Incidental Mutation 'R8003:Slc1a7'
ID 616445
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 046043-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # R8003 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 107825603-107870726 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 107869473 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 513 (V513M)
Ref Sequence ENSEMBL: ENSMUSP00000102324 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044248] [ENSMUST00000106708] [ENSMUST00000106709] [ENSMUST00000106713] [ENSMUST00000146851]
AlphaFold Q8JZR4
Predicted Effect probably benign
Transcript: ENSMUST00000044248
SMART Domains Protein: ENSMUSP00000048962
Gene: ENSMUSG00000028600

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
low complexity region 40 49 N/A INTRINSIC
LRRNT 68 101 4.34e-5 SMART
LRR_TYP 120 145 2.05e-2 SMART
LRR 146 169 1.19e1 SMART
LRR 192 216 2.84e1 SMART
LRR 239 261 6.22e0 SMART
LRR 262 287 3.47e0 SMART
LRR_TYP 288 311 7.9e-4 SMART
LRR 333 358 1.26e1 SMART
LRR 359 382 2.82e0 SMART
LRR 407 429 1.53e2 SMART
LRR_TYP 430 453 7.37e-4 SMART
LRR 475 500 1.66e1 SMART
LRR 501 522 1.29e1 SMART
LRR_TYP 523 545 7.67e-2 SMART
low complexity region 594 609 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106708
SMART Domains Protein: ENSMUSP00000102319
Gene: ENSMUSG00000028600

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
low complexity region 40 49 N/A INTRINSIC
LRRNT 68 101 4.34e-5 SMART
LRR_TYP 120 145 2.05e-2 SMART
LRR 146 169 1.19e1 SMART
LRR 192 216 2.84e1 SMART
LRR 239 261 6.22e0 SMART
LRR 262 287 3.47e0 SMART
LRR_TYP 288 311 7.9e-4 SMART
LRR 333 358 1.26e1 SMART
LRR 359 382 2.82e0 SMART
LRR 407 429 1.53e2 SMART
LRR_TYP 430 453 7.37e-4 SMART
LRR 475 500 1.66e1 SMART
LRR 501 522 1.29e1 SMART
LRR_TYP 523 545 7.67e-2 SMART
low complexity region 594 609 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106709
SMART Domains Protein: ENSMUSP00000102320
Gene: ENSMUSG00000028600

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
low complexity region 40 49 N/A INTRINSIC
LRRNT 68 101 4.34e-5 SMART
LRR_TYP 120 145 2.05e-2 SMART
LRR 146 169 1.19e1 SMART
LRR 192 216 2.84e1 SMART
LRR 239 261 6.22e0 SMART
LRR 262 287 3.47e0 SMART
LRR_TYP 288 311 7.9e-4 SMART
LRR 333 358 1.26e1 SMART
LRR 359 382 2.82e0 SMART
LRR 407 429 1.53e2 SMART
LRR_TYP 430 453 7.37e-4 SMART
LRR 475 500 1.66e1 SMART
LRR 501 522 1.29e1 SMART
LRR_TYP 523 545 7.67e-2 SMART
low complexity region 594 609 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106713
AA Change: V513M

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000102324
Gene: ENSMUSG00000008932
AA Change: V513M

DomainStartEndE-ValueType
Pfam:SDF 29 485 1.9e-127 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000146851
SMART Domains Protein: ENSMUSP00000121478
Gene: ENSMUSG00000028600

DomainStartEndE-ValueType
LRR 1 24 1.19e1 SMART
LRR 47 71 2.84e1 SMART
LRR 94 116 6.22e0 SMART
LRR 117 142 3.47e0 SMART
LRR_TYP 143 166 7.9e-4 SMART
LRR 188 213 1.26e1 SMART
LRR 214 237 2.82e0 SMART
LRR 262 284 1.53e2 SMART
LRR_TYP 285 308 7.37e-4 SMART
low complexity region 319 334 N/A INTRINSIC
low complexity region 359 364 N/A INTRINSIC
Meta Mutation Damage Score 0.0621 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (51/51)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy4 A G 14: 56,019,092 (GRCm39) V155A probably benign Het
Arfgef2 A G 2: 166,695,208 (GRCm39) Y527C probably damaging Het
Brca1 C T 11: 101,415,303 (GRCm39) G944R probably benign Het
C2cd2 A G 16: 97,687,286 (GRCm39) probably null Het
Cass4 T C 2: 172,269,879 (GRCm39) F654L unknown Het
Ccdc178 A T 18: 21,977,944 (GRCm39) probably null Het
Cct4 T C 11: 22,946,040 (GRCm39) probably null Het
Cish T C 9: 107,174,227 (GRCm39) V5A possibly damaging Het
Col5a1 G A 2: 27,848,340 (GRCm39) probably benign Het
Col6a3 G T 1: 90,703,455 (GRCm39) N3037K unknown Het
Csmd2 T A 4: 128,432,980 (GRCm39) C3012* probably null Het
Dclk2 T C 3: 86,700,608 (GRCm39) probably null Het
Dhx38 A T 8: 110,282,772 (GRCm39) D631E probably damaging Het
Eif2ak2 C A 17: 79,183,652 (GRCm39) A66S probably damaging Het
Ephx2 A G 14: 66,361,782 (GRCm39) probably null Het
Fbxw10 T G 11: 62,748,587 (GRCm39) C405G possibly damaging Het
Galnt13 G T 2: 54,950,497 (GRCm39) G393* probably null Het
Gm5591 G T 7: 38,219,183 (GRCm39) H563Q probably damaging Het
Gtf3c5 A G 2: 28,459,373 (GRCm39) I394T probably benign Het
Hectd4 G A 5: 121,477,581 (GRCm39) A2835T possibly damaging Het
Herc2 A G 7: 55,818,652 (GRCm39) D2781G possibly damaging Het
Kmt2b G T 7: 30,268,802 (GRCm39) H2642Q probably damaging Het
Lars1 A T 18: 42,354,684 (GRCm39) D754E probably damaging Het
Lrpprc A C 17: 85,059,745 (GRCm39) S690A probably benign Het
Map3k6 A G 4: 132,976,193 (GRCm39) T805A probably benign Het
Mthfd1l T G 10: 3,934,147 (GRCm39) S160A probably benign Het
Mtmr6 G A 14: 60,519,544 (GRCm39) probably null Het
Mybpc2 A T 7: 44,158,488 (GRCm39) M698K probably damaging Het
Myh8 T A 11: 67,190,586 (GRCm39) L1304M probably damaging Het
Mylip T A 13: 45,557,947 (GRCm39) V117E probably benign Het
Npc1l1 T C 11: 6,165,129 (GRCm39) Q1061R probably benign Het
Or12e13 A G 2: 87,664,081 (GRCm39) R233G probably benign Het
Or5d37 A T 2: 87,923,589 (GRCm39) Y230* probably null Het
Pkd2l2 G A 18: 34,561,232 (GRCm39) M413I probably damaging Het
Plch2 C T 4: 155,138,980 (GRCm39) G19D unknown Het
Pramel17 T C 4: 101,693,130 (GRCm39) K290R probably benign Het
Psg22 A C 7: 18,458,350 (GRCm39) Y347S probably damaging Het
Ptpre C A 7: 135,270,765 (GRCm39) Q314K probably damaging Het
Rgs6 T C 12: 83,032,144 (GRCm39) S54P probably damaging Het
Sbds C A 5: 130,279,726 (GRCm39) V130F possibly damaging Het
Slc24a2 A T 4: 87,094,552 (GRCm39) D322E probably benign Het
Slc45a4 G T 15: 73,457,162 (GRCm39) Y585* probably null Het
Slc7a4 A C 16: 17,392,315 (GRCm39) V373G possibly damaging Het
Sulf1 G A 1: 12,908,825 (GRCm39) V613M probably damaging Het
Syt1 T C 10: 108,472,434 (GRCm39) D150G probably damaging Het
Tnpo3 C A 6: 29,551,900 (GRCm39) V888F probably benign Het
Trim9 T C 12: 70,393,608 (GRCm39) H112R probably benign Het
Vmn2r80 T C 10: 78,984,711 (GRCm39) I21T probably benign Het
Wdr41 C A 13: 95,149,654 (GRCm39) A286E possibly damaging Het
Wnt8b T A 19: 44,500,396 (GRCm39) C328S probably damaging Het
Ybx3 A T 6: 131,345,400 (GRCm39) Y324* probably null Het
Zmynd15 T A 11: 70,351,767 (GRCm39) H124Q probably benign 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
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
R8205:Slc1a7 UTSW 4 107,865,508 (GRCm39) missense probably benign 0.12
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'- CCTAAGGGACAGAGATCATATAATCTG -3'
(R):5'- ACACGTTGGTCTCTAGCTCAC -3'

Sequencing Primer
(F):5'- AGATCATATAATCTGTTCTAGGTGGG -3'
(R):5'- GCTCACTGATCTCAATAGTACAGTGG -3'
Posted On 2020-01-23