Incidental Mutation 'R5719:Slc7a5'
ID 451353
Institutional Source Beutler Lab
Gene Symbol Slc7a5
Ensembl Gene ENSMUSG00000040010
Gene Name solute carrier family 7 (cationic amino acid transporter, y+ system), member 5
Synonyms D0H16S474E, Gm42049, TA1, LAT1
MMRRC Submission 043339-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5719 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 122607885-122634425 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 122610381 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Valine at position 478 (F478V)
Ref Sequence ENSEMBL: ENSMUSP00000041557 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045557] [ENSMUST00000127664]
AlphaFold Q9Z127
Predicted Effect probably benign
Transcript: ENSMUST00000045557
AA Change: F478V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000041557
Gene: ENSMUSG00000040010
AA Change: F478V

DomainStartEndE-ValueType
low complexity region 4 27 N/A INTRINSIC
Pfam:AA_permease_2 51 481 4.2e-65 PFAM
Pfam:AA_permease 56 489 1.6e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127664
SMART Domains Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

DomainStartEndE-ValueType
Pfam:Glycos_transf_2 104 287 7.4e-31 PFAM
Pfam:Glyco_transf_7C 261 331 4.9e-8 PFAM
RICIN 406 531 9.28e-27 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182165
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183015
Meta Mutation Damage Score 0.2250 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 98% (79/81)
MGI Phenotype PHENOTYPE: Mice homozygous for a targeted mutation die prenatally. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A130051J06Rik C T 15: 95,688,641 (GRCm39) probably benign Het
A630001G21Rik T A 1: 85,651,106 (GRCm39) R110W probably benign Het
Abca4 T C 3: 121,928,915 (GRCm39) probably null Het
Abcc3 T C 11: 94,241,894 (GRCm39) N1379S probably damaging Het
Actrt3 A C 3: 30,652,276 (GRCm39) F273V probably benign Het
Adam22 T C 5: 8,417,217 (GRCm39) D75G probably benign Het
Ash1l C A 3: 88,961,805 (GRCm39) D2392E possibly damaging Het
Ash1l T C 3: 88,965,933 (GRCm39) I2445T probably damaging Het
Bltp2 T A 11: 78,164,071 (GRCm39) H1137Q probably damaging Het
Cacna2d2 A G 9: 107,401,851 (GRCm39) I762V probably benign Het
Ccdc127 T A 13: 74,505,187 (GRCm39) probably benign Het
Ccdc91 C G 6: 147,477,001 (GRCm39) L230V unknown Het
Cdk13 A G 13: 17,894,240 (GRCm39) I1129T probably damaging Het
Cnot1 C T 8: 96,470,924 (GRCm39) R1308H possibly damaging Het
Crhr2 T C 6: 55,080,207 (GRCm39) H144R probably damaging Het
Dnmt1 T C 9: 20,823,891 (GRCm39) N993S possibly damaging Het
Eif4g1 T A 16: 20,507,761 (GRCm39) V1182D probably damaging Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Fam234a T A 17: 26,433,627 (GRCm39) Q399L possibly damaging Het
Fyb1 A T 15: 6,610,350 (GRCm39) K308* probably null Het
Gfral C T 9: 76,104,328 (GRCm39) R228Q probably benign Het
Gm10309 A T 17: 86,806,421 (GRCm39) probably benign Het
Gm11595 G A 11: 99,663,381 (GRCm39) R100C unknown Het
Gm5501 G A 18: 9,917,417 (GRCm39) noncoding transcript Het
Gm6309 A T 5: 146,104,992 (GRCm39) V307D probably benign Het
Gm9871 T A 6: 101,773,148 (GRCm39) noncoding transcript Het
Greb1l G A 18: 10,542,427 (GRCm39) E1341K probably damaging Het
Herc3 T A 6: 58,871,528 (GRCm39) V70E possibly damaging Het
Hes7 A G 11: 69,012,415 (GRCm39) E41G probably damaging Het
Ifi27l2b T C 12: 103,422,046 (GRCm39) D106G unknown Het
Igfbp6 A T 15: 102,056,616 (GRCm39) Y184F probably damaging Het
Isyna1 A G 8: 71,047,352 (GRCm39) Y25C probably damaging Het
Kcng3 G T 17: 83,938,563 (GRCm39) T162K possibly damaging Het
Krt36 T C 11: 99,994,987 (GRCm39) D195G possibly damaging Het
Lrwd1 A T 5: 136,161,093 (GRCm39) probably null Het
Lsg1 C T 16: 30,380,593 (GRCm39) A615T probably benign Het
Myo5a A T 9: 75,059,213 (GRCm39) E480D probably damaging Het
Myrf T A 19: 10,194,087 (GRCm39) D690V probably damaging Het
N4bp1 T C 8: 87,578,312 (GRCm39) I684M probably damaging Het
Nlrc3 C T 16: 3,781,589 (GRCm39) A607T probably damaging Het
Nuak1 A T 10: 84,245,584 (GRCm39) I87N probably damaging Het
Odad2 G T 18: 7,211,496 (GRCm39) Q793K probably benign Het
Or5p66 T G 7: 107,885,599 (GRCm39) T245P probably damaging Het
Or5w11 T C 2: 87,459,475 (GRCm39) probably null Het
Or8b4 A T 9: 37,830,647 (GRCm39) E236D probably damaging Het
Osbpl9 T A 4: 108,919,763 (GRCm39) R689* probably null Het
Ppargc1b T A 18: 61,440,639 (GRCm39) M744L probably benign Het
Prss40 A T 1: 34,591,598 (GRCm39) probably benign Het
Ptprd T A 4: 75,972,839 (GRCm39) probably null Het
Rft1 T C 14: 30,385,183 (GRCm39) probably benign Het
Rftn2 C T 1: 55,253,445 (GRCm39) V53I probably damaging Het
Rnaset2a T C 17: 8,350,879 (GRCm39) Y167C probably damaging Het
Schip1 T C 3: 68,315,560 (GRCm39) probably benign Het
Scn5a A C 9: 119,359,118 (GRCm39) L643R possibly damaging Het
Shroom3 T A 5: 93,090,877 (GRCm39) M1128K probably benign Het
Skint8 C A 4: 111,807,390 (GRCm39) L359M probably damaging Het
Slc14a2 A G 18: 78,252,257 (GRCm39) L18P probably benign Het
Slc22a3 C T 17: 12,642,691 (GRCm39) V509M probably damaging Het
Smc1b T A 15: 84,980,859 (GRCm39) N803I probably benign Het
Snf8 T A 11: 95,932,551 (GRCm39) N115K probably damaging Het
Stox2 T A 8: 47,866,172 (GRCm39) K57* probably null Het
Tmem248 T A 5: 130,258,429 (GRCm39) F41I probably damaging Het
Tmprss7 T C 16: 45,506,793 (GRCm39) S90G probably damaging Het
Top3b T C 16: 16,703,700 (GRCm39) V285A probably damaging Het
Tsen15 T C 1: 152,247,534 (GRCm39) T153A probably damaging Het
Usp34 T G 11: 23,304,846 (GRCm39) S360A probably benign Het
Wdr24 T C 17: 26,047,314 (GRCm39) probably null Het
Zbtb2 G A 10: 4,319,456 (GRCm39) T190I probably benign Het
Zranb3 T C 1: 127,891,613 (GRCm39) S788G probably benign Het
Other mutations in Slc7a5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02192:Slc7a5 APN 8 122,613,129 (GRCm39) intron probably benign
R0364:Slc7a5 UTSW 8 122,611,754 (GRCm39) missense probably benign
R0580:Slc7a5 UTSW 8 122,611,855 (GRCm39) missense probably benign 0.21
R0965:Slc7a5 UTSW 8 122,633,840 (GRCm39) missense probably benign 0.01
R1274:Slc7a5 UTSW 8 122,610,453 (GRCm39) missense probably benign 0.44
R2135:Slc7a5 UTSW 8 122,610,444 (GRCm39) missense probably null 0.96
R4163:Slc7a5 UTSW 8 122,615,139 (GRCm39) missense probably benign 0.00
R4506:Slc7a5 UTSW 8 122,614,234 (GRCm39) critical splice donor site probably null
R4910:Slc7a5 UTSW 8 122,611,861 (GRCm39) missense probably damaging 0.96
R5243:Slc7a5 UTSW 8 122,623,274 (GRCm39) missense probably damaging 1.00
R5449:Slc7a5 UTSW 8 122,613,087 (GRCm39) missense probably damaging 1.00
R5744:Slc7a5 UTSW 8 122,615,121 (GRCm39) missense probably benign 0.00
R7473:Slc7a5 UTSW 8 122,615,162 (GRCm39) missense probably benign
R7499:Slc7a5 UTSW 8 122,610,461 (GRCm39) missense probably damaging 1.00
R7663:Slc7a5 UTSW 8 122,614,274 (GRCm39) nonsense probably null
R7680:Slc7a5 UTSW 8 122,634,006 (GRCm39) missense probably damaging 1.00
R7682:Slc7a5 UTSW 8 122,633,879 (GRCm39) missense probably damaging 0.99
R8382:Slc7a5 UTSW 8 122,612,691 (GRCm39) missense probably damaging 1.00
R8405:Slc7a5 UTSW 8 122,613,661 (GRCm39) missense possibly damaging 0.89
R8551:Slc7a5 UTSW 8 122,613,050 (GRCm39) missense probably damaging 0.99
R9513:Slc7a5 UTSW 8 122,613,616 (GRCm39) missense probably benign 0.00
R9727:Slc7a5 UTSW 8 122,613,085 (GRCm39) missense probably benign 0.35
Predicted Primers PCR Primer
(F):5'- TGTGCAAACCCTTGGCTTG -3'
(R):5'- ACCCGAAAGAAGATGATGGCTC -3'

Sequencing Primer
(F):5'- TTGGCTTGCACCACGAAG -3'
(R):5'- AAGAGGTGGGAGCCTTCCAC -3'
Posted On 2017-01-03