Incidental Mutation 'R9660:Slc1a6'
ID |
727534 |
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 |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.083)
|
Stock # |
R9660 (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 A
at 78648698 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 473
(M473K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000005490
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005490]
|
AlphaFold |
O35544 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000005490
AA Change: M473K
PolyPhen 2
Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000005490 Gene: ENSMUSG00000005357 AA Change: M473K
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: 99.1%
|
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca14 |
A |
G |
7: 119,851,478 (GRCm39) |
M819V |
probably benign |
Het |
Abca5 |
T |
A |
11: 110,168,248 (GRCm39) |
T1461S |
possibly damaging |
Het |
Actl6b |
C |
T |
5: 137,562,766 (GRCm39) |
R161C |
probably damaging |
Het |
Aoc3 |
C |
G |
11: 101,221,914 (GRCm39) |
P50R |
possibly damaging |
Het |
Atr |
G |
A |
9: 95,797,050 (GRCm39) |
A1698T |
probably benign |
Het |
Caml |
T |
A |
13: 55,779,670 (GRCm39) |
S248T |
possibly damaging |
Het |
Cdh11 |
C |
T |
8: 103,384,879 (GRCm39) |
G399S |
possibly damaging |
Het |
Chrna10 |
G |
T |
7: 101,761,416 (GRCm39) |
L392I |
probably benign |
Het |
Clip2 |
C |
T |
5: 134,533,616 (GRCm39) |
R487Q |
probably benign |
Het |
Copg1 |
A |
G |
6: 87,879,225 (GRCm39) |
I424V |
probably damaging |
Het |
Cwh43 |
A |
T |
5: 73,565,629 (GRCm39) |
N65Y |
possibly damaging |
Het |
Defb1 |
A |
G |
8: 22,284,486 (GRCm39) |
Y35C |
probably damaging |
Het |
Disp2 |
T |
C |
2: 118,620,627 (GRCm39) |
V453A |
probably benign |
Het |
Dpp9 |
A |
G |
17: 56,494,458 (GRCm39) |
Y834H |
probably damaging |
Het |
Emsy |
A |
G |
7: 98,262,285 (GRCm39) |
I598T |
possibly damaging |
Het |
Entpd2 |
C |
T |
2: 25,288,153 (GRCm39) |
R126C |
probably damaging |
Het |
Fbxl17 |
A |
T |
17: 63,806,426 (GRCm39) |
M196K |
probably benign |
Het |
Gcc1 |
T |
C |
6: 28,420,544 (GRCm39) |
R258G |
probably damaging |
Het |
Gga2 |
A |
T |
7: 121,606,494 (GRCm39) |
M157K |
possibly damaging |
Het |
Gna11 |
T |
C |
10: 81,370,918 (GRCm39) |
N106S |
probably benign |
Het |
Gtf3c1 |
A |
C |
7: 125,262,199 (GRCm39) |
S1116A |
possibly damaging |
Het |
Gucy2d |
C |
A |
7: 98,099,064 (GRCm39) |
D294E |
probably damaging |
Het |
Igkv12-46 |
G |
T |
6: 69,741,967 (GRCm39) |
P4T |
possibly damaging |
Het |
Iqcf5 |
A |
T |
9: 106,393,168 (GRCm39) |
I142L |
probably damaging |
Het |
Klhdc9 |
A |
G |
1: 171,187,357 (GRCm39) |
S214P |
probably damaging |
Het |
Kmt2e |
T |
C |
5: 23,683,617 (GRCm39) |
Y292H |
probably damaging |
Het |
Lgr6 |
A |
G |
1: 134,915,245 (GRCm39) |
L778P |
probably damaging |
Het |
Lrrk2 |
A |
G |
15: 91,618,228 (GRCm39) |
N909S |
probably benign |
Het |
Ly75 |
A |
G |
2: 60,154,184 (GRCm39) |
S1088P |
probably damaging |
Het |
Mei1 |
G |
A |
15: 81,966,098 (GRCm39) |
G240D |
|
Het |
Miox |
A |
T |
15: 89,218,703 (GRCm39) |
|
probably benign |
Het |
Myo1e |
A |
G |
9: 70,223,924 (GRCm39) |
Y128C |
probably damaging |
Het |
Necab2 |
T |
C |
8: 120,189,403 (GRCm39) |
V191A |
possibly damaging |
Het |
Nlrp9a |
T |
A |
7: 26,256,915 (GRCm39) |
Y178N |
probably damaging |
Het |
Nr4a3 |
A |
G |
4: 48,051,353 (GRCm39) |
T36A |
probably benign |
Het |
Nup210l |
A |
G |
3: 90,105,402 (GRCm39) |
T1517A |
probably benign |
Het |
Nup210l |
C |
T |
3: 90,107,173 (GRCm39) |
P1570L |
probably benign |
Het |
Or4a27 |
T |
C |
2: 88,559,142 (GRCm39) |
K267R |
probably damaging |
Het |
Or4g17 |
T |
G |
2: 111,210,239 (GRCm39) |
I298R |
probably damaging |
Het |
Or4p23 |
T |
C |
2: 88,576,872 (GRCm39) |
Y120C |
probably damaging |
Het |
Or51h7 |
C |
T |
7: 102,591,259 (GRCm39) |
C175Y |
probably damaging |
Het |
Pcnx2 |
A |
T |
8: 126,487,592 (GRCm39) |
S1804T |
probably damaging |
Het |
Pdcd11 |
T |
A |
19: 47,082,191 (GRCm39) |
V35D |
possibly damaging |
Het |
Pde10a |
C |
A |
17: 9,170,370 (GRCm39) |
T347K |
probably damaging |
Het |
Rcc1l |
A |
G |
5: 134,182,977 (GRCm39) |
Y432H |
probably benign |
Het |
Rgs22 |
A |
T |
15: 36,040,856 (GRCm39) |
V1001E |
probably benign |
Het |
Ripor3 |
T |
A |
2: 167,831,646 (GRCm39) |
D385V |
probably damaging |
Het |
Rrbp1 |
T |
C |
2: 143,831,178 (GRCm39) |
K330E |
probably damaging |
Het |
Ryr3 |
T |
G |
2: 112,664,074 (GRCm39) |
D1759A |
probably benign |
Het |
Scube3 |
A |
G |
17: 28,371,414 (GRCm39) |
D43G |
probably benign |
Het |
Sec24b |
A |
G |
3: 129,790,422 (GRCm39) |
I701T |
probably damaging |
Het |
Setd5 |
G |
T |
6: 113,128,366 (GRCm39) |
V1440L |
probably benign |
Het |
Sik3 |
A |
G |
9: 46,106,142 (GRCm39) |
K337E |
possibly damaging |
Het |
Slc14a1 |
C |
A |
18: 78,152,807 (GRCm39) |
A367S |
probably damaging |
Het |
Spag16 |
A |
G |
1: 69,962,842 (GRCm39) |
R330G |
probably benign |
Het |
Spag6 |
C |
A |
2: 18,704,047 (GRCm39) |
Q32K |
probably benign |
Het |
Sspo |
G |
A |
6: 48,432,707 (GRCm39) |
G861D |
probably damaging |
Het |
Togaram2 |
T |
A |
17: 72,024,365 (GRCm39) |
S850T |
probably damaging |
Het |
Trbv15 |
A |
T |
6: 41,118,550 (GRCm39) |
E102V |
possibly damaging |
Het |
Trim43b |
G |
T |
9: 88,973,395 (GRCm39) |
H113N |
probably benign |
Het |
Trpm2 |
T |
A |
10: 77,766,389 (GRCm39) |
I877L |
probably benign |
Het |
Ttn |
T |
C |
2: 76,599,152 (GRCm39) |
I19286V |
probably benign |
Het |
Ttn |
C |
T |
2: 76,715,357 (GRCm39) |
E7912K |
unknown |
Het |
Tubb6 |
A |
G |
18: 67,534,671 (GRCm39) |
H190R |
probably benign |
Het |
Vmn1r214 |
T |
C |
13: 23,219,007 (GRCm39) |
V167A |
probably benign |
Het |
Vwf |
C |
A |
6: 125,568,670 (GRCm39) |
L398I |
possibly damaging |
Het |
Zfp9 |
G |
T |
6: 118,443,851 (GRCm39) |
A58E |
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 |
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 |
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'- TAGAGAGCCATCCCAATGCC -3'
Sequencing Primer
(F):5'- CACATTTTGCTTTCATGATGTCAAC -3'
(R):5'- ATGCCTCCCTCACCATCTAAC -3'
|
Posted On |
2022-10-06 |