Incidental Mutation 'R8068:Slc1a6'
| ID |
620116 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc1a6
|
| Ensembl Gene |
ENSMUSG00000005357 |
| Gene Name |
solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 |
| Synonyms |
EAAT4 |
| MMRRC Submission |
067503-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.083)
|
| Stock # |
R8068 (G1)
|
| Quality Score |
110.008 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
78616330-78650599 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 78648706 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 476
(V476L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000005490
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005490]
|
| AlphaFold |
O35544 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000005490
AA Change: V476L
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000005490
Gene: ENSMUSG00000005357
AA Change: V476L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
27 |
43 |
N/A |
INTRINSIC |
|
Pfam:SDF
|
55 |
519 |
8.5e-129 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam39 |
T |
A |
8: 41,278,975 (GRCm39) |
D455E |
not run |
Het |
| Aldoc |
T |
C |
11: 78,215,553 (GRCm39) |
F79S |
possibly damaging |
Het |
| Atmin |
A |
G |
8: 117,683,389 (GRCm39) |
S350G |
probably benign |
Het |
| Bms1 |
A |
G |
6: 118,390,711 (GRCm39) |
F206S |
probably damaging |
Het |
| Carmil1 |
T |
A |
13: 24,259,711 (GRCm39) |
I698L |
probably benign |
Het |
| Cd47 |
T |
A |
16: 49,715,779 (GRCm39) |
S182T |
|
Het |
| Ces2e |
G |
T |
8: 105,659,629 (GRCm39) |
|
probably null |
Het |
| Cfap251 |
A |
G |
5: 123,394,229 (GRCm39) |
S373G |
not run |
Het |
| Cit |
C |
A |
5: 116,090,525 (GRCm39) |
H906Q |
probably damaging |
Het |
| Cit |
T |
C |
5: 116,120,294 (GRCm39) |
S1370P |
probably benign |
Het |
| Dchs2 |
T |
C |
3: 83,207,745 (GRCm39) |
F1739L |
probably benign |
Het |
| Dlx4 |
T |
C |
11: 95,036,156 (GRCm39) |
Y51C |
possibly damaging |
Het |
| Drosha |
T |
A |
15: 12,883,276 (GRCm39) |
Y796* |
probably null |
Het |
| Elf1 |
T |
A |
14: 79,773,830 (GRCm39) |
F14I |
probably benign |
Het |
| Fam135b |
T |
C |
15: 71,404,827 (GRCm39) |
Q73R |
probably damaging |
Het |
| Gatad1 |
T |
C |
5: 3,693,540 (GRCm39) |
R210G |
probably benign |
Het |
| Gls2 |
C |
G |
10: 128,030,983 (GRCm39) |
R81G |
unknown |
Het |
| Hnrnpll |
T |
C |
17: 80,358,281 (GRCm39) |
M157V |
possibly damaging |
Het |
| Itgb3 |
T |
A |
11: 104,556,337 (GRCm39) |
M726K |
probably benign |
Het |
| Kcna10 |
T |
G |
3: 107,101,726 (GRCm39) |
M119R |
possibly damaging |
Het |
| Kcnh1 |
A |
G |
1: 191,924,250 (GRCm39) |
T155A |
probably benign |
Het |
| Kctd9 |
T |
A |
14: 67,962,111 (GRCm39) |
D51E |
unknown |
Het |
| Lgr6 |
T |
C |
1: 134,991,402 (GRCm39) |
I129V |
probably benign |
Het |
| Lrrfip1 |
A |
T |
1: 91,055,824 (GRCm39) |
D598V |
probably damaging |
Het |
| Ltbp4 |
G |
T |
7: 27,023,593 (GRCm39) |
Q850K |
probably damaging |
Het |
| Mdm1 |
A |
G |
10: 117,982,709 (GRCm39) |
R115G |
possibly damaging |
Het |
| Mns1 |
A |
C |
9: 72,355,809 (GRCm39) |
|
probably null |
Het |
| Mthfs |
G |
A |
9: 89,093,288 (GRCm39) |
R14Q |
probably damaging |
Het |
| Muc2 |
T |
A |
7: 141,298,422 (GRCm39) |
S25T |
|
Het |
| Ncapd3 |
T |
C |
9: 26,974,657 (GRCm39) |
S710P |
possibly damaging |
Het |
| Nrip1 |
T |
A |
16: 76,089,841 (GRCm39) |
H572L |
possibly damaging |
Het |
| Nrp2 |
C |
T |
1: 62,784,567 (GRCm39) |
R239C |
probably damaging |
Het |
| Opa3 |
A |
G |
7: 18,978,910 (GRCm39) |
E125G |
probably damaging |
Het |
| Or52p1 |
T |
A |
7: 104,267,460 (GRCm39) |
C191* |
probably null |
Het |
| Or5ap2 |
A |
G |
2: 85,680,150 (GRCm39) |
E118G |
probably damaging |
Het |
| Or5w19 |
A |
G |
2: 87,698,995 (GRCm39) |
Y220C |
probably benign |
Het |
| P3h1 |
A |
G |
4: 119,094,059 (GRCm39) |
Y238C |
probably damaging |
Het |
| Pappa2 |
T |
C |
1: 158,763,555 (GRCm39) |
D652G |
possibly damaging |
Het |
| Pcdha11 |
T |
A |
18: 37,138,618 (GRCm39) |
N82K |
probably damaging |
Het |
| Pde4b |
T |
C |
4: 102,453,212 (GRCm39) |
I293T |
probably damaging |
Het |
| Prrc2c |
TTGCTGCTGCTGCTGCTGCTGCTGCTGC |
TTGCTGCTGCTGCTGCTGCTGCTGC |
1: 162,536,630 (GRCm39) |
|
probably benign |
Het |
| Qki |
T |
C |
17: 10,537,732 (GRCm39) |
D24G |
possibly damaging |
Het |
| Rbpjl |
A |
G |
2: 164,250,438 (GRCm39) |
K197E |
possibly damaging |
Het |
| Rnf111 |
A |
T |
9: 70,365,223 (GRCm39) |
S415T |
probably benign |
Het |
| Scyl1 |
A |
G |
19: 5,810,853 (GRCm39) |
V488A |
probably damaging |
Het |
| Slc22a17 |
A |
T |
14: 55,146,365 (GRCm39) |
F84I |
probably benign |
Het |
| Slc22a4 |
A |
C |
11: 53,888,269 (GRCm39) |
I253S |
possibly damaging |
Het |
| Speer2 |
T |
C |
16: 69,657,412 (GRCm39) |
H77R |
possibly damaging |
Het |
| Speg |
T |
C |
1: 75,398,894 (GRCm39) |
S2114P |
probably damaging |
Het |
| Synpo2 |
T |
A |
3: 122,911,041 (GRCm39) |
R201S |
possibly damaging |
Het |
| Ttpa |
C |
A |
4: 20,028,419 (GRCm39) |
H225Q |
probably damaging |
Het |
| Vmn1r45 |
A |
T |
6: 89,910,261 (GRCm39) |
H236Q |
possibly damaging |
Het |
| Vmn2r7 |
A |
T |
3: 64,623,507 (GRCm39) |
V271D |
probably benign |
Het |
| Zfp53 |
A |
T |
17: 21,729,274 (GRCm39) |
T436S |
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 |
|
IGL02677:Slc1a6
|
APN |
10 |
78,624,898 (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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGCATCACACATTTTGCTTTCATG -3'
(R):5'- TAGAGAGCCATCCCAATGCCTC -3'
Sequencing Primer
(F):5'- CACATTTTGCTTTCATGATGTCAAC -3'
(R):5'- ATGCCTCCCTCACCATCTAAC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation