 2 Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

probably benign
Transcript: ENSMUST00000145471

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208631

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

Meta Mutation Damage Score

0.0813

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.7%
20x: 95.7%

Validation Efficiency

100% (86/86)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Add2	A	T	6: 86,063,899 (GRCm39)	E66V	probably damaging	Het
Aldh1a3	T	C	7: 66,062,658 (GRCm39)	I156V	probably benign	Het
Ang4	T	A	14: 52,001,725 (GRCm39)	K74N	probably benign	Het
Arcn1	A	T	9: 44,670,172 (GRCm39)		probably benign	Het
Arhgef33	T	A	17: 80,655,026 (GRCm39)		probably benign	Het
Atn1	A	G	6: 124,720,188 (GRCm39)		probably benign	Het
Bmal2	A	G	6: 146,724,185 (GRCm39)	H359R	probably damaging	Het
Bmerb1	T	C	16: 13,911,795 (GRCm39)	L47P	probably damaging	Het
Brip1	T	C	11: 86,083,653 (GRCm39)	T123A	probably benign	Het
Camkv	A	G	9: 107,823,045 (GRCm39)	Y95C	probably damaging	Het
Cdk12	T	A	11: 98,095,211 (GRCm39)	S340T	probably benign	Het
Ckap2l	G	A	2: 129,138,224 (GRCm39)		probably benign	Het
Clmn	A	T	12: 104,738,085 (GRCm39)	L1042Q	probably damaging	Het
Clmn	G	T	12: 104,738,086 (GRCm39)	L1042M	probably damaging	Het
Cluh	T	C	11: 74,554,631 (GRCm39)	V737A	probably benign	Het
Cpne8	A	G	15: 90,424,462 (GRCm39)	V309A	probably benign	Het
Cpxm2	T	A	7: 131,756,342 (GRCm39)		probably benign	Het
Csmd3	A	T	15: 47,747,073 (GRCm39)		probably benign	Het
Ctr9	T	A	7: 110,650,159 (GRCm39)	S818T	probably benign	Het
Cyp26a1	C	T	19: 37,688,405 (GRCm39)	A309V	probably damaging	Het
Dbndd2	C	T	2: 164,332,122 (GRCm39)	T115I	possibly damaging	Het
Dlx2	C	A	2: 71,375,859 (GRCm39)	V155F	probably damaging	Het
Duox1	A	T	2: 122,176,982 (GRCm39)	I1470F	probably damaging	Het
Esrrb	A	T	12: 86,517,071 (GRCm39)	I68F	probably benign	Het
Fhod3	T	A	18: 25,248,862 (GRCm39)	L1347*	probably null	Het
Fip1l1	T	C	5: 74,755,721 (GRCm39)		probably benign	Het
Frem3	A	G	8: 81,413,637 (GRCm39)	Y1966C	probably damaging	Het
Gatd3a	T	C	10: 77,998,539 (GRCm39)	D229G	probably damaging	Het
Ggt5	C	T	10: 75,440,604 (GRCm39)	R242C	possibly damaging	Het
Gm14496	G	A	2: 181,637,480 (GRCm39)	V185I	probably benign	Het
Gnptab	T	C	10: 88,265,814 (GRCm39)	V409A	probably damaging	Het
Gramd1a	A	G	7: 30,837,589 (GRCm39)	F390S	possibly damaging	Het
Helz2	A	G	2: 180,872,570 (GRCm39)	S2477P	probably damaging	Het
Hsd17b3	T	C	13: 64,236,936 (GRCm39)	K3E	probably benign	Het
Ift172	T	C	5: 31,414,715 (GRCm39)	H1395R	probably benign	Het
Jam2	T	A	16: 84,609,855 (GRCm39)	C180S	probably damaging	Het
Kalrn	A	C	16: 33,870,289 (GRCm39)	S160A	possibly damaging	Het
Kcnk3	T	C	5: 30,779,979 (GRCm39)	I343T	probably damaging	Het
Kif13a	T	C	13: 46,967,712 (GRCm39)	E334G	probably damaging	Het
Klhl41	A	G	2: 69,508,491 (GRCm39)	K482E	possibly damaging	Het
Lig3	A	G	11: 82,689,113 (GRCm39)	E794G	probably damaging	Het
Myh13	T	C	11: 67,240,436 (GRCm39)	M780T	possibly damaging	Het
Ndst2	A	G	14: 20,779,761 (GRCm39)	Y160H	probably damaging	Het
Ndufb10	T	C	17: 24,941,648 (GRCm39)	M90V	probably damaging	Het
Obscn	T	C	11: 59,024,104 (GRCm39)	K522R	probably benign	Het
Olfml2b	T	C	1: 170,475,413 (GRCm39)	S113P	probably benign	Het
Or14a257	T	A	7: 86,138,698 (GRCm39)	E20D	probably benign	Het
Or4a78	A	G	2: 89,497,423 (GRCm39)	I269T	probably benign	Het
Or4d10b	T	A	19: 12,036,979 (GRCm39)	M46L	probably benign	Het
Or51v14	T	C	7: 103,261,444 (GRCm39)	T39A	probably benign	Het
Or6k2	T	A	1: 173,986,930 (GRCm39)	M197K	possibly damaging	Het
Parg	T	C	14: 31,936,511 (GRCm39)		probably benign	Het
Pde7a	C	T	3: 19,284,482 (GRCm39)	C367Y	probably damaging	Het
Pigr	T	A	1: 130,772,281 (GRCm39)	C166*	probably null	Het
Pip4k2c	A	T	10: 127,036,704 (GRCm39)		probably benign	Het
Ppp1r16a	C	T	15: 76,577,869 (GRCm39)	Q328*	probably null	Het
Prkd2	A	T	7: 16,599,602 (GRCm39)		probably benign	Het
Ptprt	G	T	2: 161,654,059 (GRCm39)		probably null	Het
Rapgef5	C	T	12: 117,610,741 (GRCm39)		probably benign	Het
Retreg1	T	C	15: 25,971,756 (GRCm39)	L356P	probably benign	Het
Rigi	T	A	4: 40,239,596 (GRCm39)	E34V	possibly damaging	Het
Rnf43	A	G	11: 87,622,077 (GRCm39)	T393A	probably benign	Het
Samd3	T	C	10: 26,147,725 (GRCm39)	S467P	probably benign	Het
Scarf1	C	A	11: 75,405,229 (GRCm39)	C89*	probably null	Het
Sdk1	T	C	5: 141,227,779 (GRCm39)	L59S	probably benign	Het
Sgca	C	T	11: 94,861,512 (GRCm39)	W244*	probably null	Het
Sh3d21	T	C	4: 126,045,065 (GRCm39)	K538R	probably benign	Het
Smyd4	T	A	11: 75,281,958 (GRCm39)	L477Q	possibly damaging	Het
Sra1	A	G	18: 36,801,829 (GRCm39)	M87T	probably benign	Het
Ssh2	T	C	11: 77,328,459 (GRCm39)	Y336H	possibly damaging	Het
Steap1	T	C	5: 5,790,357 (GRCm39)	Y197C	probably damaging	Het
Strn3	A	G	12: 51,673,879 (GRCm39)		probably benign	Het
Tgm3	A	G	2: 129,868,677 (GRCm39)	T205A	probably benign	Het
Tll2	G	A	19: 41,101,512 (GRCm39)	T374I	probably damaging	Het
Tmem63b	C	A	17: 45,971,870 (GRCm39)	D782Y	possibly damaging	Het
Trim10	G	A	17: 37,183,283 (GRCm39)	S193N	probably benign	Het
Ttf1	A	T	2: 28,963,962 (GRCm39)	K613*	probably null	Het
Tube1	T	A	10: 39,010,168 (GRCm39)		probably null	Het
Uimc1	T	A	13: 55,224,222 (GRCm39)		probably null	Het
Wwp2	G	T	8: 108,283,428 (GRCm39)		probably benign	Het
Zfp101	C	T	17: 33,601,418 (GRCm39)	V113I	probably benign	Het
Zfp292	T	C	4: 34,809,114 (GRCm39)	D1310G	probably benign	Het
Zfp575	A	T	7: 24,285,245 (GRCm39)	L132H	probably damaging	Het
Zmym2	T	C	14: 57,194,420 (GRCm39)	F1226S	probably damaging	Het
Zswim6	A	C	13: 107,862,989 (GRCm39)		noncoding transcript	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
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

Predicted Primers

PCR Primer
(F):5'- GGGTGCTACTAGCCTTTAAGCCTG -3'
(R):5'- GCCCAGATGCTAAGGAACTTACCAG -3'

Sequencing Primer
(F):5'- AATGACCCCTGTCCTTCAGAATG -3'
(R):5'- GCTAAGGAACTTACCAGTCTTCG -3'

Posted On

2013-10-16