Mutagenetix > Incidental Mutation

Incidental Mutation 'R5000:Dhcr7'

389828

Institutional Source

Beutler Lab

Gene Symbol

Dhcr7

Ensembl Gene

ENSMUSG00000058454

Gene Name

7-dehydrocholesterol reductase

Synonyms

MMRRC Submission

042594-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5000 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

143376882-143402147 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 143395060 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 189 (T189M)

Ref Sequence

ENSEMBL: ENSMUSP00000121782 (fasta)

Gene Model

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

AlphaFold

O88455

Predicted Effect

possibly damaging
Transcript: ENSMUST00000073878
AA Change: T189M

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000073541
Gene: ENSMUSG00000058454
AA Change: T189M

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000124340
AA Change: T189M

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000117659
Gene: ENSMUSG00000058454
AA Change: T189M

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

possibly damaging
Transcript: ENSMUST00000141916
AA Change: T189M

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000121782
Gene: ENSMUSG00000058454
AA Change: T189M

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000143338
AA Change: T189M

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000119984
Gene: ENSMUSG00000058454
AA Change: T189M

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: T192M

PolyPhen 2 Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)

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

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.4%

Validation Efficiency

98% (97/99)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	T	A	7: 27,255,946 (GRCm39)	F11Y	probably benign	Het
Abca5	A	G	11: 110,201,050 (GRCm39)	L450P	probably damaging	Het
Abi1	T	A	2: 22,840,211 (GRCm39)	R357W	probably damaging	Het
Acot7	G	A	4: 152,270,820 (GRCm39)	G55R	probably benign	Het
Aicda	G	A	6: 122,538,826 (GRCm39)	V14I	probably damaging	Het
Anxa4	G	T	6: 86,742,766 (GRCm39)		probably benign	Het
Apobr	T	A	7: 126,185,729 (GRCm39)	D413E	possibly damaging	Het
Ash1l	T	C	3: 88,965,941 (GRCm39)	Y2448H	probably damaging	Het
Atf7ip	A	G	6: 136,559,426 (GRCm39)	E749G	probably damaging	Het
Atp8b3	A	T	10: 80,357,676 (GRCm39)	N1114K	possibly damaging	Het
Bdnf	C	A	2: 109,553,993 (GRCm39)	N122K	probably benign	Het
Boc	A	T	16: 44,310,517 (GRCm39)	I801N	probably damaging	Het
Brap	A	T	5: 121,800,089 (GRCm39)	K37*	probably null	Het
Ccar1	C	T	10: 62,586,784 (GRCm39)	E885K	unknown	Het
Ccdc103	A	G	11: 102,774,932 (GRCm39)	N177S	probably benign	Het
Ccdc116	G	A	16: 16,959,657 (GRCm39)	P344L	possibly damaging	Het
Cdca5	T	C	19: 6,135,463 (GRCm39)	S28P	possibly damaging	Het
Ceacam20	T	C	7: 19,699,453 (GRCm39)	I14T	probably damaging	Het
Chrnb1	A	T	11: 69,677,858 (GRCm39)	V298E	probably damaging	Het
Cnksr3	G	A	10: 7,076,746 (GRCm39)	Q149*	probably null	Het
Csnk1a1	T	C	18: 61,711,840 (GRCm39)	F97L	probably damaging	Het
Dag1	A	T	9: 108,085,216 (GRCm39)	S642T	probably benign	Het
Dedd2	A	G	7: 24,903,068 (GRCm39)	V297A	possibly damaging	Het
Dlgap1	T	C	17: 71,073,053 (GRCm39)	S691P	probably damaging	Het
Dmgdh	A	C	13: 93,825,046 (GRCm39)	H123P	probably damaging	Het
Dnah6	C	T	6: 73,121,798 (GRCm39)	V1395I	probably benign	Het
Dnah7a	T	C	1: 53,606,201 (GRCm39)	Y1273C	probably damaging	Het
Dnah7b	T	A	1: 46,138,663 (GRCm39)	L235*	probably null	Het
Elac2	T	C	11: 64,876,379 (GRCm39)	F3L	probably benign	Het
Elovl7	A	T	13: 108,410,915 (GRCm39)	K163N	probably benign	Het
Epg5	T	C	18: 77,997,376 (GRCm39)	V413A	probably benign	Het
Espl1	T	A	15: 102,206,986 (GRCm39)	L150Q	probably damaging	Het
F2rl3	T	A	8: 73,489,307 (GRCm39)	L178Q	probably damaging	Het
Fam120a	T	C	13: 49,051,143 (GRCm39)	E754G	probably damaging	Het
Fam53b	T	C	7: 132,317,730 (GRCm39)	N304S	probably benign	Het
Fbxo41	T	C	6: 85,460,901 (GRCm39)	E269G	probably damaging	Het
Fcrla	T	C	1: 170,749,959 (GRCm39)	T4A	probably benign	Het
Frmpd1	A	T	4: 45,261,931 (GRCm39)		probably null	Het
Gm9376	A	G	14: 118,504,702 (GRCm39)	M45V	probably benign	Het
Gpr68	G	A	12: 100,844,596 (GRCm39)	A316V	probably benign	Het
Hmgcl	G	A	4: 135,689,511 (GRCm39)	C323Y	probably benign	Het
Hnrnpu	T	C	1: 178,156,941 (GRCm39)		probably benign	Het
Ier2	T	A	8: 85,389,353 (GRCm39)	I10F	probably damaging	Het
Ip6k1	C	T	9: 107,922,798 (GRCm39)	Q234*	probably null	Het
Llgl2	T	C	11: 115,735,728 (GRCm39)	V108A	probably benign	Het
Lrfn3	T	C	7: 30,059,805 (GRCm39)	N140S	possibly damaging	Het
Lrig1	T	A	6: 94,588,430 (GRCm39)	H573L	probably damaging	Het
Lrrk2	T	A	15: 91,634,081 (GRCm39)	W1393R	probably damaging	Het
Mrc1	T	A	2: 14,249,000 (GRCm39)	Y179N	probably damaging	Het
Mtfr1	C	T	3: 19,265,743 (GRCm39)	L93F	probably damaging	Het
Muc19	T	C	15: 91,757,429 (GRCm39)		noncoding transcript	Het
Ndst2	C	T	14: 20,774,975 (GRCm39)		probably null	Het
Nmd3	A	T	3: 69,624,735 (GRCm39)		probably benign	Het
Nsd3	A	G	8: 26,172,593 (GRCm39)	Y784C	probably damaging	Het
Or4a27	A	T	2: 88,559,910 (GRCm39)	I11N	probably damaging	Het
Or7a36	G	A	10: 78,820,514 (GRCm39)	V297I	probably benign	Het
Papln	A	G	12: 83,821,663 (GRCm39)	Y297C	probably damaging	Het
Pdhx	T	C	2: 102,871,385 (GRCm39)		probably null	Het
Pdpk1	T	C	17: 24,330,019 (GRCm39)	T6A	possibly damaging	Het
Prcp	T	C	7: 92,568,368 (GRCm39)	W267R	probably damaging	Het
Prg2	T	C	2: 84,812,367 (GRCm39)	S26P	probably benign	Het
Psg26	A	T	7: 18,214,057 (GRCm39)	Y202N	possibly damaging	Het
Psrc1	T	C	3: 108,287,839 (GRCm39)		probably benign	Het
Rap1gds1	A	T	3: 138,662,011 (GRCm39)	M366K	probably damaging	Het
Robo4	G	T	9: 37,319,664 (GRCm39)	R527L	probably benign	Het
Sel1l3	G	A	5: 53,357,776 (GRCm39)	T72M	probably damaging	Het
Selenoo	G	A	15: 88,978,387 (GRCm39)	R270H	probably damaging	Het
Sema3d	A	G	5: 12,498,005 (GRCm39)	T4A	probably benign	Het
Shroom1	A	T	11: 53,357,944 (GRCm39)		probably benign	Het
Slc25a19	T	C	11: 115,507,497 (GRCm39)		probably null	Het
Snx29	A	C	16: 11,221,371 (GRCm39)	I266L	probably damaging	Het
Spo11	T	C	2: 172,831,193 (GRCm39)	S255P	probably damaging	Het
Spock3	T	C	8: 63,698,158 (GRCm39)	V167A	possibly damaging	Het
Tmc7	A	G	7: 118,158,077 (GRCm39)		probably null	Het
Tmtc4	A	G	14: 123,170,743 (GRCm39)	V509A	possibly damaging	Het
Trim24	A	G	6: 37,935,547 (GRCm39)	D880G	probably benign	Het
Ube2j2	G	A	4: 156,030,841 (GRCm39)	M1I	probably null	Het
Ubr4	T	A	4: 139,163,480 (GRCm39)	C2627S	probably damaging	Het
Unc5d	A	T	8: 29,205,775 (GRCm39)	M512K	possibly damaging	Het
Usp18	A	G	6: 121,229,479 (GRCm39)	R33G	possibly damaging	Het
Utp23	T	A	15: 51,745,569 (GRCm39)	V23D	probably damaging	Het
Wdr17	T	A	8: 55,118,161 (GRCm39)	M512L	possibly damaging	Het
Wdr64	T	A	1: 175,553,941 (GRCm39)		probably null	Het
Zbtb6	T	C	2: 37,319,251 (GRCm39)	T226A	probably benign	Het
Zc3hc1	T	A	6: 30,375,987 (GRCm39)	H191L	possibly damaging	Het
Zdhhc4	C	A	5: 143,310,688 (GRCm39)	C48F	probably damaging	Het
Zfp335	T	A	2: 164,736,588 (GRCm39)	T1016S	probably benign	Het
Zfp583	A	G	7: 6,328,473 (GRCm39)	Y39H	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
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
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'- GGTGATCCAACCAGAGTTCTC -3'
(R):5'- TACCGCTAGCAGTTCTTCAAGC -3'

Sequencing Primer
(F):5'- AACCAGAGTTCTCTGTCTGATTG -3'
(R):5'- TTCTTCAAGCAAGAAAATCCAGG -3'

Posted On

2016-06-06