Incidental Mutation 'R6346:Slc27a5'
| ID |
513949 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc27a5
|
| Ensembl Gene |
ENSMUSG00000030382 |
| Gene Name |
solute carrier family 27 (fatty acid transporter), member 5 |
| Synonyms |
VLCSH2, FACVL3, VLCS-H2, FATP5 |
| MMRRC Submission |
044500-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.138)
|
| Stock # |
R6346 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
12722273-12732119 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 12724899 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 487
(E487V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032539
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032539]
[ENSMUST00000120903]
|
| AlphaFold |
Q4LDG0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032539
AA Change: E487V
PolyPhen 2
Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000032539
Gene: ENSMUSG00000030382
AA Change: E487V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
transmembrane domain
|
29 |
51 |
N/A |
INTRINSIC |
|
transmembrane domain
|
58 |
77 |
N/A |
INTRINSIC |
|
Pfam:AMP-binding
|
119 |
557 |
1.3e-64 |
PFAM |
|
Pfam:AMP-binding_C
|
565 |
641 |
1.4e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120903
|
| SMART Domains |
Protein: ENSMUSP00000112495
Gene: ENSMUSG00000030382
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
transmembrane domain
|
29 |
51 |
N/A |
INTRINSIC |
|
transmembrane domain
|
58 |
77 |
N/A |
INTRINSIC |
|
Pfam:AMP-binding
|
119 |
414 |
2e-42 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133977
|
| SMART Domains |
Protein: ENSMUSP00000117208
Gene: ENSMUSG00000030382
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AMP-binding
|
1 |
102 |
3.3e-8 |
PFAM |
|
Pfam:AMP-binding
|
100 |
195 |
1.3e-16 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155192
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.6%
|
| Validation Efficiency |
98% (41/42) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an isozyme of very long-chain acyl-CoA synthetase (VLCS). It is capable of activating very long-chain fatty-acids containing 24- and 26-carbons. It is expressed in liver and associated with endoplasmic reticulum but not with peroxisomes. Its primary role is in fatty acid elongation or complex lipid synthesis rather than in degradation. This gene has a mouse ortholog. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit altered lipid homeostasis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap13 |
C |
T |
7: 75,335,002 (GRCm39) |
S455L |
probably damaging |
Het |
| Apbb1ip |
T |
G |
2: 22,757,005 (GRCm39) |
|
probably null |
Het |
| Arhgap18 |
A |
T |
10: 26,722,061 (GRCm39) |
I11F |
probably damaging |
Het |
| Arl14epl |
A |
T |
18: 47,059,409 (GRCm39) |
N8I |
possibly damaging |
Het |
| Atp4a |
T |
A |
7: 30,414,781 (GRCm39) |
I190N |
possibly damaging |
Het |
| Bfar |
T |
C |
16: 13,519,997 (GRCm39) |
F285S |
probably damaging |
Het |
| Carf |
C |
T |
1: 60,180,699 (GRCm39) |
Q409* |
probably null |
Het |
| Cd244a |
T |
C |
1: 171,404,889 (GRCm39) |
V247A |
probably damaging |
Het |
| Ceacam12 |
T |
A |
7: 17,803,326 (GRCm39) |
I244K |
probably damaging |
Het |
| Cmya5 |
T |
C |
13: 93,228,698 (GRCm39) |
E2130G |
probably damaging |
Het |
| Cyp2b23 |
T |
G |
7: 26,381,150 (GRCm39) |
H69P |
probably damaging |
Het |
| Dixdc1 |
T |
C |
9: 50,595,253 (GRCm39) |
Q183R |
probably damaging |
Het |
| Dock10 |
T |
A |
1: 80,553,573 (GRCm39) |
|
probably null |
Het |
| Fam20c |
T |
C |
5: 138,752,450 (GRCm39) |
F279S |
probably damaging |
Het |
| Hcn4 |
C |
T |
9: 58,766,327 (GRCm39) |
T665I |
unknown |
Het |
| Helz2 |
C |
T |
2: 180,875,260 (GRCm39) |
E1745K |
probably damaging |
Het |
| Kdm7a |
A |
T |
6: 39,128,145 (GRCm39) |
|
probably null |
Het |
| Ksr1 |
A |
C |
11: 78,910,490 (GRCm39) |
L814R |
possibly damaging |
Het |
| Lmnb1 |
A |
G |
18: 56,876,310 (GRCm39) |
I473V |
probably benign |
Het |
| Mllt3 |
T |
C |
4: 87,759,445 (GRCm39) |
K201R |
probably damaging |
Het |
| Myo1b |
C |
T |
1: 51,823,666 (GRCm39) |
C413Y |
probably damaging |
Het |
| Myom3 |
A |
T |
4: 135,533,362 (GRCm39) |
N1185I |
probably benign |
Het |
| Nrde2 |
A |
G |
12: 100,098,565 (GRCm39) |
S701P |
probably benign |
Het |
| Ntn4 |
A |
T |
10: 93,480,723 (GRCm39) |
D112V |
probably damaging |
Het |
| Nup43 |
T |
A |
10: 7,550,826 (GRCm39) |
V232D |
probably damaging |
Het |
| Pcdha6 |
G |
A |
18: 37,101,113 (GRCm39) |
C102Y |
probably damaging |
Het |
| Pcdhgb8 |
T |
C |
18: 37,895,131 (GRCm39) |
L67P |
probably damaging |
Het |
| Pkd1l3 |
A |
G |
8: 110,358,016 (GRCm39) |
H836R |
probably damaging |
Het |
| Plekha1 |
T |
A |
7: 130,479,512 (GRCm39) |
I10N |
probably benign |
Het |
| Prss29 |
A |
G |
17: 25,540,084 (GRCm39) |
T161A |
possibly damaging |
Het |
| Psmb5 |
C |
A |
14: 54,854,130 (GRCm39) |
R116L |
probably damaging |
Het |
| Rsf1 |
A |
AGGGCGACGG |
7: 97,229,111 (GRCm39) |
|
probably null |
Het |
| Secisbp2 |
C |
T |
13: 51,833,923 (GRCm39) |
H688Y |
probably damaging |
Het |
| Senp5 |
A |
G |
16: 31,802,665 (GRCm39) |
Y508H |
probably damaging |
Het |
| Shc3 |
T |
A |
13: 51,605,651 (GRCm39) |
T210S |
possibly damaging |
Het |
| Slc27a2 |
G |
A |
2: 126,429,800 (GRCm39) |
V467M |
probably damaging |
Het |
| Snx1 |
T |
C |
9: 66,001,930 (GRCm39) |
T298A |
possibly damaging |
Het |
| Trir |
A |
G |
8: 85,753,643 (GRCm39) |
D39G |
possibly damaging |
Het |
| Ubd |
C |
T |
17: 37,506,242 (GRCm39) |
Q43* |
probably null |
Het |
| Ube2o |
T |
C |
11: 116,432,194 (GRCm39) |
E924G |
probably damaging |
Het |
| Vps13a |
T |
C |
19: 16,659,578 (GRCm39) |
I1650V |
possibly damaging |
Het |
| Xirp2 |
C |
A |
2: 67,346,425 (GRCm39) |
R2889S |
probably benign |
Het |
| Zfp804b |
T |
C |
5: 6,820,534 (GRCm39) |
E843G |
probably benign |
Het |
|
| Other mutations in Slc27a5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00592:Slc27a5
|
APN |
7 |
12,722,566 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL00906:Slc27a5
|
APN |
7 |
12,724,984 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01067:Slc27a5
|
APN |
7 |
12,722,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02101:Slc27a5
|
APN |
7 |
12,727,270 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02148:Slc27a5
|
APN |
7 |
12,728,878 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02165:Slc27a5
|
APN |
7 |
12,728,875 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02324:Slc27a5
|
APN |
7 |
12,731,487 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02879:Slc27a5
|
APN |
7 |
12,728,971 (GRCm39) |
splice site |
probably benign |
|
|
R1519:Slc27a5
|
UTSW |
7 |
12,722,386 (GRCm39) |
splice site |
probably null |
|
|
R1662:Slc27a5
|
UTSW |
7 |
12,725,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1774:Slc27a5
|
UTSW |
7 |
12,731,534 (GRCm39) |
nonsense |
probably null |
|
|
R2012:Slc27a5
|
UTSW |
7 |
12,731,634 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2020:Slc27a5
|
UTSW |
7 |
12,727,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2886:Slc27a5
|
UTSW |
7 |
12,723,487 (GRCm39) |
unclassified |
probably benign |
|
|
R4234:Slc27a5
|
UTSW |
7 |
12,722,370 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4855:Slc27a5
|
UTSW |
7 |
12,722,560 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5126:Slc27a5
|
UTSW |
7 |
12,725,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5450:Slc27a5
|
UTSW |
7 |
12,728,869 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5712:Slc27a5
|
UTSW |
7 |
12,732,010 (GRCm39) |
unclassified |
probably benign |
|
|
R6302:Slc27a5
|
UTSW |
7 |
12,722,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6866:Slc27a5
|
UTSW |
7 |
12,731,443 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6921:Slc27a5
|
UTSW |
7 |
12,725,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7329:Slc27a5
|
UTSW |
7 |
12,725,089 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R8017:Slc27a5
|
UTSW |
7 |
12,723,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8019:Slc27a5
|
UTSW |
7 |
12,723,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8312:Slc27a5
|
UTSW |
7 |
12,725,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8793:Slc27a5
|
UTSW |
7 |
12,723,296 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8966:Slc27a5
|
UTSW |
7 |
12,725,090 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8980:Slc27a5
|
UTSW |
7 |
12,725,090 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9066:Slc27a5
|
UTSW |
7 |
12,722,530 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R9106:Slc27a5
|
UTSW |
7 |
12,725,097 (GRCm39) |
missense |
probably benign |
0.21 |
|
R9191:Slc27a5
|
UTSW |
7 |
12,725,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9275:Slc27a5
|
UTSW |
7 |
12,731,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Slc27a5
|
UTSW |
7 |
12,722,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAAGGTTGAAGACACCACC -3'
(R):5'- CATCCTTCGAGTGAGTCAGTGG -3'
Sequencing Primer
(F):5'- ATTAAGATTTTGGACCCCAGGG -3'
(R):5'- GGACTCCCCAGTGTGATGGTG -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation