Incidental Mutation 'IGL02067:Slc27a6'
| ID |
185686 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc27a6
|
| Ensembl Gene |
ENSMUSG00000024600 |
| Gene Name |
solute carrier family 27 (fatty acid transporter), member 6 |
| Synonyms |
FATP6, 4732438L20Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
IGL02067
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
58689329-58745845 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 58745263 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 566
(T566A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025500
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025500]
|
| AlphaFold |
E9Q9W4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025500
AA Change: T566A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000025500
Gene: ENSMUSG00000024600
AA Change: T566A
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000104055
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700028K03Rik |
C |
T |
5: 107,691,816 (GRCm39) |
R36* |
probably null |
Het |
| Aplp2 |
T |
A |
9: 31,062,191 (GRCm39) |
K688N |
probably damaging |
Het |
| Arhgef28 |
G |
T |
13: 98,213,825 (GRCm39) |
Q13K |
probably damaging |
Het |
| Brd8 |
C |
T |
18: 34,735,780 (GRCm39) |
S899N |
probably damaging |
Het |
| Chrna6 |
A |
G |
8: 27,894,424 (GRCm39) |
S494P |
probably damaging |
Het |
| Clcc1 |
T |
A |
3: 108,576,037 (GRCm39) |
L195H |
probably damaging |
Het |
| Coq3 |
A |
G |
4: 21,900,397 (GRCm39) |
E208G |
probably benign |
Het |
| Dock4 |
T |
G |
12: 40,884,384 (GRCm39) |
S1684A |
probably damaging |
Het |
| Duoxa2 |
G |
A |
2: 122,131,072 (GRCm39) |
V78M |
possibly damaging |
Het |
| Entrep3 |
C |
T |
3: 89,095,903 (GRCm39) |
R545* |
probably null |
Het |
| Fam8a1 |
G |
T |
13: 46,823,324 (GRCm39) |
R88L |
possibly damaging |
Het |
| Ganc |
A |
G |
2: 120,236,785 (GRCm39) |
D23G |
probably benign |
Het |
| Gm14305 |
A |
T |
2: 176,411,110 (GRCm39) |
E53D |
probably damaging |
Het |
| Ing5 |
T |
A |
1: 93,739,648 (GRCm39) |
L58Q |
probably damaging |
Het |
| Klrb1-ps1 |
A |
G |
6: 129,106,351 (GRCm39) |
D164G |
probably damaging |
Het |
| Lama2 |
G |
A |
10: 27,052,792 (GRCm39) |
T1389M |
probably benign |
Het |
| Lrp6 |
A |
T |
6: 134,457,359 (GRCm39) |
I815K |
probably damaging |
Het |
| Nek10 |
A |
G |
14: 14,861,639 (GRCm38) |
D565G |
probably benign |
Het |
| Opa1 |
A |
G |
16: 29,435,473 (GRCm39) |
E641G |
probably damaging |
Het |
| Rbm44 |
T |
C |
1: 91,080,567 (GRCm39) |
S252P |
probably damaging |
Het |
| Sbf1 |
A |
G |
15: 89,173,247 (GRCm39) |
V1810A |
probably damaging |
Het |
| Sh3pxd2b |
T |
C |
11: 32,373,095 (GRCm39) |
V754A |
probably benign |
Het |
| Stxbp6 |
C |
T |
12: 44,908,081 (GRCm39) |
R179Q |
probably damaging |
Het |
| Supt6 |
T |
A |
11: 78,121,983 (GRCm39) |
Y223F |
probably benign |
Het |
| Tdrd6 |
T |
C |
17: 43,939,100 (GRCm39) |
I649M |
probably damaging |
Het |
| Tecrl |
A |
T |
5: 83,432,122 (GRCm39) |
C258S |
probably benign |
Het |
| Zfp128 |
T |
C |
7: 12,618,977 (GRCm39) |
I74T |
possibly damaging |
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 |
|
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 |
|
R9306:Slc27a6
|
UTSW |
18 |
58,742,953 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R9620:Slc27a6
|
UTSW |
18 |
58,742,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-05-07 |
Incidental Mutation