Incidental Mutation 'IGL02299:Slc1a6'
ID290250
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: 0.088) question?
Stock #IGL02299
Quality Score
Status
Chromosome10
Chromosomal Location78780496-78814765 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 78793303 bp
ZygosityHeterozygous
Amino Acid Change Proline to Threonine at position 185 (P185T)
Ref Sequence ENSEMBL: ENSMUSP00000005490 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005490] [ENSMUST00000217717]
Predicted Effect probably damaging
Transcript: ENSMUST00000005490
AA Change: P185T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000005490
Gene: ENSMUSG00000005357
AA Change: P185T

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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot3 C T 12: 84,058,811 Q351* probably null Het
Ano1 T A 7: 144,590,075 H993L possibly damaging Het
Atp2c1 A T 9: 105,461,087 probably benign Het
Cd81 T C 7: 143,065,278 I13T probably damaging Het
Clasp2 T A 9: 113,879,989 D633E probably damaging Het
Ctif T C 18: 75,637,245 E23G probably damaging Het
Dnah3 G T 7: 119,967,579 L2475I probably benign Het
Fscn2 A G 11: 120,362,199 D164G probably benign Het
Igfn1 A G 1: 135,954,017 probably benign Het
Mast4 A T 13: 102,737,974 S1629T probably benign Het
Mpp4 C A 1: 59,158,579 probably benign Het
Nmi T A 2: 51,958,964 N38I probably damaging Het
Nod2 T A 8: 88,663,742 L226M possibly damaging Het
Notch4 T C 17: 34,578,004 S909P probably damaging Het
Oas1a A T 5: 120,905,692 W126R probably benign Het
Pcdhb5 T C 18: 37,320,890 F108L probably benign Het
Plxna4 G A 6: 32,165,156 P1589S probably benign Het
Qtrt1 A G 9: 21,411,949 E32G probably benign Het
S100a3 A G 3: 90,602,255 E69G possibly damaging Het
Slc8a3 T A 12: 81,315,224 I274F probably damaging Het
Smc6 A G 12: 11,290,751 N468S probably benign Het
Tep1 A G 14: 50,840,671 L1567P probably damaging Het
Ugt2b37 G A 5: 87,242,315 S424L probably benign Het
Urgcp A G 11: 5,717,573 L255P probably damaging Het
Vmn2r44 T A 7: 8,377,816 K359N probably benign Het
Xpo1 T A 11: 23,293,915 probably benign Het
Other mutations in Slc1a6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00335:Slc1a6 APN 10 78801813 missense probably damaging 1.00
IGL00496:Slc1a6 APN 10 78793308 missense probably damaging 1.00
IGL01099:Slc1a6 APN 10 78788997 missense possibly damaging 0.67
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 not run
Posted On2015-04-16