Incidental Mutation 'R1082:Slc27a6'
| ID |
85887 |
| 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 |
039168-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R1082 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
58689329-58745845 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 58689632 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 33
(Y33N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025500
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025500]
|
| AlphaFold |
E9Q9W4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025500
AA Change: Y33N
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000025500
Gene: ENSMUSG00000024600
AA Change: Y33N
| 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: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.1%
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930579F01Rik |
G |
A |
3: 137,879,332 (GRCm39) |
R239C |
possibly damaging |
Het |
| Aass |
T |
A |
6: 23,093,907 (GRCm39) |
D138V |
probably damaging |
Het |
| Adam30 |
T |
C |
3: 98,069,606 (GRCm39) |
S480P |
probably benign |
Het |
| Bdkrb2 |
T |
A |
12: 105,558,851 (GRCm39) |
M364K |
probably benign |
Het |
| Bnc2 |
T |
C |
4: 84,464,572 (GRCm39) |
D67G |
probably damaging |
Het |
| Cfap52 |
A |
G |
11: 67,815,998 (GRCm39) |
I595T |
probably damaging |
Het |
| Clspn |
A |
T |
4: 126,471,572 (GRCm39) |
N909Y |
possibly damaging |
Het |
| Ddx46 |
T |
C |
13: 55,802,909 (GRCm39) |
V477A |
possibly damaging |
Het |
| Dna2 |
C |
T |
10: 62,784,966 (GRCm39) |
R28W |
probably benign |
Het |
| Dnah3 |
A |
G |
7: 119,677,668 (GRCm39) |
S419P |
probably damaging |
Het |
| Fat3 |
A |
G |
9: 15,917,911 (GRCm39) |
F1504S |
probably damaging |
Het |
| Guf1 |
G |
T |
5: 69,724,555 (GRCm39) |
V416L |
possibly damaging |
Het |
| Hsd11b2 |
A |
G |
8: 106,249,783 (GRCm39) |
D298G |
probably damaging |
Het |
| Mipol1 |
A |
T |
12: 57,372,402 (GRCm39) |
I154F |
probably damaging |
Het |
| Myo18b |
A |
G |
5: 112,908,280 (GRCm39) |
S1998P |
probably damaging |
Het |
| Myo6 |
C |
T |
9: 80,195,303 (GRCm39) |
T891M |
probably damaging |
Het |
| Nbeal1 |
T |
A |
1: 60,351,385 (GRCm39) |
I2461K |
probably damaging |
Het |
| Notch4 |
T |
C |
17: 34,806,364 (GRCm39) |
F1767S |
probably damaging |
Het |
| Or7e178 |
A |
T |
9: 20,225,765 (GRCm39) |
H150Q |
possibly damaging |
Het |
| Pi4ka |
A |
T |
16: 17,207,216 (GRCm39) |
S30T |
probably damaging |
Het |
| Ppp1r26 |
A |
G |
2: 28,342,146 (GRCm39) |
D592G |
probably damaging |
Het |
| Ptp4a2 |
T |
C |
4: 129,741,580 (GRCm39) |
F157L |
probably benign |
Het |
| Sf3b1 |
C |
G |
1: 55,058,554 (GRCm39) |
E12Q |
possibly damaging |
Het |
| Shank3 |
T |
C |
15: 89,433,574 (GRCm39) |
S1365P |
probably damaging |
Het |
| Slco1a7 |
C |
T |
6: 141,657,859 (GRCm39) |
G560S |
probably damaging |
Het |
| Speg |
T |
A |
1: 75,391,782 (GRCm39) |
S1572T |
possibly damaging |
Het |
| Taf6 |
G |
A |
5: 138,180,949 (GRCm39) |
R211C |
possibly damaging |
Het |
| Tyrobp |
T |
C |
7: 30,114,033 (GRCm39) |
S65P |
probably 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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTTTCAGGACAGGAGTCTCCAG -3'
(R):5'- GCTCGTTGCTCATCAACAAAGCC -3'
Sequencing Primer
(F):5'- TCTCCAGGGCAAAAAGAGGTG -3'
(R):5'- CCCTTTTCAGCGAGGAGTG -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation