Incidental Mutation 'R7950:Slc1a1'
| ID |
649533 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc1a1
|
| Ensembl Gene |
ENSMUSG00000024935 |
| Gene Name |
solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1 |
| Synonyms |
D130048G10Rik, EAAC1, MEAAC1, EAAT3 |
| MMRRC Submission |
045995-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7950 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
28812535-28891360 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 28889161 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 478
(V478A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025875
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025875]
[ENSMUST00000175647]
[ENSMUST00000179171]
|
| AlphaFold |
P51906 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025875
AA Change: V478A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000025875
Gene: ENSMUSG00000024935
AA Change: V478A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SDF
|
20 |
464 |
2.3e-135 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175647
|
| SMART Domains |
Protein: ENSMUSP00000135813
Gene: ENSMUSG00000064202
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SPATA6
|
6 |
78 |
4.5e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179171
|
| SMART Domains |
Protein: ENSMUSP00000137486
Gene: ENSMUSG00000064202
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
36 |
58 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (47/47) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the high-affinity glutamate transporters that play an essential role in transporting glutamate across plasma membranes. In brain, these transporters are crucial in terminating the postsynaptic action of the neurotransmitter glutamate, and in maintaining extracellular glutamate concentrations below neurotoxic levels. This transporter also transports aspartate, and mutations in this gene are thought to cause dicarboxylicamino aciduria, also known as glutamate-aspartate transport defect. [provided by RefSeq, Mar 2010]
PHENOTYPE: Mice homozygous for disruptions in this gene display reduced locomotor activity and excessive excretion of glutamate and aspartate. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf5 |
G |
A |
17: 43,762,048 (GRCm39) |
V1248M |
probably damaging |
Het |
| Alb |
T |
C |
5: 90,620,323 (GRCm39) |
S478P |
probably damaging |
Het |
| Arhgap17 |
A |
G |
7: 122,886,039 (GRCm39) |
S698P |
probably benign |
Het |
| Arhgef5 |
A |
G |
6: 43,250,859 (GRCm39) |
T537A |
possibly damaging |
Het |
| Arl6 |
A |
T |
16: 59,439,094 (GRCm39) |
|
probably null |
Het |
| Atp13a4 |
A |
T |
16: 29,268,735 (GRCm39) |
W540R |
|
Het |
| Birc6 |
A |
T |
17: 74,900,095 (GRCm39) |
D1091V |
probably damaging |
Het |
| Bnc1 |
A |
G |
7: 81,623,250 (GRCm39) |
V659A |
probably benign |
Het |
| C130074G19Rik |
T |
C |
1: 184,606,571 (GRCm39) |
|
probably null |
Het |
| C1ql4 |
T |
A |
15: 98,982,693 (GRCm39) |
H220L |
probably benign |
Het |
| Cacna1s |
A |
G |
1: 136,028,363 (GRCm39) |
N1147S |
probably benign |
Het |
| Cc2d2a |
T |
C |
5: 43,852,638 (GRCm39) |
|
probably null |
Het |
| Ccl1 |
T |
A |
11: 82,070,519 (GRCm39) |
I18L |
probably benign |
Het |
| Cfap410 |
C |
T |
10: 77,815,601 (GRCm39) |
T31I |
probably damaging |
Het |
| Ecel1 |
A |
T |
1: 87,075,991 (GRCm39) |
Y729N |
probably damaging |
Het |
| Epha4 |
T |
A |
1: 77,483,833 (GRCm39) |
I59F |
probably damaging |
Het |
| Filip1l |
A |
G |
16: 57,390,074 (GRCm39) |
K221E |
probably damaging |
Het |
| Flnc |
A |
G |
6: 29,456,381 (GRCm39) |
E2193G |
possibly damaging |
Het |
| Galnt10 |
C |
G |
11: 57,674,549 (GRCm39) |
P513A |
probably damaging |
Het |
| Gm5624 |
A |
G |
14: 44,798,190 (GRCm39) |
Y139H |
|
Het |
| Golgb1 |
A |
C |
16: 36,735,786 (GRCm39) |
I1719L |
probably benign |
Het |
| Hsf1 |
T |
C |
15: 76,382,393 (GRCm39) |
S255P |
probably benign |
Het |
| Ighv2-2 |
T |
C |
12: 113,551,914 (GRCm39) |
D108G |
probably damaging |
Het |
| Iho1 |
T |
C |
9: 108,282,870 (GRCm39) |
T273A |
probably benign |
Het |
| Kbtbd3 |
C |
T |
9: 4,316,878 (GRCm39) |
Q10* |
probably null |
Het |
| Kcnh2 |
C |
T |
5: 24,538,034 (GRCm39) |
V110M |
probably benign |
Het |
| Magi3 |
A |
C |
3: 103,924,005 (GRCm39) |
L1112W |
probably damaging |
Het |
| Malrd1 |
T |
A |
2: 16,132,879 (GRCm39) |
D1933E |
unknown |
Het |
| Mki67 |
G |
A |
7: 135,301,453 (GRCm39) |
R1194* |
probably null |
Het |
| Nap1l1 |
T |
C |
10: 111,328,769 (GRCm39) |
Y233H |
probably damaging |
Het |
| Napsa |
A |
G |
7: 44,234,758 (GRCm39) |
I298V |
probably benign |
Het |
| Nkx6-1 |
A |
T |
5: 101,811,465 (GRCm39) |
S212R |
probably damaging |
Het |
| Nlrc4 |
A |
T |
17: 74,752,610 (GRCm39) |
I591N |
probably damaging |
Het |
| Or5b114-ps1 |
T |
C |
19: 13,352,431 (GRCm39) |
I35T |
possibly damaging |
Het |
| Orc2 |
T |
C |
1: 58,506,827 (GRCm39) |
D503G |
possibly damaging |
Het |
| Osbp |
T |
A |
19: 11,955,612 (GRCm39) |
S343T |
probably benign |
Het |
| Pcdha6 |
T |
G |
18: 37,102,479 (GRCm39) |
D557E |
probably damaging |
Het |
| Pdcd11 |
AGAGGAGGAGGAGGAGGAGGAGGAG |
AGAGGAGGAGGAGGAGGAGGAG |
19: 47,101,876 (GRCm39) |
|
probably benign |
Het |
| Ppdpf |
A |
G |
2: 180,829,650 (GRCm39) |
Y35C |
probably benign |
Het |
| Scrn2 |
T |
A |
11: 96,921,755 (GRCm39) |
L75Q |
probably damaging |
Het |
| Scube3 |
G |
A |
17: 28,390,200 (GRCm39) |
V955I |
probably benign |
Het |
| Slc4a4 |
A |
G |
5: 89,206,137 (GRCm39) |
|
probably null |
Het |
| Srrm2 |
T |
C |
17: 24,027,084 (GRCm39) |
L96P |
unknown |
Het |
| Strn |
A |
T |
17: 78,977,852 (GRCm39) |
L175Q |
|
Het |
|
| Other mutations in Slc1a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02170:Slc1a1
|
APN |
19 |
28,880,153 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL02726:Slc1a1
|
APN |
19 |
28,889,169 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02865:Slc1a1
|
APN |
19 |
28,882,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0008:Slc1a1
|
UTSW |
19 |
28,878,884 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0008:Slc1a1
|
UTSW |
19 |
28,878,884 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0490:Slc1a1
|
UTSW |
19 |
28,874,931 (GRCm39) |
missense |
probably benign |
|
|
R1219:Slc1a1
|
UTSW |
19 |
28,882,146 (GRCm39) |
splice site |
probably benign |
|
|
R1333:Slc1a1
|
UTSW |
19 |
28,812,611 (GRCm39) |
start gained |
probably benign |
|
|
R1623:Slc1a1
|
UTSW |
19 |
28,882,122 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1669:Slc1a1
|
UTSW |
19 |
28,889,194 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1746:Slc1a1
|
UTSW |
19 |
28,871,869 (GRCm39) |
missense |
probably benign |
0.31 |
|
R2516:Slc1a1
|
UTSW |
19 |
28,870,312 (GRCm39) |
missense |
probably benign |
0.31 |
|
R4198:Slc1a1
|
UTSW |
19 |
28,878,852 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4199:Slc1a1
|
UTSW |
19 |
28,878,852 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4200:Slc1a1
|
UTSW |
19 |
28,878,852 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4432:Slc1a1
|
UTSW |
19 |
28,880,109 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4744:Slc1a1
|
UTSW |
19 |
28,871,925 (GRCm39) |
missense |
probably benign |
|
|
R5110:Slc1a1
|
UTSW |
19 |
28,889,208 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5341:Slc1a1
|
UTSW |
19 |
28,874,968 (GRCm39) |
missense |
probably benign |
|
|
R6136:Slc1a1
|
UTSW |
19 |
28,882,810 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6153:Slc1a1
|
UTSW |
19 |
28,886,935 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6640:Slc1a1
|
UTSW |
19 |
28,871,970 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8182:Slc1a1
|
UTSW |
19 |
28,878,848 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8534:Slc1a1
|
UTSW |
19 |
28,882,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8962:Slc1a1
|
UTSW |
19 |
28,886,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9222:Slc1a1
|
UTSW |
19 |
28,882,794 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9383:Slc1a1
|
UTSW |
19 |
28,889,125 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9513:Slc1a1
|
UTSW |
19 |
28,812,734 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9655:Slc1a1
|
UTSW |
19 |
28,870,283 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9773:Slc1a1
|
UTSW |
19 |
28,870,283 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9774:Slc1a1
|
UTSW |
19 |
28,870,283 (GRCm39) |
missense |
probably damaging |
0.98 |
|
RF020:Slc1a1
|
UTSW |
19 |
28,856,555 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCCCTTTAGAAACCACCCTCTG -3'
(R):5'- ATCCCAGGCCTCAATCTGAG -3'
Sequencing Primer
(F):5'- TTCCTTTCTCCATACGACAGAGGAG -3'
(R):5'- TCAATCTGAGGTCAGGCATC -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation