Incidental Mutation 'IGL00800:Scd2'
ID |
13922 |
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 # |
IGL00800
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
44282115-44295303 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 44286569 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 133
(L133P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000026221
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026221]
|
AlphaFold |
P13011 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000026221
AA Change: L133P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000026221 Gene: ENSMUSG00000025203 AA Change: L133P
Domain | Start | End | E-Value | Type |
transmembrane domain
|
70 |
92 |
N/A |
INTRINSIC |
Pfam:FA_desaturase
|
96 |
315 |
4.9e-17 |
PFAM |
|
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: 14 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca14 |
A |
T |
7: 119,854,613 (GRCm39) |
I926L |
probably benign |
Het |
Adam6b |
T |
C |
12: 113,454,062 (GRCm39) |
V293A |
probably benign |
Het |
Adamts14 |
T |
A |
10: 61,041,197 (GRCm39) |
T838S |
probably benign |
Het |
Cdk13 |
A |
G |
13: 17,902,727 (GRCm39) |
V941A |
probably damaging |
Het |
Cep128 |
T |
C |
12: 91,222,438 (GRCm39) |
K762E |
possibly damaging |
Het |
Dysf |
A |
G |
6: 84,126,980 (GRCm39) |
N1366S |
probably damaging |
Het |
Gfra4 |
A |
G |
2: 130,882,203 (GRCm39) |
S268P |
possibly damaging |
Het |
Il7r |
T |
G |
15: 9,525,195 (GRCm39) |
T56P |
probably damaging |
Het |
Ipo13 |
C |
T |
4: 117,769,505 (GRCm39) |
D96N |
probably benign |
Het |
Kl |
G |
A |
5: 150,904,233 (GRCm39) |
W328* |
probably null |
Het |
Krt86 |
C |
T |
15: 101,371,741 (GRCm39) |
H104Y |
probably benign |
Het |
Ranbp2 |
T |
A |
10: 58,326,526 (GRCm39) |
D2732E |
probably benign |
Het |
Rpf2 |
G |
A |
10: 40,115,755 (GRCm39) |
Q75* |
probably null |
Het |
Slc6a6 |
T |
A |
6: 91,718,151 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Scd2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01105:Scd2
|
APN |
19 |
44,286,497 (GRCm39) |
missense |
probably benign |
0.38 |
IGL02201:Scd2
|
APN |
19 |
44,289,779 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
2012-12-06 |