Incidental Mutation 'IGL02717:Slc7a4'
ID304812
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc7a4
Ensembl Gene ENSMUSG00000022756
Gene Namesolute carrier family 7 (cationic amino acid transporter, y+ system), member 4
Synonyms
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.551) question?
Stock #IGL02717
Quality Score
Status
Chromosome16
Chromosomal Location17572018-17583214 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 17574575 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 332 (V332I)
Ref Sequence ENSEMBL: ENSMUSP00000156166 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023441] [ENSMUST00000063544] [ENSMUST00000090165] [ENSMUST00000168383] [ENSMUST00000171002] [ENSMUST00000172164] [ENSMUST00000231283] [ENSMUST00000231552] [ENSMUST00000231615] [ENSMUST00000231645] [ENSMUST00000231806] [ENSMUST00000232186] [ENSMUST00000232226] [ENSMUST00000232336] [ENSMUST00000232385]
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 possibly damaging
Transcript: ENSMUST00000063544
AA Change: V332I

PolyPhen 2 Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000067243
Gene: ENSMUSG00000022756
AA Change: V332I

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 possibly damaging
Transcript: ENSMUST00000090165
AA Change: V332I

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000087627
Gene: ENSMUSG00000022756
AA Change: V332I

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: ENSMUST00000168383
SMART Domains Protein: ENSMUSP00000130079
Gene: ENSMUSG00000022758

DomainStartEndE-ValueType
low complexity region 12 18 N/A INTRINSIC
Pfam:P2X_receptor 25 266 4.2e-95 PFAM
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 possibly damaging
Transcript: ENSMUST00000172164
AA Change: V332I

PolyPhen 2 Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000127280
Gene: ENSMUSG00000022756
AA Change: V332I

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 unknown
Transcript: ENSMUST00000231615
AA Change: V127I
Predicted Effect probably benign
Transcript: ENSMUST00000231645
Predicted Effect probably benign
Transcript: ENSMUST00000231806
Predicted Effect probably benign
Transcript: ENSMUST00000232186
Predicted Effect possibly damaging
Transcript: ENSMUST00000232226
AA Change: V332I

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect probably benign
Transcript: ENSMUST00000232336
Predicted Effect unknown
Transcript: ENSMUST00000232385
AA Change: V127I
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232429
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd4 G A 14: 54,261,622 probably benign Het
Adgra1 A T 7: 139,876,178 N574I probably damaging Het
Agbl2 C T 2: 90,805,868 R583W probably damaging Het
Ahnak A G 19: 9,002,387 D345G probably benign Het
Alpk1 T A 3: 127,681,100 H418L possibly damaging Het
B4gat1 C A 19: 5,038,969 probably benign Het
Cdh18 A T 15: 23,410,715 R429* probably null Het
Chd1l T C 3: 97,583,907 N423S probably damaging Het
Eef1a2 A C 2: 181,152,901 D168E probably benign Het
Eif4g2 A G 7: 111,078,113 I205T probably benign Het
Fam227b T C 2: 126,003,843 I409V probably null Het
Fsip2 A G 2: 82,951,026 probably benign Het
Hadh T C 3: 131,249,910 T52A probably benign Het
Herc1 T A 9: 66,371,921 L37* probably null Het
Hoxc4 A G 15: 103,034,847 E42G possibly damaging Het
Ifna16 T C 4: 88,676,540 D106G possibly damaging Het
Iqgap3 C A 3: 88,098,359 T498K probably benign Het
Kmt2b G A 7: 30,583,444 T1031M probably damaging Het
Olfr1000 A T 2: 85,608,772 I46N probably damaging Het
Olfr736 G T 14: 50,393,647 R297L probably damaging Het
Pilrb1 G A 5: 137,857,951 probably benign Het
Polq T A 16: 37,022,740 V212E probably damaging Het
Ppp4r3b A G 11: 29,173,315 T4A probably benign Het
Scn5a T A 9: 119,529,010 T722S probably benign Het
Taar7b T C 10: 24,000,360 I141T probably damaging Het
Tex45 C T 8: 3,486,970 R439C probably damaging Het
Wrn T C 8: 33,343,573 Y104C probably damaging Het
Other mutations in Slc7a4
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0066:Slc7a4 UTSW 16 17574011 missense probably benign 0.02
R0066:Slc7a4 UTSW 16 17574011 missense probably benign 0.02
R0402:Slc7a4 UTSW 16 17575633 missense probably damaging 1.00
R1426:Slc7a4 UTSW 16 17573944 critical splice donor site probably null
R1926:Slc7a4 UTSW 16 17575704 missense probably damaging 1.00
R2097:Slc7a4 UTSW 16 17573455 splice site probably null
R2140:Slc7a4 UTSW 16 17574544 missense possibly damaging 0.91
R4496:Slc7a4 UTSW 16 17575812 missense probably damaging 1.00
R4548:Slc7a4 UTSW 16 17575345 missense probably benign 0.01
R4570:Slc7a4 UTSW 16 17574277 missense probably benign 0.00
R4631:Slc7a4 UTSW 16 17574391 missense probably damaging 1.00
R4658:Slc7a4 UTSW 16 17575933 missense probably damaging 1.00
R4825:Slc7a4 UTSW 16 17574521 missense probably damaging 1.00
R5102:Slc7a4 UTSW 16 17575618 missense probably damaging 1.00
R5364:Slc7a4 UTSW 16 17573363 missense probably benign 0.33
R5650:Slc7a4 UTSW 16 17575684 missense possibly damaging 0.94
R5666:Slc7a4 UTSW 16 17575951 utr 5 prime probably benign
R5944:Slc7a4 UTSW 16 17574356 missense possibly damaging 0.95
R6769:Slc7a4 UTSW 16 17575320 missense possibly damaging 0.72
R7381:Slc7a4 UTSW 16 17575056 missense probably damaging 0.99
R7470:Slc7a4 UTSW 16 17575113 missense probably benign 0.07
Posted On2015-04-16