Incidental Mutation 'R7785:Dhcr7'
| ID |
599499 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dhcr7
|
| Ensembl Gene |
ENSMUSG00000058454 |
| Gene Name |
7-dehydrocholesterol reductase |
| Synonyms |
|
| MMRRC Submission |
045841-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7785 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
143376882-143402147 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 143399209 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 193
(E193G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118957
(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: E284G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000073541
Gene: ENSMUSG00000058454
AA Change: E284G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ERG4_ERG24
|
36 |
471 |
1.5e-94 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000124340
AA Change: E284G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117659
Gene: ENSMUSG00000058454
AA Change: E284G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ERG4_ERG24
|
36 |
471 |
1.5e-94 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000141916
AA Change: E284G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000121782
Gene: ENSMUSG00000058454
AA Change: E284G
| 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: E193G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118957
Gene: ENSMUSG00000058454
AA Change: E193G
| 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: E287G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
91% (40/44) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610021A01Rik |
T |
A |
7: 41,262,617 (GRCm39) |
F70L |
probably benign |
Het |
| Abca8a |
T |
C |
11: 109,965,032 (GRCm39) |
|
probably null |
Het |
| Adamts5 |
T |
C |
16: 85,659,892 (GRCm39) |
D800G |
probably damaging |
Het |
| Afm |
T |
C |
5: 90,698,032 (GRCm39) |
V478A |
possibly damaging |
Het |
| Akap7 |
T |
A |
10: 25,096,559 (GRCm39) |
K233M |
probably damaging |
Het |
| Apbb1 |
T |
C |
7: 105,216,630 (GRCm39) |
N61S |
probably benign |
Het |
| Atp8b1 |
A |
T |
18: 64,689,921 (GRCm39) |
S604T |
probably damaging |
Het |
| Bcl2l14 |
G |
T |
6: 134,409,223 (GRCm39) |
V266F |
possibly damaging |
Het |
| Btnl2 |
T |
A |
17: 34,580,137 (GRCm39) |
H223Q |
probably benign |
Het |
| Cap2 |
A |
G |
13: 46,789,224 (GRCm39) |
E255G |
probably benign |
Het |
| Chd6 |
A |
T |
2: 160,812,095 (GRCm39) |
F1366Y |
possibly damaging |
Het |
| Cryl1 |
A |
T |
14: 57,512,938 (GRCm39) |
S310T |
probably benign |
Het |
| Cyp2c69 |
A |
G |
19: 39,839,610 (GRCm39) |
C338R |
probably damaging |
Het |
| Dclre1c |
C |
T |
2: 3,425,273 (GRCm39) |
Q7* |
probably null |
Het |
| Dnaaf10 |
T |
A |
11: 17,179,785 (GRCm39) |
V262E |
probably damaging |
Het |
| Dnmt1 |
T |
C |
9: 20,833,345 (GRCm39) |
K652E |
probably damaging |
Het |
| Emilin3 |
A |
T |
2: 160,752,694 (GRCm39) |
C85* |
probably null |
Het |
| Erp44 |
G |
A |
4: 48,243,531 (GRCm39) |
P26S |
probably benign |
Het |
| Fxr1 |
A |
G |
3: 34,100,403 (GRCm39) |
I121V |
|
Het |
| Gm40460 |
GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG |
GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG |
7: 141,794,171 (GRCm39) |
|
probably benign |
Het |
| Gpc5 |
A |
G |
14: 115,654,632 (GRCm39) |
N484S |
probably benign |
Het |
| Grm8 |
A |
G |
6: 27,618,636 (GRCm39) |
V402A |
probably damaging |
Het |
| Gstcd |
C |
T |
3: 132,787,868 (GRCm39) |
V277M |
probably damaging |
Het |
| Iqgap1 |
A |
G |
7: 80,387,917 (GRCm39) |
L910P |
probably damaging |
Het |
| Klra2 |
A |
T |
6: 131,222,253 (GRCm39) |
F13I |
possibly damaging |
Het |
| Lmtk2 |
T |
C |
5: 144,111,571 (GRCm39) |
S764P |
probably benign |
Het |
| Ndufs1 |
T |
C |
1: 63,186,558 (GRCm39) |
D637G |
probably damaging |
Het |
| Nnmt |
G |
A |
9: 48,503,309 (GRCm39) |
S239F |
probably benign |
Het |
| Pdcd11 |
A |
G |
19: 47,093,125 (GRCm39) |
I468V |
probably benign |
Het |
| Pkhd1l1 |
T |
C |
15: 44,406,965 (GRCm39) |
W2401R |
probably damaging |
Het |
| Plec |
C |
A |
15: 76,090,029 (GRCm39) |
V104F |
unknown |
Het |
| Polq |
A |
G |
16: 36,848,239 (GRCm39) |
Y282C |
probably damaging |
Het |
| Ppp1r37 |
A |
T |
7: 19,265,996 (GRCm39) |
V590E |
probably damaging |
Het |
| Prr27 |
T |
C |
5: 87,991,131 (GRCm39) |
S248P |
probably benign |
Het |
| Ros1 |
T |
C |
10: 52,038,944 (GRCm39) |
E351G |
probably damaging |
Het |
| Scn11a |
T |
C |
9: 119,645,622 (GRCm39) |
I111V |
probably benign |
Het |
| Slc35a1 |
A |
G |
4: 34,675,148 (GRCm39) |
L130S |
probably damaging |
Het |
| Slc39a12 |
T |
C |
2: 14,425,029 (GRCm39) |
L420P |
probably damaging |
Het |
| Sp140 |
T |
A |
1: 85,547,819 (GRCm39) |
I182K |
probably benign |
Het |
| Spata31f3 |
TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG |
TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG |
4: 42,871,823 (GRCm39) |
|
probably benign |
Het |
| Trpv3 |
C |
A |
11: 73,168,558 (GRCm39) |
H42N |
probably benign |
Het |
| Zan |
A |
G |
5: 137,427,405 (GRCm39) |
S2411P |
unknown |
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 |
|
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 |
|
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'- TCCACATCTAATGTCACCTGTGG -3'
(R):5'- GCCTGAAGCACCTGAAGACTAC -3'
Sequencing Primer
(F):5'- CTAATGTCACCTGTGGGAACTATG -3'
(R):5'- TGAAGACTACACAGCCAATGC -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation