Incidental Mutation 'IGL00335:Slc1a6'
ID4697
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: 0.082) question?
Stock #IGL00335
Quality Score
Status
Chromosome10
Chromosomal Location78780496-78814765 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 78801813 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 391 (L391P)
Ref Sequence ENSEMBL: ENSMUSP00000005490 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005490]
Predicted Effect probably damaging
Transcript: ENSMUST00000005490
AA Change: L391P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000005490
Gene: ENSMUSG00000005357
AA Change: L391P

DomainStartEndE-ValueType
low complexity region 27 43 N/A INTRINSIC
Pfam:SDF 55 519 8.5e-129 PFAM
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700048O20Rik C A 9: 121,940,767 noncoding transcript Het
4930579F01Rik C A 3: 138,186,198 probably benign Het
Aurkc T A 7: 6,996,548 I18N probably damaging Het
Bace1 T C 9: 45,839,290 probably null Het
Chrne C T 11: 70,615,762 V311I probably benign Het
Cyp2c70 C T 19: 40,167,576 V177M probably damaging Het
Dusp10 A G 1: 184,069,131 E365G probably benign Het
Fam166b G A 4: 43,428,158 R100W possibly damaging Het
Fcgbp C A 7: 28,086,135 N332K possibly damaging Het
Irx4 T C 13: 73,268,691 V402A probably benign Het
Kcnq4 G A 4: 120,698,016 Q657* probably null Het
Kif14 G A 1: 136,469,018 S354N probably benign Het
Lama3 A G 18: 12,449,588 probably benign Het
Lrrc8b T C 5: 105,480,499 I237T probably damaging Het
Mepe G T 5: 104,337,977 G328C probably damaging Het
Numb A G 12: 83,808,132 I129T probably damaging Het
Olfr193 T C 16: 59,110,598 D4G probably benign Het
Olfr799 T C 10: 129,647,437 I103T probably benign Het
Osmr T C 15: 6,837,023 D390G probably benign Het
Pglyrp3 G A 3: 92,022,679 V51I probably damaging Het
Phactr2 T C 10: 13,245,535 T470A probably damaging Het
Psmg1 G A 16: 95,980,068 T259I possibly damaging Het
Rtl3 T C X: 106,838,937 T240A probably benign Het
Ryr1 C T 7: 29,124,960 probably null Het
Slc10a6 A G 5: 103,609,125 S258P probably benign Het
Slc6a7 C T 18: 61,001,609 V465M possibly damaging Het
Sost T C 11: 101,966,879 D32G probably damaging Het
Sox4 C A 13: 28,952,973 G17W probably damaging Het
Tifab A G 13: 56,176,469 S54P probably damaging Het
Tmem211 A G 5: 113,236,003 R96G probably benign Het
Tnrc6a T A 7: 123,170,780 S598T probably benign Het
Vmn2r1 T A 3: 64,105,388 I890N probably damaging Het
Wapl A G 14: 34,692,636 D485G probably benign Het
Wee2 A T 6: 40,462,061 I373F probably damaging Het
Xkr6 A G 14: 63,819,215 T192A probably damaging Het
Zfp638 A G 6: 83,979,718 D1769G probably damaging Het
Other mutations in Slc1a6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00496:Slc1a6 APN 10 78793308 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 On2012-04-20