Incidental Mutation 'R3817:Slc27a1'
| ID |
274743 |
| 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 |
040771-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
R3817 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
72021526-72039946 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 72037122 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 422
(V422A)
|
| 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: V422A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000034267
Gene: ENSMUSG00000031808
AA Change: V422A
| 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: V422A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213100
|
| Meta Mutation Damage Score |
0.7295 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
100% (34/34) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Appbp2 |
G |
T |
11: 85,088,934 (GRCm39) |
P369T |
probably damaging |
Het |
| Atp1b1 |
C |
T |
1: 164,270,874 (GRCm39) |
R35H |
probably benign |
Het |
| B3galt2 |
G |
T |
1: 143,522,811 (GRCm39) |
G316C |
probably damaging |
Het |
| Chd9 |
T |
C |
8: 91,710,893 (GRCm39) |
|
probably benign |
Het |
| Clec4a4 |
A |
C |
6: 122,967,366 (GRCm39) |
N14T |
probably damaging |
Het |
| Crb1 |
T |
A |
1: 139,175,835 (GRCm39) |
Q716L |
probably benign |
Het |
| Cts7 |
T |
C |
13: 61,504,350 (GRCm39) |
N71S |
probably damaging |
Het |
| Cyb561a3 |
T |
C |
19: 10,559,728 (GRCm39) |
S18P |
possibly damaging |
Het |
| Cyp2c67 |
A |
T |
19: 39,627,127 (GRCm39) |
F234L |
probably benign |
Het |
| Cyp4a12b |
A |
T |
4: 115,289,667 (GRCm39) |
D178V |
probably damaging |
Het |
| Exph5 |
C |
T |
9: 53,286,794 (GRCm39) |
Q1292* |
probably null |
Het |
| Gjb2 |
A |
G |
14: 57,337,530 (GRCm39) |
V226A |
probably benign |
Het |
| Hivep2 |
T |
C |
10: 14,019,685 (GRCm39) |
V2152A |
possibly damaging |
Het |
| Lig3 |
G |
A |
11: 82,686,941 (GRCm39) |
V695M |
possibly damaging |
Het |
| Lrp1b |
T |
C |
2: 40,766,670 (GRCm39) |
E2735G |
probably damaging |
Het |
| Lrrtm4 |
A |
G |
6: 79,999,044 (GRCm39) |
E152G |
probably benign |
Het |
| Ly9 |
G |
T |
1: 171,416,653 (GRCm39) |
T537N |
possibly damaging |
Het |
| Nav2 |
A |
G |
7: 49,114,310 (GRCm39) |
T765A |
probably benign |
Het |
| Or5p59 |
A |
G |
7: 107,702,705 (GRCm39) |
Y63C |
possibly damaging |
Het |
| Or8b12c |
C |
T |
9: 37,715,465 (GRCm39) |
S86L |
probably benign |
Het |
| Or8b40 |
A |
T |
9: 38,027,922 (GRCm39) |
T277S |
possibly damaging |
Het |
| Or8b55 |
A |
G |
9: 38,727,722 (GRCm39) |
K308E |
possibly damaging |
Het |
| Or8g52 |
A |
G |
9: 39,631,404 (GRCm39) |
N294D |
possibly damaging |
Het |
| Pomgnt1 |
T |
A |
4: 116,011,139 (GRCm39) |
|
probably null |
Het |
| Ppp2r5c |
T |
C |
12: 110,510,621 (GRCm39) |
|
probably null |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Skint5 |
A |
G |
4: 113,486,319 (GRCm39) |
|
probably benign |
Het |
| Sorl1 |
A |
G |
9: 41,975,345 (GRCm39) |
L487P |
possibly damaging |
Het |
| Tnfrsf11a |
C |
T |
1: 105,737,085 (GRCm39) |
T64I |
probably damaging |
Het |
| Tns3 |
G |
C |
11: 8,384,619 (GRCm39) |
R1400G |
probably damaging |
Het |
| Vmn2r19 |
A |
T |
6: 123,286,601 (GRCm39) |
Y78F |
probably damaging |
Het |
| Wdr37 |
A |
G |
13: 8,903,632 (GRCm39) |
|
probably benign |
Het |
| Zfp672 |
G |
T |
11: 58,207,462 (GRCm39) |
H286Q |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAACATGGACGGCAAGGTTC -3'
(R):5'- TTGGTGGCACTGTCACTAAC -3'
Sequencing Primer
(F):5'- GCAAGGTTCGCAGCTGTG -3'
(R):5'- TGGTGGCACTGTCACTAACATAAC -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation