Incidental Mutation 'IGL01366:Slc7a8'
| ID |
75936 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc7a8
|
| Ensembl Gene |
ENSMUSG00000022180 |
| Gene Name |
solute carrier family 7 (cationic amino acid transporter, y+ system), member 8 |
| Synonyms |
LAT2 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.534)
|
| Stock # |
IGL01366
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
54959672-55019343 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 55018645 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 47
(I47N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022787
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022787]
|
| AlphaFold |
Q9QXW9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022787
AA Change: I47N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000022787
Gene: ENSMUSG00000022180
AA Change: I47N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
32 |
N/A |
INTRINSIC |
|
Pfam:AA_permease_2
|
39 |
463 |
8.9e-72 |
PFAM |
|
Pfam:AA_permease
|
44 |
469 |
5.2e-41 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226646
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a targeted mutation display hypoactivity, decreased motor performance, and resistance to pharmacologically induced seizures. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310002L09Rik |
A |
T |
4: 73,868,937 (GRCm39) |
|
probably benign |
Het |
| Adamts2 |
T |
C |
11: 50,687,295 (GRCm39) |
Y1041H |
probably damaging |
Het |
| Adck5 |
A |
C |
15: 76,479,816 (GRCm39) |
*568C |
probably null |
Het |
| AK157302 |
T |
A |
13: 21,679,471 (GRCm39) |
|
probably benign |
Het |
| Bmpr2 |
G |
T |
1: 59,852,836 (GRCm39) |
G56W |
probably damaging |
Het |
| Capn11 |
A |
C |
17: 45,964,126 (GRCm39) |
I146S |
probably damaging |
Het |
| Ccdc162 |
A |
T |
10: 41,456,302 (GRCm39) |
D1613E |
possibly damaging |
Het |
| Ccdc167 |
T |
C |
17: 29,924,286 (GRCm39) |
E50G |
probably damaging |
Het |
| Col5a2 |
G |
T |
1: 45,431,048 (GRCm39) |
P864Q |
possibly damaging |
Het |
| Col7a1 |
C |
T |
9: 108,806,187 (GRCm39) |
|
probably benign |
Het |
| Crebbp |
T |
A |
16: 3,944,370 (GRCm39) |
H556L |
probably damaging |
Het |
| Dcpp1 |
T |
A |
17: 24,101,710 (GRCm39) |
I153N |
possibly damaging |
Het |
| Dgke |
C |
T |
11: 88,946,212 (GRCm39) |
R196H |
probably benign |
Het |
| Efr3a |
T |
A |
15: 65,722,999 (GRCm39) |
I459K |
probably benign |
Het |
| Espl1 |
T |
A |
15: 102,228,271 (GRCm39) |
C1682S |
probably benign |
Het |
| Exosc3 |
C |
T |
4: 45,317,747 (GRCm39) |
R185H |
probably damaging |
Het |
| Fgd6 |
T |
C |
10: 93,879,338 (GRCm39) |
V64A |
possibly damaging |
Het |
| Fhip2b |
G |
A |
14: 70,822,813 (GRCm39) |
R688C |
probably damaging |
Het |
| Gata3 |
A |
G |
2: 9,882,276 (GRCm39) |
L42P |
probably damaging |
Het |
| Ggta1 |
C |
A |
2: 35,292,462 (GRCm39) |
E282* |
probably null |
Het |
| Ghr |
T |
C |
15: 3,349,669 (GRCm39) |
D503G |
probably damaging |
Het |
| Gls |
C |
T |
1: 52,207,558 (GRCm39) |
G602D |
probably damaging |
Het |
| Gm2058 |
A |
G |
7: 39,238,658 (GRCm39) |
|
noncoding transcript |
Het |
| Grb7 |
T |
C |
11: 98,343,100 (GRCm39) |
|
probably benign |
Het |
| Ifngr1 |
A |
T |
10: 19,485,348 (GRCm39) |
H449L |
probably damaging |
Het |
| Ighg2b |
T |
G |
12: 113,270,656 (GRCm39) |
D158A |
possibly damaging |
Het |
| Nphs2 |
T |
C |
1: 156,138,605 (GRCm39) |
V83A |
probably benign |
Het |
| Parp6 |
T |
A |
9: 59,543,996 (GRCm39) |
M390K |
possibly damaging |
Het |
| Pask |
T |
C |
1: 93,238,574 (GRCm39) |
K1304E |
probably benign |
Het |
| Scai |
A |
G |
2: 38,996,973 (GRCm39) |
S274P |
probably benign |
Het |
| Sik2 |
A |
G |
9: 50,818,763 (GRCm39) |
S404P |
probably damaging |
Het |
| Tas2r113 |
A |
T |
6: 132,870,760 (GRCm39) |
I263F |
probably benign |
Het |
| Tdrd1 |
T |
A |
19: 56,843,734 (GRCm39) |
D737E |
probably benign |
Het |
| Trio |
T |
C |
15: 27,732,954 (GRCm39) |
T2976A |
possibly damaging |
Het |
| Ttc28 |
T |
C |
5: 111,233,037 (GRCm39) |
|
probably null |
Het |
| Vmn1r21 |
A |
G |
6: 57,820,799 (GRCm39) |
I215T |
probably benign |
Het |
|
| Other mutations in Slc7a8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01160:Slc7a8
|
APN |
14 |
54,972,581 (GRCm39) |
missense |
probably benign |
0.25 |
|
R0582:Slc7a8
|
UTSW |
14 |
54,995,901 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0724:Slc7a8
|
UTSW |
14 |
54,972,643 (GRCm39) |
splice site |
probably benign |
|
|
R1122:Slc7a8
|
UTSW |
14 |
54,961,564 (GRCm39) |
missense |
probably benign |
|
|
R1468:Slc7a8
|
UTSW |
14 |
54,970,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1468:Slc7a8
|
UTSW |
14 |
54,970,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1667:Slc7a8
|
UTSW |
14 |
54,962,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2878:Slc7a8
|
UTSW |
14 |
54,997,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3826:Slc7a8
|
UTSW |
14 |
54,975,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3938:Slc7a8
|
UTSW |
14 |
54,973,298 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4513:Slc7a8
|
UTSW |
14 |
54,973,247 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4514:Slc7a8
|
UTSW |
14 |
54,973,247 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4524:Slc7a8
|
UTSW |
14 |
54,975,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4544:Slc7a8
|
UTSW |
14 |
54,973,247 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4546:Slc7a8
|
UTSW |
14 |
54,973,247 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5179:Slc7a8
|
UTSW |
14 |
54,962,289 (GRCm39) |
nonsense |
probably null |
|
|
R5395:Slc7a8
|
UTSW |
14 |
54,970,734 (GRCm39) |
nonsense |
probably null |
|
|
R6144:Slc7a8
|
UTSW |
14 |
54,966,797 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6537:Slc7a8
|
UTSW |
14 |
54,972,576 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7337:Slc7a8
|
UTSW |
14 |
54,964,263 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7404:Slc7a8
|
UTSW |
14 |
54,964,283 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7597:Slc7a8
|
UTSW |
14 |
55,018,857 (GRCm39) |
start gained |
probably benign |
|
|
R8188:Slc7a8
|
UTSW |
14 |
54,972,579 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8485:Slc7a8
|
UTSW |
14 |
54,962,264 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8781:Slc7a8
|
UTSW |
14 |
54,996,996 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R8968:Slc7a8
|
UTSW |
14 |
55,018,750 (GRCm39) |
missense |
probably benign |
|
|
R9623:Slc7a8
|
UTSW |
14 |
54,964,341 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9752:Slc7a8
|
UTSW |
14 |
54,995,931 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9776:Slc7a8
|
UTSW |
14 |
55,018,759 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2013-10-07 |
Incidental Mutation