Incidental Mutation 'IGL00496:Slc1a6'
ID332229
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc1a6
Ensembl Gene ENSMUSG00000005357
Gene Namesolute carrier family 1 (high affinity aspartate/glutamate transporter), member 6
SynonymsEAAT4
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.098) question?
Stock #IGL00496
Quality Score
Status
Chromosome10
Chromosomal Location78780496-78814765 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 78793308 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 186 (N186K)
Ref Sequence ENSEMBL: ENSMUSP00000005490 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005490] [ENSMUST00000217717]
Predicted Effect probably damaging
Transcript: ENSMUST00000005490
AA Change: N186K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000005490
Gene: ENSMUSG00000005357
AA Change: N186K

DomainStartEndE-ValueType
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
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933434E20Rik G A 3: 90,053,093 V14M possibly damaging Het
Adgrg6 C A 10: 14,450,578 probably null Het
Ankmy1 A G 1: 92,886,266 L397P probably damaging Het
Atp6v1c1 A G 15: 38,686,856 K232E probably damaging Het
Cnfn G T 7: 25,367,960 probably benign Het
Copb2 A G 9: 98,570,318 T52A probably benign Het
Daw1 A C 1: 83,197,236 L152F probably damaging Het
Gpr87 A T 3: 59,179,790 I98K probably damaging Het
Il17a G A 1: 20,732,283 R72H probably damaging Het
Lmtk2 A G 5: 144,174,694 Q744R probably benign Het
Micall1 G A 15: 79,115,021 probably benign Het
Micall2 T C 5: 139,716,328 T387A probably benign Het
Nckap1 T A 2: 80,506,202 I1057F possibly damaging Het
Nr1h3 T C 2: 91,190,199 D263G probably damaging Het
Nrip1 A T 16: 76,293,703 V322E possibly damaging Het
Pck1 T C 2: 173,154,118 probably null Het
Ppp3r2 A G 4: 49,681,773 I59T possibly damaging Het
Pradc1 A G 6: 85,447,966 probably null Het
Psmd14 A G 2: 61,760,682 Y32C probably damaging Het
Rrp12 A C 19: 41,878,027 probably null Het
Scaf8 A T 17: 3,171,134 I299F unknown Het
Selenoo A G 15: 89,095,672 D341G probably damaging Het
Smarcc2 T A 10: 128,463,055 S102R probably damaging Het
Stambpl1 T A 19: 34,240,030 V423E probably damaging Het
Svep1 A C 4: 58,069,001 C2928W possibly damaging Het
Tmed9 T C 13: 55,593,521 Y43H probably benign Het
Ttn T C 2: 76,740,747 T24855A possibly damaging Het
Usp7 A G 16: 8,695,113 V795A probably damaging Het
Wdr17 A C 8: 54,659,579 probably benign Het
Other mutations in Slc1a6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00335:Slc1a6 APN 10 78801813 missense probably damaging 1.00
IGL01099:Slc1a6 APN 10 78788997 missense possibly damaging 0.67
IGL02299:Slc1a6 APN 10 78793303 missense probably damaging 1.00
IGL02677:Slc1a6 APN 10 78789064 missense probably damaging 1.00
IGL02705:Slc1a6 APN 10 78801954 missense probably damaging 1.00
IGL03024:Slc1a6 APN 10 78814608 missense probably benign
IGL03185:Slc1a6 APN 10 78801907 missense probably damaging 1.00
IGL03046:Slc1a6 UTSW 10 78800174 missense probably benign 0.19
R0183:Slc1a6 UTSW 10 78791233 missense probably damaging 1.00
R0373:Slc1a6 UTSW 10 78801922 nonsense probably null
R0730:Slc1a6 UTSW 10 78796008 missense probably benign 0.13
R0774:Slc1a6 UTSW 10 78812824 missense probably benign 0.03
R0838:Slc1a6 UTSW 10 78796222 missense probably damaging 1.00
R1449:Slc1a6 UTSW 10 78800117 missense probably damaging 0.99
R1822:Slc1a6 UTSW 10 78812931 nonsense probably null
R1853:Slc1a6 UTSW 10 78812924 missense probably damaging 0.97
R1854:Slc1a6 UTSW 10 78812924 missense probably damaging 0.97
R1855:Slc1a6 UTSW 10 78812924 missense probably damaging 0.97
R1866:Slc1a6 UTSW 10 78791349 missense probably damaging 0.99
R2073:Slc1a6 UTSW 10 78800130 missense possibly damaging 0.93
R2279:Slc1a6 UTSW 10 78789048 missense probably benign 0.12
R2360:Slc1a6 UTSW 10 78812884 missense possibly damaging 0.91
R2939:Slc1a6 UTSW 10 78814614 makesense probably null
R3111:Slc1a6 UTSW 10 78789081 missense probably damaging 0.99
R3926:Slc1a6 UTSW 10 78812881 missense possibly damaging 0.91
R4116:Slc1a6 UTSW 10 78787889 missense probably benign 0.00
R4798:Slc1a6 UTSW 10 78800118 missense probably damaging 1.00
R4916:Slc1a6 UTSW 10 78796251 missense probably damaging 1.00
R5054:Slc1a6 UTSW 10 78814602 missense probably damaging 1.00
R5166:Slc1a6 UTSW 10 78796269 critical splice donor site probably null
R5304:Slc1a6 UTSW 10 78793307 missense probably damaging 1.00
R5367:Slc1a6 UTSW 10 78787803 missense probably damaging 1.00
R5554:Slc1a6 UTSW 10 78795982 missense probably benign 0.00
R5635:Slc1a6 UTSW 10 78789091 missense possibly damaging 0.67
R5773:Slc1a6 UTSW 10 78793277 splice site probably null
R6117:Slc1a6 UTSW 10 78788988 missense possibly damaging 0.72
R6167:Slc1a6 UTSW 10 78801837 missense probably benign 0.40
R6174:Slc1a6 UTSW 10 78801907 missense probably damaging 1.00
R6221:Slc1a6 UTSW 10 78800076 missense probably damaging 0.98
R6323:Slc1a6 UTSW 10 78812887 missense probably damaging 1.00
R6339:Slc1a6 UTSW 10 78800085 missense possibly damaging 0.94
R6670:Slc1a6 UTSW 10 78787812 missense probably benign 0.00
R7166:Slc1a6 UTSW 10 78812812 missense possibly damaging 0.96
R7292:Slc1a6 UTSW 10 78814604 missense possibly damaging 0.84
R7548:Slc1a6 UTSW 10 78814431 missense probably damaging 1.00
Posted On2015-08-05