Incidental Mutation 'R6174:Slc1a6'
| ID |
488207 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.083)
|
| Stock # |
R6174 (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 78637741 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 422
(D422E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000005490
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005490]
|
| AlphaFold |
O35544 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000005490
AA Change: D422E
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000005490
Gene: ENSMUSG00000005357
AA Change: D422E
| 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: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.7%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930590J08Rik |
T |
A |
6: 91,919,517 (GRCm39) |
D725E |
probably damaging |
Het |
| Bco1 |
T |
A |
8: 117,840,273 (GRCm39) |
Y264N |
probably damaging |
Het |
| Cd109 |
G |
A |
9: 78,572,828 (GRCm39) |
|
probably null |
Het |
| Cdc45 |
T |
C |
16: 18,613,454 (GRCm39) |
|
probably null |
Het |
| Ckap5 |
A |
G |
2: 91,398,564 (GRCm39) |
E578G |
probably benign |
Het |
| Cracr2b |
T |
A |
7: 141,044,749 (GRCm39) |
L193Q |
probably damaging |
Het |
| Dmxl2 |
G |
A |
9: 54,301,011 (GRCm39) |
L2367F |
probably damaging |
Het |
| Dop1b |
T |
G |
16: 93,563,110 (GRCm39) |
D871E |
probably damaging |
Het |
| Emc1 |
T |
C |
4: 139,093,842 (GRCm39) |
Y651H |
probably benign |
Het |
| Enox1 |
T |
C |
14: 77,745,627 (GRCm39) |
S41P |
possibly damaging |
Het |
| Fcgbpl1 |
A |
G |
7: 27,839,384 (GRCm39) |
Y399C |
probably damaging |
Het |
| Foxa1 |
A |
G |
12: 57,589,686 (GRCm39) |
L178P |
probably damaging |
Het |
| Gm57859 |
C |
A |
11: 113,579,801 (GRCm39) |
H399N |
possibly damaging |
Het |
| Grm7 |
T |
A |
6: 111,223,258 (GRCm39) |
Y433N |
probably benign |
Het |
| Gsta5 |
T |
A |
9: 78,211,737 (GRCm39) |
Y166* |
probably null |
Het |
| Gtf3c2 |
G |
A |
5: 31,315,555 (GRCm39) |
R813C |
probably damaging |
Het |
| H4c9 |
T |
A |
13: 22,225,247 (GRCm39) |
T83S |
probably benign |
Het |
| Hacd3 |
T |
C |
9: 64,912,909 (GRCm39) |
E117G |
probably damaging |
Het |
| Hmcn1 |
G |
A |
1: 150,522,535 (GRCm39) |
T3455M |
probably benign |
Het |
| Itga6 |
A |
G |
2: 71,664,053 (GRCm39) |
I61V |
possibly damaging |
Het |
| Jaml |
T |
C |
9: 45,000,071 (GRCm39) |
L81P |
probably damaging |
Het |
| Loxhd1 |
T |
C |
18: 77,499,874 (GRCm39) |
F782S |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 41,339,275 (GRCm39) |
H742R |
probably benign |
Het |
| Macrod2 |
G |
T |
2: 140,242,895 (GRCm39) |
M1I |
probably null |
Het |
| Mcf2l |
G |
A |
8: 13,063,849 (GRCm39) |
W1020* |
probably null |
Het |
| Msgn1 |
A |
G |
12: 11,258,924 (GRCm39) |
L9P |
probably damaging |
Het |
| Ngdn |
C |
A |
14: 55,259,556 (GRCm39) |
S202R |
probably benign |
Het |
| Notch1 |
C |
T |
2: 26,375,454 (GRCm39) |
G50R |
possibly damaging |
Het |
| Or14c46 |
A |
T |
7: 85,918,009 (GRCm39) |
D329E |
probably benign |
Het |
| Or1a1b |
A |
T |
11: 74,097,466 (GRCm39) |
I192N |
probably damaging |
Het |
| Or2d2b |
A |
T |
7: 106,705,714 (GRCm39) |
M118K |
probably damaging |
Het |
| Or5d14 |
A |
T |
2: 87,880,646 (GRCm39) |
C107* |
probably null |
Het |
| Osbpl10 |
A |
G |
9: 114,938,555 (GRCm39) |
S211G |
probably benign |
Het |
| Pabpc6 |
G |
A |
17: 9,887,084 (GRCm39) |
A489V |
probably benign |
Het |
| Pcdhb13 |
A |
T |
18: 37,576,474 (GRCm39) |
D284V |
possibly damaging |
Het |
| Pde6c |
T |
C |
19: 38,128,677 (GRCm39) |
S214P |
possibly damaging |
Het |
| Pofut1 |
C |
T |
2: 153,101,536 (GRCm39) |
H192Y |
probably damaging |
Het |
| Pou3f2 |
T |
C |
4: 22,486,960 (GRCm39) |
D391G |
possibly damaging |
Het |
| Prc1 |
G |
A |
7: 79,954,544 (GRCm39) |
S165N |
probably benign |
Het |
| Prex1 |
A |
G |
2: 166,414,883 (GRCm39) |
V304A |
probably benign |
Het |
| Ptpru |
T |
C |
4: 131,513,065 (GRCm39) |
I881V |
probably benign |
Het |
| Radil |
A |
G |
5: 142,472,870 (GRCm39) |
S847P |
probably benign |
Het |
| Rimklb |
A |
G |
6: 122,433,371 (GRCm39) |
S317P |
probably damaging |
Het |
| Sdhc |
A |
T |
1: 170,966,271 (GRCm39) |
L78* |
probably null |
Het |
| Skint6 |
T |
A |
4: 112,696,510 (GRCm39) |
I1042F |
possibly damaging |
Het |
| Slc29a1 |
A |
T |
17: 45,900,854 (GRCm39) |
H71Q |
probably damaging |
Het |
| Slfn14 |
A |
T |
11: 83,167,429 (GRCm39) |
D695E |
probably damaging |
Het |
| Spg11 |
A |
T |
2: 121,917,286 (GRCm39) |
|
probably null |
Het |
| Srgap2 |
A |
G |
1: 131,217,354 (GRCm39) |
V986A |
probably benign |
Het |
| Stab1 |
A |
T |
14: 30,884,476 (GRCm39) |
C172* |
probably null |
Het |
| Tigd4 |
A |
G |
3: 84,502,574 (GRCm39) |
H497R |
probably benign |
Het |
| Ubn2 |
G |
A |
6: 38,438,471 (GRCm39) |
G60D |
probably damaging |
Het |
| Uckl1 |
C |
T |
2: 181,214,866 (GRCm39) |
|
probably null |
Het |
| Vmn2r24 |
A |
T |
6: 123,793,236 (GRCm39) |
K854N |
probably benign |
Het |
| Vps13d |
G |
A |
4: 144,701,763 (GRCm39) |
Q3193* |
probably null |
Het |
| Wdr26 |
G |
A |
1: 181,019,433 (GRCm39) |
L315F |
probably damaging |
Het |
| Zc3h8 |
C |
A |
2: 128,785,775 (GRCm39) |
E24* |
probably null |
Het |
| Zfp39 |
A |
G |
11: 58,782,213 (GRCm39) |
V183A |
probably benign |
Het |
| Zfp608 |
C |
A |
18: 55,121,616 (GRCm39) |
|
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 |
|
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'- CATTGATGTCATTGCCCCTG -3'
(R):5'- AGACCAGAAATGTTTCACAGGTC -3'
Sequencing Primer
(F):5'- GCCCCATTCAATTCCCTATTCTCAG -3'
(R):5'- CCAGAAATGTTTCACAGGTCACTTTC -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation