Incidental Mutation 'IGL01149:Slc7a6'
| ID |
51838 |
| 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 # |
IGL01149
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
106895489-106925338 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 106906232 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 155
(S155P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034378
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034378]
[ENSMUST00000211824]
[ENSMUST00000212377]
[ENSMUST00000212421]
[ENSMUST00000212802]
|
| AlphaFold |
Q8BGK6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034378
AA Change: S155P
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000034378
Gene: ENSMUSG00000031904
AA Change: S155P
| 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 |
possibly damaging
Transcript: ENSMUST00000211824
AA Change: S155P
PolyPhen 2
Score 0.614 (Sensitivity: 0.87; Specificity: 0.91)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212377
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212421
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000212802
AA Change: S155P
PolyPhen 2
Score 0.614 (Sensitivity: 0.87; Specificity: 0.91)
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4632415L05Rik |
A |
G |
3: 19,949,276 (GRCm39) |
|
noncoding transcript |
Het |
| Aadacl4fm4 |
T |
C |
4: 144,400,349 (GRCm39) |
D143G |
probably benign |
Het |
| Adcy1 |
A |
C |
11: 7,087,385 (GRCm39) |
N420H |
probably damaging |
Het |
| Avp |
T |
C |
2: 130,422,593 (GRCm39) |
|
probably benign |
Het |
| B3galnt2 |
A |
T |
13: 14,155,270 (GRCm39) |
I216F |
probably benign |
Het |
| Cdc42bpa |
T |
C |
1: 179,902,137 (GRCm39) |
S465P |
probably damaging |
Het |
| Cdc42bpg |
T |
A |
19: 6,362,235 (GRCm39) |
|
probably benign |
Het |
| Cdcp2 |
T |
C |
4: 106,964,308 (GRCm39) |
F386S |
probably benign |
Het |
| Cdh4 |
A |
G |
2: 179,515,937 (GRCm39) |
T372A |
probably damaging |
Het |
| Clspn |
T |
G |
4: 126,466,971 (GRCm39) |
M612R |
probably damaging |
Het |
| Dll4 |
T |
C |
2: 119,161,590 (GRCm39) |
C391R |
probably damaging |
Het |
| Dll4 |
T |
C |
2: 119,163,226 (GRCm39) |
Y616H |
probably damaging |
Het |
| Exoc1 |
A |
G |
5: 76,690,091 (GRCm39) |
|
probably benign |
Het |
| F830045P16Rik |
A |
G |
2: 129,302,232 (GRCm39) |
|
probably null |
Het |
| Fhod1 |
A |
G |
8: 106,074,439 (GRCm39) |
|
probably benign |
Het |
| Fign |
T |
C |
2: 63,810,104 (GRCm39) |
R389G |
possibly damaging |
Het |
| Gm13941 |
T |
A |
2: 110,931,482 (GRCm39) |
E50V |
unknown |
Het |
| Kit |
C |
T |
5: 75,771,536 (GRCm39) |
T231M |
probably damaging |
Het |
| Neu3 |
T |
C |
7: 99,463,087 (GRCm39) |
H212R |
probably benign |
Het |
| Nup214 |
G |
T |
2: 31,924,712 (GRCm39) |
S1747I |
probably damaging |
Het |
| Or4f4b |
T |
C |
2: 111,314,446 (GRCm39) |
S224P |
probably damaging |
Het |
| Or4q3 |
G |
T |
14: 50,583,071 (GRCm39) |
A276E |
probably damaging |
Het |
| Or8b12i |
G |
T |
9: 20,082,826 (GRCm39) |
L14I |
probably damaging |
Het |
| Secisbp2 |
T |
C |
13: 51,830,491 (GRCm39) |
|
probably null |
Het |
| Slc26a10 |
G |
A |
10: 127,010,046 (GRCm39) |
|
probably benign |
Het |
| Slf1 |
A |
T |
13: 77,260,767 (GRCm39) |
I173N |
probably damaging |
Het |
| Tedc1 |
C |
T |
12: 113,126,808 (GRCm39) |
R357* |
probably null |
Het |
| Tkfc |
A |
G |
19: 10,578,015 (GRCm39) |
L38P |
probably damaging |
Het |
| Tubgcp4 |
A |
G |
2: 121,015,264 (GRCm39) |
D324G |
probably null |
Het |
| Zfyve16 |
T |
C |
13: 92,644,791 (GRCm39) |
H1137R |
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 |
|
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 |
|
IGL03082:Slc7a6
|
APN |
8 |
106,919,854 (GRCm39) |
splice site |
probably null |
|
|
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 |
2013-06-21 |
Incidental Mutation