Incidental Mutation 'IGL02201:Scd2'
| ID |
284193 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Scd2
|
| Ensembl Gene |
ENSMUSG00000025203 |
| Gene Name |
stearoyl-Coenzyme A desaturase 2 |
| Synonyms |
Scd-2 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02201
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
44282115-44295303 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 44289779 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 258
(N258S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026221
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026221]
|
| AlphaFold |
P13011 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026221
AA Change: N258S
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000026221
Gene: ENSMUSG00000025203
AA Change: N258S
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
70 |
92 |
N/A |
INTRINSIC |
|
Pfam:FA_desaturase
|
96 |
315 |
4.9e-17 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175574
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous null mice display neonatal lethality with variable penetrance depending on stain background, impaired skin barrier function, abnormal epidermal morphology, and abnormal lipid homeostasis in the skin and liver. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl3 |
G |
A |
1: 78,676,870 (GRCm39) |
G484R |
probably damaging |
Het |
| Adgrb3 |
A |
G |
1: 25,459,631 (GRCm39) |
|
probably benign |
Het |
| Akr1c14 |
A |
G |
13: 4,131,022 (GRCm39) |
D238G |
probably damaging |
Het |
| Ccdc88b |
T |
A |
19: 6,823,999 (GRCm39) |
D1418V |
probably damaging |
Het |
| Cnnm4 |
A |
T |
1: 36,511,831 (GRCm39) |
K353M |
probably damaging |
Het |
| Col6a6 |
A |
G |
9: 105,658,194 (GRCm39) |
F673L |
probably damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Dyrk1a |
A |
G |
16: 94,493,008 (GRCm39) |
E747G |
probably benign |
Het |
| Eml5 |
T |
A |
12: 98,760,683 (GRCm39) |
|
probably benign |
Het |
| Ercc6l2 |
A |
G |
13: 64,000,783 (GRCm39) |
N516D |
probably benign |
Het |
| Fbxl17 |
A |
G |
17: 63,806,024 (GRCm39) |
L330P |
probably damaging |
Het |
| Fgr |
A |
T |
4: 132,722,235 (GRCm39) |
Y168F |
probably damaging |
Het |
| Frem2 |
T |
G |
3: 53,427,061 (GRCm39) |
K2962N |
probably benign |
Het |
| Hdac4 |
G |
T |
1: 91,915,382 (GRCm39) |
|
probably null |
Het |
| Il1r1 |
A |
T |
1: 40,352,428 (GRCm39) |
N533Y |
probably damaging |
Het |
| Kcnab2 |
T |
C |
4: 152,486,375 (GRCm39) |
|
probably benign |
Het |
| Knl1 |
C |
T |
2: 118,899,633 (GRCm39) |
P445S |
probably benign |
Het |
| Lamb2 |
G |
A |
9: 108,364,741 (GRCm39) |
C1165Y |
probably damaging |
Het |
| Nisch |
C |
T |
14: 30,909,051 (GRCm39) |
|
probably benign |
Het |
| Or1i2 |
C |
T |
10: 78,448,104 (GRCm39) |
V124M |
probably damaging |
Het |
| Or2m12 |
A |
T |
16: 19,105,212 (GRCm39) |
S94T |
probably benign |
Het |
| Or8b40 |
A |
G |
9: 38,027,893 (GRCm39) |
D267G |
probably benign |
Het |
| Or8h7 |
A |
G |
2: 86,721,420 (GRCm39) |
L33P |
probably damaging |
Het |
| Pde3b |
T |
A |
7: 114,133,843 (GRCm39) |
M953K |
probably damaging |
Het |
| Pdzph1 |
A |
G |
17: 59,274,506 (GRCm39) |
|
probably benign |
Het |
| Plce1 |
T |
C |
19: 38,757,890 (GRCm39) |
|
probably benign |
Het |
| Prr23a3 |
G |
T |
9: 98,747,297 (GRCm39) |
V84L |
possibly damaging |
Het |
| Psg26 |
A |
G |
7: 18,214,071 (GRCm39) |
V197A |
probably benign |
Het |
| Ptpra |
T |
A |
2: 30,336,389 (GRCm39) |
C80S |
possibly damaging |
Het |
| Ripk4 |
A |
T |
16: 97,556,377 (GRCm39) |
V122E |
possibly damaging |
Het |
| Slc38a1 |
A |
T |
15: 96,476,679 (GRCm39) |
V394E |
probably damaging |
Het |
| Slc7a15 |
A |
G |
12: 8,589,023 (GRCm39) |
S175P |
possibly damaging |
Het |
| Tacc2 |
T |
A |
7: 130,227,942 (GRCm39) |
D1542E |
possibly damaging |
Het |
| Trim67 |
G |
T |
8: 125,520,797 (GRCm39) |
R53L |
probably benign |
Het |
| Urah |
A |
T |
7: 140,415,576 (GRCm39) |
T38S |
probably damaging |
Het |
| Vps13c |
A |
G |
9: 67,874,418 (GRCm39) |
S3362G |
probably damaging |
Het |
| Wwc1 |
T |
C |
11: 35,734,978 (GRCm39) |
|
probably benign |
Het |
| Zfyve28 |
T |
C |
5: 34,400,549 (GRCm39) |
T50A |
probably damaging |
Het |
|
| Other mutations in Scd2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00800:Scd2
|
APN |
19 |
44,286,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01105:Scd2
|
APN |
19 |
44,286,497 (GRCm39) |
missense |
probably benign |
0.38 |
|
IGL02680:Scd2
|
APN |
19 |
44,289,685 (GRCm39) |
missense |
probably benign |
0.00 |
|
unkinked
|
UTSW |
19 |
44,288,198 (GRCm39) |
nonsense |
probably null |
|
|
R0012:Scd2
|
UTSW |
19 |
44,289,685 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0366:Scd2
|
UTSW |
19 |
44,289,685 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0368:Scd2
|
UTSW |
19 |
44,289,685 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0373:Scd2
|
UTSW |
19 |
44,291,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1282:Scd2
|
UTSW |
19 |
44,283,620 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1581:Scd2
|
UTSW |
19 |
44,286,538 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2008:Scd2
|
UTSW |
19 |
44,291,610 (GRCm39) |
missense |
probably benign |
0.23 |
|
R2329:Scd2
|
UTSW |
19 |
44,286,492 (GRCm39) |
nonsense |
probably null |
|
|
R4755:Scd2
|
UTSW |
19 |
44,289,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4812:Scd2
|
UTSW |
19 |
44,289,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5024:Scd2
|
UTSW |
19 |
44,289,710 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5568:Scd2
|
UTSW |
19 |
44,288,142 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5702:Scd2
|
UTSW |
19 |
44,286,502 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R6248:Scd2
|
UTSW |
19 |
44,291,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6377:Scd2
|
UTSW |
19 |
44,288,198 (GRCm39) |
nonsense |
probably null |
|
|
R8422:Scd2
|
UTSW |
19 |
44,289,743 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8424:Scd2
|
UTSW |
19 |
44,289,743 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8735:Scd2
|
UTSW |
19 |
44,289,743 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9597:Scd2
|
UTSW |
19 |
44,288,246 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation