Incidental Mutation 'R8205:Slc1a7'
ID 635858
Institutional Source Beutler Lab
Gene Symbol Slc1a7
Ensembl Gene ENSMUSG00000008932
Gene Name solute carrier family 1 (glutamate transporter), member 7
Synonyms EAAT5, A930031E15Rik
MMRRC Submission 067628-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # R8205 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 107825603-107870726 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 107865508 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 332 (N332S)
Ref Sequence ENSEMBL: ENSMUSP00000102324 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106713]
AlphaFold Q8JZR4
Predicted Effect probably benign
Transcript: ENSMUST00000106713
AA Change: N332S

PolyPhen 2 Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000102324
Gene: ENSMUSG00000008932
AA Change: N332S

DomainStartEndE-ValueType
Pfam:SDF 29 485 1.9e-127 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.2%
Validation Efficiency 100% (52/52)
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam39 T C 8: 41,278,080 (GRCm39) V157A probably benign Het
Adamtsl1 A G 4: 86,117,650 (GRCm39) *204W probably null Het
Add2 A G 6: 86,063,899 (GRCm39) E66G probably damaging Het
Adgrd1 A G 5: 129,192,175 (GRCm39) T114A possibly damaging Het
Aldh7a1 A T 18: 56,678,070 (GRCm39) I247N probably damaging Het
Ankrd13d A T 19: 4,331,009 (GRCm39) M166K probably damaging Het
Brd7 A G 8: 89,070,243 (GRCm39) F388L probably damaging Het
Cap2 G A 13: 46,768,739 (GRCm39) V182M probably damaging Het
Col22a1 A T 15: 71,732,918 (GRCm39) V1100E unknown Het
Cracdl T C 1: 37,664,047 (GRCm39) D617G probably benign Het
Crisp2 T C 17: 41,095,969 (GRCm39) E63G possibly damaging Het
Dst T G 1: 34,253,685 (GRCm39) W2304G probably damaging Het
Eif2a A C 3: 58,456,156 (GRCm39) N385T probably damaging Het
Eif4ebp2 A T 10: 61,270,704 (GRCm39) H108Q probably benign Het
Fgd3 T C 13: 49,449,823 (GRCm39) D142G probably benign Het
Gbp8 T A 5: 105,198,846 (GRCm39) H23L probably benign Het
Glt1d1 A G 5: 127,768,080 (GRCm39) E229G probably benign Het
Gpatch8 T C 11: 102,371,213 (GRCm39) D775G unknown Het
Heatr1 T C 13: 12,430,928 (GRCm39) Y1008H probably benign Het
Heatr5a T A 12: 52,005,792 (GRCm39) N61I probably benign Het
Hydin A T 8: 111,319,270 (GRCm39) H4391L possibly damaging Het
Ifi206 T C 1: 173,309,450 (GRCm39) E182G Het
Mbtps1 A G 8: 120,247,077 (GRCm39) S789P probably damaging Het
Mex3a T C 3: 88,444,159 (GRCm39) S412P possibly damaging Het
Msantd5f1 G A 4: 73,605,542 (GRCm39) V318I possibly damaging Het
Mup2 T A 4: 60,137,659 (GRCm39) D128V probably benign Het
Ndufaf7 G A 17: 79,254,461 (GRCm39) C418Y probably benign Het
Nlrp4a A G 7: 26,150,219 (GRCm39) S609G probably benign Het
Obscn T A 11: 58,898,697 (GRCm39) Y6554F unknown Het
Odf2l A G 3: 144,856,495 (GRCm39) probably benign Het
Or14j2 A T 17: 37,885,892 (GRCm39) C141S probably damaging Het
Or1o11 T C 17: 37,757,180 (GRCm39) V245A probably damaging Het
Or4c104 A T 2: 88,587,016 (GRCm39) M1K probably null Het
Plod2 G T 9: 92,424,371 (GRCm39) probably benign Het
Ptgfr A G 3: 151,541,418 (GRCm39) V30A probably benign Het
Pxdn T G 12: 30,056,566 (GRCm39) L1259R probably damaging Het
Rnf6 A G 5: 146,147,714 (GRCm39) S435P probably damaging Het
Sacm1l G A 9: 123,415,724 (GRCm39) probably null Het
Scgb2b26 T C 7: 33,643,833 (GRCm39) T36A probably benign Het
Slfn5 T C 11: 82,851,544 (GRCm39) F614L probably benign Het
Smad7 C A 18: 75,527,119 (GRCm39) Q322K probably damaging Het
Smap1 T C 1: 23,888,507 (GRCm39) T253A probably benign Het
Socs5 G T 17: 87,441,138 (GRCm39) R26L probably benign Het
Steap4 A T 5: 8,026,795 (GRCm39) I253F possibly damaging Het
Tacc1 G A 8: 25,672,803 (GRCm39) H142Y probably benign Het
Tent5c A G 3: 100,380,138 (GRCm39) F206S probably benign Het
Tmem117 G A 15: 94,992,679 (GRCm39) M446I probably benign Het
Trav7-6 G A 14: 53,954,550 (GRCm39) D47N probably benign Het
Trim2 C A 3: 84,100,646 (GRCm39) A162S probably damaging Het
Ttc28 A G 5: 111,373,596 (GRCm39) I1011V possibly damaging Het
Vmn2r98 T C 17: 19,301,425 (GRCm39) V809A probably damaging Het
Wfikkn1 T A 17: 26,097,071 (GRCm39) T418S probably benign Het
Zbtb41 T A 1: 139,356,919 (GRCm39) D391E possibly damaging Het
Zfp109 G A 7: 23,928,635 (GRCm39) S266F probably damaging Het
Other mutations in Slc1a7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01377:Slc1a7 APN 4 107,850,162 (GRCm39) missense probably damaging 1.00
IGL02643:Slc1a7 APN 4 107,869,497 (GRCm39) missense possibly damaging 0.86
IGL03146:Slc1a7 APN 4 107,850,189 (GRCm39) missense probably damaging 0.98
R1023:Slc1a7 UTSW 4 107,864,770 (GRCm39) missense probably damaging 1.00
R1629:Slc1a7 UTSW 4 107,865,340 (GRCm39) missense probably damaging 1.00
R1869:Slc1a7 UTSW 4 107,865,561 (GRCm39) missense probably damaging 1.00
R1957:Slc1a7 UTSW 4 107,825,782 (GRCm39) missense probably benign 0.05
R1970:Slc1a7 UTSW 4 107,825,782 (GRCm39) missense probably benign 0.05
R1971:Slc1a7 UTSW 4 107,825,782 (GRCm39) missense probably benign 0.05
R2058:Slc1a7 UTSW 4 107,861,636 (GRCm39) missense probably benign 0.41
R2201:Slc1a7 UTSW 4 107,850,203 (GRCm39) missense probably damaging 1.00
R2212:Slc1a7 UTSW 4 107,868,191 (GRCm39) missense probably benign 0.02
R3412:Slc1a7 UTSW 4 107,868,191 (GRCm39) missense probably benign 0.02
R3413:Slc1a7 UTSW 4 107,868,191 (GRCm39) missense probably benign 0.02
R3414:Slc1a7 UTSW 4 107,868,191 (GRCm39) missense probably benign 0.02
R3734:Slc1a7 UTSW 4 107,834,841 (GRCm39) missense probably damaging 1.00
R4109:Slc1a7 UTSW 4 107,825,858 (GRCm39) missense probably benign 0.22
R4662:Slc1a7 UTSW 4 107,864,751 (GRCm39) missense probably damaging 1.00
R4676:Slc1a7 UTSW 4 107,834,871 (GRCm39) missense possibly damaging 0.95
R4801:Slc1a7 UTSW 4 107,850,237 (GRCm39) missense probably damaging 1.00
R4802:Slc1a7 UTSW 4 107,850,237 (GRCm39) missense probably damaging 1.00
R4935:Slc1a7 UTSW 4 107,864,758 (GRCm39) missense probably damaging 1.00
R5896:Slc1a7 UTSW 4 107,869,587 (GRCm39) missense probably benign 0.02
R5947:Slc1a7 UTSW 4 107,867,497 (GRCm39) unclassified probably benign
R6056:Slc1a7 UTSW 4 107,869,458 (GRCm39) missense probably benign 0.00
R6088:Slc1a7 UTSW 4 107,869,641 (GRCm39) missense probably damaging 1.00
R6134:Slc1a7 UTSW 4 107,869,633 (GRCm39) missense probably damaging 1.00
R6141:Slc1a7 UTSW 4 107,859,379 (GRCm39) missense possibly damaging 0.50
R7378:Slc1a7 UTSW 4 107,859,400 (GRCm39) missense possibly damaging 0.50
R7587:Slc1a7 UTSW 4 107,867,683 (GRCm39) missense possibly damaging 0.93
R7974:Slc1a7 UTSW 4 107,869,473 (GRCm39) missense probably benign 0.00
R7975:Slc1a7 UTSW 4 107,869,473 (GRCm39) missense probably benign 0.00
R8002:Slc1a7 UTSW 4 107,869,473 (GRCm39) missense probably benign 0.00
R8003:Slc1a7 UTSW 4 107,869,473 (GRCm39) missense probably benign 0.00
R8022:Slc1a7 UTSW 4 107,869,473 (GRCm39) missense probably benign 0.00
R8023:Slc1a7 UTSW 4 107,869,473 (GRCm39) missense probably benign 0.00
R8075:Slc1a7 UTSW 4 107,869,473 (GRCm39) missense probably benign 0.00
R8142:Slc1a7 UTSW 4 107,869,473 (GRCm39) missense probably benign 0.00
R8145:Slc1a7 UTSW 4 107,869,473 (GRCm39) missense probably benign 0.00
R8257:Slc1a7 UTSW 4 107,865,394 (GRCm39) missense possibly damaging 0.95
R9339:Slc1a7 UTSW 4 107,850,237 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATCACACAGTGACAAGGTGC -3'
(R):5'- AGCCACGTTAGCACTCTCAG -3'

Sequencing Primer
(F):5'- GGATCCTGAACTGAACCCGAG -3'
(R):5'- CACTCTCAGTGGTTCTGTGGC -3'
Posted On 2020-07-13