Incidental Mutation 'R0724:Slc7a8'
ID 63829
Institutional Source Beutler Lab
Gene Symbol Slc7a8
Ensembl Gene ENSMUSG00000022180
Gene Name solute carrier family 7 (cationic amino acid transporter, y+ system), member 8
Synonyms LAT2
MMRRC Submission 038906-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.486) question?
Stock # R0724 (G1)
Quality Score 101
Status Validated
Chromosome 14
Chromosomal Location 54722209-54781946 bp(-) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) G to A at 54735186 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000022787 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022787]
AlphaFold Q9QXW9
Predicted Effect probably benign
Transcript: ENSMUST00000022787
SMART Domains Protein: ENSMUSP00000022787
Gene: ENSMUSG00000022180

DomainStartEndE-ValueType
low complexity region 23 32 N/A INTRINSIC
Pfam:AA_permease_2 39 463 8.9e-72 PFAM
Pfam:AA_permease 44 469 5.2e-41 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226646
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.9%
  • 10x: 97.5%
  • 20x: 95.2%
Validation Efficiency 100% (62/62)
MGI Phenotype PHENOTYPE: Mice homozygous for a targeted mutation display hypoactivity, decreased motor performance, and resistance to pharmacologically induced seizures. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018F24Rik A G 5: 145,044,763 E136G probably benign Het
Adgre4 T A 17: 55,852,281 S655R probably benign Het
Ak7 T A 12: 105,710,254 V71E probably benign Het
Ank2 C T 3: 126,962,337 R1077H probably damaging Het
Anxa3 A G 5: 96,828,748 T198A possibly damaging Het
Atp1a1 A T 3: 101,592,439 I109N possibly damaging Het
Camta1 A G 4: 151,077,892 I119T probably damaging Het
Carm1 A G 9: 21,587,374 Y504C probably damaging Het
Casp1 C T 9: 5,303,077 P177L probably benign Het
Ccdc122 C A 14: 77,092,077 probably benign Het
Ces1a A G 8: 93,039,513 S158P probably damaging Het
Ces3a T A 8: 105,050,195 D103E possibly damaging Het
Clstn1 A C 4: 149,643,624 D583A possibly damaging Het
Corin A G 5: 72,332,795 probably benign Het
Cryba1 T C 11: 77,719,457 D144G probably damaging Het
Cwf19l2 G T 9: 3,421,377 probably null Het
Dis3l T C 9: 64,307,126 T1027A possibly damaging Het
Dopey2 A G 16: 93,762,325 E653G probably benign Het
Dst A G 1: 34,188,677 I1459V probably benign Het
Dyrk3 T C 1: 131,130,140 T64A probably benign Het
Emp2 C T 16: 10,284,615 C111Y probably benign Het
Enam A G 5: 88,501,994 Y454C probably damaging Het
Fbn1 A T 2: 125,352,064 C1328S probably benign Het
Gata3 T C 2: 9,874,575 T197A probably benign Het
Gm1043 A G 5: 37,187,229 T212A probably damaging Het
Gm15448 T C 7: 3,816,872 N564S possibly damaging Het
H2-Eb1 T C 17: 34,315,032 probably benign Het
Hand1 T C 11: 57,831,680 H36R probably damaging Het
Hmgcs2 C A 3: 98,297,001 Y239* probably null Het
Hoxc12 A G 15: 102,937,055 Y68C probably damaging Het
Inpp5a A G 7: 139,516,663 I143V probably benign Het
Klhdc2 C A 12: 69,297,048 F18L probably benign Het
Kpnb1 T C 11: 97,178,304 Y251C probably damaging Het
Lrch4 A T 5: 137,637,308 N315I probably damaging Het
Map3k10 A C 7: 27,668,355 V286G probably damaging Het
Myo7b G A 18: 32,005,549 probably benign Het
Nlrp2 G T 7: 5,319,222 L809I probably damaging Het
Oacyl T C 18: 65,737,825 probably benign Het
Olfr735 A G 14: 50,345,917 V175A possibly damaging Het
Paxbp1 T A 16: 91,036,536 D270V probably damaging Het
Pdia3 G A 2: 121,432,377 G275S probably damaging Het
Plcb3 G A 19: 6,963,392 R359C probably damaging Het
Plcxd3 G A 15: 4,516,868 S118N probably damaging Het
Ptpn14 T C 1: 189,850,947 S664P possibly damaging Het
Sirt1 T C 10: 63,323,973 I443V possibly damaging Het
Smim14 A G 5: 65,453,339 probably benign Het
Sost C T 11: 101,966,918 C19Y probably benign Het
Tcaf1 G T 6: 42,675,367 A727E probably damaging Het
Thoc1 T C 18: 9,963,829 L144P probably damaging Het
Tmem132b A T 5: 125,783,421 T577S possibly damaging Het
Tnfrsf21 C T 17: 43,038,213 H239Y probably benign Het
Tshr T C 12: 91,538,286 F666S probably damaging Het
Wdr1 A G 5: 38,540,862 V192A possibly damaging Het
Zfp697 T C 3: 98,428,166 W416R probably damaging Het
Other mutations in Slc7a8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01160:Slc7a8 APN 14 54735124 missense probably benign 0.25
IGL01366:Slc7a8 APN 14 54781188 missense probably damaging 1.00
R0582:Slc7a8 UTSW 14 54758444 missense probably damaging 1.00
R1122:Slc7a8 UTSW 14 54724107 missense probably benign
R1468:Slc7a8 UTSW 14 54733199 missense probably damaging 1.00
R1468:Slc7a8 UTSW 14 54733199 missense probably damaging 1.00
R1667:Slc7a8 UTSW 14 54724849 missense probably damaging 1.00
R2878:Slc7a8 UTSW 14 54759686 missense probably damaging 1.00
R3826:Slc7a8 UTSW 14 54737572 missense probably damaging 1.00
R3938:Slc7a8 UTSW 14 54735841 missense probably benign 0.01
R4513:Slc7a8 UTSW 14 54735790 missense possibly damaging 0.94
R4514:Slc7a8 UTSW 14 54735790 missense possibly damaging 0.94
R4524:Slc7a8 UTSW 14 54737602 missense probably damaging 1.00
R4544:Slc7a8 UTSW 14 54735790 missense possibly damaging 0.94
R4546:Slc7a8 UTSW 14 54735790 missense possibly damaging 0.94
R5179:Slc7a8 UTSW 14 54724832 nonsense probably null
R5395:Slc7a8 UTSW 14 54733277 nonsense probably null
R6144:Slc7a8 UTSW 14 54729340 missense probably damaging 1.00
R6537:Slc7a8 UTSW 14 54735119 missense probably benign 0.03
R7337:Slc7a8 UTSW 14 54726806 missense possibly damaging 0.67
R7404:Slc7a8 UTSW 14 54726826 missense probably damaging 1.00
R7597:Slc7a8 UTSW 14 54781400 start gained probably benign
R8188:Slc7a8 UTSW 14 54735122 missense probably benign 0.00
R8485:Slc7a8 UTSW 14 54724807 missense probably benign 0.15
R8781:Slc7a8 UTSW 14 54759539 critical splice donor site probably benign
R8968:Slc7a8 UTSW 14 54781293 missense probably benign
Predicted Primers PCR Primer
(F):5'- GGCCCCTGAGCAATTTCTTACCAC -3'
(R):5'- TGGAGCCAGGCCCAGCTTTATATC -3'

Sequencing Primer
(F):5'- TTACCACAGCAACTGCATTGG -3'
(R):5'- TGCAGGGTCCAAATCTGAGTC -3'
Posted On 2013-07-30