Incidental Mutation 'IGL01536:Fads1'
| ID |
89960 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fads1
|
| Ensembl Gene |
ENSMUSG00000010663 |
| Gene Name |
fatty acid desaturase 1 |
| Synonyms |
A930006B21Rik, 0710001O03Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01536
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
10160252-10174241 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 10171394 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 342
(Q342K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000010807
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010807]
|
| AlphaFold |
Q920L1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000010807
AA Change: Q342K
PolyPhen 2
Score 0.356 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000010807
Gene: ENSMUSG00000010663
AA Change: Q342K
| Domain | Start | End | E-Value | Type |
|---|
|
Cyt-b5
|
22 |
97 |
1.32e-19 |
SMART |
|
transmembrane domain
|
134 |
156 |
N/A |
INTRINSIC |
|
Pfam:FA_desaturase
|
158 |
421 |
7.4e-35 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150038
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184912
|
| 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: Mice homozygous for a knock-out allele exhibit arachidonic acid deficiency with premature lethality and altered prostaglandin levels. Heterozygous mice exhibit an intermediate phenotype. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp5f1a |
T |
C |
18: 77,868,012 (GRCm39) |
|
probably benign |
Het |
| Ccnc |
A |
G |
4: 21,732,505 (GRCm39) |
I81V |
probably benign |
Het |
| Cep112 |
A |
G |
11: 108,422,237 (GRCm39) |
D560G |
probably null |
Het |
| Dis3 |
A |
G |
14: 99,316,859 (GRCm39) |
Y826H |
probably damaging |
Het |
| Dtx2 |
A |
G |
5: 136,038,940 (GRCm39) |
|
probably benign |
Het |
| Enpp4 |
T |
C |
17: 44,410,494 (GRCm39) |
K361E |
possibly damaging |
Het |
| Erap1 |
A |
T |
13: 74,810,542 (GRCm39) |
K294* |
probably null |
Het |
| Erbb4 |
T |
A |
1: 68,329,441 (GRCm39) |
Y636F |
probably benign |
Het |
| Fntb |
A |
T |
12: 76,966,904 (GRCm39) |
T447S |
probably benign |
Het |
| Hdac4 |
A |
G |
1: 91,857,868 (GRCm39) |
|
probably benign |
Het |
| Kcnh2 |
A |
G |
5: 24,531,522 (GRCm39) |
I463T |
probably damaging |
Het |
| Kif13a |
G |
T |
13: 46,905,765 (GRCm39) |
T726K |
probably damaging |
Het |
| Lcmt1 |
T |
C |
7: 123,021,966 (GRCm39) |
S275P |
possibly damaging |
Het |
| Lmnb1 |
T |
C |
18: 56,873,868 (GRCm39) |
S425P |
probably benign |
Het |
| Lrp1b |
T |
C |
2: 41,000,895 (GRCm39) |
I2224V |
probably benign |
Het |
| Lrrc45 |
A |
T |
11: 120,606,410 (GRCm39) |
T173S |
probably benign |
Het |
| Muc4 |
T |
C |
16: 32,584,340 (GRCm39) |
Y2590H |
possibly damaging |
Het |
| Myo18a |
C |
T |
11: 77,711,677 (GRCm39) |
P676L |
probably damaging |
Het |
| Or5m10 |
T |
C |
2: 85,717,944 (GRCm39) |
S267P |
probably damaging |
Het |
| Pcdhb15 |
T |
C |
18: 37,608,046 (GRCm39) |
M426T |
probably benign |
Het |
| Pik3cd |
A |
G |
4: 149,737,123 (GRCm39) |
V891A |
probably damaging |
Het |
| Polr1b |
A |
G |
2: 128,967,475 (GRCm39) |
N956S |
probably benign |
Het |
| Ppil3 |
T |
C |
1: 58,483,750 (GRCm39) |
M1V |
probably null |
Het |
| Rad1 |
T |
A |
15: 10,493,286 (GRCm39) |
S238T |
possibly damaging |
Het |
| Shc3 |
A |
C |
13: 51,670,595 (GRCm39) |
S51A |
probably damaging |
Het |
| Slc9c1 |
T |
C |
16: 45,409,992 (GRCm39) |
|
probably null |
Het |
| Smg5 |
A |
G |
3: 88,256,552 (GRCm39) |
K273E |
possibly damaging |
Het |
| Sntg1 |
C |
T |
1: 8,653,424 (GRCm39) |
|
probably null |
Het |
| Sstr4 |
T |
C |
2: 148,237,800 (GRCm39) |
L137P |
probably damaging |
Het |
| Taar8b |
C |
T |
10: 23,967,493 (GRCm39) |
V234I |
probably benign |
Het |
| Tbc1d9 |
A |
G |
8: 83,987,621 (GRCm39) |
Y860C |
probably damaging |
Het |
| Tll1 |
A |
T |
8: 64,527,323 (GRCm39) |
S399R |
probably damaging |
Het |
| Tns1 |
T |
C |
1: 73,958,807 (GRCm39) |
|
probably benign |
Het |
| Trim10 |
T |
A |
17: 37,188,180 (GRCm39) |
|
probably null |
Het |
| Ttn |
C |
T |
2: 76,562,695 (GRCm39) |
|
probably null |
Het |
| Usp43 |
T |
C |
11: 67,746,764 (GRCm39) |
D981G |
probably benign |
Het |
| Vmn2r108 |
A |
T |
17: 20,683,543 (GRCm39) |
C554S |
probably damaging |
Het |
| Vmn2r112 |
T |
A |
17: 22,824,136 (GRCm39) |
Y464N |
probably damaging |
Het |
| Vmn2r31 |
T |
C |
7: 7,387,847 (GRCm39) |
K575E |
probably damaging |
Het |
| Vmn2r50 |
C |
T |
7: 9,771,610 (GRCm39) |
C697Y |
probably damaging |
Het |
| Zcchc8 |
A |
C |
5: 123,858,782 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Fads1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01512:Fads1
|
APN |
19 |
10,160,506 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02642:Fads1
|
APN |
19 |
10,163,785 (GRCm39) |
missense |
probably damaging |
1.00 |
|
big_belt
|
UTSW |
19 |
10,170,325 (GRCm39) |
nonsense |
probably null |
|
|
teewinot
|
UTSW |
19 |
10,163,091 (GRCm39) |
nonsense |
probably null |
|
|
R0023:Fads1
|
UTSW |
19 |
10,164,261 (GRCm39) |
splice site |
probably benign |
|
|
R0023:Fads1
|
UTSW |
19 |
10,164,261 (GRCm39) |
splice site |
probably benign |
|
|
R0367:Fads1
|
UTSW |
19 |
10,160,429 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0464:Fads1
|
UTSW |
19 |
10,160,429 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0465:Fads1
|
UTSW |
19 |
10,160,429 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0534:Fads1
|
UTSW |
19 |
10,160,429 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0848:Fads1
|
UTSW |
19 |
10,160,429 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1456:Fads1
|
UTSW |
19 |
10,163,116 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1697:Fads1
|
UTSW |
19 |
10,171,464 (GRCm39) |
splice site |
probably benign |
|
|
R5576:Fads1
|
UTSW |
19 |
10,163,238 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5640:Fads1
|
UTSW |
19 |
10,163,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6243:Fads1
|
UTSW |
19 |
10,163,091 (GRCm39) |
nonsense |
probably null |
|
|
R6379:Fads1
|
UTSW |
19 |
10,160,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7593:Fads1
|
UTSW |
19 |
10,162,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7845:Fads1
|
UTSW |
19 |
10,171,405 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8787:Fads1
|
UTSW |
19 |
10,170,325 (GRCm39) |
nonsense |
probably null |
|
|
R8856:Fads1
|
UTSW |
19 |
10,170,276 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9090:Fads1
|
UTSW |
19 |
10,163,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9271:Fads1
|
UTSW |
19 |
10,163,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Fads1
|
UTSW |
19 |
10,171,068 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-12-03 |
Incidental Mutation