Incidental Mutation 'IGL03082:Slc7a6'
| ID |
417895 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc7a6
|
| Ensembl Gene |
ENSMUSG00000031904 |
| Gene Name |
solute carrier family 7 (cationic amino acid transporter, y+ system), member 6 |
| Synonyms |
LAT-2 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.349)
|
| Stock # |
IGL03082
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
106895489-106925338 bp(+) (GRCm39) |
| Type of Mutation |
splice site (4 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 106919854 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148353
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034378]
[ENSMUST00000211824]
[ENSMUST00000212377]
[ENSMUST00000212421]
|
| AlphaFold |
Q8BGK6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034378
AA Change: Y289C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034378
Gene: ENSMUSG00000031904
AA Change: Y289C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AA_permease_2
|
45 |
467 |
1.2e-66 |
PFAM |
|
Pfam:AA_permease
|
50 |
471 |
2.1e-27 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211824
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212377
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000212421
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212837
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213020
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asic1 |
T |
A |
15: 99,594,428 (GRCm39) |
N324K |
probably benign |
Het |
| Atpaf2 |
T |
C |
11: 60,294,670 (GRCm39) |
E251G |
probably damaging |
Het |
| Cacna1d |
T |
C |
14: 29,821,190 (GRCm39) |
K1109E |
probably damaging |
Het |
| Ces1d |
C |
A |
8: 93,896,346 (GRCm39) |
|
probably null |
Het |
| Chst1 |
C |
T |
2: 92,444,278 (GRCm39) |
T250I |
possibly damaging |
Het |
| Cpne6 |
T |
C |
14: 55,753,760 (GRCm39) |
L406P |
probably damaging |
Het |
| Cryz |
A |
G |
3: 154,310,563 (GRCm39) |
M8V |
probably damaging |
Het |
| Dpysl2 |
T |
C |
14: 67,045,459 (GRCm39) |
E438G |
probably damaging |
Het |
| Elovl1 |
T |
C |
4: 118,288,077 (GRCm39) |
I71T |
probably benign |
Het |
| Eml2 |
T |
A |
7: 18,935,802 (GRCm39) |
Y679N |
probably damaging |
Het |
| Fam185a |
G |
A |
5: 21,660,836 (GRCm39) |
V284I |
possibly damaging |
Het |
| Fpgs |
C |
T |
2: 32,575,769 (GRCm39) |
W391* |
probably null |
Het |
| Hdac11 |
C |
T |
6: 91,150,085 (GRCm39) |
P295S |
probably damaging |
Het |
| Herc2 |
A |
T |
7: 55,835,671 (GRCm39) |
I3260F |
probably benign |
Het |
| Hltf |
G |
A |
3: 20,118,723 (GRCm39) |
|
probably benign |
Het |
| Immp2l |
T |
G |
12: 41,160,900 (GRCm39) |
V66G |
possibly damaging |
Het |
| Lrrc4c |
T |
C |
2: 97,460,931 (GRCm39) |
I519T |
probably benign |
Het |
| Megf8 |
A |
G |
7: 25,029,661 (GRCm39) |
T402A |
probably benign |
Het |
| Mttp |
T |
G |
3: 137,829,556 (GRCm39) |
I111L |
probably benign |
Het |
| Mycbp2 |
T |
A |
14: 103,441,805 (GRCm39) |
I1987F |
probably benign |
Het |
| Ncr1 |
T |
A |
7: 4,344,241 (GRCm39) |
|
probably benign |
Het |
| Nedd4 |
G |
A |
9: 72,584,676 (GRCm39) |
|
probably null |
Het |
| Nherf4 |
A |
T |
9: 44,162,083 (GRCm39) |
S39T |
possibly damaging |
Het |
| Nnt |
A |
G |
13: 119,533,404 (GRCm39) |
F87S |
probably damaging |
Het |
| Nol6 |
A |
G |
4: 41,115,878 (GRCm39) |
|
probably benign |
Het |
| Pkhd1 |
A |
T |
1: 20,635,857 (GRCm39) |
I491N |
probably damaging |
Het |
| Plcxd2 |
T |
C |
16: 45,785,473 (GRCm39) |
I311V |
probably damaging |
Het |
| Pou2f3 |
C |
A |
9: 43,058,212 (GRCm39) |
|
probably null |
Het |
| Rgsl1 |
G |
A |
1: 153,675,693 (GRCm39) |
T836I |
possibly damaging |
Het |
| Rttn |
G |
A |
18: 89,002,072 (GRCm39) |
G328D |
probably damaging |
Het |
| Serpina11 |
T |
C |
12: 103,952,560 (GRCm39) |
E77G |
probably benign |
Het |
| Slc35f1 |
G |
A |
10: 52,809,234 (GRCm39) |
V74I |
probably benign |
Het |
| Smco2 |
A |
G |
6: 146,761,542 (GRCm39) |
T154A |
possibly damaging |
Het |
| Tcerg1 |
A |
G |
18: 42,706,422 (GRCm39) |
Y1033C |
probably damaging |
Het |
| Tmem87a |
A |
G |
2: 120,227,847 (GRCm39) |
F100S |
possibly damaging |
Het |
| Tssk4 |
T |
C |
14: 55,888,518 (GRCm39) |
F129S |
probably damaging |
Het |
| Wdr43 |
C |
T |
17: 71,945,336 (GRCm39) |
T315I |
probably damaging |
Het |
|
| Other mutations in Slc7a6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00771:Slc7a6
|
APN |
8 |
106,905,872 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01149:Slc7a6
|
APN |
8 |
106,906,232 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02232:Slc7a6
|
APN |
8 |
106,923,206 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL02972:Slc7a6
|
APN |
8 |
106,906,059 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03108:Slc7a6
|
APN |
8 |
106,921,149 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0062:Slc7a6
|
UTSW |
8 |
106,916,264 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0062:Slc7a6
|
UTSW |
8 |
106,916,263 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0325:Slc7a6
|
UTSW |
8 |
106,921,149 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1803:Slc7a6
|
UTSW |
8 |
106,919,088 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R1928:Slc7a6
|
UTSW |
8 |
106,920,120 (GRCm39) |
unclassified |
probably benign |
|
|
R5912:Slc7a6
|
UTSW |
8 |
106,906,289 (GRCm39) |
missense |
probably benign |
|
|
R6317:Slc7a6
|
UTSW |
8 |
106,919,099 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6370:Slc7a6
|
UTSW |
8 |
106,922,069 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7030:Slc7a6
|
UTSW |
8 |
106,922,606 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R7944:Slc7a6
|
UTSW |
8 |
106,906,239 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7945:Slc7a6
|
UTSW |
8 |
106,906,239 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R8314:Slc7a6
|
UTSW |
8 |
106,895,590 (GRCm39) |
unclassified |
probably benign |
|
|
R8369:Slc7a6
|
UTSW |
8 |
106,919,796 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8397:Slc7a6
|
UTSW |
8 |
106,920,165 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8889:Slc7a6
|
UTSW |
8 |
106,922,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9109:Slc7a6
|
UTSW |
8 |
106,922,534 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9298:Slc7a6
|
UTSW |
8 |
106,922,534 (GRCm39) |
missense |
probably damaging |
0.96 |
|
RF008:Slc7a6
|
UTSW |
8 |
106,922,030 (GRCm39) |
missense |
probably benign |
0.13 |
|
| Posted On |
2016-08-02 |
Incidental Mutation