Incidental Mutation 'R8145:Slc1a7'
ID 632733
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 067573-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # R8145 (G1)
Quality Score 211.009
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: 99.7%
  • 3x: 99.5%
  • 10x: 97.9%
  • 20x: 90.4%
Validation Efficiency 100% (79/79)
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alg6 A T 4: 99,634,564 (GRCm39) D273V probably damaging Het
Ankk1 T A 9: 49,327,097 (GRCm39) H694L possibly damaging Het
Asb7 G T 7: 66,309,696 (GRCm39) N173K probably benign Het
Atp10b A T 11: 43,092,949 (GRCm39) Q428L probably damaging Het
Bag3 A G 7: 128,147,612 (GRCm39) E409G possibly damaging Het
Bltp1 T C 3: 37,052,416 (GRCm39) S3039P probably damaging Het
Bpifb2 T A 2: 153,733,232 (GRCm39) V398E probably damaging Het
Btf3l4b A T 13: 96,217,649 (GRCm39) D63E probably benign Het
Ccr6 T C 17: 8,474,945 (GRCm39) V50A probably benign Het
Cdcp3 G T 7: 130,898,045 (GRCm39) V2088L unknown Het
Cdx1 T C 18: 61,152,995 (GRCm39) N204D probably damaging Het
Ciao1 T C 2: 127,087,726 (GRCm39) D203G possibly damaging Het
Cldn7 A T 11: 69,856,892 (GRCm39) Y47F possibly damaging Het
Col6a1 A T 10: 76,559,305 (GRCm39) D110E possibly damaging Het
Cpne6 C A 14: 55,752,025 (GRCm39) Q261K probably benign Het
Crebbp T C 16: 3,946,389 (GRCm39) T497A probably benign Het
Cyp2s1 A G 7: 25,507,467 (GRCm39) probably null Het
Ddx42 A T 11: 106,130,887 (GRCm39) I454F possibly damaging Het
Ddx5 G T 11: 106,672,911 (GRCm39) A538E probably benign Het
Dnajb1 T A 8: 84,336,944 (GRCm39) V238D probably damaging Het
Dntt A G 19: 41,044,224 (GRCm39) Y463C probably damaging Het
Eif4b A G 15: 102,001,423 (GRCm39) T437A unknown Het
Eppk1 T C 15: 75,990,900 (GRCm39) T1994A possibly damaging Het
Fbxw15 A T 9: 109,384,658 (GRCm39) C381S probably benign Het
Fosl2 T A 5: 32,310,412 (GRCm39) V287D probably damaging Het
Gdpd4 A G 7: 97,690,077 (GRCm39) T590A probably benign Het
Gm49368 A G 7: 127,712,487 (GRCm39) E877G probably null Het
Grin2b C T 6: 135,709,497 (GRCm39) A1350T probably benign Het
Gzmk A G 13: 113,308,430 (GRCm39) L257P probably damaging Het
Has2 T A 15: 56,545,175 (GRCm39) K142N probably benign Het
Hectd1 T C 12: 51,831,016 (GRCm39) E944G possibly damaging Het
Hmcn1 T C 1: 150,629,411 (GRCm39) R949G probably benign Het
Hmcn2 A G 2: 31,313,117 (GRCm39) E3442G probably damaging Het
Irf9 T A 14: 55,843,255 (GRCm39) C152* probably null Het
Itga3 A G 11: 94,943,290 (GRCm39) W936R probably damaging Het
Klhl11 G T 11: 100,354,740 (GRCm39) D360E probably damaging Het
Lnx1 G A 5: 74,846,060 (GRCm39) T130I probably benign Het
Lrrc36 C T 8: 106,170,396 (GRCm39) P82L probably damaging Het
Map4k4 T C 1: 40,039,694 (GRCm39) C29R Het
Mki67 T C 7: 135,296,065 (GRCm39) K2990E probably benign Het
Mnt G A 11: 74,733,799 (GRCm39) A477T unknown Het
Mroh9 A G 1: 162,890,096 (GRCm39) S214P probably benign Het
Mrps18b C A 17: 36,225,293 (GRCm39) R94L possibly damaging Het
Myh6 T A 14: 55,191,382 (GRCm39) I820F probably benign Het
Nphp3 A G 9: 103,913,050 (GRCm39) T943A probably benign Het
Or51a25 C A 7: 102,372,937 (GRCm39) L253F probably damaging Het
Or52b4i A G 7: 102,191,830 (GRCm39) H229R probably benign Het
Papolb T C 5: 142,514,353 (GRCm39) D430G probably benign Het
Pdzd2 T C 15: 12,407,458 (GRCm39) H334R probably benign Het
Pkd1l2 T A 8: 117,781,742 (GRCm39) M768L probably benign Het
Pklr G T 3: 89,052,795 (GRCm39) R547L probably benign Het
Pla2g4a T C 1: 149,716,394 (GRCm39) Y697C probably benign Het
Prkcd T C 14: 30,324,019 (GRCm39) T435A probably benign Het
Rfx1 C T 8: 84,800,657 (GRCm39) P86L probably benign Het
Rnf19b C A 4: 128,977,862 (GRCm39) A693D probably benign Het
Scn9a A G 2: 66,317,754 (GRCm39) I1578T probably damaging Het
Slamf9 A G 1: 172,303,942 (GRCm39) S96G probably benign Het
Slc17a8 T C 10: 89,412,233 (GRCm39) D584G probably benign Het
Slc2a7 C A 4: 150,252,818 (GRCm39) T486K probably damaging Het
Slc6a20a G A 9: 123,466,065 (GRCm39) A592V probably damaging Het
Spz1 T C 13: 92,711,609 (GRCm39) D289G probably benign Het
Sspo G A 6: 48,444,683 (GRCm39) C2226Y possibly damaging Het
Taf4b T G 18: 14,963,085 (GRCm39) D608E probably damaging Het
Tagap1 A T 17: 7,223,526 (GRCm39) I390N probably damaging Het
Tcp11l2 A G 10: 84,444,480 (GRCm39) N430D probably damaging Het
Thsd7b T C 1: 129,688,036 (GRCm39) L649P probably damaging Het
Tmprss15 C T 16: 78,757,473 (GRCm39) G956R probably damaging Het
Tnc G T 4: 63,935,716 (GRCm39) Q407K probably benign Het
Tti1 C A 2: 157,849,509 (GRCm39) E577* probably null Het
Vmn2r79 A T 7: 86,686,862 (GRCm39) M748L probably benign Het
Zbtb37 C T 1: 160,847,654 (GRCm39) R451Q probably damaging Het
Zfp1002 T C 2: 150,096,455 (GRCm39) K325E probably benign Het
Zfp566 A T 7: 29,777,785 (GRCm39) I132N probably benign Het
Zik1 C T 7: 10,223,930 (GRCm39) G389E probably damaging Het
Zzef1 A T 11: 72,799,295 (GRCm39) K2382* probably null 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
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'- GCCTAAGGGACAGAGATCATATAATC -3'
(R):5'- ACGTTGGTCTCTAGCTCACTG -3'

Sequencing Primer
(F):5'- AGGGACAGAGATCATATAATCTGTTC -3'
(R):5'- GATCTCAATAGTACAGTGGTCTAGGC -3'
Posted On 2020-06-30