Incidental Mutation 'R1855:Slc1a6'
ID 206036
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 039879-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.083) question?
Stock # R1855 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 78616330-78650599 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 78648758 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 493 (V493E)
Ref Sequence ENSEMBL: ENSMUSP00000005490 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005490]
AlphaFold O35544
Predicted Effect probably damaging
Transcript: ENSMUST00000005490
AA Change: V493E

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000005490
Gene: ENSMUSG00000005357
AA Change: V493E

DomainStartEndE-ValueType
low complexity region 27 43 N/A INTRINSIC
Pfam:SDF 55 519 8.5e-129 PFAM
Meta Mutation Damage Score 0.9736 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.4%
Validation Efficiency 97% (72/74)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830018L16Rik T A 1: 11,818,195 (GRCm39) L285Q probably damaging Het
Acaca T C 11: 84,262,380 (GRCm39) L1994P probably damaging Het
Adamts9 A G 6: 92,878,350 (GRCm39) probably benign Het
Aff3 T C 1: 38,249,385 (GRCm39) E574G probably benign Het
Ankrd1 T C 19: 36,096,635 (GRCm39) K64R probably damaging Het
Arhgap23 T C 11: 97,339,523 (GRCm39) I163T probably damaging Het
Ascc3 A T 10: 50,494,018 (GRCm39) Q151L probably benign Het
Atad2 G A 15: 57,960,685 (GRCm39) P971L possibly damaging Het
C1s1 A C 6: 124,511,315 (GRCm39) probably null Het
Ccdc150 T C 1: 54,407,069 (GRCm39) probably benign Het
Cdhr3 A T 12: 33,110,351 (GRCm39) I311N probably damaging Het
Chad T A 11: 94,456,303 (GRCm39) L127H probably damaging Het
Clasp1 G A 1: 118,436,624 (GRCm39) A303T probably damaging Het
Clptm1 A G 7: 19,372,134 (GRCm39) V234A probably benign Het
Cnih3 C A 1: 181,282,186 (GRCm39) S140* probably null Het
Col24a1 G A 3: 145,164,895 (GRCm39) G1033D probably damaging Het
Csnk1a1 T A 18: 61,708,498 (GRCm39) probably null Het
Cttnbp2 T A 6: 18,378,412 (GRCm39) I1475L probably benign Het
Dnah5 T C 15: 28,411,815 (GRCm39) V3728A possibly damaging Het
Dock9 C A 14: 121,877,571 (GRCm39) V391F probably damaging Het
Ehmt2 A T 17: 35,129,752 (GRCm39) I949F probably damaging Het
Eif4g1 C A 16: 20,505,911 (GRCm39) T1025K possibly damaging Het
Enpp2 C T 15: 54,709,219 (GRCm39) E803K probably damaging Het
Esrrg A T 1: 187,943,295 (GRCm39) M423L probably damaging Het
Etnppl A T 3: 130,414,371 (GRCm39) I89F probably benign Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fbln7 A G 2: 128,735,755 (GRCm39) T248A possibly damaging Het
Galnt9 C T 5: 110,763,390 (GRCm39) T465M probably damaging Het
Grcc10 A G 6: 124,717,541 (GRCm39) V57A probably benign Het
Herc1 T A 9: 66,298,708 (GRCm39) M614K possibly damaging Het
Itch C T 2: 155,014,374 (GRCm39) probably benign Het
Kdm6b C A 11: 69,298,112 (GRCm39) A167S probably damaging Het
Kidins220 C T 12: 25,106,590 (GRCm39) R1348C probably damaging Het
Kif17 T C 4: 138,015,582 (GRCm39) L577P probably benign Het
Krt25 A T 11: 99,209,141 (GRCm39) L258Q probably damaging Het
Marchf10 T C 11: 105,281,218 (GRCm39) T356A probably benign Het
Mical2 G A 7: 111,944,489 (GRCm39) A940T probably benign Het
Mrpl4 A G 9: 20,914,667 (GRCm39) E81G possibly damaging Het
Mtcl1 A G 17: 66,686,509 (GRCm39) V447A probably benign Het
Mtor C A 4: 148,637,546 (GRCm39) N2502K probably benign Het
Notch4 G A 17: 34,799,936 (GRCm39) D966N probably benign Het
Oip5 C A 2: 119,442,271 (GRCm39) K214N probably benign Het
Or8a1b A T 9: 37,623,266 (GRCm39) F103Y possibly damaging Het
Pabir2 T A X: 52,342,933 (GRCm39) Q201H probably benign Het
Pak5 A T 2: 135,929,429 (GRCm39) S585T probably benign Het
Pard3 T A 8: 128,174,293 (GRCm39) probably null Het
Pcnx2 A T 8: 126,534,735 (GRCm39) probably benign Het
Pcsk5 T C 19: 17,492,556 (GRCm39) Y939C possibly damaging Het
Pde1a A G 2: 79,728,408 (GRCm39) probably null Het
Pde9a C T 17: 31,674,094 (GRCm39) P60S probably damaging Het
Pikfyve C A 1: 65,297,957 (GRCm39) T1562K probably benign Het
Plekhg6 A T 6: 125,352,802 (GRCm39) M115K probably damaging Het
Pogz C T 3: 94,786,160 (GRCm39) T863I probably benign Het
Ppp1r3a A T 6: 14,754,993 (GRCm39) W85R probably damaging Het
Rnf123 C A 9: 107,938,990 (GRCm39) R826L probably damaging Het
Slc22a2 A G 17: 12,805,699 (GRCm39) D150G probably damaging Het
Snap47 C T 11: 59,319,159 (GRCm39) probably benign Het
Spata22 A G 11: 73,231,385 (GRCm39) D213G probably benign Het
St6galnac2 T A 11: 116,581,141 (GRCm39) R60S probably benign Het
Stk32c A G 7: 138,701,363 (GRCm39) F263S probably damaging Het
Supt6 T C 11: 78,123,366 (GRCm39) I104V possibly damaging Het
Tex2 T C 11: 106,437,702 (GRCm39) E158G possibly damaging Het
Tiam2 C T 17: 3,465,410 (GRCm39) R380C probably damaging Het
Trim25 C T 11: 88,906,407 (GRCm39) T410I probably benign Het
Usp18 T A 6: 121,239,076 (GRCm39) C212S probably benign Het
Vmn1r2 A G 4: 3,172,588 (GRCm39) Y169C probably damaging Het
Wdr33 A T 18: 32,039,909 (GRCm39) probably benign Het
Xpr1 A G 1: 155,159,002 (GRCm39) Y597H probably benign Het
Yy1 CGGG CGGGGGGGGG 12: 108,759,916 (GRCm39) probably benign Het
Zfp54 T A 17: 21,654,404 (GRCm39) Y299* probably null Het
Zfp566 T G 7: 29,777,927 (GRCm39) S85R 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
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
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'- TGCCCAGCATCACACATTTTG -3'
(R):5'- TGAATCTTCCCCACTCCAGG -3'

Sequencing Primer
(F):5'- GCATCACACATTTTGCTTTCATGATG -3'
(R):5'- GGTCCCAAAGATAACAAAACTATGAG -3'
Posted On 2014-06-23