Incidental Mutation 'R5773:Slc1a6'
ID |
462645 |
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 |
043372-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.083)
|
Stock # |
R5773 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
78616330-78650599 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to G
at 78629111 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000005490
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005490]
[ENSMUST00000217717]
|
AlphaFold |
O35544 |
Predicted Effect |
probably null
Transcript: ENSMUST00000005490
|
SMART Domains |
Protein: ENSMUSP00000005490 Gene: ENSMUSG00000005357
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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.8%
|
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acss2 |
G |
A |
2: 155,416,614 (GRCm39) |
|
probably null |
Het |
Akna |
C |
T |
4: 63,313,307 (GRCm39) |
S272N |
probably benign |
Het |
Ap2m1 |
T |
C |
16: 20,362,140 (GRCm39) |
V416A |
probably damaging |
Het |
Atp7b |
A |
G |
8: 22,517,879 (GRCm39) |
F320L |
probably benign |
Het |
Brd1 |
T |
C |
15: 88,573,752 (GRCm39) |
K1116E |
probably benign |
Het |
Ccdc186 |
T |
C |
19: 56,801,919 (GRCm39) |
D66G |
probably benign |
Het |
Cdh4 |
A |
G |
2: 179,527,789 (GRCm39) |
Y503C |
probably damaging |
Het |
Cfb |
C |
A |
17: 35,076,248 (GRCm39) |
E166* |
probably null |
Het |
Cmtm1 |
A |
T |
8: 105,031,808 (GRCm39) |
F90I |
probably damaging |
Het |
Col1a1 |
A |
T |
11: 94,830,255 (GRCm39) |
K160N |
probably benign |
Het |
Cradd |
T |
C |
10: 95,011,823 (GRCm39) |
I106V |
probably benign |
Het |
Defa17 |
A |
G |
8: 22,146,574 (GRCm39) |
R67G |
probably damaging |
Het |
Dgkh |
T |
C |
14: 78,832,895 (GRCm39) |
N765S |
probably damaging |
Het |
Dock5 |
A |
G |
14: 68,033,507 (GRCm39) |
V954A |
possibly damaging |
Het |
Eif2d |
A |
G |
1: 131,086,040 (GRCm39) |
|
probably null |
Het |
Epg5 |
T |
A |
18: 78,004,040 (GRCm39) |
F683I |
probably damaging |
Het |
Fhad1 |
T |
G |
4: 141,656,881 (GRCm39) |
K91T |
probably damaging |
Het |
Fut11 |
A |
T |
14: 20,748,383 (GRCm39) |
D476V |
probably damaging |
Het |
Gldn |
T |
C |
9: 54,241,775 (GRCm39) |
|
probably null |
Het |
Gm7247 |
C |
T |
14: 51,601,805 (GRCm39) |
S26F |
probably benign |
Het |
Gm8674 |
T |
A |
13: 50,055,912 (GRCm39) |
|
noncoding transcript |
Het |
Gtpbp6 |
C |
A |
5: 110,254,757 (GRCm39) |
E168D |
possibly damaging |
Het |
Hinfp |
T |
A |
9: 44,210,533 (GRCm39) |
H163L |
probably benign |
Het |
Igkv6-29 |
C |
A |
6: 70,115,584 (GRCm39) |
G70V |
possibly damaging |
Het |
Ing3 |
T |
A |
6: 21,971,834 (GRCm39) |
C368S |
probably damaging |
Het |
Itih1 |
A |
G |
14: 30,657,356 (GRCm39) |
V489A |
possibly damaging |
Het |
Itsn2 |
T |
C |
12: 4,757,089 (GRCm39) |
L1393P |
probably damaging |
Het |
Kcnj13 |
T |
C |
1: 87,314,389 (GRCm39) |
T278A |
probably damaging |
Het |
Kntc1 |
G |
A |
5: 123,932,220 (GRCm39) |
R1338Q |
probably damaging |
Het |
Lipi |
T |
A |
16: 75,370,813 (GRCm39) |
T135S |
probably damaging |
Het |
Map7 |
A |
G |
10: 20,122,390 (GRCm39) |
K152R |
probably benign |
Het |
Mmp24 |
A |
G |
2: 155,641,829 (GRCm39) |
Y219C |
probably damaging |
Het |
Nup188 |
T |
C |
2: 30,212,208 (GRCm39) |
V565A |
possibly damaging |
Het |
Nup210 |
T |
C |
6: 91,062,865 (GRCm39) |
K265E |
probably damaging |
Het |
Or10ak9 |
A |
G |
4: 118,726,718 (GRCm39) |
T247A |
probably damaging |
Het |
Pcdha6 |
A |
T |
18: 37,102,643 (GRCm39) |
H612L |
probably benign |
Het |
Pgpep1 |
G |
A |
8: 71,105,101 (GRCm39) |
T53M |
probably damaging |
Het |
Pld2 |
G |
T |
11: 70,446,758 (GRCm39) |
S778I |
probably damaging |
Het |
Ppef2 |
A |
C |
5: 92,398,420 (GRCm39) |
Y33D |
probably damaging |
Het |
Ppfibp2 |
A |
T |
7: 107,285,079 (GRCm39) |
T129S |
possibly damaging |
Het |
Prickle1 |
G |
T |
15: 93,406,478 (GRCm39) |
H182N |
probably damaging |
Het |
R3hdm2 |
T |
A |
10: 127,280,172 (GRCm39) |
|
probably benign |
Het |
Rbm12b1 |
A |
T |
4: 12,145,765 (GRCm39) |
E579V |
probably damaging |
Het |
Rsf1 |
GGC |
GGCGGCGGCTGC |
7: 97,229,140 (GRCm39) |
|
probably benign |
Het |
Slc27a6 |
G |
T |
18: 58,715,245 (GRCm39) |
A283S |
probably damaging |
Het |
Spats2l |
T |
A |
1: 57,918,708 (GRCm39) |
N27K |
possibly damaging |
Het |
Srgap1 |
T |
C |
10: 121,732,614 (GRCm39) |
M155V |
probably benign |
Het |
Stxbp5l |
C |
A |
16: 37,028,459 (GRCm39) |
A535S |
probably damaging |
Het |
Svep1 |
C |
A |
4: 58,099,985 (GRCm39) |
C1353F |
possibly damaging |
Het |
Taar4 |
T |
A |
10: 23,837,056 (GRCm39) |
I222N |
probably damaging |
Het |
Tlr6 |
A |
G |
5: 65,111,846 (GRCm39) |
F354L |
probably benign |
Het |
Trp53bp1 |
A |
G |
2: 121,074,395 (GRCm39) |
S452P |
probably damaging |
Het |
Ttll5 |
GCCCTGCGGGGCTGCCACGCTGTCGATCCGGCAGCTAC |
G |
12: 85,980,329 (GRCm39) |
|
probably null |
Het |
Usp42 |
A |
T |
5: 143,699,467 (GRCm39) |
M1264K |
probably benign |
Het |
Zfp865 |
A |
T |
7: 5,037,693 (GRCm39) |
|
probably benign |
Het |
Zfyve26 |
A |
T |
12: 79,334,511 (GRCm39) |
L169Q |
probably damaging |
Het |
Zmym4 |
A |
T |
4: 126,799,163 (GRCm39) |
N383K |
possibly 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 |
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 |
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'- AGCAGCTCTGTGGGTCTGG -3'
(R):5'- ATTCTCCCAGAGTCCTCCCTAA -3'
Sequencing Primer
(F):5'- TCCAATAGCTGACTGTGAGC -3'
(R):5'- AAGGACCCCTACCCACTCTTTC -3'
|
Posted On |
2017-03-01 |