Incidental Mutation 'R2196:Slc29a4'
ID 238354
Institutional Source Beutler Lab
Gene Symbol Slc29a4
Ensembl Gene ENSMUSG00000050822
Gene Name solute carrier family 29 (nucleoside transporters), member 4
Synonyms ENT4, mPMAT
MMRRC Submission 040198-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2196 (G1)
Quality Score 176
Status Not validated
Chromosome 5
Chromosomal Location 142678267-142708245 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 142698650 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 104 (I104L)
Ref Sequence ENSEMBL: ENSMUSP00000142674 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058418] [ENSMUST00000198728]
AlphaFold Q8R139
Predicted Effect possibly damaging
Transcript: ENSMUST00000058418
AA Change: I104L

PolyPhen 2 Score 0.624 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000059896
Gene: ENSMUSG00000050822
AA Change: I104L

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
Predicted Effect possibly damaging
Transcript: ENSMUST00000198728
AA Change: I104L

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000142674
Gene: ENSMUSG00000050822
AA Change: I104L

DomainStartEndE-ValueType
transmembrane domain 67 89 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn2 T A 13: 12,290,065 (GRCm39) T734S probably damaging Het
Acvr2a A T 2: 48,760,324 (GRCm39) T27S possibly damaging Het
Ankhd1 T A 18: 36,781,432 (GRCm39) N2161K probably damaging Het
Apba3 A G 10: 81,107,542 (GRCm39) Y350C probably damaging Het
Bnipl T A 3: 95,157,181 (GRCm39) R47S possibly damaging Het
Cacna1b C T 2: 24,651,800 (GRCm39) M126I probably damaging Het
Cep112 G A 11: 108,461,187 (GRCm39) E329K probably damaging Het
Cep55 T A 19: 38,057,558 (GRCm39) Y187N probably damaging Het
Cngb3 T C 4: 19,415,690 (GRCm39) I400T possibly damaging Het
Csad T C 15: 102,096,028 (GRCm39) N142D probably benign Het
Dars1 A T 1: 128,306,595 (GRCm39) I195N probably damaging Het
Dmxl1 T A 18: 50,050,698 (GRCm39) L2454Q probably benign Het
Emc1 A T 4: 139,093,841 (GRCm39) E650D probably benign Het
Enam A G 5: 88,650,603 (GRCm39) D704G probably damaging Het
Fat1 T A 8: 45,477,683 (GRCm39) I2220N probably damaging Het
Fat4 T C 3: 39,035,566 (GRCm39) S3073P probably benign Het
Fbxl4 T C 4: 22,403,624 (GRCm39) M399T probably benign Het
Gcsh G A 8: 117,715,909 (GRCm39) T58M possibly damaging Het
Ghrhr T C 6: 55,356,726 (GRCm39) Y108H probably damaging Het
Gm5431 A T 11: 48,780,058 (GRCm39) I566N probably damaging Het
Gnb5 A T 9: 75,234,511 (GRCm39) D70V probably damaging Het
Grin2c G T 11: 115,141,492 (GRCm39) S875R probably benign Het
Itch A C 2: 155,044,141 (GRCm39) Q482P probably benign Het
Krt87 T C 15: 101,336,314 (GRCm39) E113G probably damaging Het
Map4 A G 9: 109,900,116 (GRCm39) E934G probably damaging Het
Mkx A G 18: 7,000,675 (GRCm39) L89P probably damaging Het
Myo15a T A 11: 60,400,847 (GRCm39) Y2982* probably null Het
Nedd4 C T 9: 72,632,356 (GRCm39) L397F possibly damaging Het
Nom1 A G 5: 29,641,019 (GRCm39) D353G probably benign Het
Notch1 A T 2: 26,353,816 (GRCm39) L1937* probably null Het
Nrxn2 A T 19: 6,540,139 (GRCm39) D820V probably damaging Het
Nup210 A T 6: 91,032,226 (GRCm39) N47K probably benign Het
Or1j12 T A 2: 36,342,600 (GRCm39) M1K probably null Het
Or4p21 G A 2: 88,277,054 (GRCm39) T76I probably benign Het
Or6d14 A T 6: 116,533,578 (GRCm39) Q64L probably damaging Het
Pcolce2 A T 9: 95,576,742 (GRCm39) I338F probably damaging Het
Pkd1 T C 17: 24,799,046 (GRCm39) M2755T possibly damaging Het
Plekhg4 TAGTCGATGCCCGAGTC TAGTC 8: 106,103,084 (GRCm39) probably benign Het
Rab3a T C 8: 71,209,872 (GRCm39) S51P probably benign Het
Scn10a G A 9: 119,438,070 (GRCm39) A1933V probably benign Het
Serpina1c T A 12: 103,862,370 (GRCm39) Y315F probably damaging Het
Spag16 G A 1: 69,897,681 (GRCm39) V144I possibly damaging Het
Spata22 A G 11: 73,236,660 (GRCm39) K322R probably benign Het
Sult2a8 T A 7: 14,161,778 (GRCm39) I23L probably benign Het
Thoc1 T A 18: 9,986,300 (GRCm39) V344D probably damaging Het
Tnn G C 1: 159,924,798 (GRCm39) Y1185* probably null Het
Trpc4 A G 3: 54,209,614 (GRCm39) I660V probably benign Het
Urb1 A G 16: 90,571,144 (GRCm39) Y1222H probably benign Het
Usp4 A G 9: 108,250,885 (GRCm39) E531G probably benign Het
Vmn2r93 C T 17: 18,525,428 (GRCm39) S362L probably damaging Het
Zfhx3 G T 8: 109,526,885 (GRCm39) E927D probably damaging Het
Zfp644 A T 5: 106,786,469 (GRCm39) M1K probably null Het
Zp2 T C 7: 119,737,529 (GRCm39) H252R probably benign Het
Other mutations in Slc29a4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01317:Slc29a4 APN 5 142,691,285 (GRCm39) missense probably benign 0.02
IGL01717:Slc29a4 APN 5 142,704,501 (GRCm39) missense probably damaging 1.00
IGL02184:Slc29a4 APN 5 142,703,506 (GRCm39) missense probably damaging 1.00
IGL02207:Slc29a4 APN 5 142,704,640 (GRCm39) missense possibly damaging 0.76
IGL02210:Slc29a4 APN 5 142,704,534 (GRCm39) missense probably damaging 1.00
IGL02323:Slc29a4 APN 5 142,703,407 (GRCm39) missense probably damaging 0.99
IGL02381:Slc29a4 APN 5 142,705,854 (GRCm39) missense probably benign 0.34
IGL03103:Slc29a4 APN 5 142,697,835 (GRCm39) missense probably damaging 1.00
IGL03210:Slc29a4 APN 5 142,700,863 (GRCm39) missense probably damaging 1.00
R0131:Slc29a4 UTSW 5 142,691,285 (GRCm39) missense probably benign 0.02
R0131:Slc29a4 UTSW 5 142,691,285 (GRCm39) missense probably benign 0.02
R0132:Slc29a4 UTSW 5 142,691,285 (GRCm39) missense probably benign 0.02
R0850:Slc29a4 UTSW 5 142,704,327 (GRCm39) missense probably benign 0.00
R1777:Slc29a4 UTSW 5 142,699,817 (GRCm39) missense probably damaging 0.96
R1864:Slc29a4 UTSW 5 142,703,509 (GRCm39) missense probably damaging 1.00
R1870:Slc29a4 UTSW 5 142,707,243 (GRCm39) makesense probably null
R1871:Slc29a4 UTSW 5 142,707,243 (GRCm39) makesense probably null
R2092:Slc29a4 UTSW 5 142,704,610 (GRCm39) missense probably damaging 1.00
R4716:Slc29a4 UTSW 5 142,704,327 (GRCm39) missense probably benign 0.00
R5002:Slc29a4 UTSW 5 142,704,501 (GRCm39) missense probably damaging 1.00
R5162:Slc29a4 UTSW 5 142,707,207 (GRCm39) missense possibly damaging 0.80
R5235:Slc29a4 UTSW 5 142,704,523 (GRCm39) missense probably damaging 1.00
R5553:Slc29a4 UTSW 5 142,705,791 (GRCm39) missense probably damaging 1.00
R5642:Slc29a4 UTSW 5 142,697,727 (GRCm39) missense probably damaging 1.00
R5688:Slc29a4 UTSW 5 142,699,853 (GRCm39) missense possibly damaging 0.68
R5930:Slc29a4 UTSW 5 142,707,157 (GRCm39) missense possibly damaging 0.90
R5944:Slc29a4 UTSW 5 142,704,573 (GRCm39) missense probably damaging 1.00
R6056:Slc29a4 UTSW 5 142,705,832 (GRCm39) missense probably damaging 0.99
R6409:Slc29a4 UTSW 5 142,697,826 (GRCm39) missense probably damaging 1.00
R6934:Slc29a4 UTSW 5 142,698,713 (GRCm39) missense probably benign 0.02
R7508:Slc29a4 UTSW 5 142,704,261 (GRCm39) missense probably benign 0.00
R7509:Slc29a4 UTSW 5 142,704,261 (GRCm39) missense probably benign 0.00
R7716:Slc29a4 UTSW 5 142,704,261 (GRCm39) missense probably benign 0.00
R7910:Slc29a4 UTSW 5 142,691,156 (GRCm39) missense probably benign 0.00
R8351:Slc29a4 UTSW 5 142,703,584 (GRCm39) missense probably benign 0.01
R8408:Slc29a4 UTSW 5 142,691,109 (GRCm39) critical splice acceptor site probably null
R8411:Slc29a4 UTSW 5 142,705,880 (GRCm39) missense probably damaging 1.00
R8749:Slc29a4 UTSW 5 142,700,819 (GRCm39) missense probably damaging 1.00
R8861:Slc29a4 UTSW 5 142,704,580 (GRCm39) missense probably damaging 0.96
R9236:Slc29a4 UTSW 5 142,698,702 (GRCm39) missense probably damaging 0.98
R9498:Slc29a4 UTSW 5 142,704,233 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- AGTAGAGGTCATTTATGGACCTGTG -3'
(R):5'- CTGTTTCACAGGTGAGGCTG -3'

Sequencing Primer
(F):5'- TGAGTTAGCCAGGGACCAC -3'
(R):5'- TTTCACAGGTGAGGCTGGGAAG -3'
Posted On 2014-10-02