Incidental Mutation 'IGL01377:Slc1a7'
ID |
78772 |
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: 0.069)
|
Stock # |
IGL01377
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
107825603-107870726 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 107850162 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 91
(D91V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102324
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106713]
|
AlphaFold |
Q8JZR4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000106713
AA Change: D91V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000102324 Gene: ENSMUSG00000008932 AA Change: D91V
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 |
A530064D06Rik |
A |
T |
17: 48,460,108 (GRCm39) |
V196D |
probably damaging |
Het |
Ago1 |
C |
T |
4: 126,353,610 (GRCm39) |
V279M |
probably damaging |
Het |
Bltp1 |
T |
C |
3: 37,027,601 (GRCm39) |
|
probably null |
Het |
Ccdc170 |
A |
G |
10: 4,510,966 (GRCm39) |
D675G |
probably damaging |
Het |
Cdc42bpa |
T |
A |
1: 179,892,708 (GRCm39) |
Y291N |
probably damaging |
Het |
Cdca5 |
T |
C |
19: 6,140,312 (GRCm39) |
S158P |
probably damaging |
Het |
Cdh8 |
A |
G |
8: 99,760,021 (GRCm39) |
I576T |
probably damaging |
Het |
Cpsf2 |
T |
A |
12: 101,953,640 (GRCm39) |
|
probably null |
Het |
Cyc1 |
C |
T |
15: 76,229,162 (GRCm39) |
R143* |
probably null |
Het |
Dcaf6 |
A |
T |
1: 165,216,293 (GRCm39) |
S437T |
probably benign |
Het |
Eif5b |
A |
G |
1: 38,075,179 (GRCm39) |
D552G |
probably benign |
Het |
Epor |
T |
C |
9: 21,870,593 (GRCm39) |
D429G |
probably damaging |
Het |
Farp2 |
A |
G |
1: 93,531,181 (GRCm39) |
I560V |
possibly damaging |
Het |
Fbxw21 |
T |
A |
9: 108,975,713 (GRCm39) |
R228* |
probably null |
Het |
Fyb1 |
T |
C |
15: 6,609,801 (GRCm39) |
S125P |
probably benign |
Het |
Gfm1 |
A |
T |
3: 67,382,086 (GRCm39) |
Y720F |
probably damaging |
Het |
Hspbap1 |
T |
A |
16: 35,645,681 (GRCm39) |
D455E |
possibly damaging |
Het |
Katnal2 |
T |
C |
18: 77,090,153 (GRCm39) |
R285G |
probably damaging |
Het |
Kif12 |
G |
A |
4: 63,088,962 (GRCm39) |
T153I |
probably damaging |
Het |
Klhl31 |
T |
C |
9: 77,558,013 (GRCm39) |
F243S |
probably benign |
Het |
Large2 |
A |
G |
2: 92,199,676 (GRCm39) |
Y208H |
probably damaging |
Het |
Lrp1b |
A |
G |
2: 40,491,550 (GRCm39) |
V239A |
probably damaging |
Het |
Mblac2 |
G |
A |
13: 81,898,266 (GRCm39) |
R214H |
probably damaging |
Het |
Mlf2 |
A |
G |
6: 124,911,654 (GRCm39) |
N168D |
probably damaging |
Het |
Mtmr6 |
T |
A |
14: 60,519,483 (GRCm39) |
Y134* |
probably null |
Het |
Mtus1 |
T |
C |
8: 41,536,172 (GRCm39) |
K515E |
possibly damaging |
Het |
Nek1 |
A |
G |
8: 61,542,490 (GRCm39) |
T718A |
probably benign |
Het |
Nfx1 |
A |
G |
4: 40,977,241 (GRCm39) |
N305S |
probably benign |
Het |
Nrxn3 |
T |
A |
12: 89,499,782 (GRCm39) |
|
probably null |
Het |
Nsf |
T |
C |
11: 103,763,473 (GRCm39) |
D377G |
probably damaging |
Het |
Pde4b |
A |
G |
4: 102,344,599 (GRCm39) |
E102G |
probably damaging |
Het |
Pdlim4 |
G |
T |
11: 53,947,130 (GRCm39) |
S56R |
probably benign |
Het |
Poc5 |
T |
C |
13: 96,538,139 (GRCm39) |
V268A |
probably benign |
Het |
Sec23b |
A |
C |
2: 144,401,157 (GRCm39) |
E6A |
probably damaging |
Het |
Sgsm1 |
A |
T |
5: 113,424,048 (GRCm39) |
|
probably benign |
Het |
Slc16a12 |
T |
A |
19: 34,650,084 (GRCm39) |
N317I |
possibly damaging |
Het |
Slc30a9 |
T |
G |
5: 67,473,173 (GRCm39) |
S86A |
probably benign |
Het |
Stxbp4 |
A |
G |
11: 90,512,475 (GRCm39) |
|
probably benign |
Het |
Tacr1 |
T |
C |
6: 82,380,636 (GRCm39) |
S16P |
probably benign |
Het |
Tmtc1 |
A |
C |
6: 148,147,285 (GRCm39) |
V804G |
possibly damaging |
Het |
Ttc7b |
A |
G |
12: 100,321,371 (GRCm39) |
F587L |
probably benign |
Het |
Vmn2r86 |
A |
T |
10: 130,288,855 (GRCm39) |
D215E |
probably damaging |
Het |
|
Other mutations in Slc1a7 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02643:Slc1a7
|
APN |
4 |
107,869,497 (GRCm39) |
missense |
possibly damaging |
0.86 |
IGL03146:Slc1a7
|
APN |
4 |
107,850,189 (GRCm39) |
missense |
probably damaging |
0.98 |
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 |
2013-11-05 |