Incidental Mutation 'IGL00915:Scd1'
| ID |
29496 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Scd1
|
| Ensembl Gene |
ENSMUSG00000037071 |
| Gene Name |
stearoyl-Coenzyme A desaturase 1 |
| Synonyms |
SCD, stearoyl-CoA desaturase, Scd-1 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.949)
|
| Stock # |
IGL00915
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
44382889-44396148 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 44388796 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 218
(L218P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036936
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041331]
|
| AlphaFold |
P13516 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041331
AA Change: L218P
PolyPhen 2
Score 0.470 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000036936
Gene: ENSMUSG00000037071
AA Change: L218P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
20 |
N/A |
INTRINSIC |
|
transmembrane domain
|
67 |
89 |
N/A |
INTRINSIC |
|
Pfam:FA_desaturase
|
93 |
313 |
2.4e-17 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme involved in fatty acid biosynthesis, primarily the synthesis of oleic acid. The protein belongs to the fatty acid desaturase family and is an integral membrane protein located in the endoplasmic reticulum. Transcripts of approximately 3.9 and 5.2 kb, differing only by alternative polyadenlyation signals, have been detected. A gene encoding a similar enzyme is located on chromosome 4 and a pseudogene of this gene is located on chromosome 17. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygotes for targeted and spontaneous mutations exhibit alopecia, scaly skin, sebaceous gland hypoplasia, impaired ocular lubrication and synthesis and storage of triglycerides, higher lipid oxidation, reduced growth, and lower fertility in females. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
T |
A |
17: 24,593,220 (GRCm39) |
Y206N |
probably damaging |
Het |
| Aebp2 |
A |
G |
6: 140,587,980 (GRCm39) |
N350S |
probably benign |
Het |
| Cerkl |
A |
G |
2: 79,171,843 (GRCm39) |
S367P |
probably benign |
Het |
| Ddx60 |
T |
G |
8: 62,440,465 (GRCm39) |
V1039G |
possibly damaging |
Het |
| Fstl4 |
A |
T |
11: 53,067,825 (GRCm39) |
M563L |
probably benign |
Het |
| Fzd9 |
C |
T |
5: 135,278,323 (GRCm39) |
V521M |
probably damaging |
Het |
| Gorab |
C |
T |
1: 163,224,426 (GRCm39) |
R125Q |
probably benign |
Het |
| Macc1 |
G |
A |
12: 119,410,749 (GRCm39) |
D506N |
probably benign |
Het |
| Mettl17 |
C |
A |
14: 52,124,746 (GRCm39) |
F119L |
probably benign |
Het |
| Nbas |
C |
A |
12: 13,424,753 (GRCm39) |
C997* |
probably null |
Het |
| Neil1 |
A |
G |
9: 57,051,261 (GRCm39) |
|
probably null |
Het |
| Or2r11 |
A |
G |
6: 42,437,884 (GRCm39) |
I23T |
probably benign |
Het |
| Prune2 |
A |
G |
19: 16,993,617 (GRCm39) |
E185G |
probably damaging |
Het |
| Ralgapa2 |
A |
G |
2: 146,184,442 (GRCm39) |
S1522P |
probably damaging |
Het |
| Setdb1 |
A |
T |
3: 95,254,099 (GRCm39) |
F234L |
probably damaging |
Het |
| Sos1 |
A |
G |
17: 80,741,367 (GRCm39) |
S473P |
probably benign |
Het |
| Spata31d1a |
T |
C |
13: 59,849,999 (GRCm39) |
S710G |
probably benign |
Het |
| Srp72 |
C |
A |
5: 77,126,460 (GRCm39) |
C87* |
probably null |
Het |
| Tas2r126 |
T |
A |
6: 42,412,283 (GRCm39) |
I272K |
possibly damaging |
Het |
| Trim38 |
A |
T |
13: 23,975,015 (GRCm39) |
Y318F |
possibly damaging |
Het |
| Trnt1 |
A |
G |
6: 106,756,387 (GRCm39) |
K433E |
probably benign |
Het |
| Umodl1 |
A |
G |
17: 31,227,724 (GRCm39) |
|
probably benign |
Het |
| Urb1 |
A |
G |
16: 90,575,986 (GRCm39) |
F857L |
possibly damaging |
Het |
| Vps45 |
A |
G |
3: 95,953,662 (GRCm39) |
|
probably null |
Het |
| Zfhx4 |
A |
T |
3: 5,310,583 (GRCm39) |
I989F |
probably damaging |
Het |
|
| Other mutations in Scd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01781:Scd1
|
APN |
19 |
44,388,787 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL02016:Scd1
|
APN |
19 |
44,388,746 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02251:Scd1
|
APN |
19 |
44,386,533 (GRCm39) |
missense |
probably damaging |
1.00 |
|
copycat
|
UTSW |
19 |
44,394,927 (GRCm39) |
missense |
probably benign |
|
|
flake
|
UTSW |
19 |
44,388,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2182:Scd1
|
UTSW |
19 |
44,391,732 (GRCm39) |
missense |
probably benign |
|
|
R4635:Scd1
|
UTSW |
19 |
44,395,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5038:Scd1
|
UTSW |
19 |
44,390,148 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5511:Scd1
|
UTSW |
19 |
44,395,198 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5965:Scd1
|
UTSW |
19 |
44,388,579 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6746:Scd1
|
UTSW |
19 |
44,394,927 (GRCm39) |
missense |
probably benign |
|
|
R7133:Scd1
|
UTSW |
19 |
44,395,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7593:Scd1
|
UTSW |
19 |
44,388,739 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1088:Scd1
|
UTSW |
19 |
44,386,362 (GRCm39) |
missense |
probably benign |
0.28 |
|
Z1176:Scd1
|
UTSW |
19 |
44,391,657 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-04-17 |
Incidental Mutation