Incidental Mutation 'IGL01103:Slc27a6'
ID |
53177 |
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: 0.057)
|
Stock # |
IGL01103
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
58689329-58745845 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 58689836 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 101
(S101T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025500
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025500]
|
AlphaFold |
E9Q9W4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025500
AA Change: S101T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000025500 Gene: ENSMUSG00000024600 AA Change: S101T
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 |
|
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: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Calhm6 |
A |
T |
10: 34,002,361 (GRCm39) |
C241S |
probably benign |
Het |
Cdh3 |
A |
G |
8: 107,281,937 (GRCm39) |
Y775C |
probably damaging |
Het |
Clip2 |
A |
G |
5: 134,521,204 (GRCm39) |
S980P |
possibly damaging |
Het |
Ddx51 |
C |
T |
5: 110,803,729 (GRCm39) |
A375V |
probably benign |
Het |
Eif4e |
A |
G |
3: 138,253,412 (GRCm39) |
|
probably benign |
Het |
Epb41l5 |
T |
C |
1: 119,495,577 (GRCm39) |
D588G |
probably benign |
Het |
Fer1l4 |
C |
T |
2: 155,886,361 (GRCm39) |
|
probably null |
Het |
Fli1 |
T |
C |
9: 32,335,236 (GRCm39) |
N399D |
probably benign |
Het |
Gm20422 |
T |
C |
8: 70,195,776 (GRCm39) |
T168A |
possibly damaging |
Het |
Kcnk12 |
C |
T |
17: 88,054,195 (GRCm39) |
G156R |
probably damaging |
Het |
Kntc1 |
T |
A |
5: 123,902,283 (GRCm39) |
S309T |
probably damaging |
Het |
Lcp1 |
T |
A |
14: 75,464,533 (GRCm39) |
|
probably null |
Het |
Neo1 |
A |
G |
9: 58,788,082 (GRCm39) |
C1324R |
possibly damaging |
Het |
Nin |
G |
A |
12: 70,103,532 (GRCm39) |
T236I |
probably damaging |
Het |
Npy6r |
A |
G |
18: 44,408,585 (GRCm39) |
E2G |
probably benign |
Het |
Numa1 |
T |
C |
7: 101,650,778 (GRCm39) |
V136A |
probably benign |
Het |
Pcdhb8 |
A |
G |
18: 37,490,253 (GRCm39) |
K644E |
probably damaging |
Het |
Polr3h |
T |
A |
15: 81,806,697 (GRCm39) |
N41Y |
probably damaging |
Het |
Prrx1 |
T |
C |
1: 163,089,531 (GRCm39) |
T99A |
probably damaging |
Het |
Prss1l |
T |
A |
6: 41,374,091 (GRCm39) |
V231D |
probably damaging |
Het |
Rbm18 |
G |
A |
2: 36,024,184 (GRCm39) |
R26* |
probably null |
Het |
Repin1 |
G |
T |
6: 48,574,887 (GRCm39) |
|
probably benign |
Het |
Rnase1 |
T |
C |
14: 51,383,079 (GRCm39) |
N92D |
probably benign |
Het |
Sidt1 |
A |
T |
16: 44,063,906 (GRCm39) |
C782* |
probably null |
Het |
Stard9 |
A |
G |
2: 120,532,328 (GRCm39) |
N2862D |
possibly damaging |
Het |
Tedc1 |
C |
T |
12: 113,126,808 (GRCm39) |
R357* |
probably null |
Het |
Tril |
A |
G |
6: 53,796,023 (GRCm39) |
Y400H |
probably damaging |
Het |
Trim34b |
T |
C |
7: 103,979,106 (GRCm39) |
C118R |
probably damaging |
Het |
Vwa7 |
T |
C |
17: 35,243,918 (GRCm39) |
V784A |
probably damaging |
Het |
|
Other mutations in Slc27a6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
2013-06-21 |