Incidental Mutation 'R9306:Slc27a6'
| ID |
705242 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc27a6
|
| Ensembl Gene |
ENSMUSG00000024600 |
| Gene Name |
solute carrier family 27 (fatty acid transporter), member 6 |
| Synonyms |
FATP6, 4732438L20Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R9306 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
58689329-58745845 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 58742953 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 547
(T547I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025500
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025500]
|
| AlphaFold |
E9Q9W4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025500
AA Change: T547I
PolyPhen 2
Score 0.500 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000025500
Gene: ENSMUSG00000024600
AA Change: T547I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
23 |
N/A |
INTRINSIC |
|
Pfam:AMP-binding
|
60 |
487 |
5.3e-71 |
PFAM |
|
Pfam:AMP-binding_C
|
495 |
571 |
2.6e-8 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| Validation Efficiency |
100% (43/43) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the fatty acid transport protein family (FATP). FATPs are involved in the uptake of long-chain fatty acids and have unique expression patterns. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acte1 |
G |
T |
7: 143,434,902 (GRCm39) |
|
probably null |
Het |
| Adam18 |
G |
A |
8: 25,136,420 (GRCm39) |
S367L |
possibly damaging |
Het |
| Alox12b |
A |
T |
11: 69,060,396 (GRCm39) |
I651F |
possibly damaging |
Het |
| Arfgef2 |
A |
G |
2: 166,723,188 (GRCm39) |
K1543E |
probably benign |
Het |
| Arhgap24 |
A |
G |
5: 102,994,008 (GRCm39) |
I30V |
possibly damaging |
Het |
| Atad2 |
A |
T |
15: 57,959,994 (GRCm39) |
Y1343* |
probably null |
Het |
| Clca3a1 |
A |
G |
3: 144,730,339 (GRCm39) |
Y169H |
probably damaging |
Het |
| Cspg4b |
A |
G |
13: 113,506,010 (GRCm39) |
T2380A |
unknown |
Het |
| Eno1b |
G |
A |
18: 48,180,922 (GRCm39) |
V367I |
probably benign |
Het |
| Fbh1 |
T |
C |
2: 11,772,387 (GRCm39) |
E98G |
probably benign |
Het |
| Fbxw14 |
A |
T |
9: 109,100,280 (GRCm39) |
M458K |
probably benign |
Het |
| Galnt13 |
A |
T |
2: 54,823,569 (GRCm39) |
I382F |
probably benign |
Het |
| Hoxa10 |
T |
C |
6: 52,209,635 (GRCm39) |
T368A |
possibly damaging |
Het |
| Ism2 |
C |
T |
12: 87,333,826 (GRCm39) |
C73Y |
probably benign |
Het |
| Kif15 |
T |
C |
9: 122,807,056 (GRCm39) |
V264A |
probably damaging |
Het |
| Lars1 |
T |
C |
18: 42,358,884 (GRCm39) |
|
probably null |
Het |
| Lmtk2 |
T |
A |
5: 144,119,599 (GRCm39) |
H1353Q |
probably benign |
Het |
| Lrp1b |
A |
T |
2: 40,518,762 (GRCm39) |
C157S |
possibly damaging |
Het |
| Map3k7cl |
A |
G |
16: 87,391,149 (GRCm39) |
D91G |
possibly damaging |
Het |
| Mapk8ip1 |
A |
T |
2: 92,219,428 (GRCm39) |
D134E |
probably benign |
Het |
| Meaf6 |
A |
T |
4: 124,996,766 (GRCm39) |
T159S |
unknown |
Het |
| Moxd1 |
A |
G |
10: 24,128,824 (GRCm39) |
|
probably benign |
Het |
| Mup8 |
T |
A |
4: 60,219,682 (GRCm39) |
E195V |
possibly damaging |
Het |
| Nox4 |
A |
T |
7: 86,896,781 (GRCm39) |
Q48L |
probably benign |
Het |
| Or1j19 |
T |
A |
2: 36,677,407 (GRCm39) |
I290N |
probably damaging |
Het |
| Or52d3 |
T |
A |
7: 104,229,128 (GRCm39) |
W92R |
probably damaging |
Het |
| Or6c219 |
G |
A |
10: 129,781,289 (GRCm39) |
S99F |
probably damaging |
Het |
| Otop3 |
G |
T |
11: 115,237,248 (GRCm39) |
V571L |
probably benign |
Het |
| Oxr1 |
A |
G |
15: 41,686,861 (GRCm39) |
H581R |
possibly damaging |
Het |
| Pappa2 |
A |
T |
1: 158,764,492 (GRCm39) |
F340I |
probably damaging |
Het |
| Pcdh10 |
G |
A |
3: 45,335,804 (GRCm39) |
G706D |
probably benign |
Het |
| Pdia5 |
A |
T |
16: 35,250,353 (GRCm39) |
V202D |
probably damaging |
Het |
| Pdpn |
G |
A |
4: 143,000,601 (GRCm39) |
T77M |
probably damaging |
Het |
| Phf11 |
T |
A |
14: 59,482,294 (GRCm39) |
D153V |
probably damaging |
Het |
| Pira1 |
T |
A |
7: 3,740,360 (GRCm39) |
Q287L |
probably benign |
Het |
| Ptprq |
T |
C |
10: 107,422,599 (GRCm39) |
T1598A |
probably benign |
Het |
| Smoc1 |
G |
A |
12: 81,214,430 (GRCm39) |
V282I |
possibly damaging |
Het |
| Sppl3 |
C |
A |
5: 115,212,922 (GRCm39) |
N50K |
probably benign |
Het |
| Taar5 |
T |
C |
10: 23,846,781 (GRCm39) |
S60P |
possibly damaging |
Het |
| Tgtp2 |
G |
T |
11: 48,949,865 (GRCm39) |
Q236K |
probably benign |
Het |
| Timd5 |
A |
C |
11: 46,419,519 (GRCm39) |
M112L |
probably benign |
Het |
| Vmn1r8 |
T |
A |
6: 57,013,713 (GRCm39) |
W255R |
probably benign |
Het |
| Vmn2r11 |
C |
T |
5: 109,196,831 (GRCm39) |
C547Y |
probably damaging |
Het |
| Vmn2r96 |
A |
G |
17: 18,803,226 (GRCm39) |
T187A |
probably benign |
Het |
| Vwa1 |
G |
A |
4: 155,855,328 (GRCm39) |
P262S |
probably benign |
Het |
|
| Other mutations in Slc27a6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01103:Slc27a6
|
APN |
18 |
58,689,836 (GRCm39) |
missense |
probably benign |
|
|
IGL01419:Slc27a6
|
APN |
18 |
58,742,281 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01638:Slc27a6
|
APN |
18 |
58,740,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02067:Slc27a6
|
APN |
18 |
58,745,263 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02612:Slc27a6
|
APN |
18 |
58,689,977 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03118:Slc27a6
|
APN |
18 |
58,689,815 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0096:Slc27a6
|
UTSW |
18 |
58,731,829 (GRCm39) |
splice site |
probably benign |
|
|
R0096:Slc27a6
|
UTSW |
18 |
58,731,829 (GRCm39) |
splice site |
probably benign |
|
|
R0255:Slc27a6
|
UTSW |
18 |
58,742,937 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R0449:Slc27a6
|
UTSW |
18 |
58,742,237 (GRCm39) |
splice site |
probably null |
|
|
R0599:Slc27a6
|
UTSW |
18 |
58,689,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0711:Slc27a6
|
UTSW |
18 |
58,731,829 (GRCm39) |
splice site |
probably benign |
|
|
R1082:Slc27a6
|
UTSW |
18 |
58,689,632 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1560:Slc27a6
|
UTSW |
18 |
58,712,904 (GRCm39) |
nonsense |
probably null |
|
|
R1942:Slc27a6
|
UTSW |
18 |
58,689,870 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2424:Slc27a6
|
UTSW |
18 |
58,738,189 (GRCm39) |
missense |
probably benign |
0.20 |
|
R3796:Slc27a6
|
UTSW |
18 |
58,731,823 (GRCm39) |
splice site |
probably benign |
|
|
R4718:Slc27a6
|
UTSW |
18 |
58,738,138 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4803:Slc27a6
|
UTSW |
18 |
58,705,105 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R5714:Slc27a6
|
UTSW |
18 |
58,731,625 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5773:Slc27a6
|
UTSW |
18 |
58,715,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5996:Slc27a6
|
UTSW |
18 |
58,745,306 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6049:Slc27a6
|
UTSW |
18 |
58,731,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6441:Slc27a6
|
UTSW |
18 |
58,705,130 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6701:Slc27a6
|
UTSW |
18 |
58,712,947 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6703:Slc27a6
|
UTSW |
18 |
58,742,911 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6809:Slc27a6
|
UTSW |
18 |
58,738,126 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7514:Slc27a6
|
UTSW |
18 |
58,745,293 (GRCm39) |
nonsense |
probably null |
|
|
R7536:Slc27a6
|
UTSW |
18 |
58,689,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7615:Slc27a6
|
UTSW |
18 |
58,742,255 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7808:Slc27a6
|
UTSW |
18 |
58,742,267 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8279:Slc27a6
|
UTSW |
18 |
58,705,251 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8842:Slc27a6
|
UTSW |
18 |
58,712,888 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8888:Slc27a6
|
UTSW |
18 |
58,715,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8895:Slc27a6
|
UTSW |
18 |
58,715,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9092:Slc27a6
|
UTSW |
18 |
58,742,330 (GRCm39) |
missense |
probably benign |
|
|
R9103:Slc27a6
|
UTSW |
18 |
58,705,268 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9153:Slc27a6
|
UTSW |
18 |
58,731,805 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9620:Slc27a6
|
UTSW |
18 |
58,742,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGTGACAGTCTGTGCTGAC -3'
(R):5'- TCATCAAGCTCCCTTCATATGCAG -3'
Sequencing Primer
(F):5'- CAGGAATGATTGTGAAAACTCACC -3'
(R):5'- CATATGCAGCTTCAGAGTGCTCAAG -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation