Incidental Mutation 'R1560:Slc27a6'
| ID |
170581 |
| 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 |
039599-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R1560 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
58689329-58745845 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 58712904 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 242
(L242*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025500
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025500]
|
| AlphaFold |
E9Q9W4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000025500
AA Change: L242*
|
| SMART Domains |
Protein: ENSMUSP00000025500
Gene: ENSMUSG00000024600
AA Change: L242*
| 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: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.6%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610021A01Rik |
A |
G |
7: 41,275,466 (GRCm39) |
T390A |
probably benign |
Het |
| Adamts8 |
T |
A |
9: 30,867,963 (GRCm39) |
C596S |
probably damaging |
Het |
| Avl9 |
T |
A |
6: 56,702,113 (GRCm39) |
Y89* |
probably null |
Het |
| Cacna1e |
G |
A |
1: 154,296,850 (GRCm39) |
R18* |
probably null |
Het |
| Cacng2 |
A |
G |
15: 77,897,518 (GRCm39) |
F97S |
probably benign |
Het |
| Calu |
A |
G |
6: 29,361,657 (GRCm39) |
D107G |
probably benign |
Het |
| Capns2 |
G |
A |
8: 93,628,771 (GRCm39) |
R220Q |
probably damaging |
Het |
| Catsperb |
C |
T |
12: 101,591,985 (GRCm39) |
T1105I |
probably benign |
Het |
| Cep350 |
T |
C |
1: 155,804,825 (GRCm39) |
N753D |
possibly damaging |
Het |
| D6Ertd527e |
C |
G |
6: 87,088,506 (GRCm39) |
T223S |
unknown |
Het |
| Dnah5 |
G |
T |
15: 28,420,149 (GRCm39) |
V3816F |
probably damaging |
Het |
| Dzip3 |
T |
C |
16: 48,771,903 (GRCm39) |
|
probably null |
Het |
| Ep400 |
A |
T |
5: 110,818,972 (GRCm39) |
|
probably null |
Het |
| Epb41l2 |
T |
A |
10: 25,371,334 (GRCm39) |
|
probably null |
Het |
| Fetub |
T |
C |
16: 22,758,117 (GRCm39) |
V300A |
probably benign |
Het |
| Gabrb3 |
A |
T |
7: 57,466,043 (GRCm39) |
M308L |
probably damaging |
Het |
| Galnt16 |
A |
T |
12: 80,648,566 (GRCm39) |
D546V |
possibly damaging |
Het |
| Gimap8 |
G |
T |
6: 48,633,068 (GRCm39) |
G296W |
probably damaging |
Het |
| Gpr158 |
A |
G |
2: 21,831,125 (GRCm39) |
K742E |
probably damaging |
Het |
| Hmbs |
T |
C |
9: 44,248,657 (GRCm39) |
H72R |
possibly damaging |
Het |
| Krt16 |
A |
G |
11: 100,137,475 (GRCm39) |
I410T |
probably damaging |
Het |
| Lamb3 |
G |
A |
1: 193,021,710 (GRCm39) |
A971T |
probably benign |
Het |
| Lilra6 |
A |
C |
7: 3,914,407 (GRCm39) |
|
probably null |
Het |
| Mroh7 |
A |
T |
4: 106,568,451 (GRCm39) |
M418K |
possibly damaging |
Het |
| Myh11 |
T |
A |
16: 14,044,484 (GRCm39) |
K640* |
probably null |
Het |
| Nsd1 |
T |
A |
13: 55,394,533 (GRCm39) |
C711* |
probably null |
Het |
| Or1j17 |
T |
A |
2: 36,578,155 (GRCm39) |
L47Q |
probably damaging |
Het |
| Or2ak5 |
A |
T |
11: 58,611,513 (GRCm39) |
Y120* |
probably null |
Het |
| Or3a10 |
A |
G |
11: 73,935,441 (GRCm39) |
S220P |
probably damaging |
Het |
| Or4c111 |
T |
C |
2: 88,843,550 (GRCm39) |
Y286C |
probably damaging |
Het |
| Otop3 |
A |
T |
11: 115,235,289 (GRCm39) |
H307L |
possibly damaging |
Het |
| Plekhm3 |
T |
C |
1: 64,976,976 (GRCm39) |
T165A |
probably benign |
Het |
| Poldip3 |
G |
A |
15: 83,022,527 (GRCm39) |
R86W |
probably damaging |
Het |
| Rif1 |
A |
T |
2: 52,001,143 (GRCm39) |
R1532S |
probably damaging |
Het |
| Sf3b1 |
C |
G |
1: 55,058,554 (GRCm39) |
E12Q |
possibly damaging |
Het |
| Spata45 |
T |
C |
1: 190,772,017 (GRCm39) |
S80P |
probably benign |
Het |
| Taf4 |
A |
G |
2: 179,577,746 (GRCm39) |
V525A |
probably benign |
Het |
| Tbck |
A |
G |
3: 132,543,809 (GRCm39) |
T887A |
probably damaging |
Het |
| Tnrc6c |
C |
T |
11: 117,650,463 (GRCm39) |
T1571I |
probably damaging |
Het |
| Trim38 |
A |
G |
13: 23,966,685 (GRCm39) |
Y44C |
probably benign |
Het |
| Tsg101 |
A |
T |
7: 46,542,208 (GRCm39) |
|
probably null |
Het |
| Tsku |
T |
A |
7: 98,002,151 (GRCm39) |
D60V |
probably damaging |
Het |
| Ttc28 |
G |
A |
5: 111,373,543 (GRCm39) |
S962N |
probably damaging |
Het |
| Upf1 |
G |
A |
8: 70,791,092 (GRCm39) |
P550L |
probably damaging |
Het |
| Vipr2 |
A |
G |
12: 116,058,401 (GRCm39) |
D106G |
probably benign |
Het |
| Vps13c |
T |
C |
9: 67,843,745 (GRCm39) |
|
probably null |
Het |
| Washc4 |
T |
C |
10: 83,391,973 (GRCm39) |
Y220H |
probably damaging |
Het |
| Wdr81 |
C |
T |
11: 75,342,449 (GRCm39) |
W939* |
probably null |
Het |
| Zfp512b |
T |
C |
2: 181,230,472 (GRCm39) |
T473A |
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 |
|
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'- GGAAAACCTCTGCCTGCCAACA -3'
(R):5'- AGGGAGTCTATACCACAAGGGCAAA -3'
Sequencing Primer
(F):5'- aattttttcttctccacctccattc -3'
(R):5'- AATGTGTCCTTTCCACACATAGTG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation