Incidental Mutation 'R7843:Slc1a6'
| ID |
606457 |
| 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 |
045897-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.083)
|
| Stock # |
R7843 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
78616330-78650599 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 78632094 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 307
(I307F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000005490
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005490]
[ENSMUST00000217717]
|
| AlphaFold |
O35544 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000005490
AA Change: I307F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000005490
Gene: ENSMUSG00000005357
AA Change: I307F
| 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 benign
Transcript: ENSMUST00000217717
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf1 |
T |
C |
17: 36,270,135 (GRCm39) |
D641G |
possibly damaging |
Het |
| Adam1b |
A |
T |
5: 121,639,500 (GRCm39) |
I515N |
probably damaging |
Het |
| Adamtsl5 |
A |
G |
10: 80,178,757 (GRCm39) |
V207A |
probably damaging |
Het |
| Ampd3 |
A |
G |
7: 110,390,395 (GRCm39) |
I143V |
probably benign |
Het |
| Ank3 |
A |
T |
10: 69,822,788 (GRCm39) |
T486S |
probably benign |
Het |
| Bcl11a |
A |
G |
11: 24,114,831 (GRCm39) |
I725V |
probably benign |
Het |
| Blmh |
A |
G |
11: 76,837,139 (GRCm39) |
N29D |
probably damaging |
Het |
| C6 |
T |
A |
15: 4,837,886 (GRCm39) |
V832D |
|
Het |
| Ccdc191 |
T |
A |
16: 43,779,699 (GRCm39) |
L777M |
probably damaging |
Het |
| Ccdc74a |
C |
G |
16: 17,464,613 (GRCm39) |
H45Q |
|
Het |
| Cenpe |
T |
A |
3: 134,938,720 (GRCm39) |
Y517* |
probably null |
Het |
| Cep290 |
G |
T |
10: 100,352,050 (GRCm39) |
R752L |
possibly damaging |
Het |
| Cers5 |
A |
T |
15: 99,670,212 (GRCm39) |
W17R |
unknown |
Het |
| Chpf |
T |
C |
1: 75,454,931 (GRCm39) |
|
probably benign |
Het |
| Chst5 |
C |
A |
8: 112,617,204 (GRCm39) |
A139S |
probably benign |
Het |
| Cpn1 |
T |
A |
19: 43,974,597 (GRCm39) |
D44V |
probably benign |
Het |
| Cstf1 |
T |
C |
2: 172,219,920 (GRCm39) |
Y344H |
probably damaging |
Het |
| D7Ertd443e |
A |
C |
7: 133,950,824 (GRCm39) |
M283R |
possibly damaging |
Het |
| Dclk1 |
T |
A |
3: 55,163,298 (GRCm39) |
V130D |
probably damaging |
Het |
| Dscam |
C |
T |
16: 96,626,830 (GRCm39) |
V360M |
probably damaging |
Het |
| Dvl2 |
A |
G |
11: 69,899,612 (GRCm39) |
N518S |
probably benign |
Het |
| Eif2ak2 |
T |
A |
17: 79,176,203 (GRCm39) |
K231N |
probably benign |
Het |
| Elovl4 |
T |
C |
9: 83,670,324 (GRCm39) |
R123G |
probably damaging |
Het |
| Ern2 |
A |
G |
7: 121,772,931 (GRCm39) |
V562A |
probably damaging |
Het |
| F13a1 |
A |
T |
13: 37,209,745 (GRCm39) |
N73K |
probably benign |
Het |
| Gcc2 |
C |
A |
10: 58,103,843 (GRCm39) |
Q90K |
possibly damaging |
Het |
| Gnpda1 |
A |
T |
18: 38,461,952 (GRCm39) |
S282T |
probably benign |
Het |
| Gpatch1 |
G |
T |
7: 34,980,879 (GRCm39) |
H880Q |
unknown |
Het |
| Haus6 |
T |
C |
4: 86,504,578 (GRCm39) |
D471G |
possibly damaging |
Het |
| Hcfc1r1 |
G |
T |
17: 23,893,630 (GRCm39) |
E70* |
probably null |
Het |
| Ighv1-54 |
A |
G |
12: 115,157,483 (GRCm39) |
W55R |
probably damaging |
Het |
| Jam3 |
T |
C |
9: 27,017,712 (GRCm39) |
|
probably null |
Het |
| Klhdc7a |
A |
T |
4: 139,694,155 (GRCm39) |
V264E |
possibly damaging |
Het |
| Lrrc4c |
A |
T |
2: 97,460,558 (GRCm39) |
T395S |
probably benign |
Het |
| Man2a2 |
G |
C |
7: 80,018,613 (GRCm39) |
A82G |
probably benign |
Het |
| Mast2 |
G |
T |
4: 116,210,208 (GRCm39) |
T186K |
probably damaging |
Het |
| Meig1 |
T |
A |
2: 3,410,248 (GRCm39) |
K84M |
probably damaging |
Het |
| Mep1b |
G |
T |
18: 21,228,110 (GRCm39) |
S571I |
probably damaging |
Het |
| Muc2 |
T |
G |
7: 141,281,662 (GRCm39) |
V507G |
probably benign |
Het |
| Nkx2-3 |
C |
A |
19: 43,603,321 (GRCm39) |
T309N |
probably benign |
Het |
| Oaf |
G |
A |
9: 43,134,077 (GRCm39) |
R215C |
probably damaging |
Het |
| Or1ad1 |
A |
T |
11: 50,875,845 (GRCm39) |
T106S |
probably benign |
Het |
| Or5b109 |
A |
T |
19: 13,211,901 (GRCm39) |
N96Y |
possibly damaging |
Het |
| Or8b1c |
T |
C |
9: 38,384,243 (GRCm39) |
S67P |
probably damaging |
Het |
| Pla2r1 |
T |
G |
2: 60,277,819 (GRCm39) |
T835P |
possibly damaging |
Het |
| Ppil6 |
C |
T |
10: 41,377,862 (GRCm39) |
T191I |
probably benign |
Het |
| Rps6ka5 |
T |
C |
12: 100,519,408 (GRCm39) |
D735G |
possibly damaging |
Het |
| Setx |
T |
A |
2: 29,063,581 (GRCm39) |
N2292K |
probably damaging |
Het |
| Slc5a3 |
T |
A |
16: 91,875,907 (GRCm39) |
W655R |
probably benign |
Het |
| Slc9a1 |
T |
C |
4: 133,097,753 (GRCm39) |
|
probably benign |
Het |
| Sptbn1 |
A |
G |
11: 30,104,320 (GRCm39) |
V128A |
probably damaging |
Het |
| Tenm3 |
T |
A |
8: 48,682,146 (GRCm39) |
K2495* |
probably null |
Het |
| Tnni3k |
T |
A |
3: 154,744,161 (GRCm39) |
T64S |
probably damaging |
Het |
| Top1 |
T |
C |
2: 160,556,176 (GRCm39) |
V545A |
possibly damaging |
Het |
| Trabd |
A |
G |
15: 88,966,157 (GRCm39) |
D38G |
possibly damaging |
Het |
| Tsbp1 |
C |
T |
17: 34,668,798 (GRCm39) |
T176I |
possibly damaging |
Het |
| Umad1 |
G |
A |
6: 8,401,140 (GRCm39) |
D70N |
unknown |
Het |
| Usp36 |
T |
C |
11: 118,176,791 (GRCm39) |
E9G |
probably damaging |
Het |
| Vmn2r53 |
A |
G |
7: 12,316,026 (GRCm39) |
S598P |
probably damaging |
Het |
| Vmn2r60 |
A |
T |
7: 41,844,511 (GRCm39) |
T625S |
probably benign |
Het |
| Vmn2r72 |
G |
A |
7: 85,398,838 (GRCm39) |
T505I |
probably benign |
Het |
| Vwce |
T |
A |
19: 10,641,647 (GRCm39) |
I791K |
probably benign |
Het |
| Wdr64 |
C |
A |
1: 175,639,668 (GRCm39) |
H1046N |
probably benign |
Het |
| Zdhhc4 |
A |
T |
5: 143,306,031 (GRCm39) |
D232E |
probably damaging |
Het |
| Zfp984 |
A |
T |
4: 147,842,165 (GRCm39) |
F51I |
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 |
|
|
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 |
|
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'- CTTTGAGGAGACTGTGCCTG -3'
(R):5'- TCTCTGAGACAATGCACAAATGAG -3'
Sequencing Primer
(F):5'- AGGAGACTGTGCCTGTACCTG -3'
(R):5'- GGTCATGAACAGATGAATAAATCACC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation