Incidental Mutation 'R3967:Slc27a1'
| ID |
312397 |
| 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 |
040838-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
R3967 (G1)
|
| Quality Score |
211 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
72021526-72039946 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 72032431 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 184
(E184G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148768
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034267]
[ENSMUST00000212111]
[ENSMUST00000212889]
[ENSMUST00000213100]
|
| AlphaFold |
Q60714 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034267
AA Change: E184G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000034267
Gene: ENSMUSG00000031808
AA Change: E184G
| 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 |
probably benign
Transcript: ENSMUST00000212111
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212211
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212225
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212889
AA Change: E184G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213100
|
| Meta Mutation Damage Score |
0.4364 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.2%
|
| Validation Efficiency |
100% (44/44) |
| 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 |
|---|
| 1700018B08Rik |
G |
T |
8: 122,266,719 (GRCm39) |
Q56K |
possibly damaging |
Het |
| Adam18 |
C |
A |
8: 25,119,726 (GRCm39) |
V518L |
probably benign |
Het |
| Akap6 |
A |
T |
12: 53,188,236 (GRCm39) |
K1883N |
probably damaging |
Het |
| Arhgef12 |
C |
A |
9: 42,916,847 (GRCm39) |
R432L |
probably damaging |
Het |
| Armcx6 |
G |
T |
X: 133,650,505 (GRCm39) |
H109N |
possibly damaging |
Het |
| Ctnnd2 |
C |
A |
15: 30,647,075 (GRCm39) |
A257E |
possibly damaging |
Het |
| Depdc5 |
T |
A |
5: 33,101,459 (GRCm39) |
C322* |
probably null |
Het |
| Enpp7 |
T |
C |
11: 118,881,827 (GRCm39) |
I324T |
probably damaging |
Het |
| Gm14401 |
T |
C |
2: 176,778,789 (GRCm39) |
Y292H |
possibly damaging |
Het |
| Gm6871 |
A |
T |
7: 41,196,148 (GRCm39) |
H196Q |
probably damaging |
Het |
| Gm9964 |
T |
C |
11: 79,187,202 (GRCm39) |
T82A |
unknown |
Het |
| Gria2 |
T |
A |
3: 80,618,084 (GRCm39) |
Q317L |
possibly damaging |
Het |
| Grtp1 |
G |
A |
8: 13,239,705 (GRCm39) |
T134I |
probably benign |
Het |
| Itpkb |
A |
T |
1: 180,155,363 (GRCm39) |
|
probably benign |
Het |
| Kbtbd12 |
A |
G |
6: 88,595,488 (GRCm39) |
V114A |
probably benign |
Het |
| Lama3 |
A |
T |
18: 12,713,398 (GRCm39) |
K3230M |
probably damaging |
Het |
| Ly75 |
T |
C |
2: 60,158,217 (GRCm39) |
I1023V |
possibly damaging |
Het |
| Myof |
C |
T |
19: 37,889,711 (GRCm39) |
V1287M |
probably damaging |
Het |
| Myof |
T |
G |
19: 38,011,058 (GRCm39) |
D60A |
possibly damaging |
Het |
| Narf |
A |
T |
11: 121,129,247 (GRCm39) |
E10D |
possibly damaging |
Het |
| Nlrx1 |
A |
T |
9: 44,166,722 (GRCm39) |
|
probably benign |
Het |
| Or10a3m |
A |
G |
7: 108,313,060 (GRCm39) |
M155V |
probably benign |
Het |
| Or8b54 |
A |
G |
9: 38,686,664 (GRCm39) |
T38A |
probably benign |
Het |
| Pabpc5 |
A |
G |
X: 118,838,321 (GRCm39) |
E212G |
probably benign |
Het |
| Pidd1 |
A |
G |
7: 141,018,995 (GRCm39) |
F829L |
possibly damaging |
Het |
| Pik3r2 |
G |
A |
8: 71,223,065 (GRCm39) |
R452C |
probably benign |
Het |
| Pkn2 |
A |
G |
3: 142,515,438 (GRCm39) |
C658R |
probably damaging |
Het |
| Psd |
C |
T |
19: 46,312,845 (GRCm39) |
R175H |
probably benign |
Het |
| Rab39 |
G |
A |
9: 53,597,932 (GRCm39) |
A111V |
possibly damaging |
Het |
| Rb1cc1 |
T |
A |
1: 6,318,494 (GRCm39) |
|
probably benign |
Het |
| Rnf39 |
C |
A |
17: 37,254,035 (GRCm39) |
T19K |
probably damaging |
Het |
| Slc16a3 |
C |
T |
11: 120,846,251 (GRCm39) |
T60M |
possibly damaging |
Het |
| Slc26a4 |
G |
T |
12: 31,578,686 (GRCm39) |
H656N |
probably damaging |
Het |
| Smc6 |
T |
C |
12: 11,348,327 (GRCm39) |
V742A |
probably benign |
Het |
| Thoc1 |
T |
A |
18: 9,968,787 (GRCm39) |
V186D |
probably damaging |
Het |
| Uhrf2 |
T |
C |
19: 30,057,315 (GRCm39) |
V491A |
probably damaging |
Het |
| Uri1 |
A |
G |
7: 37,664,927 (GRCm39) |
V253A |
possibly damaging |
Het |
| Vmn2r83 |
T |
A |
10: 79,327,154 (GRCm39) |
N587K |
probably benign |
Het |
| Vmn2r88 |
A |
T |
14: 51,650,647 (GRCm39) |
Y120F |
probably benign |
Het |
| Wwox |
G |
A |
8: 115,215,673 (GRCm39) |
A149T |
probably damaging |
Het |
| Zfp536 |
T |
C |
7: 37,173,255 (GRCm39) |
*282W |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CACCTACTCCAATGCTGTAGC -3'
(R):5'- ATCTCCAGAGCAGAACTTGAGG -3'
Sequencing Primer
(F):5'- TCCAATGCTGTAGCCAACCTG -3'
(R):5'- AGAACTTGAGGAGGCTCTTCC -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation