Incidental Mutation 'R6072:Slc1a3'
| ID |
482552 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc1a3
|
| Ensembl Gene |
ENSMUSG00000005360 |
| Gene Name |
solute carrier family 1 (glial high affinity glutamate transporter), member 3 |
| Synonyms |
Gmt1, MGluT1, B430115D02Rik, Eaat1, GLAST |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6072 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
8663608-8740248 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 8738052 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 59
(I59F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118902
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005493]
[ENSMUST00000157065]
|
| AlphaFold |
P56564 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000005493
AA Change: I59F
PolyPhen 2
Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000005493
Gene: ENSMUSG00000005360
AA Change: I59F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SDF
|
50 |
497 |
8.5e-135 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126747
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129325
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133309
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153455
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000157065
AA Change: I59F
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000118902
Gene: ENSMUSG00000005360
AA Change: I59F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SDF
|
50 |
119 |
4.7e-12 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a member of a high affinity glutamate transporter family. This gene functions in the termination of excitatory neurotransmission in central nervous system. Mutations are associated with episodic ataxia, Type 6. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2014]
PHENOTYPE: Mice homozygous for disruptions in this gene display no abnormalities with respect to appearance or survival but do display functional abnormalities related to the central nervous system. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700093K21Rik |
A |
T |
11: 23,467,357 (GRCm39) |
M92K |
probably benign |
Het |
| Abca15 |
T |
A |
7: 119,987,481 (GRCm39) |
C1256S |
probably damaging |
Het |
| Asic2 |
A |
G |
11: 80,784,914 (GRCm39) |
S291P |
probably damaging |
Het |
| Asph |
A |
G |
4: 9,643,533 (GRCm39) |
|
probably null |
Het |
| Ccdc57 |
T |
A |
11: 120,792,901 (GRCm39) |
K284N |
probably damaging |
Het |
| Cfap210 |
A |
T |
2: 69,602,402 (GRCm39) |
D336E |
probably benign |
Het |
| Dnm3 |
CAGCCTTCGTTGGGTG |
C |
1: 161,838,637 (GRCm39) |
|
probably benign |
Het |
| Dop1a |
G |
A |
9: 86,389,750 (GRCm39) |
S558N |
probably benign |
Het |
| F830045P16Rik |
T |
A |
2: 129,314,614 (GRCm39) |
Q221L |
probably damaging |
Het |
| Gm10146 |
A |
G |
10: 78,229,332 (GRCm39) |
|
noncoding transcript |
Het |
| Gys2 |
T |
G |
6: 142,374,263 (GRCm39) |
D594A |
probably damaging |
Het |
| Irf9 |
A |
G |
14: 55,843,284 (GRCm39) |
E114G |
probably damaging |
Het |
| Itpr2 |
T |
G |
6: 146,248,609 (GRCm39) |
K1082T |
probably damaging |
Het |
| Krt14 |
C |
T |
11: 100,097,992 (GRCm39) |
G97D |
unknown |
Het |
| Lmo7 |
A |
T |
14: 102,166,772 (GRCm39) |
|
probably benign |
Het |
| Nckap5l |
A |
T |
15: 99,324,535 (GRCm39) |
L656Q |
probably damaging |
Het |
| Ndufs8 |
T |
C |
19: 3,959,275 (GRCm39) |
T129A |
probably damaging |
Het |
| Nosip |
G |
A |
7: 44,726,072 (GRCm39) |
V187M |
possibly damaging |
Het |
| Or4l1 |
A |
T |
14: 50,166,606 (GRCm39) |
Y132N |
probably damaging |
Het |
| Or7g18 |
G |
A |
9: 18,786,718 (GRCm39) |
V29I |
probably benign |
Het |
| Phf3 |
A |
C |
1: 30,869,769 (GRCm39) |
N426K |
probably benign |
Het |
| Plekha6 |
G |
C |
1: 133,200,045 (GRCm39) |
R208P |
possibly damaging |
Het |
| Pphln1-ps1 |
T |
C |
16: 13,495,353 (GRCm39) |
S151P |
probably damaging |
Het |
| Ptpru |
A |
G |
4: 131,503,539 (GRCm39) |
S1164P |
probably damaging |
Het |
| Rcan1 |
T |
C |
16: 92,262,815 (GRCm39) |
D51G |
probably benign |
Het |
| Rem1 |
A |
G |
2: 152,476,437 (GRCm39) |
T232A |
probably benign |
Het |
| Slc23a4 |
T |
C |
6: 34,925,357 (GRCm39) |
K491E |
probably benign |
Het |
| Slc6a5 |
T |
A |
7: 49,561,943 (GRCm39) |
D158E |
probably damaging |
Het |
| Smarca4 |
A |
G |
9: 21,611,417 (GRCm39) |
N1510S |
probably damaging |
Het |
| Taf1d |
T |
C |
9: 15,222,856 (GRCm39) |
S241P |
probably benign |
Het |
| Thada |
T |
C |
17: 84,499,434 (GRCm39) |
D1921G |
possibly damaging |
Het |
| Tmem147 |
A |
T |
7: 30,427,445 (GRCm39) |
M99K |
possibly damaging |
Het |
| Tulp1 |
T |
C |
17: 28,582,758 (GRCm39) |
E130G |
possibly damaging |
Het |
| Tyw1 |
T |
C |
5: 130,296,752 (GRCm39) |
V123A |
possibly damaging |
Het |
| Wdr75 |
T |
C |
1: 45,838,211 (GRCm39) |
V40A |
probably damaging |
Het |
| Zfp683 |
T |
C |
4: 133,783,057 (GRCm39) |
Y174H |
probably benign |
Het |
|
| Other mutations in Slc1a3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01133:Slc1a3
|
APN |
15 |
8,680,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01133:Slc1a3
|
APN |
15 |
8,675,171 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01696:Slc1a3
|
APN |
15 |
8,671,822 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL03108:Slc1a3
|
APN |
15 |
8,668,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0128:Slc1a3
|
UTSW |
15 |
8,665,693 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0206:Slc1a3
|
UTSW |
15 |
8,738,040 (GRCm39) |
splice site |
probably benign |
|
|
R0312:Slc1a3
|
UTSW |
15 |
8,665,721 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0385:Slc1a3
|
UTSW |
15 |
8,668,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0538:Slc1a3
|
UTSW |
15 |
8,680,406 (GRCm39) |
missense |
probably benign |
|
|
R0579:Slc1a3
|
UTSW |
15 |
8,717,793 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1799:Slc1a3
|
UTSW |
15 |
8,717,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2029:Slc1a3
|
UTSW |
15 |
8,675,153 (GRCm39) |
missense |
probably benign |
0.29 |
|
R3236:Slc1a3
|
UTSW |
15 |
8,668,607 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4494:Slc1a3
|
UTSW |
15 |
8,668,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5010:Slc1a3
|
UTSW |
15 |
8,680,330 (GRCm39) |
splice site |
probably benign |
|
|
R5154:Slc1a3
|
UTSW |
15 |
8,672,433 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5226:Slc1a3
|
UTSW |
15 |
8,671,709 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5538:Slc1a3
|
UTSW |
15 |
8,675,188 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6049:Slc1a3
|
UTSW |
15 |
8,675,177 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6496:Slc1a3
|
UTSW |
15 |
8,679,065 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7015:Slc1a3
|
UTSW |
15 |
8,679,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7168:Slc1a3
|
UTSW |
15 |
8,675,386 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7255:Slc1a3
|
UTSW |
15 |
8,672,483 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7476:Slc1a3
|
UTSW |
15 |
8,672,568 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7732:Slc1a3
|
UTSW |
15 |
8,680,472 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8041:Slc1a3
|
UTSW |
15 |
8,665,683 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8500:Slc1a3
|
UTSW |
15 |
8,671,853 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8525:Slc1a3
|
UTSW |
15 |
8,680,423 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8525:Slc1a3
|
UTSW |
15 |
8,672,459 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R8698:Slc1a3
|
UTSW |
15 |
8,668,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8966:Slc1a3
|
UTSW |
15 |
8,680,332 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9711:Slc1a3
|
UTSW |
15 |
8,675,177 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCATGTGTTCAGCTTCCAAC -3'
(R):5'- ACGCAAGGACGTGATAAATTCC -3'
Sequencing Primer
(F):5'- CCATGTGTTCAGCTTCCAACAAATG -3'
(R):5'- CAAGGACGTGATAAATTCCTAGAAAG -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation