Incidental Mutation 'R0023:Fads1'
| ID |
15178 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fads1
|
| Ensembl Gene |
ENSMUSG00000010663 |
| Gene Name |
fatty acid desaturase 1 |
| Synonyms |
A930006B21Rik, 0710001O03Rik |
| MMRRC Submission |
038318-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0023 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
10160252-10174241 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to A
at 10164261 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000010807
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010807]
|
| AlphaFold |
Q920L1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000010807
|
| SMART Domains |
Protein: ENSMUSP00000010807
Gene: ENSMUSG00000010663
| 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: ENSMUST00000184912
|
| Coding Region Coverage |
- 1x: 78.2%
- 3x: 67.5%
- 10x: 40.9%
- 20x: 21.9%
|
| Validation Efficiency |
89% (77/87) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm1 |
A |
C |
4: 144,255,567 (GRCm39) |
D329A |
probably damaging |
Het |
| Abcc12 |
T |
A |
8: 87,264,962 (GRCm39) |
H661L |
probably damaging |
Het |
| Acsbg2 |
C |
G |
17: 57,154,710 (GRCm39) |
A481P |
probably damaging |
Het |
| Aknad1 |
T |
A |
3: 108,688,501 (GRCm39) |
C610S |
probably benign |
Het |
| Anapc1 |
T |
A |
2: 128,520,138 (GRCm39) |
K226N |
probably damaging |
Het |
| Aqp11 |
A |
T |
7: 97,375,896 (GRCm39) |
I251N |
possibly damaging |
Het |
| Arid1a |
G |
T |
4: 133,418,487 (GRCm39) |
T1032K |
unknown |
Het |
| Atg16l1 |
T |
C |
1: 87,717,187 (GRCm39) |
V538A |
probably benign |
Het |
| Atp7b |
A |
T |
8: 22,501,089 (GRCm39) |
L938Q |
probably damaging |
Het |
| Bbs1 |
C |
T |
19: 4,956,042 (GRCm39) |
A44T |
probably damaging |
Het |
| Btbd9 |
A |
T |
17: 30,749,188 (GRCm39) |
V42E |
probably damaging |
Het |
| Carmil3 |
C |
G |
14: 55,730,333 (GRCm39) |
S15R |
probably damaging |
Het |
| Cfap44 |
T |
A |
16: 44,241,583 (GRCm39) |
F651L |
probably benign |
Het |
| Clcn3 |
A |
T |
8: 61,386,104 (GRCm39) |
|
probably benign |
Het |
| Copb1 |
A |
T |
7: 113,849,329 (GRCm39) |
D91E |
probably benign |
Het |
| Ctr9 |
G |
A |
7: 110,643,154 (GRCm39) |
A509T |
possibly damaging |
Het |
| Dst |
C |
T |
1: 34,228,200 (GRCm39) |
P1606L |
probably damaging |
Het |
| Emc1 |
A |
G |
4: 139,098,320 (GRCm39) |
D767G |
probably damaging |
Het |
| Fcgbpl1 |
A |
G |
7: 27,852,837 (GRCm39) |
K1375E |
probably benign |
Het |
| Frrs1 |
T |
C |
3: 116,690,437 (GRCm39) |
F27L |
probably damaging |
Het |
| Itga2 |
G |
A |
13: 115,007,032 (GRCm39) |
S432L |
possibly damaging |
Het |
| Lrig3 |
A |
C |
10: 125,846,088 (GRCm39) |
D839A |
probably damaging |
Het |
| Macf1 |
A |
T |
4: 123,382,107 (GRCm39) |
|
probably benign |
Het |
| Myo6 |
T |
C |
9: 80,190,816 (GRCm39) |
V789A |
possibly damaging |
Het |
| Nasp |
A |
G |
4: 116,462,968 (GRCm39) |
|
probably benign |
Het |
| Nsmaf |
A |
G |
4: 6,408,680 (GRCm39) |
Y700H |
probably damaging |
Het |
| Plekhs1 |
T |
G |
19: 56,466,948 (GRCm39) |
S260A |
probably damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| R3hdm1 |
T |
C |
1: 128,138,929 (GRCm39) |
|
probably benign |
Het |
| Rtcb |
A |
T |
10: 85,785,315 (GRCm39) |
|
probably benign |
Het |
| Suco |
A |
T |
1: 161,673,154 (GRCm39) |
|
probably null |
Het |
| Synrg |
G |
T |
11: 83,899,479 (GRCm39) |
D562Y |
probably damaging |
Het |
| Tfip11 |
T |
C |
5: 112,479,875 (GRCm39) |
S265P |
possibly damaging |
Het |
| Ucp3 |
G |
T |
7: 100,134,250 (GRCm39) |
V288L |
probably benign |
Het |
| Xylt1 |
G |
T |
7: 117,233,928 (GRCm39) |
G485V |
probably damaging |
Het |
| Yars1 |
A |
G |
4: 129,090,981 (GRCm39) |
T130A |
probably benign |
Het |
| Zfp652 |
A |
T |
11: 95,644,295 (GRCm39) |
R205* |
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 |
|
IGL01536:Fads1
|
APN |
19 |
10,171,394 (GRCm39) |
missense |
probably benign |
0.36 |
|
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 |
|
|
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 |
2012-12-12 |
Incidental Mutation