Incidental Mutation 'R2097:Slc7a4'
ID 230336
Institutional Source Beutler Lab
Gene Symbol Slc7a4
Ensembl Gene ENSMUSG00000022756
Gene Name solute carrier family 7 (cationic amino acid transporter, y+ system), member 4
Synonyms
MMRRC Submission 040101-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.472) question?
Stock # R2097 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 17389882-17394619 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to T at 17391319 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000156098 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023441] [ENSMUST00000063544] [ENSMUST00000090165] [ENSMUST00000171002] [ENSMUST00000172164] [ENSMUST00000231283] [ENSMUST00000231552] [ENSMUST00000231615] [ENSMUST00000231645] [ENSMUST00000232186] [ENSMUST00000232385] [ENSMUST00000232226] [ENSMUST00000232336] [ENSMUST00000231806]
AlphaFold Q8BLQ7
Predicted Effect probably benign
Transcript: ENSMUST00000023441
SMART Domains Protein: ENSMUSP00000023441
Gene: ENSMUSG00000022758

DomainStartEndE-ValueType
low complexity region 12 18 N/A INTRINSIC
Pfam:P2X_receptor 25 385 7.9e-139 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000063544
SMART Domains Protein: ENSMUSP00000067243
Gene: ENSMUSG00000022756

DomainStartEndE-ValueType
Pfam:AA_permease_2 37 436 1.4e-49 PFAM
Pfam:AA_permease 41 426 9.4e-38 PFAM
transmembrane domain 476 498 N/A INTRINSIC
transmembrane domain 508 530 N/A INTRINSIC
Pfam:AA_permease_C 540 590 1.4e-23 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000090165
SMART Domains Protein: ENSMUSP00000087627
Gene: ENSMUSG00000022756

DomainStartEndE-ValueType
Pfam:AA_permease_2 37 368 1.2e-42 PFAM
Pfam:AA_permease 41 370 2.7e-34 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000116648
Predicted Effect probably benign
Transcript: ENSMUST00000171002
SMART Domains Protein: ENSMUSP00000132727
Gene: ENSMUSG00000022758

DomainStartEndE-ValueType
low complexity region 12 18 N/A INTRINSIC
Pfam:P2X_receptor 25 197 1e-65 PFAM
Pfam:P2X_receptor 185 362 7e-63 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000172164
SMART Domains Protein: ENSMUSP00000127280
Gene: ENSMUSG00000022756

DomainStartEndE-ValueType
Pfam:AA_permease_2 37 498 2.6e-46 PFAM
Pfam:AA_permease 41 423 4.5e-36 PFAM
transmembrane domain 508 530 N/A INTRINSIC
Pfam:AA_permease_C 540 590 1.5e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000231283
Predicted Effect probably benign
Transcript: ENSMUST00000231552
Predicted Effect probably null
Transcript: ENSMUST00000231615
Predicted Effect probably benign
Transcript: ENSMUST00000231645
Predicted Effect probably benign
Transcript: ENSMUST00000232186
Predicted Effect probably null
Transcript: ENSMUST00000232385
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232429
Predicted Effect probably null
Transcript: ENSMUST00000232226
Predicted Effect probably benign
Transcript: ENSMUST00000232336
Predicted Effect probably benign
Transcript: ENSMUST00000231806
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 100% (43/43)
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr8 T C 14: 29,709,185 (GRCm39) V263A probably damaging Het
Apol6 T A 15: 76,931,333 (GRCm39) probably null Het
Aqp3 C T 4: 41,098,004 (GRCm39) V36M possibly damaging Het
Bace1 G T 9: 45,771,520 (GRCm39) C478F probably benign Het
Bbof1 C A 12: 84,460,081 (GRCm39) A116D probably damaging Het
Casq1 A T 1: 172,037,988 (GRCm39) L381Q probably damaging Het
Ccdc138 T A 10: 58,397,759 (GRCm39) L533* probably null Het
Cdcp3 A T 7: 130,783,693 (GRCm39) R29* probably null Het
Cnga1 C T 5: 72,776,404 (GRCm39) V20I possibly damaging Het
Cntn6 A G 6: 104,838,910 (GRCm39) E988G probably damaging Het
Cts6 T A 13: 61,343,259 (GRCm39) N321Y probably damaging Het
Dnmt1 A G 9: 20,821,084 (GRCm39) S1269P probably benign Het
Dsg4 C A 18: 20,604,101 (GRCm39) P856H probably damaging Het
Fndc3a C A 14: 72,811,791 (GRCm39) probably null Het
Galc T C 12: 98,218,291 (GRCm39) D187G probably benign Het
Gfm1 T C 3: 67,357,079 (GRCm39) I384T probably damaging Het
Hacd2 A G 16: 34,869,090 (GRCm39) I92V probably benign Het
Hmcn2 T A 2: 31,270,431 (GRCm39) Y1223N probably damaging Het
Il20ra T C 10: 19,635,211 (GRCm39) I484T probably damaging Het
Map7 G T 10: 20,122,362 (GRCm39) V143F probably damaging Het
Mcm3ap T C 10: 76,348,323 (GRCm39) L1893P probably damaging Het
Msh6 A G 17: 88,292,844 (GRCm39) N533S probably benign Het
Nbea T C 3: 55,630,638 (GRCm39) D2233G probably damaging Het
Nlrp6 A T 7: 140,503,117 (GRCm39) T408S probably damaging Het
Notch3 A T 17: 32,341,728 (GRCm39) L2008Q probably damaging Het
Odad4 T A 11: 100,454,408 (GRCm39) F398I possibly damaging Het
Or52e19b T A 7: 103,032,840 (GRCm39) D123V probably damaging Het
Or8k20 A T 2: 86,106,383 (GRCm39) Y149* probably null Het
Pggt1b T C 18: 46,379,695 (GRCm39) N296D probably benign Het
Pglyrp3 T A 3: 91,935,478 (GRCm39) F243I possibly damaging Het
Phip T C 9: 82,797,392 (GRCm39) H537R possibly damaging Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Ptpdc1 T A 13: 48,746,135 (GRCm39) probably null Het
Ptprq T C 10: 107,489,354 (GRCm39) T924A probably benign Het
Pwp2 C A 10: 78,013,576 (GRCm39) probably benign Het
Tmem132b T A 5: 125,715,272 (GRCm39) I327K probably damaging Het
Trim9 T C 12: 70,393,933 (GRCm39) M4V probably damaging Het
Tspan13 T C 12: 36,071,829 (GRCm39) S128G probably benign Het
Zbtb20 A G 16: 43,429,882 (GRCm39) D131G probably null Het
Zeb2 A T 2: 44,887,168 (GRCm39) C615S probably damaging Het
Zfp777 C T 6: 48,021,176 (GRCm39) D149N probably benign Het
Zfp990 A G 4: 145,263,892 (GRCm39) K297E possibly damaging Het
Other mutations in Slc7a4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02717:Slc7a4 APN 16 17,392,439 (GRCm39) missense possibly damaging 0.90
R0066:Slc7a4 UTSW 16 17,391,875 (GRCm39) missense probably benign 0.02
R0066:Slc7a4 UTSW 16 17,391,875 (GRCm39) missense probably benign 0.02
R0402:Slc7a4 UTSW 16 17,393,497 (GRCm39) missense probably damaging 1.00
R1426:Slc7a4 UTSW 16 17,391,808 (GRCm39) critical splice donor site probably null
R1926:Slc7a4 UTSW 16 17,393,568 (GRCm39) missense probably damaging 1.00
R2140:Slc7a4 UTSW 16 17,392,408 (GRCm39) missense possibly damaging 0.91
R4496:Slc7a4 UTSW 16 17,393,676 (GRCm39) missense probably damaging 1.00
R4548:Slc7a4 UTSW 16 17,393,209 (GRCm39) missense probably benign 0.01
R4570:Slc7a4 UTSW 16 17,392,141 (GRCm39) missense probably benign 0.00
R4631:Slc7a4 UTSW 16 17,392,255 (GRCm39) missense probably damaging 1.00
R4658:Slc7a4 UTSW 16 17,393,797 (GRCm39) missense probably damaging 1.00
R4825:Slc7a4 UTSW 16 17,392,385 (GRCm39) missense probably damaging 1.00
R5102:Slc7a4 UTSW 16 17,393,482 (GRCm39) missense probably damaging 1.00
R5364:Slc7a4 UTSW 16 17,391,227 (GRCm39) missense probably benign 0.33
R5650:Slc7a4 UTSW 16 17,393,548 (GRCm39) missense possibly damaging 0.94
R5666:Slc7a4 UTSW 16 17,393,815 (GRCm39) utr 5 prime probably benign
R5944:Slc7a4 UTSW 16 17,392,220 (GRCm39) missense possibly damaging 0.95
R6769:Slc7a4 UTSW 16 17,393,184 (GRCm39) missense possibly damaging 0.72
R7381:Slc7a4 UTSW 16 17,392,920 (GRCm39) missense probably damaging 0.99
R7470:Slc7a4 UTSW 16 17,392,977 (GRCm39) missense probably benign 0.07
R7903:Slc7a4 UTSW 16 17,393,145 (GRCm39) missense probably benign 0.00
R7922:Slc7a4 UTSW 16 17,391,230 (GRCm39) missense probably benign 0.36
R8003:Slc7a4 UTSW 16 17,392,315 (GRCm39) missense possibly damaging 0.94
R9300:Slc7a4 UTSW 16 17,392,399 (GRCm39) missense probably benign 0.22
R9452:Slc7a4 UTSW 16 17,391,271 (GRCm39) missense probably damaging 0.98
R9569:Slc7a4 UTSW 16 17,393,262 (GRCm39) missense
R9674:Slc7a4 UTSW 16 17,392,208 (GRCm39) missense probably benign 0.00
Predicted Primers
Posted On 2014-09-18