Incidental Mutation 'R6776:Slc7a7'
ID 531311
Institutional Source Beutler Lab
Gene Symbol Slc7a7
Ensembl Gene ENSMUSG00000000958
Gene Name solute carrier family 7 (cationic amino acid transporter, y+ system), member 7
Synonyms my+lat1
MMRRC Submission 044892-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6776 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 54606899-54655237 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 54612108 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 265 (G265D)
Ref Sequence ENSEMBL: ENSMUSP00000143743 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000984] [ENSMUST00000000985] [ENSMUST00000195970] [ENSMUST00000197440] [ENSMUST00000200545] [ENSMUST00000226753] [ENSMUST00000228488]
AlphaFold Q9Z1K8
Predicted Effect possibly damaging
Transcript: ENSMUST00000000984
AA Change: G265D

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000000984
Gene: ENSMUSG00000000958
AA Change: G265D

DomainStartEndE-ValueType
Pfam:AA_permease_2 38 463 2e-64 PFAM
Pfam:AA_permease 43 463 6.3e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000000985
SMART Domains Protein: ENSMUSP00000000985
Gene: ENSMUSG00000000959

DomainStartEndE-ValueType
low complexity region 9 20 N/A INTRINSIC
low complexity region 29 41 N/A INTRINSIC
Pfam:60KD_IMP 135 330 4.1e-28 PFAM
low complexity region 406 427 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000195970
AA Change: G265D

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000143091
Gene: ENSMUSG00000000958
AA Change: G265D

DomainStartEndE-ValueType
Pfam:AA_permease_2 38 462 6.4e-66 PFAM
Pfam:AA_permease 43 467 5.3e-31 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000197440
AA Change: G265D

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000143743
Gene: ENSMUSG00000000958
AA Change: G265D

DomainStartEndE-ValueType
Pfam:AA_permease_2 38 463 2e-64 PFAM
Pfam:AA_permease 43 463 6.3e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000200545
SMART Domains Protein: ENSMUSP00000142587
Gene: ENSMUSG00000000958

DomainStartEndE-ValueType
Pfam:Trp_Tyr_perm 36 183 7.5e-5 PFAM
Pfam:AA_permease_2 38 186 4.3e-19 PFAM
Pfam:AA_permease 43 185 2.4e-6 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226753
AA Change: G265D
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228488
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is the light subunit of a cationic amino acid transporter. This sodium-independent transporter is formed when the light subunit encoded by this gene dimerizes with the heavy subunit transporter protein SLC3A2. This transporter is found in epithelial cell membranes where it transfers cationic and large neutral amino acids from the cell to the extracellular space. Defects in this gene are a cause of lysinuric protein intolerance (LPI). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2011]
PHENOTYPE: Homozygous null mice exhibit fetal growth retardation and often die neonatally. After heavy protein ingestion, surviving adults show a metabolic derangement akin to lysinuric protein intolerance and including a lasting postnatal growth retardation, splenomegaly, hyperammonemia, and aminoaciduria. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd13 A G 8: 10,038,075 (GRCm39) H224R probably benign Het
Anapc10 T C 8: 80,446,374 (GRCm39) F68S probably damaging Het
Arid2 A G 15: 96,268,830 (GRCm39) N981S probably benign Het
Bmerb1 T A 16: 13,804,670 (GRCm39) S6T possibly damaging Het
Cfap73 A G 5: 120,772,276 (GRCm39) F9L probably damaging Het
Chd3 A C 11: 69,245,296 (GRCm39) L1141V probably damaging Het
Daam1 C T 12: 72,036,582 (GRCm39) L1052F possibly damaging Het
Dmxl1 C T 18: 50,027,041 (GRCm39) R2050C probably damaging Het
Dpp10 G A 1: 123,295,385 (GRCm39) Q552* probably null Het
Dysf A G 6: 84,041,876 (GRCm39) D160G possibly damaging Het
Ecrg4 C A 1: 43,781,551 (GRCm39) N144K probably damaging Het
Firrm T C 1: 163,804,318 (GRCm39) I338M probably damaging Het
Foxp1 TTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG 6: 99,052,926 (GRCm39) probably benign Het
Ftcd T C 10: 76,425,073 (GRCm39) I518T probably benign Het
Gapdh A G 6: 125,139,236 (GRCm39) S248P probably damaging Het
Gm5592 C G 7: 40,939,153 (GRCm39) P812A probably damaging Het
Grik2 G A 10: 49,232,085 (GRCm39) L482F probably damaging Het
Gzmg C T 14: 56,394,288 (GRCm39) G202D probably damaging Het
Hectd4 G A 5: 121,491,574 (GRCm39) A3671T possibly damaging Het
Hexa G T 9: 59,465,355 (GRCm39) W203C probably damaging Het
Igdcc4 A T 9: 65,042,700 (GRCm39) T1217S probably benign Het
Ipo7 A G 7: 109,646,272 (GRCm39) D557G probably damaging Het
Irx3 T A 8: 92,526,463 (GRCm39) T414S probably benign Het
Jakmip1 G A 5: 37,344,498 (GRCm39) E1313K probably damaging Het
Kbtbd12 T C 6: 88,595,248 (GRCm39) D194G probably damaging Het
Klk6 T C 7: 43,476,298 (GRCm39) L46P probably damaging Het
Krt86 T C 15: 101,374,817 (GRCm39) I329T probably benign Het
Mroh5 A G 15: 73,661,817 (GRCm39) probably null Het
Mtrf1 T C 14: 79,650,521 (GRCm39) V323A probably damaging Het
Oas3 A T 5: 120,896,939 (GRCm39) I894N probably damaging Het
Oplah C T 15: 76,185,053 (GRCm39) V887I possibly damaging Het
Pag1 T C 3: 9,764,848 (GRCm39) T102A probably benign Het
Pcnx1 C T 12: 82,009,496 (GRCm39) A1181V possibly damaging Het
Pkdrej G T 15: 85,701,510 (GRCm39) Y1475* probably null Het
Pla2g5 A G 4: 138,527,964 (GRCm39) S101P probably benign Het
Plekha4 C A 7: 45,184,241 (GRCm39) A76E probably damaging Het
Plk2 T C 13: 110,536,325 (GRCm39) I592T probably benign Het
Ppp2r3c T A 12: 55,345,252 (GRCm39) R79* probably null Het
Ppp2r3d A T 9: 101,090,061 (GRCm39) H87Q probably benign Het
Prpf40b C T 15: 99,212,784 (GRCm39) R627W probably damaging Het
Prrt4 G T 6: 29,176,551 (GRCm39) T258K possibly damaging Het
Rhpn2 T A 7: 35,083,194 (GRCm39) probably null Het
Slc11a1 T A 1: 74,423,244 (GRCm39) I365N probably damaging Het
Thsd7a T A 6: 12,555,636 (GRCm39) T83S possibly damaging Het
Tln2 A G 9: 67,170,187 (GRCm39) S1989P probably damaging Het
Tnfaip3 T G 10: 18,881,324 (GRCm39) T321P probably benign Het
Tnrc6b C T 15: 80,808,320 (GRCm39) P1623L possibly damaging Het
Trpa1 T C 1: 14,982,601 (GRCm39) N85S probably benign Het
Trrap C T 5: 144,788,066 (GRCm39) R3544* probably null Het
Ttf2 A T 3: 100,859,869 (GRCm39) V695E probably benign Het
Ttll4 A G 1: 74,720,512 (GRCm39) E509G probably damaging Het
Vdr T C 15: 97,767,709 (GRCm39) I94V probably damaging Het
Wdfy3 G T 5: 102,031,911 (GRCm39) Q2304K possibly damaging Het
Zfp663 T C 2: 165,200,935 (GRCm39) Y33C probably damaging Het
Other mutations in Slc7a7
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0200:Slc7a7 UTSW 14 54,615,259 (GRCm39) missense probably damaging 1.00
R0331:Slc7a7 UTSW 14 54,615,381 (GRCm39) unclassified probably benign
R0608:Slc7a7 UTSW 14 54,615,259 (GRCm39) missense probably damaging 1.00
R1311:Slc7a7 UTSW 14 54,610,487 (GRCm39) nonsense probably null
R1489:Slc7a7 UTSW 14 54,646,103 (GRCm39) missense probably damaging 1.00
R1490:Slc7a7 UTSW 14 54,646,103 (GRCm39) missense probably damaging 1.00
R4049:Slc7a7 UTSW 14 54,610,548 (GRCm39) critical splice acceptor site probably null
R4731:Slc7a7 UTSW 14 54,646,190 (GRCm39) missense probably damaging 1.00
R4732:Slc7a7 UTSW 14 54,646,190 (GRCm39) missense probably damaging 1.00
R4733:Slc7a7 UTSW 14 54,646,190 (GRCm39) missense probably damaging 1.00
R5562:Slc7a7 UTSW 14 54,646,269 (GRCm39) missense probably benign
R5745:Slc7a7 UTSW 14 54,615,292 (GRCm39) missense possibly damaging 0.46
R5907:Slc7a7 UTSW 14 54,616,560 (GRCm39) missense probably damaging 1.00
R6140:Slc7a7 UTSW 14 54,616,515 (GRCm39) missense probably damaging 1.00
R6366:Slc7a7 UTSW 14 54,612,057 (GRCm39) missense probably damaging 1.00
R6696:Slc7a7 UTSW 14 54,615,218 (GRCm39) splice site probably null
R7310:Slc7a7 UTSW 14 54,616,482 (GRCm39) missense probably damaging 0.99
R7399:Slc7a7 UTSW 14 54,611,725 (GRCm39) missense possibly damaging 0.87
R7903:Slc7a7 UTSW 14 54,611,366 (GRCm39) missense probably damaging 1.00
R8679:Slc7a7 UTSW 14 54,610,449 (GRCm39) missense probably benign 0.31
R8888:Slc7a7 UTSW 14 54,607,293 (GRCm39) missense probably benign
R8895:Slc7a7 UTSW 14 54,607,293 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- AAAGCCCAGTATCCTTGAGTTC -3'
(R):5'- GCTTACGCCAATACTTCAAGGC -3'

Sequencing Primer
(F):5'- AGTATCCTTGAGTTCTTATCAGGC -3'
(R):5'- GGCAACTTCAAAGGCAAAGGACC -3'
Posted On 2018-08-29