Incidental Mutation 'IGL03371:Slc27a1'
ID |
420306 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Slc27a1
|
Ensembl Gene |
ENSMUSG00000031808 |
Gene Name |
solute carrier family 27 (fatty acid transporter), member 1 |
Synonyms |
FATP1, Fatp |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.101)
|
Stock # |
IGL03371
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
72021526-72039946 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 72038052 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 567
(S567P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148768
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034267]
[ENSMUST00000212889]
|
AlphaFold |
Q60714 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034267
AA Change: S567P
PolyPhen 2
Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000034267 Gene: ENSMUSG00000031808 AA Change: S567P
Domain | Start | End | E-Value | Type |
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
low complexity region
|
58 |
73 |
N/A |
INTRINSIC |
Pfam:AMP-binding
|
82 |
515 |
2.1e-71 |
PFAM |
Pfam:AMP-binding_C
|
523 |
598 |
2.9e-9 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211811
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211886
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212211
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212889
AA Change: S567P
PolyPhen 2
Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Homozygous null mutants are protected from fat-induced insulin resistance and intramuscular accumulation of fatty acid metabolites without alterations in whole body adiposity. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agk |
C |
T |
6: 40,371,576 (GRCm39) |
R358C |
probably benign |
Het |
Ahnak |
G |
T |
19: 8,981,592 (GRCm39) |
V959F |
possibly damaging |
Het |
Aoc1 |
C |
T |
6: 48,883,380 (GRCm39) |
R419C |
probably benign |
Het |
Brf2 |
T |
C |
8: 27,615,872 (GRCm39) |
D171G |
probably benign |
Het |
Cnot1 |
T |
C |
8: 96,501,344 (GRCm39) |
I75V |
possibly damaging |
Het |
D430041D05Rik |
A |
G |
2: 104,078,719 (GRCm39) |
V1199A |
probably damaging |
Het |
Dpp9 |
G |
A |
17: 56,494,377 (GRCm39) |
H861Y |
probably benign |
Het |
Eddm3b |
G |
A |
14: 51,354,422 (GRCm39) |
D137N |
probably damaging |
Het |
Erich3 |
A |
T |
3: 154,433,114 (GRCm39) |
I363F |
probably damaging |
Het |
F13b |
T |
A |
1: 139,434,674 (GRCm39) |
C147S |
probably damaging |
Het |
Fam186b |
T |
C |
15: 99,178,258 (GRCm39) |
E356G |
probably benign |
Het |
Fat2 |
T |
A |
11: 55,201,990 (GRCm39) |
R361S |
probably benign |
Het |
Fat4 |
A |
T |
3: 39,037,336 (GRCm39) |
I3663F |
possibly damaging |
Het |
Haus3 |
C |
A |
5: 34,323,687 (GRCm39) |
E308* |
probably null |
Het |
Ifna11 |
A |
G |
4: 88,738,412 (GRCm39) |
K73E |
probably benign |
Het |
Itga10 |
A |
G |
3: 96,562,104 (GRCm39) |
K664E |
possibly damaging |
Het |
L3mbtl4 |
G |
A |
17: 68,768,563 (GRCm39) |
V224M |
probably damaging |
Het |
Mcf2l |
C |
A |
8: 13,051,298 (GRCm39) |
A378D |
probably damaging |
Het |
Mixl1 |
T |
C |
1: 180,522,191 (GRCm39) |
N230S |
probably benign |
Het |
Ncbp1 |
T |
A |
4: 46,171,991 (GRCm39) |
C786* |
probably null |
Het |
Nup153 |
C |
T |
13: 46,836,628 (GRCm39) |
S1327N |
probably benign |
Het |
Or4c12b |
A |
T |
2: 89,647,509 (GRCm39) |
T280S |
possibly damaging |
Het |
Or8k18 |
A |
T |
2: 86,085,935 (GRCm39) |
I34N |
possibly damaging |
Het |
Osr2 |
C |
A |
15: 35,301,000 (GRCm39) |
Y185* |
probably null |
Het |
Ppp1r3b |
T |
C |
8: 35,851,403 (GRCm39) |
F81L |
possibly damaging |
Het |
Ppp3r2 |
T |
A |
4: 49,681,630 (GRCm39) |
I107F |
probably damaging |
Het |
Rin2 |
G |
A |
2: 145,727,846 (GRCm39) |
|
probably benign |
Het |
Rpap1 |
A |
T |
2: 119,605,538 (GRCm39) |
|
probably benign |
Het |
Slc12a4 |
A |
G |
8: 106,677,137 (GRCm39) |
Y466H |
probably null |
Het |
Slc25a40 |
C |
T |
5: 8,477,442 (GRCm39) |
P9L |
probably benign |
Het |
Sox8 |
G |
A |
17: 25,786,414 (GRCm39) |
R430C |
probably damaging |
Het |
Tacc2 |
T |
C |
7: 130,227,791 (GRCm39) |
V1492A |
possibly damaging |
Het |
Taf5l |
A |
G |
8: 124,724,725 (GRCm39) |
S365P |
possibly damaging |
Het |
Tet2 |
T |
A |
3: 133,173,312 (GRCm39) |
H1650L |
possibly damaging |
Het |
Tmem117 |
G |
A |
15: 94,909,274 (GRCm39) |
R229H |
probably damaging |
Het |
Ttc17 |
A |
G |
2: 94,216,450 (GRCm39) |
L79P |
probably damaging |
Het |
Usp54 |
A |
T |
14: 20,639,436 (GRCm39) |
|
probably benign |
Het |
Zfp455 |
T |
A |
13: 67,355,066 (GRCm39) |
C111* |
probably null |
Het |
Zmym4 |
A |
C |
4: 126,808,881 (GRCm39) |
C389G |
possibly damaging |
Het |
|
Other mutations in Slc27a1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00158:Slc27a1
|
APN |
8 |
72,037,416 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02974:Slc27a1
|
APN |
8 |
72,036,847 (GRCm39) |
missense |
probably damaging |
0.99 |
R0178:Slc27a1
|
UTSW |
8 |
72,037,106 (GRCm39) |
missense |
possibly damaging |
0.91 |
R0508:Slc27a1
|
UTSW |
8 |
72,032,872 (GRCm39) |
unclassified |
probably benign |
|
R0600:Slc27a1
|
UTSW |
8 |
72,036,808 (GRCm39) |
missense |
probably damaging |
1.00 |
R1169:Slc27a1
|
UTSW |
8 |
72,033,297 (GRCm39) |
missense |
probably benign |
0.01 |
R1445:Slc27a1
|
UTSW |
8 |
72,036,757 (GRCm39) |
splice site |
probably null |
|
R1708:Slc27a1
|
UTSW |
8 |
72,037,274 (GRCm39) |
splice site |
probably null |
|
R1737:Slc27a1
|
UTSW |
8 |
72,023,504 (GRCm39) |
missense |
probably benign |
0.05 |
R1850:Slc27a1
|
UTSW |
8 |
72,033,347 (GRCm39) |
critical splice donor site |
probably null |
|
R2419:Slc27a1
|
UTSW |
8 |
72,032,560 (GRCm39) |
missense |
possibly damaging |
0.81 |
R3817:Slc27a1
|
UTSW |
8 |
72,037,122 (GRCm39) |
missense |
probably damaging |
1.00 |
R3967:Slc27a1
|
UTSW |
8 |
72,032,431 (GRCm39) |
missense |
probably damaging |
1.00 |
R4243:Slc27a1
|
UTSW |
8 |
72,037,617 (GRCm39) |
missense |
probably benign |
0.00 |
R4244:Slc27a1
|
UTSW |
8 |
72,037,617 (GRCm39) |
missense |
probably benign |
0.00 |
R4552:Slc27a1
|
UTSW |
8 |
72,032,710 (GRCm39) |
splice site |
probably null |
|
R4649:Slc27a1
|
UTSW |
8 |
72,023,408 (GRCm39) |
missense |
probably benign |
0.11 |
R4748:Slc27a1
|
UTSW |
8 |
72,033,453 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4748:Slc27a1
|
UTSW |
8 |
72,033,319 (GRCm39) |
missense |
probably damaging |
0.97 |
R5273:Slc27a1
|
UTSW |
8 |
72,036,900 (GRCm39) |
missense |
probably benign |
0.07 |
R5913:Slc27a1
|
UTSW |
8 |
72,036,907 (GRCm39) |
missense |
probably benign |
0.31 |
R6958:Slc27a1
|
UTSW |
8 |
72,038,083 (GRCm39) |
missense |
possibly damaging |
0.49 |
R7198:Slc27a1
|
UTSW |
8 |
72,032,071 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7212:Slc27a1
|
UTSW |
8 |
72,037,092 (GRCm39) |
missense |
probably damaging |
1.00 |
R8210:Slc27a1
|
UTSW |
8 |
72,032,566 (GRCm39) |
missense |
probably benign |
0.01 |
R8822:Slc27a1
|
UTSW |
8 |
72,033,308 (GRCm39) |
missense |
probably damaging |
1.00 |
R9451:Slc27a1
|
UTSW |
8 |
72,032,808 (GRCm39) |
nonsense |
probably null |
|
|
Posted On |
2016-08-02 |