Incidental Mutation 'R4039:Dhcr24'
| ID |
313834 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dhcr24
|
| Ensembl Gene |
ENSMUSG00000034926 |
| Gene Name |
24-dehydrocholesterol reductase |
| Synonyms |
5830417J06Rik, seladin-1, 2310076D10Rik, 3-beta-hydroxysterol delta-24 reductase |
| MMRRC Submission |
041614-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.872)
|
| Stock # |
R4039 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
106418279-106446310 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 106431075 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 255
(F255L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038063
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047973]
|
| AlphaFold |
Q8VCH6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047973
AA Change: F255L
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000038063
Gene: ENSMUSG00000034926
AA Change: F255L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FAD_binding_4
|
71 |
203 |
2e-16 |
PFAM |
|
| Meta Mutation Damage Score |
0.0650 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
| Validation Efficiency |
98% (48/49) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a flavin adenine dinucleotide (FAD)-dependent oxidoreductase which catalyzes the reduction of the delta-24 double bond of sterol intermediates during cholesterol biosynthesis. The protein contains a leader sequence that directs it to the endoplasmic reticulum membrane. Missense mutations in this gene have been associated with desmosterolosis. Also, reduced expression of the gene occurs in the temporal cortex of Alzheimer disease patients and overexpression has been observed in adrenal gland cancer cells. [provided by RefSeq, Jul 2008]
PHENOTYPE: In spite of having almost no plasma or tissue cholesterol, homozygous mutant mice are largely viable and display a mild growth phenotype. Inactivation did impair prenatal viability as well as infertility. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933412E24Rik |
A |
T |
15: 59,888,215 (GRCm39) |
L75Q |
possibly damaging |
Het |
| Cep290 |
T |
C |
10: 100,348,263 (GRCm39) |
|
probably null |
Het |
| Col11a2 |
A |
G |
17: 34,264,748 (GRCm39) |
T268A |
probably benign |
Het |
| Crnkl1 |
T |
A |
2: 145,774,247 (GRCm39) |
D72V |
possibly damaging |
Het |
| Csn2 |
C |
T |
5: 87,845,935 (GRCm39) |
M1I |
probably null |
Het |
| Epn2 |
A |
G |
11: 61,437,348 (GRCm39) |
Y75H |
probably damaging |
Het |
| Galnt3 |
A |
T |
2: 65,915,671 (GRCm39) |
H563Q |
probably damaging |
Het |
| Galnt9 |
T |
C |
5: 110,762,074 (GRCm39) |
V37A |
probably damaging |
Het |
| Glb1l3 |
A |
C |
9: 26,740,343 (GRCm39) |
M329R |
probably damaging |
Het |
| Gorab |
A |
T |
1: 163,224,635 (GRCm39) |
D55E |
possibly damaging |
Het |
| Herc2 |
G |
A |
7: 55,806,159 (GRCm39) |
R2318Q |
probably damaging |
Het |
| Hspa2 |
T |
C |
12: 76,452,542 (GRCm39) |
V412A |
probably damaging |
Het |
| Hspb8 |
A |
G |
5: 116,547,403 (GRCm39) |
V193A |
probably benign |
Het |
| Ly75 |
A |
G |
2: 60,183,339 (GRCm39) |
L481P |
probably damaging |
Het |
| Lyzl1 |
T |
C |
18: 4,169,140 (GRCm39) |
L48P |
probably damaging |
Het |
| Mettl27 |
C |
T |
5: 134,969,463 (GRCm39) |
Q212* |
probably null |
Het |
| Mmachc |
T |
A |
4: 116,563,215 (GRCm39) |
T47S |
probably damaging |
Het |
| Ncam2 |
C |
T |
16: 81,287,211 (GRCm39) |
S375L |
probably benign |
Het |
| Ogfrl1 |
T |
C |
1: 23,418,045 (GRCm39) |
|
probably benign |
Het |
| Parp9 |
T |
C |
16: 35,780,417 (GRCm39) |
L461P |
probably damaging |
Het |
| Pcsk7 |
A |
G |
9: 45,839,305 (GRCm39) |
|
probably null |
Het |
| Plekhh1 |
C |
A |
12: 79,101,957 (GRCm39) |
H342Q |
probably benign |
Het |
| Prdm13 |
T |
G |
4: 21,685,774 (GRCm39) |
|
probably benign |
Het |
| Prkaa2 |
T |
C |
4: 104,908,444 (GRCm39) |
N144D |
probably damaging |
Het |
| Ptpn12 |
A |
T |
5: 21,207,508 (GRCm39) |
Y283* |
probably null |
Het |
| Rab12 |
T |
C |
17: 66,807,396 (GRCm39) |
Y111C |
possibly damaging |
Het |
| Ralgapa1 |
T |
C |
12: 55,842,486 (GRCm39) |
N61S |
probably damaging |
Het |
| Rims1 |
T |
C |
1: 22,514,793 (GRCm39) |
S537G |
probably damaging |
Het |
| Sash1 |
G |
T |
10: 8,605,391 (GRCm39) |
P1000T |
probably damaging |
Het |
| Skint5 |
G |
T |
4: 113,743,011 (GRCm39) |
T352K |
unknown |
Het |
| Slc12a5 |
A |
G |
2: 164,834,250 (GRCm39) |
E757G |
probably benign |
Het |
| Sycp2 |
C |
A |
2: 178,022,720 (GRCm39) |
M470I |
possibly damaging |
Het |
| Szt2 |
T |
C |
4: 118,222,149 (GRCm39) |
|
probably benign |
Het |
| Tbc1d1 |
A |
G |
5: 64,473,771 (GRCm39) |
T765A |
probably damaging |
Het |
| Tgfbr2 |
T |
C |
9: 116,004,105 (GRCm39) |
M1V |
probably null |
Het |
| Tnfrsf11a |
A |
G |
1: 105,755,464 (GRCm39) |
|
probably null |
Het |
| Trim43b |
A |
G |
9: 88,973,400 (GRCm39) |
L111P |
probably damaging |
Het |
| Ttbk2 |
A |
T |
2: 120,576,276 (GRCm39) |
S900R |
probably benign |
Het |
| Unc79 |
G |
A |
12: 103,041,208 (GRCm39) |
C747Y |
possibly damaging |
Het |
| Vmn1r218 |
T |
C |
13: 23,320,971 (GRCm39) |
V26A |
possibly damaging |
Het |
| Vmn2r115 |
A |
T |
17: 23,564,077 (GRCm39) |
Y83F |
probably benign |
Het |
| Zfp536 |
A |
T |
7: 37,268,975 (GRCm39) |
L147Q |
probably damaging |
Het |
| Zfp931 |
T |
A |
2: 177,709,777 (GRCm39) |
Q203L |
possibly damaging |
Het |
| Zswim2 |
G |
A |
2: 83,746,338 (GRCm39) |
H367Y |
probably damaging |
Het |
|
| Other mutations in Dhcr24 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01305:Dhcr24
|
APN |
4 |
106,429,475 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL01548:Dhcr24
|
APN |
4 |
106,431,068 (GRCm39) |
nonsense |
probably null |
|
|
IGL02110:Dhcr24
|
APN |
4 |
106,430,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02256:Dhcr24
|
APN |
4 |
106,429,517 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02748:Dhcr24
|
APN |
4 |
106,421,589 (GRCm39) |
splice site |
probably benign |
|
|
IGL02926:Dhcr24
|
APN |
4 |
106,443,552 (GRCm39) |
missense |
probably damaging |
0.98 |
|
ANU22:Dhcr24
|
UTSW |
4 |
106,429,475 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R0423:Dhcr24
|
UTSW |
4 |
106,443,733 (GRCm39) |
unclassified |
probably benign |
|
|
R1632:Dhcr24
|
UTSW |
4 |
106,443,148 (GRCm39) |
missense |
probably benign |
|
|
R1771:Dhcr24
|
UTSW |
4 |
106,435,450 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2138:Dhcr24
|
UTSW |
4 |
106,429,499 (GRCm39) |
nonsense |
probably null |
|
|
R2139:Dhcr24
|
UTSW |
4 |
106,429,499 (GRCm39) |
nonsense |
probably null |
|
|
R2420:Dhcr24
|
UTSW |
4 |
106,418,291 (GRCm39) |
start gained |
probably benign |
|
|
R2422:Dhcr24
|
UTSW |
4 |
106,418,291 (GRCm39) |
start gained |
probably benign |
|
|
R2570:Dhcr24
|
UTSW |
4 |
106,443,029 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3176:Dhcr24
|
UTSW |
4 |
106,418,436 (GRCm39) |
missense |
probably benign |
0.16 |
|
R3276:Dhcr24
|
UTSW |
4 |
106,418,436 (GRCm39) |
missense |
probably benign |
0.16 |
|
R3842:Dhcr24
|
UTSW |
4 |
106,443,002 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3852:Dhcr24
|
UTSW |
4 |
106,431,070 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4037:Dhcr24
|
UTSW |
4 |
106,431,075 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4038:Dhcr24
|
UTSW |
4 |
106,431,075 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5831:Dhcr24
|
UTSW |
4 |
106,421,611 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7285:Dhcr24
|
UTSW |
4 |
106,428,716 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7821:Dhcr24
|
UTSW |
4 |
106,428,633 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R8012:Dhcr24
|
UTSW |
4 |
106,443,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8879:Dhcr24
|
UTSW |
4 |
106,431,006 (GRCm39) |
missense |
probably benign |
0.05 |
|
X0057:Dhcr24
|
UTSW |
4 |
106,443,542 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCAAGCTCTCAGCCTATGC -3'
(R):5'- CATTTCTGAGGAAGCCTGTTACC -3'
Sequencing Primer
(F):5'- AAGCTCTCAGCCTATGCCAATTC -3'
(R):5'- TGAGGAAGCCTGTTACCTGCATC -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation