Incidental Mutation 'IGL01717:Slc29a4'
ID 104962
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc29a4
Ensembl Gene ENSMUSG00000050822
Gene Name solute carrier family 29 (nucleoside transporters), member 4
Synonyms mPMAT, ENT4
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01717
Quality Score
Status
Chromosome 5
Chromosomal Location 142692512-142722490 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 142718746 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 348 (I348F)
Ref Sequence ENSEMBL: ENSMUSP00000059896 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058418]
AlphaFold Q8R139
Predicted Effect probably damaging
Transcript: ENSMUST00000058418
AA Change: I348F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000059896
Gene: ENSMUSG00000050822
AA Change: I348F

DomainStartEndE-ValueType
transmembrane domain 67 89 N/A INTRINSIC
transmembrane domain 104 126 N/A INTRINSIC
transmembrane domain 138 160 N/A INTRINSIC
Pfam:Nucleoside_tran 170 501 2e-51 PFAM
Meta Mutation Damage Score 0.9131 question?
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the SLC29A/ENT transporter protein family. The encoded membrane protein catalyzes the reuptake of monoamines into presynaptic neurons, thus determining the intensity and duration of monoamine neural signaling. It has been shown to transport several compounds, including serotonin, dopamine, and the neurotoxin 1-methyl-4-phenylpyridinium. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired organic cation and monoamine uptake in the choroid plexus. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik A G 3: 37,034,736 S4112G probably benign Het
Aif1 A T 17: 35,171,555 M73K probably damaging Het
Alk T C 17: 72,603,382 I110V probably benign Het
Aoah T C 13: 20,999,977 S404P probably damaging Het
Bhlhe41 A G 6: 145,863,037 S350P possibly damaging Het
Capn12 A G 7: 28,889,105 D540G probably benign Het
Chd6 A G 2: 160,965,259 Y2012H possibly damaging Het
Col1a1 A G 11: 94,950,777 T1284A unknown Het
Col24a1 T C 3: 145,524,263 probably benign Het
Col4a5 T A X: 141,639,238 V1070D unknown Het
Col6a5 T C 9: 105,940,273 T280A unknown Het
Dicer1 A T 12: 104,702,787 L1212* probably null Het
Gigyf1 T A 5: 137,525,691 V1041E probably damaging Het
Gm4978 C T 9: 69,450,873 probably benign Het
Gnai1 A G 5: 18,291,461 probably null Het
Golgb1 C T 16: 36,915,502 R1704* probably null Het
Incenp A G 19: 9,893,265 probably benign Het
Lrrc39 A T 3: 116,579,497 probably benign Het
Man2a2 T C 7: 80,367,365 K319E probably damaging Het
Neb T C 2: 52,189,867 D83G probably damaging Het
Osbpl6 T C 2: 76,588,594 I732T probably damaging Het
Pacs1 T A 19: 5,167,972 K130N probably damaging Het
Pappa2 A G 1: 158,857,132 probably null Het
Pole2 T C 12: 69,213,849 M186V probably damaging Het
Rwdd4a T C 8: 47,544,105 probably benign Het
Sel1l3 A G 5: 53,200,168 Y161H probably damaging Het
Sf3a2 C T 10: 80,804,692 Q446* probably null Het
Slc26a3 T C 12: 31,463,477 I466T probably benign Het
Tbl1xr1 A G 3: 22,193,171 probably benign Het
Tlr5 A T 1: 182,975,398 I756F probably damaging Het
Ttn T A 2: 76,730,402 L29218F probably damaging Het
Ttn A T 2: 76,730,404 L29218I probably damaging Het
Other mutations in Slc29a4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01317:Slc29a4 APN 5 142705530 missense probably benign 0.02
IGL02184:Slc29a4 APN 5 142717751 missense probably damaging 1.00
IGL02207:Slc29a4 APN 5 142718885 missense possibly damaging 0.76
IGL02210:Slc29a4 APN 5 142718779 missense probably damaging 1.00
IGL02323:Slc29a4 APN 5 142717652 missense probably damaging 0.99
IGL02381:Slc29a4 APN 5 142720099 missense probably benign 0.34
IGL03103:Slc29a4 APN 5 142712080 missense probably damaging 1.00
IGL03210:Slc29a4 APN 5 142715108 missense probably damaging 1.00
R0131:Slc29a4 UTSW 5 142705530 missense probably benign 0.02
R0131:Slc29a4 UTSW 5 142705530 missense probably benign 0.02
R0132:Slc29a4 UTSW 5 142705530 missense probably benign 0.02
R0850:Slc29a4 UTSW 5 142718572 missense probably benign 0.00
R1777:Slc29a4 UTSW 5 142714062 missense probably damaging 0.96
R1864:Slc29a4 UTSW 5 142717754 missense probably damaging 1.00
R1870:Slc29a4 UTSW 5 142721488 makesense probably null
R1871:Slc29a4 UTSW 5 142721488 makesense probably null
R2092:Slc29a4 UTSW 5 142718855 missense probably damaging 1.00
R2196:Slc29a4 UTSW 5 142712895 missense possibly damaging 0.94
R4716:Slc29a4 UTSW 5 142718572 missense probably benign 0.00
R5002:Slc29a4 UTSW 5 142718746 missense probably damaging 1.00
R5162:Slc29a4 UTSW 5 142721452 missense possibly damaging 0.80
R5235:Slc29a4 UTSW 5 142718768 missense probably damaging 1.00
R5553:Slc29a4 UTSW 5 142720036 missense probably damaging 1.00
R5642:Slc29a4 UTSW 5 142711972 missense probably damaging 1.00
R5688:Slc29a4 UTSW 5 142714098 missense possibly damaging 0.68
R5930:Slc29a4 UTSW 5 142721402 missense possibly damaging 0.90
R5944:Slc29a4 UTSW 5 142718818 missense probably damaging 1.00
R6056:Slc29a4 UTSW 5 142720077 missense probably damaging 0.99
R6409:Slc29a4 UTSW 5 142712071 missense probably damaging 1.00
R6934:Slc29a4 UTSW 5 142712958 missense probably benign 0.02
R7508:Slc29a4 UTSW 5 142718506 missense probably benign 0.00
R7509:Slc29a4 UTSW 5 142718506 missense probably benign 0.00
R7716:Slc29a4 UTSW 5 142718506 missense probably benign 0.00
R7910:Slc29a4 UTSW 5 142705401 missense probably benign 0.00
R8351:Slc29a4 UTSW 5 142717829 missense probably benign 0.01
R8408:Slc29a4 UTSW 5 142705354 critical splice acceptor site probably null
R8411:Slc29a4 UTSW 5 142720125 missense probably damaging 1.00
R8749:Slc29a4 UTSW 5 142715064 missense probably damaging 1.00
R8861:Slc29a4 UTSW 5 142718825 missense probably damaging 0.96
R9236:Slc29a4 UTSW 5 142712947 missense probably damaging 0.98
Posted On 2014-01-21