Incidental Mutation 'IGL00310:Slc7a15'
ID |
4442 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Slc7a15
|
Ensembl Gene |
ENSMUSG00000020600 |
Gene Name |
solute carrier family 7 (cationic amino acid transporter, y+ system), member 15 |
Synonyms |
Arpat, 9030221C07Rik, 2010001P20Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.151)
|
Stock # |
IGL00310
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
8578483-8649066 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 8589121 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 142
(Y142C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000093548
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036938]
[ENSMUST00000095863]
[ENSMUST00000165657]
|
AlphaFold |
Q50E62 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000036938
|
SMART Domains |
Protein: ENSMUSP00000047873 Gene: ENSMUSG00000020600
Domain | Start | End | E-Value | Type |
Pfam:AA_permease_2
|
1 |
197 |
2.6e-20 |
PFAM |
Pfam:AA_permease
|
1 |
221 |
1.5e-9 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000095863
AA Change: Y142C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000093548 Gene: ENSMUSG00000020600 AA Change: Y142C
Domain | Start | End | E-Value | Type |
Pfam:AA_permease_2
|
31 |
453 |
2.6e-57 |
PFAM |
Pfam:AA_permease
|
35 |
480 |
2.2e-21 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129465
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000165657
|
SMART Domains |
Protein: ENSMUSP00000129806 Gene: ENSMUSG00000020600
Domain | Start | End | E-Value | Type |
Pfam:AA_permease_2
|
1 |
197 |
2.6e-20 |
PFAM |
Pfam:AA_permease
|
1 |
221 |
1.5e-9 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219595
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 10 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agap1 |
T |
G |
1: 89,815,392 (GRCm39) |
V573G |
probably damaging |
Het |
Dpp6 |
T |
A |
5: 27,928,441 (GRCm39) |
D786E |
probably damaging |
Het |
Dync2h1 |
T |
C |
9: 7,155,072 (GRCm39) |
|
probably benign |
Het |
Kcnq4 |
G |
A |
4: 120,555,213 (GRCm39) |
Q657* |
probably null |
Het |
Kif14 |
G |
A |
1: 136,396,756 (GRCm39) |
S354N |
probably benign |
Het |
Mettl25 |
T |
C |
10: 105,662,295 (GRCm39) |
H225R |
probably benign |
Het |
Mocos |
C |
T |
18: 24,793,101 (GRCm39) |
T66I |
possibly damaging |
Het |
Ptprk |
T |
A |
10: 28,212,506 (GRCm39) |
D221E |
possibly damaging |
Het |
Slc13a3 |
A |
T |
2: 165,253,843 (GRCm39) |
F437I |
probably damaging |
Het |
Sox4 |
C |
A |
13: 29,136,956 (GRCm39) |
G17W |
probably damaging |
Het |
|
Other mutations in Slc7a15 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00507:Slc7a15
|
APN |
12 |
8,585,474 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01839:Slc7a15
|
APN |
12 |
8,589,365 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02006:Slc7a15
|
APN |
12 |
8,585,508 (GRCm39) |
critical splice acceptor site |
probably null |
|
IGL02201:Slc7a15
|
APN |
12 |
8,589,023 (GRCm39) |
missense |
possibly damaging |
0.93 |
R0422:Slc7a15
|
UTSW |
12 |
8,584,400 (GRCm39) |
missense |
probably benign |
0.17 |
R0794:Slc7a15
|
UTSW |
12 |
8,589,278 (GRCm39) |
missense |
probably benign |
0.19 |
R1194:Slc7a15
|
UTSW |
12 |
8,585,772 (GRCm39) |
missense |
probably damaging |
1.00 |
R1420:Slc7a15
|
UTSW |
12 |
8,584,442 (GRCm39) |
missense |
probably benign |
0.01 |
R2696:Slc7a15
|
UTSW |
12 |
8,579,345 (GRCm39) |
makesense |
probably null |
|
R4809:Slc7a15
|
UTSW |
12 |
8,589,002 (GRCm39) |
missense |
probably benign |
0.10 |
R5236:Slc7a15
|
UTSW |
12 |
8,589,005 (GRCm39) |
missense |
probably benign |
0.38 |
R5579:Slc7a15
|
UTSW |
12 |
8,589,344 (GRCm39) |
missense |
probably benign |
0.00 |
R6453:Slc7a15
|
UTSW |
12 |
8,584,490 (GRCm39) |
missense |
possibly damaging |
0.77 |
R7136:Slc7a15
|
UTSW |
12 |
8,588,895 (GRCm39) |
missense |
probably damaging |
0.98 |
R8005:Slc7a15
|
UTSW |
12 |
8,589,395 (GRCm39) |
missense |
probably damaging |
0.97 |
R8910:Slc7a15
|
UTSW |
12 |
8,589,117 (GRCm39) |
start gained |
probably benign |
|
R9474:Slc7a15
|
UTSW |
12 |
8,588,794 (GRCm39) |
missense |
probably damaging |
0.99 |
R9786:Slc7a15
|
UTSW |
12 |
8,580,280 (GRCm39) |
missense |
probably benign |
0.31 |
X0027:Slc7a15
|
UTSW |
12 |
8,589,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2012-04-20 |