Incidental Mutation 'R6117:Slc1a6'
| ID |
485168 |
| 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 |
044266-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.085)
|
| Stock # |
R6117 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
78616330-78650599 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 78624822 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 76
(Y76H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151544
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005490]
[ENSMUST00000217717]
|
| AlphaFold |
O35544 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000005490
AA Change: Y76H
PolyPhen 2
Score 0.350 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000005490
Gene: ENSMUSG00000005357
AA Change: Y76H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
27 |
43 |
N/A |
INTRINSIC |
|
Pfam:SDF
|
55 |
519 |
8.5e-129 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000217717
AA Change: Y76H
PolyPhen 2
Score 0.723 (Sensitivity: 0.86; Specificity: 0.92)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.4%
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl1 |
A |
G |
7: 76,348,534 (GRCm39) |
Y625C |
probably damaging |
Het |
| Ankmy1 |
A |
G |
1: 92,788,996 (GRCm39) |
|
probably benign |
Het |
| Apmap |
T |
C |
2: 150,442,252 (GRCm39) |
T41A |
probably benign |
Het |
| Cacna1a |
A |
G |
8: 85,341,350 (GRCm39) |
Y1804C |
probably damaging |
Het |
| Cacna1e |
A |
T |
1: 154,437,537 (GRCm39) |
I333N |
possibly damaging |
Het |
| Cdsn |
C |
A |
17: 35,865,931 (GRCm39) |
S153R |
unknown |
Het |
| Celsr1 |
A |
T |
15: 85,816,612 (GRCm39) |
M1777K |
probably benign |
Het |
| Cmtr1 |
A |
G |
17: 29,901,139 (GRCm39) |
M249V |
probably benign |
Het |
| Cmya5 |
A |
G |
13: 93,231,674 (GRCm39) |
L1138P |
probably damaging |
Het |
| Crim1 |
A |
C |
17: 78,610,517 (GRCm39) |
D324A |
probably damaging |
Het |
| Dmap1 |
T |
A |
4: 117,532,732 (GRCm39) |
|
probably null |
Het |
| Dnah17 |
T |
C |
11: 118,010,397 (GRCm39) |
Y307C |
probably benign |
Het |
| Dnah5 |
T |
A |
15: 28,270,566 (GRCm39) |
L956H |
probably damaging |
Het |
| Enpp3 |
C |
T |
10: 24,663,750 (GRCm39) |
S537N |
probably damaging |
Het |
| Eya3 |
T |
A |
4: 132,439,173 (GRCm39) |
L323Q |
probably damaging |
Het |
| Fads3 |
A |
T |
19: 10,031,631 (GRCm39) |
H226L |
probably damaging |
Het |
| Flrt3 |
T |
A |
2: 140,502,365 (GRCm39) |
D421V |
possibly damaging |
Het |
| Frmd4a |
T |
C |
2: 4,607,060 (GRCm39) |
V370A |
possibly damaging |
Het |
| Gapvd1 |
T |
C |
2: 34,580,471 (GRCm39) |
|
probably null |
Het |
| Gm2178 |
T |
C |
14: 26,235,995 (GRCm39) |
|
probably benign |
Het |
| Gm5592 |
A |
G |
7: 40,937,888 (GRCm39) |
N390S |
probably benign |
Het |
| Hoxa10 |
T |
A |
6: 52,211,800 (GRCm39) |
R39* |
probably null |
Het |
| Kcnj1 |
A |
G |
9: 32,308,478 (GRCm39) |
T281A |
probably damaging |
Het |
| Myo10 |
T |
C |
15: 25,805,745 (GRCm39) |
Y1709H |
probably benign |
Het |
| Nacad |
T |
C |
11: 6,549,810 (GRCm39) |
D1127G |
probably benign |
Het |
| Naip1 |
T |
A |
13: 100,581,245 (GRCm39) |
M1L |
probably damaging |
Het |
| Or10ak9 |
A |
T |
4: 118,726,341 (GRCm39) |
Y121F |
probably benign |
Het |
| Or6c215 |
G |
A |
10: 129,637,689 (GRCm39) |
A235V |
probably damaging |
Het |
| Or6c215 |
C |
A |
10: 129,637,690 (GRCm39) |
A235S |
probably damaging |
Het |
| Pcdhb12 |
G |
A |
18: 37,568,695 (GRCm39) |
|
probably benign |
Het |
| Pde1b |
T |
C |
15: 103,429,909 (GRCm39) |
V134A |
probably damaging |
Het |
| Plxnb2 |
A |
T |
15: 89,042,203 (GRCm39) |
D1600E |
probably benign |
Het |
| Prss54 |
T |
A |
8: 96,292,086 (GRCm39) |
|
probably null |
Het |
| Ryr3 |
A |
T |
2: 112,465,741 (GRCm39) |
I4757N |
probably damaging |
Het |
| Slco3a1 |
C |
T |
7: 73,968,254 (GRCm39) |
D489N |
probably benign |
Het |
| Sox15 |
G |
T |
11: 69,546,716 (GRCm39) |
G173V |
possibly damaging |
Het |
| Stard3 |
T |
C |
11: 98,263,088 (GRCm39) |
S48P |
probably damaging |
Het |
| Stk32c |
G |
A |
7: 138,702,839 (GRCm39) |
Q67* |
probably null |
Het |
| Svil |
T |
A |
18: 5,116,016 (GRCm39) |
W2101R |
probably damaging |
Het |
| Taar7e |
T |
A |
10: 23,914,427 (GRCm39) |
Y306N |
probably damaging |
Het |
| Tarbp1 |
T |
A |
8: 127,154,280 (GRCm39) |
M1485L |
probably benign |
Het |
| Togaram1 |
A |
G |
12: 65,014,261 (GRCm39) |
D504G |
probably damaging |
Het |
| Trrap |
T |
C |
5: 144,739,771 (GRCm39) |
L1091S |
possibly damaging |
Het |
| Unc80 |
A |
G |
1: 66,714,226 (GRCm39) |
E2856G |
possibly damaging |
Het |
| Usp47 |
C |
T |
7: 111,687,139 (GRCm39) |
T699M |
probably damaging |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGTGCCCTTACCCATATACAC -3'
(R):5'- GAGAAAGGGCTTCCATGATTGG -3'
Sequencing Primer
(F):5'- TGTGCCCTTACCCATATACACACAAG -3'
(R):5'- CCATGATTGGAGTAACCCTGGATC -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation