Incidental Mutation 'IGL03146:Slc1a7'
ID |
410921 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Slc1a7
|
Ensembl Gene |
ENSMUSG00000008932 |
Gene Name |
solute carrier family 1 (glutamate transporter), member 7 |
Synonyms |
EAAT5, A930031E15Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.061)
|
Stock # |
IGL03146
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
107825603-107870726 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 107850189 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 100
(I100N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102324
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106713]
|
AlphaFold |
Q8JZR4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000106713
AA Change: I100N
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000102324 Gene: ENSMUSG00000008932 AA Change: I100N
Domain | Start | End | E-Value | Type |
Pfam:SDF
|
29 |
485 |
1.9e-127 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam5 |
T |
C |
8: 25,294,519 (GRCm39) |
D360G |
probably damaging |
Het |
Adam6a |
A |
T |
12: 113,509,144 (GRCm39) |
T506S |
probably damaging |
Het |
Adamts15 |
A |
G |
9: 30,832,863 (GRCm39) |
V224A |
probably damaging |
Het |
Arhgef12 |
G |
T |
9: 42,885,866 (GRCm39) |
D1251E |
possibly damaging |
Het |
Ccdc180 |
G |
T |
4: 45,903,840 (GRCm39) |
|
probably benign |
Het |
Ccdc85c |
G |
A |
12: 108,173,395 (GRCm39) |
R387* |
probably null |
Het |
Cfap57 |
T |
A |
4: 118,456,216 (GRCm39) |
I493F |
probably damaging |
Het |
Chst9 |
A |
G |
18: 15,586,035 (GRCm39) |
I176T |
probably damaging |
Het |
Clpx |
G |
T |
9: 65,234,112 (GRCm39) |
V572L |
probably benign |
Het |
Csmd3 |
T |
A |
15: 47,744,873 (GRCm39) |
N1374I |
probably benign |
Het |
Cyp2e1 |
T |
A |
7: 140,350,134 (GRCm39) |
M273K |
probably benign |
Het |
Ehbp1l1 |
T |
C |
19: 5,770,061 (GRCm39) |
E414G |
probably benign |
Het |
Ehd1 |
T |
C |
19: 6,327,368 (GRCm39) |
F122L |
probably damaging |
Het |
Fcho1 |
A |
G |
8: 72,170,074 (GRCm39) |
|
probably benign |
Het |
Fermt3 |
T |
C |
19: 6,980,631 (GRCm39) |
E312G |
possibly damaging |
Het |
Fut2 |
C |
T |
7: 45,300,193 (GRCm39) |
G193E |
possibly damaging |
Het |
G3bp2 |
G |
A |
5: 92,214,399 (GRCm39) |
R132C |
probably damaging |
Het |
Inpp4b |
A |
T |
8: 82,470,410 (GRCm39) |
I35F |
possibly damaging |
Het |
Izumo3 |
T |
G |
4: 92,033,276 (GRCm39) |
I107L |
probably damaging |
Het |
Lama3 |
C |
A |
18: 12,660,681 (GRCm39) |
Q484K |
possibly damaging |
Het |
Lyl1 |
C |
T |
8: 85,429,300 (GRCm39) |
P3L |
possibly damaging |
Het |
Mapkbp1 |
T |
C |
2: 119,828,955 (GRCm39) |
|
probably benign |
Het |
Mast4 |
T |
C |
13: 102,874,163 (GRCm39) |
N1735S |
probably benign |
Het |
Or14a257 |
T |
C |
7: 86,138,402 (GRCm39) |
D119G |
probably damaging |
Het |
Or4c100 |
T |
A |
2: 88,356,488 (GRCm39) |
M187K |
possibly damaging |
Het |
Oxct1 |
T |
C |
15: 4,130,630 (GRCm39) |
L374P |
probably damaging |
Het |
Parp14 |
G |
A |
16: 35,678,823 (GRCm39) |
Q382* |
probably null |
Het |
Pax2 |
A |
G |
19: 44,821,714 (GRCm39) |
|
probably benign |
Het |
Prkaa1 |
T |
C |
15: 5,198,122 (GRCm39) |
V146A |
probably damaging |
Het |
Ptprb |
C |
T |
10: 116,164,032 (GRCm39) |
A900V |
probably benign |
Het |
Rgs6 |
A |
T |
12: 83,099,312 (GRCm39) |
D130V |
probably damaging |
Het |
Ryr1 |
C |
A |
7: 28,793,457 (GRCm39) |
R1344L |
probably benign |
Het |
Scgb1b12 |
C |
A |
7: 32,033,969 (GRCm39) |
D76E |
possibly damaging |
Het |
Sel1l3 |
T |
A |
5: 53,311,585 (GRCm39) |
E633D |
probably benign |
Het |
Slc25a35 |
A |
G |
11: 68,859,678 (GRCm39) |
K64E |
possibly damaging |
Het |
Spmip4 |
A |
T |
6: 50,550,853 (GRCm39) |
V532E |
probably damaging |
Het |
Stil |
C |
A |
4: 114,881,612 (GRCm39) |
Q719K |
probably damaging |
Het |
Stim1 |
T |
A |
7: 102,070,562 (GRCm39) |
L265Q |
probably damaging |
Het |
Tmem191 |
A |
G |
16: 17,095,246 (GRCm39) |
E169G |
probably damaging |
Het |
Tmem255b |
T |
C |
8: 13,504,174 (GRCm39) |
L101P |
probably damaging |
Het |
Trgv3 |
C |
A |
13: 19,427,337 (GRCm39) |
Y73* |
probably null |
Het |
Zfyve26 |
G |
A |
12: 79,330,846 (GRCm39) |
Q458* |
probably null |
Het |
|
Other mutations in Slc1a7 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01377:Slc1a7
|
APN |
4 |
107,850,162 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02643:Slc1a7
|
APN |
4 |
107,869,497 (GRCm39) |
missense |
possibly damaging |
0.86 |
R1023:Slc1a7
|
UTSW |
4 |
107,864,770 (GRCm39) |
missense |
probably damaging |
1.00 |
R1629:Slc1a7
|
UTSW |
4 |
107,865,340 (GRCm39) |
missense |
probably damaging |
1.00 |
R1869:Slc1a7
|
UTSW |
4 |
107,865,561 (GRCm39) |
missense |
probably damaging |
1.00 |
R1957:Slc1a7
|
UTSW |
4 |
107,825,782 (GRCm39) |
missense |
probably benign |
0.05 |
R1970:Slc1a7
|
UTSW |
4 |
107,825,782 (GRCm39) |
missense |
probably benign |
0.05 |
R1971:Slc1a7
|
UTSW |
4 |
107,825,782 (GRCm39) |
missense |
probably benign |
0.05 |
R2058:Slc1a7
|
UTSW |
4 |
107,861,636 (GRCm39) |
missense |
probably benign |
0.41 |
R2201:Slc1a7
|
UTSW |
4 |
107,850,203 (GRCm39) |
missense |
probably damaging |
1.00 |
R2212:Slc1a7
|
UTSW |
4 |
107,868,191 (GRCm39) |
missense |
probably benign |
0.02 |
R3412:Slc1a7
|
UTSW |
4 |
107,868,191 (GRCm39) |
missense |
probably benign |
0.02 |
R3413:Slc1a7
|
UTSW |
4 |
107,868,191 (GRCm39) |
missense |
probably benign |
0.02 |
R3414:Slc1a7
|
UTSW |
4 |
107,868,191 (GRCm39) |
missense |
probably benign |
0.02 |
R3734:Slc1a7
|
UTSW |
4 |
107,834,841 (GRCm39) |
missense |
probably damaging |
1.00 |
R4109:Slc1a7
|
UTSW |
4 |
107,825,858 (GRCm39) |
missense |
probably benign |
0.22 |
R4662:Slc1a7
|
UTSW |
4 |
107,864,751 (GRCm39) |
missense |
probably damaging |
1.00 |
R4676:Slc1a7
|
UTSW |
4 |
107,834,871 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4801:Slc1a7
|
UTSW |
4 |
107,850,237 (GRCm39) |
missense |
probably damaging |
1.00 |
R4802:Slc1a7
|
UTSW |
4 |
107,850,237 (GRCm39) |
missense |
probably damaging |
1.00 |
R4935:Slc1a7
|
UTSW |
4 |
107,864,758 (GRCm39) |
missense |
probably damaging |
1.00 |
R5896:Slc1a7
|
UTSW |
4 |
107,869,587 (GRCm39) |
missense |
probably benign |
0.02 |
R5947:Slc1a7
|
UTSW |
4 |
107,867,497 (GRCm39) |
unclassified |
probably benign |
|
R6056:Slc1a7
|
UTSW |
4 |
107,869,458 (GRCm39) |
missense |
probably benign |
0.00 |
R6088:Slc1a7
|
UTSW |
4 |
107,869,641 (GRCm39) |
missense |
probably damaging |
1.00 |
R6134:Slc1a7
|
UTSW |
4 |
107,869,633 (GRCm39) |
missense |
probably damaging |
1.00 |
R6141:Slc1a7
|
UTSW |
4 |
107,859,379 (GRCm39) |
missense |
possibly damaging |
0.50 |
R7378:Slc1a7
|
UTSW |
4 |
107,859,400 (GRCm39) |
missense |
possibly damaging |
0.50 |
R7587:Slc1a7
|
UTSW |
4 |
107,867,683 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7974:Slc1a7
|
UTSW |
4 |
107,869,473 (GRCm39) |
missense |
probably benign |
0.00 |
R7975:Slc1a7
|
UTSW |
4 |
107,869,473 (GRCm39) |
missense |
probably benign |
0.00 |
R8002:Slc1a7
|
UTSW |
4 |
107,869,473 (GRCm39) |
missense |
probably benign |
0.00 |
R8003:Slc1a7
|
UTSW |
4 |
107,869,473 (GRCm39) |
missense |
probably benign |
0.00 |
R8022:Slc1a7
|
UTSW |
4 |
107,869,473 (GRCm39) |
missense |
probably benign |
0.00 |
R8023:Slc1a7
|
UTSW |
4 |
107,869,473 (GRCm39) |
missense |
probably benign |
0.00 |
R8075:Slc1a7
|
UTSW |
4 |
107,869,473 (GRCm39) |
missense |
probably benign |
0.00 |
R8142:Slc1a7
|
UTSW |
4 |
107,869,473 (GRCm39) |
missense |
probably benign |
0.00 |
R8145:Slc1a7
|
UTSW |
4 |
107,869,473 (GRCm39) |
missense |
probably benign |
0.00 |
R8205:Slc1a7
|
UTSW |
4 |
107,865,508 (GRCm39) |
missense |
probably benign |
0.12 |
R8257:Slc1a7
|
UTSW |
4 |
107,865,394 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9339:Slc1a7
|
UTSW |
4 |
107,850,237 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2016-08-02 |