Incidental Mutation 'IGL02677:Slc1a6'
ID |
303183 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Slc1a6
|
Ensembl Gene |
ENSMUSG00000005357 |
Gene Name |
solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 |
Synonyms |
EAAT4 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.083)
|
Stock # |
IGL02677
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
78616330-78650599 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 78624898 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 101
(V101A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151544
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005490]
[ENSMUST00000217717]
|
AlphaFold |
O35544 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000005490
AA Change: V101A
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000005490 Gene: ENSMUSG00000005357 AA Change: V101A
Domain | Start | End | E-Value | Type |
low complexity region
|
27 |
43 |
N/A |
INTRINSIC |
Pfam:SDF
|
55 |
519 |
8.5e-129 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000217717
AA Change: V101A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for disruptions in this gene survive well and display no obvious abnormalities of behavior or brain structure. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931406B18Rik |
G |
T |
7: 43,150,519 (GRCm39) |
Y84* |
probably null |
Het |
Adam5 |
A |
G |
8: 25,302,395 (GRCm39) |
|
probably benign |
Het |
Aipl1 |
T |
C |
11: 71,920,222 (GRCm39) |
E282G |
possibly damaging |
Het |
Akp3 |
A |
G |
1: 87,052,994 (GRCm39) |
D61G |
probably damaging |
Het |
Anpep |
A |
G |
7: 79,488,478 (GRCm39) |
S451P |
probably damaging |
Het |
Csnka2ip |
A |
G |
16: 64,298,675 (GRCm39) |
L119P |
probably damaging |
Het |
Ddx19a |
T |
C |
8: 111,716,241 (GRCm39) |
E53G |
probably benign |
Het |
Ddx50 |
C |
T |
10: 62,452,072 (GRCm39) |
R116Q |
unknown |
Het |
Ddx60 |
A |
T |
8: 62,441,166 (GRCm39) |
E1078D |
probably damaging |
Het |
Dpy19l1 |
T |
C |
9: 24,396,368 (GRCm39) |
D116G |
probably damaging |
Het |
Dsg4 |
A |
G |
18: 20,597,933 (GRCm39) |
T668A |
possibly damaging |
Het |
Dspp |
A |
G |
5: 104,323,843 (GRCm39) |
T329A |
possibly damaging |
Het |
Eftud2 |
T |
C |
11: 102,737,440 (GRCm39) |
T554A |
probably damaging |
Het |
Enpp1 |
T |
C |
10: 24,555,083 (GRCm39) |
|
probably benign |
Het |
Ext2 |
A |
T |
2: 93,537,590 (GRCm39) |
F599I |
probably damaging |
Het |
Fahd1 |
A |
T |
17: 25,068,504 (GRCm39) |
I191N |
probably damaging |
Het |
Fcrl2 |
A |
T |
3: 87,166,694 (GRCm39) |
S100T |
probably benign |
Het |
Fras1 |
T |
A |
5: 96,692,883 (GRCm39) |
C181S |
probably damaging |
Het |
Garre1 |
T |
A |
7: 33,941,834 (GRCm39) |
|
probably benign |
Het |
Gcnt4 |
A |
G |
13: 97,083,741 (GRCm39) |
I346V |
probably benign |
Het |
Gfra1 |
G |
A |
19: 58,441,787 (GRCm39) |
T48I |
probably damaging |
Het |
Kcnma1 |
A |
G |
14: 23,513,224 (GRCm39) |
Y392H |
probably damaging |
Het |
Klc2 |
T |
C |
19: 5,161,696 (GRCm39) |
Y298C |
probably damaging |
Het |
Lamb3 |
G |
A |
1: 193,021,830 (GRCm39) |
V1011I |
probably benign |
Het |
Ldb1 |
T |
C |
19: 46,024,594 (GRCm39) |
|
probably benign |
Het |
Mcph1 |
A |
G |
8: 18,675,609 (GRCm39) |
K11E |
probably damaging |
Het |
Myc |
A |
G |
15: 61,861,513 (GRCm39) |
H374R |
probably damaging |
Het |
Myom1 |
A |
G |
17: 71,391,344 (GRCm39) |
Y853C |
probably damaging |
Het |
Or4k38 |
A |
T |
2: 111,166,147 (GRCm39) |
I92N |
probably damaging |
Het |
Pakap |
C |
T |
4: 57,856,263 (GRCm39) |
P572S |
probably benign |
Het |
Pclo |
A |
G |
5: 14,726,943 (GRCm39) |
|
probably benign |
Het |
Pde3a |
G |
A |
6: 141,350,898 (GRCm39) |
|
probably benign |
Het |
Per1 |
T |
C |
11: 68,997,486 (GRCm39) |
V887A |
probably benign |
Het |
Prokr1 |
G |
A |
6: 87,565,350 (GRCm39) |
|
probably benign |
Het |
Rb1cc1 |
A |
G |
1: 6,319,643 (GRCm39) |
I1021V |
probably benign |
Het |
Ryr1 |
T |
C |
7: 28,810,033 (GRCm39) |
E344G |
probably benign |
Het |
Sec24c |
A |
T |
14: 20,739,710 (GRCm39) |
D529V |
probably damaging |
Het |
Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
Tap2 |
G |
A |
17: 34,431,021 (GRCm39) |
V374M |
probably benign |
Het |
Tex15 |
T |
A |
8: 34,061,108 (GRCm39) |
D179E |
probably benign |
Het |
Tmem8b |
T |
C |
4: 43,686,092 (GRCm39) |
L241P |
probably damaging |
Het |
Tmprss11g |
T |
C |
5: 86,640,149 (GRCm39) |
D160G |
probably benign |
Het |
Trim30a |
C |
T |
7: 104,085,120 (GRCm39) |
C30Y |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,601,840 (GRCm39) |
|
probably benign |
Het |
Ush2a |
A |
G |
1: 188,466,882 (GRCm39) |
R2849G |
probably damaging |
Het |
Usp5 |
A |
G |
6: 124,796,389 (GRCm39) |
V570A |
probably damaging |
Het |
Vipr1 |
T |
C |
9: 121,489,349 (GRCm39) |
|
probably benign |
Het |
Zc2hc1c |
A |
C |
12: 85,336,850 (GRCm39) |
D169A |
probably benign |
Het |
|
Other mutations in Slc1a6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00335:Slc1a6
|
APN |
10 |
78,637,647 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00496:Slc1a6
|
APN |
10 |
78,629,142 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01099:Slc1a6
|
APN |
10 |
78,624,831 (GRCm39) |
missense |
possibly damaging |
0.67 |
IGL02299:Slc1a6
|
APN |
10 |
78,629,137 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02705:Slc1a6
|
APN |
10 |
78,637,788 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03024:Slc1a6
|
APN |
10 |
78,650,442 (GRCm39) |
missense |
probably benign |
|
IGL03185:Slc1a6
|
APN |
10 |
78,637,741 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03046:Slc1a6
|
UTSW |
10 |
78,636,008 (GRCm39) |
missense |
probably benign |
0.19 |
R0183:Slc1a6
|
UTSW |
10 |
78,627,067 (GRCm39) |
missense |
probably damaging |
1.00 |
R0373:Slc1a6
|
UTSW |
10 |
78,637,756 (GRCm39) |
nonsense |
probably null |
|
R0730:Slc1a6
|
UTSW |
10 |
78,631,842 (GRCm39) |
missense |
probably benign |
0.13 |
R0774:Slc1a6
|
UTSW |
10 |
78,648,658 (GRCm39) |
missense |
probably benign |
0.03 |
R0838:Slc1a6
|
UTSW |
10 |
78,632,056 (GRCm39) |
missense |
probably damaging |
1.00 |
R1449:Slc1a6
|
UTSW |
10 |
78,635,951 (GRCm39) |
missense |
probably damaging |
0.99 |
R1822:Slc1a6
|
UTSW |
10 |
78,648,765 (GRCm39) |
nonsense |
probably null |
|
R1853:Slc1a6
|
UTSW |
10 |
78,648,758 (GRCm39) |
missense |
probably damaging |
0.97 |
R1854:Slc1a6
|
UTSW |
10 |
78,648,758 (GRCm39) |
missense |
probably damaging |
0.97 |
R1855:Slc1a6
|
UTSW |
10 |
78,648,758 (GRCm39) |
missense |
probably damaging |
0.97 |
R1866:Slc1a6
|
UTSW |
10 |
78,627,183 (GRCm39) |
missense |
probably damaging |
0.99 |
R2073:Slc1a6
|
UTSW |
10 |
78,635,964 (GRCm39) |
missense |
possibly damaging |
0.93 |
R2279:Slc1a6
|
UTSW |
10 |
78,624,882 (GRCm39) |
missense |
probably benign |
0.12 |
R2360:Slc1a6
|
UTSW |
10 |
78,648,718 (GRCm39) |
missense |
possibly damaging |
0.91 |
R2939:Slc1a6
|
UTSW |
10 |
78,650,448 (GRCm39) |
makesense |
probably null |
|
R3111:Slc1a6
|
UTSW |
10 |
78,624,915 (GRCm39) |
missense |
probably damaging |
0.99 |
R3926:Slc1a6
|
UTSW |
10 |
78,648,715 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4116:Slc1a6
|
UTSW |
10 |
78,623,723 (GRCm39) |
missense |
probably benign |
0.00 |
R4798:Slc1a6
|
UTSW |
10 |
78,635,952 (GRCm39) |
missense |
probably damaging |
1.00 |
R4916:Slc1a6
|
UTSW |
10 |
78,632,085 (GRCm39) |
missense |
probably damaging |
1.00 |
R5054:Slc1a6
|
UTSW |
10 |
78,650,436 (GRCm39) |
missense |
probably damaging |
1.00 |
R5166:Slc1a6
|
UTSW |
10 |
78,632,103 (GRCm39) |
critical splice donor site |
probably null |
|
R5304:Slc1a6
|
UTSW |
10 |
78,629,141 (GRCm39) |
missense |
probably damaging |
1.00 |
R5367:Slc1a6
|
UTSW |
10 |
78,623,637 (GRCm39) |
missense |
probably damaging |
1.00 |
R5554:Slc1a6
|
UTSW |
10 |
78,631,816 (GRCm39) |
missense |
probably benign |
0.00 |
R5635:Slc1a6
|
UTSW |
10 |
78,624,925 (GRCm39) |
missense |
possibly damaging |
0.67 |
R5773:Slc1a6
|
UTSW |
10 |
78,629,111 (GRCm39) |
splice site |
probably null |
|
R6117:Slc1a6
|
UTSW |
10 |
78,624,822 (GRCm39) |
missense |
possibly damaging |
0.72 |
R6167:Slc1a6
|
UTSW |
10 |
78,637,671 (GRCm39) |
missense |
probably benign |
0.40 |
R6174:Slc1a6
|
UTSW |
10 |
78,637,741 (GRCm39) |
missense |
probably damaging |
1.00 |
R6221:Slc1a6
|
UTSW |
10 |
78,635,910 (GRCm39) |
missense |
probably damaging |
0.98 |
R6323:Slc1a6
|
UTSW |
10 |
78,648,721 (GRCm39) |
missense |
probably damaging |
1.00 |
R6339:Slc1a6
|
UTSW |
10 |
78,635,919 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6670:Slc1a6
|
UTSW |
10 |
78,623,646 (GRCm39) |
missense |
probably benign |
0.00 |
R7166:Slc1a6
|
UTSW |
10 |
78,648,646 (GRCm39) |
missense |
possibly damaging |
0.96 |
R7292:Slc1a6
|
UTSW |
10 |
78,650,438 (GRCm39) |
missense |
possibly damaging |
0.84 |
R7548:Slc1a6
|
UTSW |
10 |
78,650,265 (GRCm39) |
missense |
probably damaging |
1.00 |
R7779:Slc1a6
|
UTSW |
10 |
78,631,789 (GRCm39) |
missense |
probably damaging |
0.96 |
R7843:Slc1a6
|
UTSW |
10 |
78,632,094 (GRCm39) |
missense |
probably damaging |
1.00 |
R8068:Slc1a6
|
UTSW |
10 |
78,648,706 (GRCm39) |
missense |
possibly damaging |
0.96 |
R8190:Slc1a6
|
UTSW |
10 |
78,627,067 (GRCm39) |
missense |
probably damaging |
1.00 |
R8210:Slc1a6
|
UTSW |
10 |
78,632,091 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8846:Slc1a6
|
UTSW |
10 |
78,637,781 (GRCm39) |
missense |
probably damaging |
1.00 |
R9216:Slc1a6
|
UTSW |
10 |
78,637,692 (GRCm39) |
missense |
probably damaging |
1.00 |
R9660:Slc1a6
|
UTSW |
10 |
78,648,698 (GRCm39) |
missense |
probably benign |
0.06 |
R9798:Slc1a6
|
UTSW |
10 |
78,629,167 (GRCm39) |
critical splice donor site |
probably null |
|
Z1176:Slc1a6
|
UTSW |
10 |
78,631,909 (GRCm39) |
missense |
possibly damaging |
0.65 |
Z1177:Slc1a6
|
UTSW |
10 |
78,648,728 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Slc1a6
|
UTSW |
10 |
78,627,101 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
Posted On |
2015-04-16 |