Incidental Mutation 'R2939:Slc1a6'
ID 264595
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 040516-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.083) question?
Stock # R2939 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 78616330-78650599 bp(+) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) G to T at 78650448 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Leucine at position 562 (*562L)
Ref Sequence ENSEMBL: ENSMUSP00000005490 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005490]
AlphaFold O35544
Predicted Effect probably null
Transcript: ENSMUST00000005490
AA Change: *562L
SMART Domains Protein: ENSMUSP00000005490
Gene: ENSMUSG00000005357
AA Change: *562L

DomainStartEndE-ValueType
low complexity region 27 43 N/A INTRINSIC
Pfam:SDF 55 519 8.5e-129 PFAM
Meta Mutation Damage Score 0.8295 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.6%
Validation Efficiency 98% (62/63)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl11 T C 9: 107,808,409 (GRCm39) Y911H possibly damaging Het
Arhgef26 A C 3: 62,288,331 (GRCm39) K467T possibly damaging Het
Armcx6 A T X: 133,650,625 (GRCm39) W69R probably damaging Het
Asl T C 5: 130,042,245 (GRCm39) Y277C probably damaging Het
Atm T C 9: 53,406,011 (GRCm39) Y1219C probably damaging Het
Azin2 C T 4: 128,828,397 (GRCm39) C270Y probably benign Het
Brsk1 A T 7: 4,711,139 (GRCm39) I545F possibly damaging Het
Carm1 C A 9: 21,490,692 (GRCm39) probably null Het
Cfap410 A G 10: 77,817,507 (GRCm39) N78S probably benign Het
Cfap69 G A 5: 5,694,432 (GRCm39) A143V probably damaging Het
Cldn14 T C 16: 93,716,192 (GRCm39) K218R probably damaging Het
Col5a3 T C 9: 20,706,954 (GRCm39) K714R unknown Het
Crybg2 A G 4: 133,809,745 (GRCm39) H1517R possibly damaging Het
Dagla A C 19: 10,233,728 (GRCm39) F382C probably damaging Het
Dixdc1 G A 9: 50,622,259 (GRCm39) A25V probably damaging Het
Dock6 A G 9: 21,750,496 (GRCm39) F473L possibly damaging Het
Eif5 T C 12: 111,506,713 (GRCm39) C102R probably damaging Het
Faiml A G 9: 99,114,527 (GRCm39) C121R probably damaging Het
Fhdc1 A G 3: 84,364,577 (GRCm39) V223A possibly damaging Het
Garin4 T C 1: 190,896,103 (GRCm39) D180G possibly damaging Het
Gpatch8 A G 11: 102,399,010 (GRCm39) V74A unknown Het
Haghl A G 17: 26,004,060 (GRCm39) V8A possibly damaging Het
Ksr1 A G 11: 78,936,007 (GRCm39) probably null Het
Lama5 A C 2: 179,840,747 (GRCm39) Y584D probably damaging Het
Lgi4 C T 7: 30,767,253 (GRCm39) R427* probably null Het
Lrriq1 T A 10: 102,980,750 (GRCm39) S1462C probably damaging Het
Map3k4 C T 17: 12,480,157 (GRCm39) E682K probably damaging Het
Myo9b G A 8: 71,786,981 (GRCm39) R721Q probably benign Het
Nherf1 C T 11: 115,071,270 (GRCm39) R335C probably damaging Het
Nmnat2 C A 1: 152,950,474 (GRCm39) S53Y probably damaging Het
Or8b12i C A 9: 20,082,061 (GRCm39) G269W probably benign Het
Or8g34 G A 9: 39,373,226 (GRCm39) M166I probably benign Het
Pcsk7 C T 9: 45,827,322 (GRCm39) A363V probably damaging Het
Pdrg1 C T 2: 152,854,355 (GRCm39) G62R probably damaging Het
Pdzd7 A G 19: 45,033,862 (GRCm39) I74T possibly damaging Het
Plcb4 T C 2: 135,781,123 (GRCm39) probably benign Het
Pramel28 A G 4: 143,693,247 (GRCm39) V77A probably benign Het
Rnf25 A G 1: 74,635,047 (GRCm39) V135A possibly damaging Het
Rph3a A G 5: 121,118,212 (GRCm39) probably benign Het
Rsf1 CG CGACGGCGGTG 7: 97,229,115 (GRCm39) probably benign Het
Senp6 G A 9: 80,051,124 (GRCm39) A1134T probably benign Het
Slc26a6 G A 9: 108,734,236 (GRCm39) V206I probably benign Het
Slc45a3 A G 1: 131,905,637 (GRCm39) E206G probably damaging Het
Smc1a T A X: 150,816,695 (GRCm39) Y516N probably damaging Het
Smpd3 A G 8: 106,984,039 (GRCm39) V560A probably benign Het
Spata31g1 A G 4: 42,972,946 (GRCm39) K760E probably benign Het
Ssc4d T C 5: 135,994,578 (GRCm39) T51A possibly damaging Het
Suco A G 1: 161,676,220 (GRCm39) I386T probably damaging Het
Tecta A T 9: 42,289,290 (GRCm39) M425K possibly damaging Het
Tmprss11e G A 5: 86,869,266 (GRCm39) R96W probably damaging Het
Trim63 T C 4: 134,050,308 (GRCm39) probably benign Het
Trpv1 A G 11: 73,145,675 (GRCm39) K403R probably damaging Het
Ttc39d A G 17: 80,524,982 (GRCm39) Y547C probably damaging Het
Unc79 C T 12: 102,957,684 (GRCm39) T33I probably damaging Het
Usp47 G A 7: 111,681,743 (GRCm39) S518N probably damaging Het
Vmn2r22 T A 6: 123,614,594 (GRCm39) D332V probably damaging Het
Vmn2r55 A G 7: 12,385,832 (GRCm39) L716P probably damaging Het
Zfp558 T C 9: 18,367,924 (GRCm39) N288S possibly damaging 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
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'- TATCTTCCACCAGTGACCGAC -3'
(R):5'- GGTTGTTCTTATATTTCGAGCACAC -3'

Sequencing Primer
(F):5'- AGTGACCGACTTCGTACAATG -3'
(R):5'- CTTATATTTCGAGCACACAAATGC -3'
Posted On 2015-02-05