Incidental Mutation 'R5714:Slc27a6'
| ID |
451074 |
| 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 |
043186-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R5714 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
58689329-58745845 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 58731625 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 325
(E325V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025500
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025500]
|
| AlphaFold |
E9Q9W4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025500
AA Change: E325V
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000025500
Gene: ENSMUSG00000024600
AA Change: E325V
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk2 |
G |
T |
18: 65,438,532 (GRCm39) |
Q1421K |
possibly damaging |
Het |
| Ankub1 |
G |
A |
3: 57,580,258 (GRCm39) |
T133M |
probably benign |
Het |
| Bcar3 |
G |
A |
3: 122,248,736 (GRCm39) |
V112M |
possibly damaging |
Het |
| Cacna1s |
A |
G |
1: 136,039,804 (GRCm39) |
K1476R |
probably benign |
Het |
| Cdc42ep1 |
C |
A |
15: 78,733,977 (GRCm39) |
A359E |
possibly damaging |
Het |
| Cemip |
T |
A |
7: 83,624,387 (GRCm39) |
D483V |
probably damaging |
Het |
| Cyp4f39 |
G |
A |
17: 32,700,799 (GRCm39) |
R156H |
probably damaging |
Het |
| Dpys |
T |
A |
15: 39,720,553 (GRCm39) |
H69L |
probably damaging |
Het |
| Fbxl21 |
A |
G |
13: 56,674,885 (GRCm39) |
I79V |
probably benign |
Het |
| Fgf9 |
T |
C |
14: 58,347,022 (GRCm39) |
L205P |
probably damaging |
Het |
| Fkbp14 |
A |
G |
6: 54,562,835 (GRCm39) |
F144L |
probably damaging |
Het |
| Flnb |
A |
C |
14: 7,929,073 (GRCm38) |
D1934A |
probably damaging |
Het |
| Garre1 |
G |
A |
7: 33,939,941 (GRCm39) |
Q717* |
probably null |
Het |
| Glul |
T |
C |
1: 153,782,243 (GRCm39) |
|
probably benign |
Het |
| Helz |
T |
A |
11: 107,517,347 (GRCm39) |
|
probably null |
Het |
| Kap |
A |
G |
6: 133,828,956 (GRCm39) |
Y42H |
probably benign |
Het |
| Kcnh8 |
T |
C |
17: 53,285,150 (GRCm39) |
V1040A |
probably benign |
Het |
| Kptn |
A |
G |
7: 15,854,683 (GRCm39) |
|
probably null |
Het |
| Lypd3 |
A |
G |
7: 24,338,494 (GRCm39) |
T182A |
possibly damaging |
Het |
| Mcm5 |
A |
C |
8: 75,847,538 (GRCm39) |
D445A |
probably damaging |
Het |
| Mios |
T |
A |
6: 8,215,434 (GRCm39) |
I210K |
probably damaging |
Het |
| Nat8f2 |
A |
G |
6: 85,844,891 (GRCm39) |
V157A |
probably benign |
Het |
| Or1e16 |
T |
A |
11: 73,286,187 (GRCm39) |
|
probably null |
Het |
| Pard3b |
C |
A |
1: 62,677,075 (GRCm39) |
A1140E |
probably null |
Het |
| Pcnt |
A |
T |
10: 76,256,325 (GRCm39) |
D638E |
probably damaging |
Het |
| Pdgfra |
T |
C |
5: 75,346,673 (GRCm39) |
I834T |
probably damaging |
Het |
| Phyhd1 |
T |
A |
2: 30,169,994 (GRCm39) |
L162H |
probably damaging |
Het |
| Polg |
C |
A |
7: 79,101,739 (GRCm39) |
A1026S |
possibly damaging |
Het |
| Prl7c1 |
A |
T |
13: 27,962,949 (GRCm39) |
L18* |
probably null |
Het |
| Rars2 |
T |
A |
4: 34,645,779 (GRCm39) |
M232K |
probably benign |
Het |
| Rtl1 |
A |
G |
12: 109,560,114 (GRCm39) |
V575A |
probably damaging |
Het |
| Slc18b1 |
A |
T |
10: 23,674,664 (GRCm39) |
T40S |
probably benign |
Het |
| Slc22a19 |
T |
C |
19: 7,688,387 (GRCm39) |
T58A |
probably damaging |
Het |
| Slc35e2 |
C |
T |
4: 155,694,483 (GRCm39) |
P10L |
probably benign |
Het |
| Srd5a3 |
T |
A |
5: 76,301,413 (GRCm39) |
F214Y |
probably benign |
Het |
| Tgfbr2 |
A |
T |
9: 116,004,092 (GRCm39) |
L5Q |
probably damaging |
Het |
| Tmem94 |
C |
A |
11: 115,684,016 (GRCm39) |
Q779K |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,652,837 (GRCm39) |
P216S |
probably benign |
Het |
| Ush2a |
A |
T |
1: 188,132,454 (GRCm39) |
Q892L |
probably benign |
Het |
| Vgll4 |
A |
T |
6: 114,867,737 (GRCm39) |
M38K |
possibly damaging |
Het |
| Vmn2r109 |
A |
G |
17: 20,773,121 (GRCm39) |
I500T |
probably damaging |
Het |
| Vps33a |
T |
C |
5: 123,707,563 (GRCm39) |
I135V |
probably benign |
Het |
| Wscd1 |
T |
C |
11: 71,675,261 (GRCm39) |
|
probably null |
Het |
| Zfp457 |
C |
A |
13: 67,444,490 (GRCm39) |
M4I |
possibly damaging |
Het |
| Zfp532 |
G |
A |
18: 65,756,606 (GRCm39) |
G180R |
possibly damaging |
Het |
| Zfp97 |
A |
G |
17: 17,365,871 (GRCm39) |
T457A |
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 |
|
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 |
|
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'- TCCCAGATATGGAGGAGAACC -3'
(R):5'- ATTTGCTCTCCCGACAGATC -3'
Sequencing Primer
(F):5'- CATTAGCTGCCAGACGTGACTC -3'
(R):5'- AGATCCAATCTTCCCAGTATGG -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation