Incidental Mutation 'R9660:Slc1a6'
ID 727534
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.083) question?
Stock # R9660 (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 78648698 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 473 (M473K)
Ref Sequence ENSEMBL: ENSMUSP00000005490 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005490]
AlphaFold O35544
Predicted Effect probably benign
Transcript: ENSMUST00000005490
AA Change: M473K

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000005490
Gene: ENSMUSG00000005357
AA Change: M473K

DomainStartEndE-ValueType
low complexity region 27 43 N/A INTRINSIC
Pfam:SDF 55 519 8.5e-129 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A G 7: 119,851,478 (GRCm39) M819V probably benign Het
Abca5 T A 11: 110,168,248 (GRCm39) T1461S possibly damaging Het
Actl6b C T 5: 137,562,766 (GRCm39) R161C probably damaging Het
Aoc3 C G 11: 101,221,914 (GRCm39) P50R possibly damaging Het
Atr G A 9: 95,797,050 (GRCm39) A1698T probably benign Het
Caml T A 13: 55,779,670 (GRCm39) S248T possibly damaging Het
Cdh11 C T 8: 103,384,879 (GRCm39) G399S possibly damaging Het
Chrna10 G T 7: 101,761,416 (GRCm39) L392I probably benign Het
Clip2 C T 5: 134,533,616 (GRCm39) R487Q probably benign Het
Copg1 A G 6: 87,879,225 (GRCm39) I424V probably damaging Het
Cwh43 A T 5: 73,565,629 (GRCm39) N65Y possibly damaging Het
Defb1 A G 8: 22,284,486 (GRCm39) Y35C probably damaging Het
Disp2 T C 2: 118,620,627 (GRCm39) V453A probably benign Het
Dpp9 A G 17: 56,494,458 (GRCm39) Y834H probably damaging Het
Emsy A G 7: 98,262,285 (GRCm39) I598T possibly damaging Het
Entpd2 C T 2: 25,288,153 (GRCm39) R126C probably damaging Het
Fbxl17 A T 17: 63,806,426 (GRCm39) M196K probably benign Het
Gcc1 T C 6: 28,420,544 (GRCm39) R258G probably damaging Het
Gga2 A T 7: 121,606,494 (GRCm39) M157K possibly damaging Het
Gna11 T C 10: 81,370,918 (GRCm39) N106S probably benign Het
Gtf3c1 A C 7: 125,262,199 (GRCm39) S1116A possibly damaging Het
Gucy2d C A 7: 98,099,064 (GRCm39) D294E probably damaging Het
Igkv12-46 G T 6: 69,741,967 (GRCm39) P4T possibly damaging Het
Iqcf5 A T 9: 106,393,168 (GRCm39) I142L probably damaging Het
Klhdc9 A G 1: 171,187,357 (GRCm39) S214P probably damaging Het
Kmt2e T C 5: 23,683,617 (GRCm39) Y292H probably damaging Het
Lgr6 A G 1: 134,915,245 (GRCm39) L778P probably damaging Het
Lrrk2 A G 15: 91,618,228 (GRCm39) N909S probably benign Het
Ly75 A G 2: 60,154,184 (GRCm39) S1088P probably damaging Het
Mei1 G A 15: 81,966,098 (GRCm39) G240D Het
Miox A T 15: 89,218,703 (GRCm39) probably benign Het
Myo1e A G 9: 70,223,924 (GRCm39) Y128C probably damaging Het
Necab2 T C 8: 120,189,403 (GRCm39) V191A possibly damaging Het
Nlrp9a T A 7: 26,256,915 (GRCm39) Y178N probably damaging Het
Nr4a3 A G 4: 48,051,353 (GRCm39) T36A probably benign Het
Nup210l A G 3: 90,105,402 (GRCm39) T1517A probably benign Het
Nup210l C T 3: 90,107,173 (GRCm39) P1570L probably benign Het
Or4a27 T C 2: 88,559,142 (GRCm39) K267R probably damaging Het
Or4g17 T G 2: 111,210,239 (GRCm39) I298R probably damaging Het
Or4p23 T C 2: 88,576,872 (GRCm39) Y120C probably damaging Het
Or51h7 C T 7: 102,591,259 (GRCm39) C175Y probably damaging Het
Pcnx2 A T 8: 126,487,592 (GRCm39) S1804T probably damaging Het
Pdcd11 T A 19: 47,082,191 (GRCm39) V35D possibly damaging Het
Pde10a C A 17: 9,170,370 (GRCm39) T347K probably damaging Het
Rcc1l A G 5: 134,182,977 (GRCm39) Y432H probably benign Het
Rgs22 A T 15: 36,040,856 (GRCm39) V1001E probably benign Het
Ripor3 T A 2: 167,831,646 (GRCm39) D385V probably damaging Het
Rrbp1 T C 2: 143,831,178 (GRCm39) K330E probably damaging Het
Ryr3 T G 2: 112,664,074 (GRCm39) D1759A probably benign Het
Scube3 A G 17: 28,371,414 (GRCm39) D43G probably benign Het
Sec24b A G 3: 129,790,422 (GRCm39) I701T probably damaging Het
Setd5 G T 6: 113,128,366 (GRCm39) V1440L probably benign Het
Sik3 A G 9: 46,106,142 (GRCm39) K337E possibly damaging Het
Slc14a1 C A 18: 78,152,807 (GRCm39) A367S probably damaging Het
Spag16 A G 1: 69,962,842 (GRCm39) R330G probably benign Het
Spag6 C A 2: 18,704,047 (GRCm39) Q32K probably benign Het
Sspo G A 6: 48,432,707 (GRCm39) G861D probably damaging Het
Togaram2 T A 17: 72,024,365 (GRCm39) S850T probably damaging Het
Trbv15 A T 6: 41,118,550 (GRCm39) E102V possibly damaging Het
Trim43b G T 9: 88,973,395 (GRCm39) H113N probably benign Het
Trpm2 T A 10: 77,766,389 (GRCm39) I877L probably benign Het
Ttn T C 2: 76,599,152 (GRCm39) I19286V probably benign Het
Ttn C T 2: 76,715,357 (GRCm39) E7912K unknown Het
Tubb6 A G 18: 67,534,671 (GRCm39) H190R probably benign Het
Vmn1r214 T C 13: 23,219,007 (GRCm39) V167A probably benign Het
Vwf C A 6: 125,568,670 (GRCm39) L398I possibly damaging Het
Zfp9 G T 6: 118,443,851 (GRCm39) A58E probably benign Het
Other mutations in Slc1a6
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- CAGCATCACACATTTTGCTTTCATG -3'
(R):5'- TAGAGAGCCATCCCAATGCC -3'

Sequencing Primer
(F):5'- CACATTTTGCTTTCATGATGTCAAC -3'
(R):5'- ATGCCTCCCTCACCATCTAAC -3'
Posted On 2022-10-06