Incidental Mutation 'R4244:Slc27a1'
ID |
320344 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc27a1
|
Ensembl Gene |
ENSMUSG00000031808 |
Gene Name |
solute carrier family 27 (fatty acid transporter), member 1 |
Synonyms |
FATP1, Fatp |
MMRRC Submission |
041060-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.101)
|
Stock # |
R4244 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
72021526-72039946 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 72037617 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 535
(T535A)
|
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: T535A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000034267 Gene: ENSMUSG00000031808 AA Change: T535A
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: T535A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
Meta Mutation Damage Score |
0.0654 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
98% (47/48) |
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actr1b |
T |
C |
1: 36,740,911 (GRCm39) |
Y171C |
possibly damaging |
Het |
Ap1g1 |
G |
A |
8: 110,560,122 (GRCm39) |
S281N |
probably benign |
Het |
Arfgef3 |
C |
A |
10: 18,506,168 (GRCm39) |
G878V |
probably damaging |
Het |
Ccdc137 |
T |
C |
11: 120,352,844 (GRCm39) |
F196S |
probably damaging |
Het |
Ccdc18 |
C |
T |
5: 108,296,838 (GRCm39) |
Q214* |
probably null |
Het |
Ccrl2 |
T |
C |
9: 110,884,422 (GRCm39) |
I359V |
probably benign |
Het |
Cdh20 |
C |
T |
1: 104,869,868 (GRCm39) |
T196I |
probably damaging |
Het |
Cfap20dc |
T |
C |
14: 8,482,521 (GRCm38) |
T551A |
probably benign |
Het |
Col6a3 |
G |
T |
1: 90,714,361 (GRCm39) |
T1683K |
unknown |
Het |
Copa |
A |
G |
1: 171,938,285 (GRCm39) |
I524V |
probably benign |
Het |
Cyld |
A |
T |
8: 89,457,383 (GRCm39) |
R536* |
probably null |
Het |
Dock10 |
T |
A |
1: 80,544,472 (GRCm39) |
E905V |
probably benign |
Het |
Dock5 |
A |
G |
14: 68,012,031 (GRCm39) |
F1348L |
probably benign |
Het |
Efcab3 |
A |
T |
11: 105,002,629 (GRCm39) |
K5664I |
probably damaging |
Het |
Gm5174 |
C |
A |
10: 86,492,144 (GRCm39) |
|
noncoding transcript |
Het |
Gm9892 |
A |
T |
8: 52,649,435 (GRCm39) |
|
noncoding transcript |
Het |
Grm4 |
A |
G |
17: 27,721,709 (GRCm39) |
I144T |
probably damaging |
Het |
Kcnv1 |
G |
A |
15: 44,977,840 (GRCm39) |
T66M |
probably damaging |
Het |
Krt28 |
G |
T |
11: 99,265,376 (GRCm39) |
S97Y |
probably damaging |
Het |
Map3k6 |
T |
C |
4: 132,979,258 (GRCm39) |
Y1204H |
possibly damaging |
Het |
Mfsd2b |
G |
T |
12: 4,924,356 (GRCm39) |
|
probably benign |
Het |
Nav3 |
T |
C |
10: 109,605,157 (GRCm39) |
D972G |
probably damaging |
Het |
Or2ak6 |
T |
G |
11: 58,593,277 (GRCm39) |
L250R |
probably damaging |
Het |
Or2y3 |
C |
T |
17: 38,393,321 (GRCm39) |
V183I |
probably benign |
Het |
Or5d39 |
T |
C |
2: 87,979,632 (GRCm39) |
T244A |
probably benign |
Het |
Prex1 |
G |
A |
2: 166,412,256 (GRCm39) |
R392W |
probably damaging |
Het |
Ptpn5 |
C |
T |
7: 46,741,296 (GRCm39) |
W38* |
probably null |
Het |
Rab3gap1 |
T |
C |
1: 127,865,304 (GRCm39) |
|
probably null |
Het |
Rfx7 |
A |
G |
9: 72,499,051 (GRCm39) |
T72A |
possibly damaging |
Het |
Scn7a |
T |
C |
2: 66,572,345 (GRCm39) |
I209V |
probably benign |
Het |
Sh3d21 |
C |
T |
4: 126,044,511 (GRCm39) |
|
probably benign |
Het |
Slc5a5 |
A |
G |
8: 71,342,930 (GRCm39) |
V210A |
probably benign |
Het |
Snx25 |
A |
G |
8: 46,558,291 (GRCm39) |
C239R |
probably damaging |
Het |
Sp5 |
T |
C |
2: 70,307,382 (GRCm39) |
F356L |
probably damaging |
Het |
Spaca9 |
T |
C |
2: 28,582,998 (GRCm39) |
I141V |
probably benign |
Het |
Tbcd |
T |
A |
11: 121,485,107 (GRCm39) |
L763H |
probably damaging |
Het |
Thnsl1 |
A |
G |
2: 21,217,059 (GRCm39) |
E271G |
probably benign |
Het |
Vmn1r79 |
T |
A |
7: 11,910,971 (GRCm39) |
C284* |
probably null |
Het |
Vwa5a |
T |
C |
9: 38,649,112 (GRCm39) |
|
probably benign |
Het |
Zar1 |
T |
C |
5: 72,737,736 (GRCm39) |
E121G |
possibly damaging |
Het |
Zscan29 |
C |
T |
2: 120,995,275 (GRCm39) |
|
probably null |
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 |
IGL03371:Slc27a1
|
APN |
8 |
72,038,052 (GRCm39) |
missense |
probably benign |
0.20 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGGCTGTCAGACTGCAAAGC -3'
(R):5'- TCTGATCCTGAGAAGGGGTC -3'
Sequencing Primer
(F):5'- TCAGACTGCAAAGCCCGGTC -3'
(R):5'- TTAGGAATGTGGATGGATTCCCAAC -3'
|
Posted On |
2015-06-12 |