Incidental Mutation 'IGL01465:Slc7a12'
ID |
88096 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Slc7a12
|
Ensembl Gene |
ENSMUSG00000039710 |
Gene Name |
solute carrier family 7 (cationic amino acid transporter, y+ system), member 12 |
Synonyms |
XAT1, Asc-2, asc-type amino acid transporter 2 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.080)
|
Stock # |
IGL01465
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
14545757-14570879 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 14564383 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 85
(S85R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113566
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037321]
[ENSMUST00000120484]
[ENSMUST00000120801]
|
AlphaFold |
Q8VIE6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000037321
AA Change: S356R
PolyPhen 2
Score 0.314 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000038574 Gene: ENSMUSG00000039710 AA Change: S356R
Domain | Start | End | E-Value | Type |
Pfam:AA_permease_2
|
7 |
430 |
1.7e-54 |
PFAM |
Pfam:AA_permease
|
11 |
433 |
3.4e-23 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000120484
AA Change: S85R
PolyPhen 2
Score 0.460 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000112799 Gene: ENSMUSG00000039710 AA Change: S85R
Domain | Start | End | E-Value | Type |
Pfam:AA_permease_2
|
1 |
173 |
5.3e-22 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000120801
AA Change: S85R
PolyPhen 2
Score 0.460 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000113566 Gene: ENSMUSG00000039710 AA Change: S85R
Domain | Start | End | E-Value | Type |
Pfam:AA_permease_2
|
1 |
173 |
5.3e-22 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aass |
A |
G |
6: 23,114,838 (GRCm39) |
|
probably null |
Het |
Abracl |
A |
T |
10: 17,887,399 (GRCm39) |
I76N |
probably damaging |
Het |
Akap12 |
C |
T |
10: 4,306,886 (GRCm39) |
T1232I |
probably damaging |
Het |
Clcn6 |
A |
T |
4: 148,105,908 (GRCm39) |
|
probably benign |
Het |
Cpsf2 |
C |
A |
12: 101,963,592 (GRCm39) |
D440E |
probably damaging |
Het |
Csf2ra |
A |
G |
19: 61,214,436 (GRCm39) |
V243A |
possibly damaging |
Het |
Cyp4f18 |
T |
A |
8: 72,756,288 (GRCm39) |
H96L |
probably benign |
Het |
Dvl2 |
T |
A |
11: 69,897,180 (GRCm39) |
I294N |
probably damaging |
Het |
Fbn2 |
T |
A |
18: 58,336,905 (GRCm39) |
N117Y |
probably null |
Het |
Gdpd3 |
A |
G |
7: 126,367,829 (GRCm39) |
I221V |
possibly damaging |
Het |
Grk2 |
A |
T |
19: 4,340,886 (GRCm39) |
C221S |
probably damaging |
Het |
Idi1 |
T |
C |
13: 8,940,415 (GRCm39) |
I199T |
probably benign |
Het |
Klhl6 |
T |
C |
16: 19,801,572 (GRCm39) |
E61G |
probably damaging |
Het |
Lig1 |
T |
A |
7: 13,030,317 (GRCm39) |
S431R |
probably benign |
Het |
Lrg1 |
T |
C |
17: 56,427,705 (GRCm39) |
E89G |
probably benign |
Het |
Lrrk2 |
A |
G |
15: 91,613,128 (GRCm39) |
K751E |
probably benign |
Het |
Macf1 |
T |
A |
4: 123,384,514 (GRCm39) |
T1128S |
probably benign |
Het |
Nphs1 |
T |
C |
7: 30,186,139 (GRCm39) |
*1243R |
probably null |
Het |
Rere |
G |
A |
4: 150,594,451 (GRCm39) |
V354I |
unknown |
Het |
Safb |
A |
G |
17: 56,909,974 (GRCm39) |
|
probably benign |
Het |
Slc2a10 |
C |
A |
2: 165,359,597 (GRCm39) |
A487D |
possibly damaging |
Het |
Sorbs3 |
G |
A |
14: 70,432,958 (GRCm39) |
|
probably benign |
Het |
Ttn |
A |
G |
2: 76,600,135 (GRCm39) |
M19013T |
probably damaging |
Het |
Utp4 |
A |
G |
8: 107,621,330 (GRCm39) |
T36A |
probably benign |
Het |
Vmn2r111 |
A |
T |
17: 22,767,718 (GRCm39) |
F593Y |
probably benign |
Het |
|
Other mutations in Slc7a12 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02798:Slc7a12
|
APN |
3 |
14,546,217 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03081:Slc7a12
|
APN |
3 |
14,546,315 (GRCm39) |
missense |
probably benign |
0.00 |
R1441:Slc7a12
|
UTSW |
3 |
14,562,414 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1672:Slc7a12
|
UTSW |
3 |
14,564,337 (GRCm39) |
missense |
possibly damaging |
0.77 |
R2021:Slc7a12
|
UTSW |
3 |
14,562,393 (GRCm39) |
missense |
probably damaging |
0.99 |
R2209:Slc7a12
|
UTSW |
3 |
14,546,124 (GRCm39) |
missense |
possibly damaging |
0.81 |
R5471:Slc7a12
|
UTSW |
3 |
14,545,935 (GRCm39) |
missense |
probably damaging |
1.00 |
R6136:Slc7a12
|
UTSW |
3 |
14,564,186 (GRCm39) |
missense |
probably benign |
0.01 |
R6154:Slc7a12
|
UTSW |
3 |
14,546,094 (GRCm39) |
missense |
probably damaging |
0.99 |
R6169:Slc7a12
|
UTSW |
3 |
14,562,388 (GRCm39) |
missense |
probably damaging |
1.00 |
R6180:Slc7a12
|
UTSW |
3 |
14,546,200 (GRCm39) |
splice site |
probably null |
|
R6714:Slc7a12
|
UTSW |
3 |
14,546,380 (GRCm39) |
missense |
probably benign |
0.14 |
R6723:Slc7a12
|
UTSW |
3 |
14,564,257 (GRCm39) |
missense |
probably benign |
0.07 |
R7003:Slc7a12
|
UTSW |
3 |
14,570,580 (GRCm39) |
missense |
probably damaging |
0.99 |
R7230:Slc7a12
|
UTSW |
3 |
14,570,441 (GRCm39) |
missense |
probably damaging |
1.00 |
R7651:Slc7a12
|
UTSW |
3 |
14,546,509 (GRCm39) |
missense |
probably benign |
0.01 |
R8429:Slc7a12
|
UTSW |
3 |
14,562,342 (GRCm39) |
missense |
probably benign |
0.02 |
R9164:Slc7a12
|
UTSW |
3 |
14,564,360 (GRCm39) |
missense |
probably damaging |
0.99 |
R9259:Slc7a12
|
UTSW |
3 |
14,546,376 (GRCm39) |
missense |
probably damaging |
1.00 |
R9344:Slc7a12
|
UTSW |
3 |
14,570,491 (GRCm39) |
missense |
probably damaging |
1.00 |
R9431:Slc7a12
|
UTSW |
3 |
14,546,035 (GRCm39) |
missense |
probably damaging |
1.00 |
R9563:Slc7a12
|
UTSW |
3 |
14,564,360 (GRCm39) |
missense |
possibly damaging |
0.91 |
R9687:Slc7a12
|
UTSW |
3 |
14,545,960 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
Posted On |
2013-11-18 |