Incidental Mutation 'R1871:Slc29a4'
ID 210729
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 039893-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1871 (G1)
Quality Score 103
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: 97.5%
  • 3x: 97.0%
  • 10x: 95.6%
  • 20x: 93.2%
Validation Efficiency 97% (87/90)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930009A15Rik A G 10: 115,415,699 (GRCm39) probably null Het
Abca13 A T 11: 9,242,134 (GRCm39) E1332D probably benign Het
Abce1 G A 8: 80,411,897 (GRCm39) Q588* probably null Het
Acads A T 5: 115,255,701 (GRCm39) C45S probably damaging 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
Ano4 T A 10: 88,828,889 (GRCm39) I517F probably damaging Het
Arpc1a T A 5: 145,043,901 (GRCm39) C344S possibly damaging Het
Blk A T 14: 63,613,364 (GRCm39) S381R possibly damaging Het
Capn15 C A 17: 26,183,203 (GRCm39) W426L probably damaging Het
Chd6 T C 2: 160,832,176 (GRCm39) T999A probably damaging Het
Clca3a2 A G 3: 144,503,398 (GRCm39) Y851H probably benign Het
Crp T A 1: 172,526,172 (GRCm39) W86R possibly damaging Het
Ctnnal1 G A 4: 56,812,534 (GRCm39) L705F probably benign Het
Cyp2c66 A G 19: 39,151,858 (GRCm39) D191G possibly damaging Het
Cyp4f37 A G 17: 32,853,639 (GRCm39) D441G probably damaging Het
D130040H23Rik T A 8: 69,755,354 (GRCm39) I253N probably benign Het
Dnah5 T A 15: 28,331,859 (GRCm39) Y2148* probably null Het
Eef1g A T 19: 8,955,330 (GRCm39) D393V possibly damaging Het
Elapor2 A G 5: 9,468,007 (GRCm39) E225G probably damaging Het
Ephx2 A T 14: 66,322,183 (GRCm39) I538N probably damaging Het
Fat4 T A 3: 39,035,221 (GRCm39) S2958T possibly damaging Het
Foxi1 A T 11: 34,157,937 (GRCm39) N29K possibly damaging Het
Gm10287 G T 3: 148,930,373 (GRCm39) noncoding transcript Het
Gm10801 G T 2: 98,494,185 (GRCm39) S109I probably benign Het
Gmcl1 T C 6: 86,674,498 (GRCm39) D460G probably benign Het
Gpr158 A G 2: 21,820,426 (GRCm39) D641G probably damaging Het
Heph C A X: 95,542,690 (GRCm39) S561Y probably benign Het
Hgfac A G 5: 35,200,257 (GRCm39) *90W probably null Het
Hp1bp3 C G 4: 137,949,497 (GRCm39) P65R probably damaging Het
Ighv6-4 T A 12: 114,370,221 (GRCm39) Y58F probably benign Het
Jrk T C 15: 74,578,412 (GRCm39) D291G possibly damaging Het
Kdm4d A G 9: 14,375,679 (GRCm39) Y60H probably damaging Het
Khdrbs3 T C 15: 68,921,291 (GRCm39) Y203H probably damaging Het
Klhl6 A T 16: 19,775,793 (GRCm39) V255D possibly damaging Het
Krt9 C T 11: 100,081,614 (GRCm39) R305H probably damaging Het
Lama2 T G 10: 26,860,490 (GRCm39) N2999T probably damaging Het
Letm2 A G 8: 26,086,460 (GRCm39) probably benign Het
Lipa A T 19: 34,488,328 (GRCm39) L106Q probably damaging Het
Llph A T 10: 120,067,141 (GRCm39) N86I probably damaging Het
Lyst T A 13: 13,826,297 (GRCm39) N1601K probably benign Het
Mc1r T A 8: 124,134,275 (GRCm39) S9R probably benign Het
Mfsd14a A G 3: 116,434,969 (GRCm39) I249T probably benign Het
Mtfp1 G A 11: 4,044,012 (GRCm39) R73C probably benign Het
Myo1a A G 10: 127,555,540 (GRCm39) Q877R probably benign Het
Nalcn A C 14: 123,831,965 (GRCm39) V103G possibly damaging Het
Ndst3 A T 3: 123,355,673 (GRCm39) F119I probably damaging Het
Or8k16 A G 2: 85,520,655 (GRCm39) N294S probably damaging Het
Patl1 T C 19: 11,902,596 (GRCm39) probably benign Het
Pcdhb2 A T 18: 37,430,408 (GRCm39) probably null Het
Pcdhb22 A C 18: 37,652,200 (GRCm39) T223P probably damaging Het
Pcdhga1 T A 18: 37,973,143 (GRCm39) N907K probably damaging Het
Pfas T C 11: 68,882,795 (GRCm39) D782G probably damaging Het
Plpp6 T C 19: 28,941,684 (GRCm39) F95S probably damaging Het
Polr2b T A 5: 77,474,374 (GRCm39) probably benign Het
Qars1 T G 9: 108,391,315 (GRCm39) probably null Het
Ranbp2 A G 10: 58,328,383 (GRCm39) I2800V probably damaging Het
Rnf213 T C 11: 119,340,955 (GRCm39) V3532A probably benign Het
Rubcnl T C 14: 75,279,849 (GRCm39) S411P possibly damaging Het
Scn1a C A 2: 66,148,369 (GRCm39) G1059W probably damaging Het
Sgms1 C T 19: 32,137,282 (GRCm39) V95I probably benign Het
Siglecf A G 7: 43,004,967 (GRCm39) N399S probably benign Het
Slfn9 G T 11: 82,872,402 (GRCm39) T778N probably benign Het
Sorl1 G A 9: 41,881,021 (GRCm39) Q2167* probably null Het
Stkld1 A G 2: 26,827,985 (GRCm39) probably benign Het
Taar8b T C 10: 23,967,900 (GRCm39) Y98C probably damaging Het
Tecta G A 9: 42,248,472 (GRCm39) L1977F probably damaging Het
Tecta G C 9: 42,248,636 (GRCm39) T1917R probably damaging Het
Topaz1 T A 9: 122,628,544 (GRCm39) S1544T probably benign Het
Tpx2 T C 2: 152,735,523 (GRCm39) I717T probably damaging Het
Tyk2 A T 9: 21,032,737 (GRCm39) V342E probably damaging Het
Ube4a A T 9: 44,856,235 (GRCm39) probably null Het
Unc80 A T 1: 66,549,876 (GRCm39) R711S possibly damaging Het
Ush2a C A 1: 188,558,665 (GRCm39) D3631E probably benign Het
Usp34 A G 11: 23,314,479 (GRCm39) H807R probably benign Het
Vps13a T C 19: 16,642,028 (GRCm39) T2200A probably benign Het
Wif1 A G 10: 120,920,824 (GRCm39) I215M probably benign Het
Wnk1 T C 6: 119,928,050 (GRCm39) T1134A probably damaging Het
Xxylt1 A G 16: 30,776,235 (GRCm39) V367A probably damaging Het
Zfp735 A T 11: 73,601,412 (GRCm39) K119* probably null 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
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'- TGGCCACAGAGATTGTCTAGC -3'
(R):5'- CGGTGAAGACAAGTTCCAGCTG -3'

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