Incidental Mutation 'IGL00422:Fads3'
| ID |
3245 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fads3
|
| Ensembl Gene |
ENSMUSG00000024664 |
| Gene Name |
fatty acid desaturase 3 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00422
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
10018933-10037474 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 10033045 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Valine
at position 328
(F328V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111659
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115995]
|
| AlphaFold |
Q9JJE7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000115995
AA Change: F328V
PolyPhen 2
Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000111659
Gene: ENSMUSG00000024664
AA Change: F328V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
25 |
N/A |
INTRINSIC |
|
Cyt-b5
|
27 |
101 |
6.21e-16 |
SMART |
|
Pfam:FA_desaturase
|
162 |
423 |
4.1e-35 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the fatty acid desaturase (FADS) gene family. Desaturase enzymes regulate unsaturation of fatty acids through the introduction of double bonds between defined carbons of the fatty acyl chain. FADS family members are considered fusion products composed of an N-terminal cytochrome b5-like domain and a C-terminal multiple membrane-spanning desaturase portion, both of which are characterized by conserved histidine motifs. This gene is clustered with family members FADS1 and FADS2 at 11q12-q13.1; this cluster is thought to have arisen evolutionarily from gene duplication based on its similar exon/intron organization. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous knockout affects highly unsaturated fatty acid levels in the liver and brain. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim1 |
C |
T |
19: 57,056,618 (GRCm39) |
A359T |
probably damaging |
Het |
| Adam34l |
A |
G |
8: 44,079,388 (GRCm39) |
F279L |
probably damaging |
Het |
| Ajuba |
A |
T |
14: 54,809,226 (GRCm39) |
Y400* |
probably null |
Het |
| Cckar |
T |
A |
5: 53,857,171 (GRCm39) |
D342V |
possibly damaging |
Het |
| Cdc123 |
A |
G |
2: 5,803,260 (GRCm39) |
V253A |
probably benign |
Het |
| Cep162 |
T |
C |
9: 87,109,220 (GRCm39) |
D461G |
probably benign |
Het |
| Chd7 |
G |
A |
4: 8,859,106 (GRCm39) |
E2399K |
probably damaging |
Het |
| Cln8 |
G |
A |
8: 14,946,637 (GRCm39) |
C217Y |
probably benign |
Het |
| Dchs1 |
A |
G |
7: 105,407,236 (GRCm39) |
V2119A |
possibly damaging |
Het |
| Dhx33 |
T |
C |
11: 70,892,446 (GRCm39) |
S108G |
probably benign |
Het |
| Dip2a |
T |
A |
10: 76,149,070 (GRCm39) |
M194L |
probably benign |
Het |
| Dnah11 |
T |
C |
12: 118,031,831 (GRCm39) |
K1779R |
probably damaging |
Het |
| Flad1 |
A |
G |
3: 89,313,160 (GRCm39) |
|
probably null |
Het |
| Gm7535 |
G |
T |
17: 18,132,150 (GRCm39) |
|
probably benign |
Het |
| Gnpat |
A |
G |
8: 125,611,752 (GRCm39) |
E513G |
probably damaging |
Het |
| H2-M5 |
A |
G |
17: 37,298,732 (GRCm39) |
I238T |
probably damaging |
Het |
| Hoxd12 |
G |
A |
2: 74,505,771 (GRCm39) |
R114Q |
probably damaging |
Het |
| Ide |
T |
C |
19: 37,253,931 (GRCm39) |
I903V |
unknown |
Het |
| Ifi209 |
T |
G |
1: 173,466,529 (GRCm39) |
D120E |
possibly damaging |
Het |
| Map3k10 |
T |
C |
7: 27,367,894 (GRCm39) |
D248G |
probably damaging |
Het |
| Mat2b |
C |
A |
11: 40,578,565 (GRCm39) |
G41C |
probably damaging |
Het |
| Mfsd4a |
T |
C |
1: 131,968,332 (GRCm39) |
I369V |
probably benign |
Het |
| Myom1 |
T |
A |
17: 71,433,093 (GRCm39) |
V1480E |
probably damaging |
Het |
| Myom2 |
A |
T |
8: 15,119,490 (GRCm39) |
D127V |
probably damaging |
Het |
| Olfml2b |
T |
A |
1: 170,496,635 (GRCm39) |
V422E |
probably damaging |
Het |
| Pkn3 |
G |
A |
2: 29,971,116 (GRCm39) |
A228T |
probably damaging |
Het |
| Rad17 |
A |
T |
13: 100,766,033 (GRCm39) |
I365K |
probably benign |
Het |
| Rad17 |
A |
T |
13: 100,766,031 (GRCm39) |
S366T |
probably damaging |
Het |
| Rpp14 |
G |
A |
14: 8,083,934 (GRCm38) |
G30E |
possibly damaging |
Het |
| Slco1a6 |
A |
C |
6: 142,106,743 (GRCm39) |
C15G |
probably benign |
Het |
| Spag9 |
T |
A |
11: 93,988,692 (GRCm39) |
F571I |
probably benign |
Het |
| Ttc27 |
T |
A |
17: 75,087,811 (GRCm39) |
C459S |
probably damaging |
Het |
| Washc2 |
A |
G |
6: 116,233,637 (GRCm39) |
T888A |
probably benign |
Het |
| Zcchc7 |
A |
T |
4: 44,931,318 (GRCm39) |
H490L |
possibly damaging |
Het |
|
| Other mutations in Fads3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00088:Fads3
|
APN |
19 |
10,029,663 (GRCm39) |
missense |
probably null |
0.98 |
|
IGL01081:Fads3
|
APN |
19 |
10,030,366 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02454:Fads3
|
APN |
19 |
10,032,483 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02477:Fads3
|
APN |
19 |
10,033,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0611:Fads3
|
UTSW |
19 |
10,019,200 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1169:Fads3
|
UTSW |
19 |
10,031,463 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1400:Fads3
|
UTSW |
19 |
10,033,664 (GRCm39) |
splice site |
probably null |
|
|
R1893:Fads3
|
UTSW |
19 |
10,033,868 (GRCm39) |
missense |
probably benign |
|
|
R2508:Fads3
|
UTSW |
19 |
10,033,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3151:Fads3
|
UTSW |
19 |
10,035,262 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4543:Fads3
|
UTSW |
19 |
10,019,175 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R4766:Fads3
|
UTSW |
19 |
10,033,384 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4823:Fads3
|
UTSW |
19 |
10,019,252 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5117:Fads3
|
UTSW |
19 |
10,019,322 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5846:Fads3
|
UTSW |
19 |
10,030,397 (GRCm39) |
missense |
probably null |
1.00 |
|
R6117:Fads3
|
UTSW |
19 |
10,031,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6225:Fads3
|
UTSW |
19 |
10,019,202 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9024:Fads3
|
UTSW |
19 |
10,033,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0027:Fads3
|
UTSW |
19 |
10,031,614 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Fads3
|
UTSW |
19 |
10,019,171 (GRCm39) |
missense |
probably benign |
0.23 |
|
| Posted On |
2012-04-20 |
Incidental Mutation