Incidental Mutation 'R1870:Slc29a4'
ID 210634
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 039892-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1870 (G1)
Quality Score 121
Status Validated
Chromosome 5
Chromosomal Location 142678267-142708245 bp(+) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) T to C at 142707243 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Arginine at position 529 (*529R)
Ref Sequence ENSEMBL: ENSMUSP00000059896 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058418] [ENSMUST00000152247]
AlphaFold Q8R139
Predicted Effect probably null
Transcript: ENSMUST00000058418
AA Change: *529R
SMART Domains Protein: ENSMUSP00000059896
Gene: ENSMUSG00000050822
AA Change: *529R

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 probably benign
Transcript: ENSMUST00000152247
SMART Domains Protein: ENSMUSP00000117651
Gene: ENSMUSG00000039477

DomainStartEndE-ValueType
low complexity region 57 104 N/A INTRINSIC
low complexity region 186 207 N/A INTRINSIC
low complexity region 274 292 N/A INTRINSIC
low complexity region 440 451 N/A INTRINSIC
coiled coil region 660 693 N/A INTRINSIC
low complexity region 733 747 N/A INTRINSIC
low complexity region 768 787 N/A INTRINSIC
low complexity region 797 810 N/A INTRINSIC
low complexity region 910 929 N/A INTRINSIC
low complexity region 1086 1106 N/A INTRINSIC
coiled coil region 1228 1260 N/A INTRINSIC
low complexity region 1294 1310 N/A INTRINSIC
low complexity region 1398 1410 N/A INTRINSIC
low complexity region 1425 1436 N/A INTRINSIC
coiled coil region 1570 1592 N/A INTRINSIC
low complexity region 1606 1618 N/A INTRINSIC
low complexity region 1622 1640 N/A INTRINSIC
low complexity region 1641 1653 N/A INTRINSIC
Meta Mutation Damage Score 0.9221 question?
Coding Region Coverage
  • 1x: 97.3%
  • 3x: 96.7%
  • 10x: 95.1%
  • 20x: 92.1%
Validation Efficiency 97% (96/99)
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: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,242,134 (GRCm39) E1332D probably benign Het
Abca5 C A 11: 110,220,043 (GRCm39) V8L probably benign Het
Abcc8 C T 7: 45,773,339 (GRCm39) E797K probably benign Het
Acd C A 8: 106,425,039 (GRCm39) probably null Het
Adam34l A T 8: 44,078,132 (GRCm39) Y697* probably null Het
Adamts12 T C 15: 11,311,240 (GRCm39) S1166P probably benign Het
Alox12b T C 11: 69,049,199 (GRCm39) Y83H possibly damaging Het
Antxr2 A T 5: 98,178,297 (GRCm39) S38T probably damaging Het
Aox1 A G 1: 58,115,262 (GRCm39) E749G probably damaging Het
Arpc1a T A 5: 145,043,901 (GRCm39) C344S possibly damaging Het
Bcan T C 3: 87,902,908 (GRCm39) Y290C probably damaging Het
Bod1l G A 5: 41,991,018 (GRCm39) S179F possibly damaging Het
Catsper3 A C 13: 55,953,561 (GRCm39) D224A probably damaging Het
Ccar2 A G 14: 70,377,946 (GRCm39) S680P probably damaging Het
Ccdc18 A G 5: 108,368,703 (GRCm39) H1275R possibly damaging Het
Ccdc40 T C 11: 119,150,730 (GRCm39) M1011T possibly damaging Het
Cfap46 T A 7: 139,263,386 (GRCm39) D17V probably damaging Het
Csn1s2a T C 5: 87,926,058 (GRCm39) F45L probably benign Het
Cwf19l2 T G 9: 3,458,802 (GRCm39) N750K possibly damaging Het
Cyb5r4 A G 9: 86,922,462 (GRCm39) D157G probably benign Het
D130040H23Rik T A 8: 69,755,354 (GRCm39) I253N probably benign Het
Dennd4a C T 9: 64,804,516 (GRCm39) A1285V probably benign Het
Dlat A G 9: 50,548,874 (GRCm39) S561P probably damaging Het
Dlgap2 T A 8: 14,823,347 (GRCm39) V522E probably damaging Het
Dnah5 T A 15: 28,331,859 (GRCm39) Y2148* probably null Het
Dnase2a T C 8: 85,635,392 (GRCm39) probably benign Het
Elapor2 A G 5: 9,468,007 (GRCm39) E225G probably damaging Het
Fam83f T C 15: 80,574,113 (GRCm39) probably benign Het
Firrm G A 1: 163,792,363 (GRCm39) L545F probably damaging Het
Foxi1 A T 11: 34,157,937 (GRCm39) N29K possibly damaging Het
Galk2 T C 2: 125,817,183 (GRCm39) L324P probably benign Het
Gdpd4 G A 7: 97,622,162 (GRCm39) V214I probably benign Het
Gfra3 C T 18: 34,844,373 (GRCm39) A56T probably damaging Het
Glyctk A G 9: 106,032,547 (GRCm39) S489P probably damaging Het
Izumo4 A T 10: 80,539,569 (GRCm39) I135F probably damaging Het
Krt87 T A 15: 101,385,071 (GRCm39) T342S probably benign Het
L1td1 T A 4: 98,625,714 (GRCm39) D636E possibly damaging Het
Letm2 A G 8: 26,086,460 (GRCm39) probably benign Het
Lpin1 A G 12: 16,591,744 (GRCm39) F828L probably damaging Het
Lrrc37 T C 11: 103,511,431 (GRCm39) D179G unknown Het
Mdn1 T A 4: 32,763,339 (GRCm39) D5146E probably damaging Het
Megf10 T A 18: 57,324,257 (GRCm39) Y99* probably null Het
Men1 A G 19: 6,387,660 (GRCm39) D285G probably damaging Het
Mertk T G 2: 128,643,116 (GRCm39) D838E probably benign Het
Mta1 T C 12: 113,091,694 (GRCm39) S266P possibly damaging Het
Mta3 G A 17: 84,089,397 (GRCm39) V320M probably damaging Het
Nlrp9c G A 7: 26,084,245 (GRCm39) Q445* probably null Het
Or2m12 A T 16: 19,105,357 (GRCm39) N45K probably damaging Het
Or51e1 T C 7: 102,358,961 (GRCm39) I165T possibly damaging Het
Or8b38 A T 9: 37,972,646 (GRCm39) K10I probably benign Het
Or8d6 T G 9: 39,854,117 (GRCm39) I187R probably damaging Het
Pbrm1 T A 14: 30,828,132 (GRCm39) L1320I probably damaging Het
Pdzd2 G T 15: 12,457,972 (GRCm39) T297K probably damaging Het
Pfas T C 11: 68,882,795 (GRCm39) D782G probably damaging Het
Pik3c3 T C 18: 30,426,185 (GRCm39) probably null Het
Pira2 T C 7: 3,847,452 (GRCm39) N79S probably damaging Het
Pkdrej G T 15: 85,700,632 (GRCm39) T1768K probably damaging Het
Plcb3 T C 19: 6,940,353 (GRCm39) I439V probably benign Het
Pold4 T A 19: 4,282,593 (GRCm39) Y58* probably null Het
Ppef2 T G 5: 92,398,371 (GRCm39) Q49P probably damaging Het
Ralgapa1 T A 12: 55,723,817 (GRCm39) I2026F possibly damaging Het
Rest T A 5: 77,416,209 (GRCm39) V141E possibly damaging Het
Rnf139 T C 15: 58,771,202 (GRCm39) V409A probably benign Het
Rnpc3 T C 3: 113,404,704 (GRCm39) probably benign Het
S100a10 A T 3: 93,468,377 (GRCm39) E36V probably benign Het
S1pr3 A C 13: 51,573,952 (GRCm39) K378Q probably benign Het
Scaper T A 9: 55,593,222 (GRCm39) I472F probably damaging Het
Sgcg G A 14: 61,477,896 (GRCm39) probably benign Het
Shank1 A T 7: 43,991,539 (GRCm39) R69* probably null Het
Shoc1 G A 4: 59,054,142 (GRCm39) probably benign Het
Siglecf A G 7: 43,004,967 (GRCm39) N399S probably benign Het
Slc25a54 T A 3: 108,987,932 (GRCm39) Y24* probably null Het
Slc41a2 G A 10: 83,137,029 (GRCm39) Q293* probably null Het
Slc4a7 T C 14: 14,737,509 (GRCm38) probably null Het
Slfn9 G T 11: 82,872,402 (GRCm39) T778N probably benign Het
Ssr2 T C 3: 88,483,949 (GRCm39) probably benign Het
Tecrl T A 5: 83,502,706 (GRCm39) T33S probably benign Het
Tnfrsf9 T A 4: 151,018,804 (GRCm39) C158* probably null Het
Tradd T C 8: 105,985,792 (GRCm39) E253G possibly damaging Het
Usp34 A G 11: 23,314,479 (GRCm39) H807R probably benign Het
Vmn2r129 G T 4: 156,686,692 (GRCm39) noncoding transcript Het
Vmn2r27 T C 6: 124,201,170 (GRCm39) I262M probably benign Het
Vps13a A G 19: 16,737,316 (GRCm39) V91A probably damaging Het
Vwf C T 6: 125,619,902 (GRCm39) R1527C probably damaging Het
Wwc1 C T 11: 35,752,772 (GRCm39) G763D probably damaging Het
Zfp526 T G 7: 24,924,594 (GRCm39) D284E possibly damaging Het
Zfp646 T C 7: 127,483,021 (GRCm39) F1733L possibly damaging Het
Zfp90 A G 8: 107,145,755 (GRCm39) H29R probably benign Het
Zkscan4 A G 13: 21,668,104 (GRCm39) E185G 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
R1871:Slc29a4 UTSW 5 142,707,243 (GRCm39) makesense probably null
R2092:Slc29a4 UTSW 5 142,704,610 (GRCm39) missense probably damaging 1.00
R2196:Slc29a4 UTSW 5 142,698,650 (GRCm39) missense possibly damaging 0.94
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'- GGCCACAGAGATTGTCTAGCAC -3'
(R):5'- CGGTGAAGACAAGTTCCAGC -3'

Sequencing Primer
(F):5'- ATTGTCTAGCACAGCGCAG -3'
(R):5'- GAAGACAAGTTCCAGCTGTTTTGGAC -3'
Posted On 2014-06-30