Incidental Mutation 'R8851:Slc29a1'
ID 675033
Institutional Source Beutler Lab
Gene Symbol Slc29a1
Ensembl Gene ENSMUSG00000023942
Gene Name solute carrier family 29 (nucleoside transporters), member 1
Synonyms 1200014D21Rik, NBMPR-sensitive equilibrative nucleoside transporter, ENT1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8851 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 45896126-45910532 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 45900402 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 176 (I176T)
Ref Sequence ENSEMBL: ENSMUSP00000129242 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051574] [ENSMUST00000064889] [ENSMUST00000097317] [ENSMUST00000163492] [ENSMUST00000163905] [ENSMUST00000164217] [ENSMUST00000164618] [ENSMUST00000164769] [ENSMUST00000166119] [ENSMUST00000166633] [ENSMUST00000167195] [ENSMUST00000167332] [ENSMUST00000167692] [ENSMUST00000168274] [ENSMUST00000169729] [ENSMUST00000170113] [ENSMUST00000170488] [ENSMUST00000171081] [ENSMUST00000171847] [ENSMUST00000172301]
AlphaFold Q9JIM1
Predicted Effect probably damaging
Transcript: ENSMUST00000051574
AA Change: I176T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000063096
Gene: ENSMUSG00000023942
AA Change: I176T

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
transmembrane domain 76 98 N/A INTRINSIC
transmembrane domain 110 132 N/A INTRINSIC
Pfam:Nucleoside_tran 144 458 4.5e-131 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000064889
AA Change: I176T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000063757
Gene: ENSMUSG00000023942
AA Change: I176T

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
transmembrane domain 76 98 N/A INTRINSIC
transmembrane domain 110 132 N/A INTRINSIC
Pfam:Nucleoside_tran 144 456 2.1e-130 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000097317
AA Change: I176T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000094923
Gene: ENSMUSG00000023942
AA Change: I176T

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
transmembrane domain 76 98 N/A INTRINSIC
transmembrane domain 110 132 N/A INTRINSIC
Pfam:Nucleoside_tran 144 458 4.5e-131 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000163492
AA Change: I176T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129242
Gene: ENSMUSG00000023942
AA Change: I176T

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
transmembrane domain 76 98 N/A INTRINSIC
transmembrane domain 110 132 N/A INTRINSIC
Pfam:Nucleoside_tran 144 456 2.1e-130 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000163905
SMART Domains Protein: ENSMUSP00000129240
Gene: ENSMUSG00000023942

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
transmembrane domain 80 102 N/A INTRINSIC
transmembrane domain 109 130 N/A INTRINSIC
transmembrane domain 135 157 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000164217
AA Change: I176T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131646
Gene: ENSMUSG00000023942
AA Change: I176T

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
transmembrane domain 76 98 N/A INTRINSIC
transmembrane domain 110 132 N/A INTRINSIC
Pfam:Nucleoside_tran 144 262 8.4e-46 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000164618
SMART Domains Protein: ENSMUSP00000126934
Gene: ENSMUSG00000023942

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
transmembrane domain 80 102 N/A INTRINSIC
transmembrane domain 109 130 N/A INTRINSIC
transmembrane domain 135 157 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000164769
AA Change: I176T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131116
Gene: ENSMUSG00000023942
AA Change: I176T

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
transmembrane domain 76 98 N/A INTRINSIC
transmembrane domain 110 132 N/A INTRINSIC
Pfam:Nucleoside_tran 144 358 2.7e-81 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000166119
AA Change: I176T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128763
Gene: ENSMUSG00000023942
AA Change: I176T

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
transmembrane domain 76 98 N/A INTRINSIC
transmembrane domain 110 132 N/A INTRINSIC
Pfam:Nucleoside_tran 144 458 4.5e-131 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000166633
AA Change: I176T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131075
Gene: ENSMUSG00000023942
AA Change: I176T

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
transmembrane domain 76 98 N/A INTRINSIC
transmembrane domain 110 132 N/A INTRINSIC
Pfam:Nucleoside_tran 144 195 1e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000167195
SMART Domains Protein: ENSMUSP00000133162
Gene: ENSMUSG00000023942

DomainStartEndE-ValueType
transmembrane domain 48 70 N/A INTRINSIC
transmembrane domain 77 98 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000167332
SMART Domains Protein: ENSMUSP00000131483
Gene: ENSMUSG00000023942

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000167692
AA Change: I176T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131976
Gene: ENSMUSG00000023942
AA Change: I176T

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
transmembrane domain 76 98 N/A INTRINSIC
transmembrane domain 110 132 N/A INTRINSIC
Pfam:Nucleoside_tran 144 458 4.5e-131 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000168274
Predicted Effect probably benign
Transcript: ENSMUST00000169729
SMART Domains Protein: ENSMUSP00000127343
Gene: ENSMUSG00000023942

DomainStartEndE-ValueType
transmembrane domain 44 66 N/A INTRINSIC
transmembrane domain 76 98 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000170113
SMART Domains Protein: ENSMUSP00000128304
Gene: ENSMUSG00000023942

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000170488
Predicted Effect probably damaging
Transcript: ENSMUST00000171081
AA Change: I176T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131217
Gene: ENSMUSG00000023942
AA Change: I176T

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
transmembrane domain 76 98 N/A INTRINSIC
transmembrane domain 110 132 N/A INTRINSIC
Pfam:Nucleoside_tran 144 262 8.4e-46 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000171847
AA Change: I176T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126703
Gene: ENSMUSG00000023942
AA Change: I176T

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
transmembrane domain 76 98 N/A INTRINSIC
transmembrane domain 110 132 N/A INTRINSIC
Pfam:Nucleoside_tran 144 456 2.1e-130 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000172301
SMART Domains Protein: ENSMUSP00000129345
Gene: ENSMUSG00000023942

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
transmembrane domain 80 102 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the equilibrative nucleoside transporter family. The gene encodes a transmembrane glycoprotein that localizes to the plasma and mitochondrial membranes and mediates the cellular uptake of nucleosides from the surrounding medium. The protein is categorized as an equilibrative (as opposed to concentrative) transporter that is sensitive to inhibition by nitrobenzylthioinosine (NBMPR). Nucleoside transporters are required for nucleotide synthesis in cells that lack de novo nucleoside synthesis pathways, and are also necessary for the uptake of cytotoxic nucleosides used for cancer and viral chemotherapies. Multiple alternatively spliced variants, encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted null allele exhibit a slightly decreased body weight, increased alcohol preference and alcohol consumption, and reduced hypnotic and ataxic responses to ethanol associated with a reduction in adenosine tone. Adenosine uptake is almost completely abolished in mice homozygous for a knock-out allele. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ackr1 T A 1: 173,159,683 (GRCm39) I279F probably benign Het
Adamts7 A G 9: 90,075,163 (GRCm39) N965S probably benign Het
Adgrl3 A G 5: 81,613,119 (GRCm39) Y184C probably damaging Het
Ankar T C 1: 72,691,535 (GRCm39) Y1142C probably damaging Het
Apoa4 A G 9: 46,153,906 (GRCm39) K169R probably benign Het
Cd22 T A 7: 30,577,084 (GRCm39) K74N probably benign Het
Defa39 T A 8: 22,193,555 (GRCm39) I22F possibly damaging Het
Dgcr2 G A 16: 17,690,507 (GRCm39) T41I possibly damaging Het
Dicer1 A G 12: 104,690,300 (GRCm39) V245A possibly damaging Het
Dop1b T A 16: 93,559,398 (GRCm39) S715T probably benign Het
Epb41l1 A T 2: 156,364,431 (GRCm39) H980L probably benign Het
Erc2 A T 14: 28,039,216 (GRCm39) E973V probably null Het
Fam124b T A 1: 80,190,882 (GRCm39) Q167L probably damaging Het
Frmpd2 A G 14: 33,217,643 (GRCm39) E46G probably damaging Het
Gabrb2 G A 11: 42,312,186 (GRCm39) V4I probably benign Het
Gbf1 T A 19: 46,256,922 (GRCm39) N841K probably damaging Het
Gnpat A G 8: 125,601,004 (GRCm39) H161R probably damaging Het
Gpd2 A T 2: 57,197,062 (GRCm39) M206L possibly damaging Het
Grid2ip T C 5: 143,348,352 (GRCm39) F148L possibly damaging Het
Hemk1 A G 9: 107,213,412 (GRCm39) V128A probably benign Het
Ism1 G T 2: 139,591,465 (GRCm39) S273I probably damaging Het
Kcnab3 G T 11: 69,218,990 (GRCm39) probably null Het
Kdm6b A G 11: 69,291,993 (GRCm39) Y1430H unknown Het
Lama2 A G 10: 27,242,119 (GRCm39) V279A possibly damaging Het
Lmf1 G A 17: 25,804,680 (GRCm39) W119* probably null Het
Lrrc42 A G 4: 107,096,375 (GRCm39) V276A probably benign Het
Magi2 T C 5: 20,270,618 (GRCm39) F163L probably damaging Het
Map2k2 A G 10: 80,955,097 (GRCm39) K196R probably damaging Het
Mfsd11 C A 11: 116,752,479 (GRCm39) D209E probably benign Het
Muc1 C A 3: 89,138,425 (GRCm39) F422L probably benign Het
Muc13 A G 16: 33,631,273 (GRCm39) H391R probably benign Het
Mxi1 G A 19: 53,360,126 (GRCm39) G283S probably damaging Het
Nfatc2ip T C 7: 125,986,617 (GRCm39) Q346R probably damaging Het
Or8g2b A G 9: 39,751,600 (GRCm39) Y290C probably damaging Het
Otol1 T A 3: 69,935,299 (GRCm39) D430E probably damaging Het
Pcdh1 T C 18: 38,325,155 (GRCm39) E929G probably damaging Het
Pip4p2 T C 4: 14,912,491 (GRCm39) M200T possibly damaging Het
Plekhf1 C T 7: 37,921,466 (GRCm39) R34H probably damaging Het
Plekhm2 A T 4: 141,358,639 (GRCm39) V622E probably benign Het
Pomt2 G A 12: 87,184,838 (GRCm39) T196I probably damaging Het
Ppp1r12c C T 7: 4,487,703 (GRCm39) G436D probably damaging Het
Prss50 A G 9: 110,687,081 (GRCm39) probably benign Het
Slc5a9 A T 4: 111,755,790 (GRCm39) V36E probably damaging Het
Slc7a1 A C 5: 148,285,093 (GRCm39) S133R probably damaging Het
Sox17 A G 1: 4,562,073 (GRCm39) Y376H probably benign Het
Spata4 T C 8: 55,062,935 (GRCm39) I280T probably benign Het
Svop T A 5: 114,192,557 (GRCm39) I187F probably damaging Het
Tas2r103 T A 6: 133,013,896 (GRCm39) I57F Het
Tead3 A G 17: 28,551,704 (GRCm39) V463A probably damaging Het
Tenm4 G C 7: 96,501,710 (GRCm39) G1305R probably damaging Het
Top2a A T 11: 98,900,677 (GRCm39) F594L probably damaging Het
Trim23 A G 13: 104,334,573 (GRCm39) T419A possibly damaging Het
Ttn T C 2: 76,629,237 (GRCm39) E12621G probably damaging Het
Ttyh2 A G 11: 114,593,090 (GRCm39) I254V probably benign Het
Vmn2r58 T C 7: 41,487,219 (GRCm39) M559V probably benign Het
Wwp1 A T 4: 19,643,437 (GRCm39) H358Q probably null Het
Zcwpw1 A C 5: 137,820,626 (GRCm39) D597A probably damaging Het
Zfp318 A T 17: 46,710,761 (GRCm39) Y828F probably damaging Het
Zfp608 T A 18: 55,032,194 (GRCm39) N582I possibly damaging Het
Other mutations in Slc29a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00562:Slc29a1 APN 17 45,900,918 (GRCm39) missense probably damaging 1.00
IGL01617:Slc29a1 APN 17 45,900,375 (GRCm39) missense probably benign 0.02
IGL02154:Slc29a1 APN 17 45,897,089 (GRCm39) missense probably damaging 1.00
soldate UTSW 17 45,897,189 (GRCm39) missense probably damaging 1.00
veteran UTSW 17 45,900,847 (GRCm39) critical splice donor site probably null
veterinarian UTSW 17 45,897,035 (GRCm39) missense probably damaging 1.00
workhorse UTSW 17 45,899,992 (GRCm39) nonsense probably null
R0288:Slc29a1 UTSW 17 45,900,730 (GRCm39) missense probably damaging 1.00
R1168:Slc29a1 UTSW 17 45,901,204 (GRCm39) missense probably damaging 1.00
R1676:Slc29a1 UTSW 17 45,899,936 (GRCm39) missense probably damaging 0.98
R1777:Slc29a1 UTSW 17 45,898,234 (GRCm39) missense probably damaging 1.00
R2032:Slc29a1 UTSW 17 45,897,035 (GRCm39) missense probably damaging 1.00
R2413:Slc29a1 UTSW 17 45,896,643 (GRCm39) missense probably damaging 1.00
R3917:Slc29a1 UTSW 17 45,899,899 (GRCm39) splice site probably null
R4513:Slc29a1 UTSW 17 45,899,992 (GRCm39) nonsense probably null
R4583:Slc29a1 UTSW 17 45,900,882 (GRCm39) missense possibly damaging 0.67
R5244:Slc29a1 UTSW 17 45,899,339 (GRCm39) unclassified probably benign
R6174:Slc29a1 UTSW 17 45,900,854 (GRCm39) missense probably damaging 1.00
R6284:Slc29a1 UTSW 17 45,900,847 (GRCm39) critical splice donor site probably null
R6446:Slc29a1 UTSW 17 45,900,171 (GRCm39) missense possibly damaging 0.88
R6607:Slc29a1 UTSW 17 45,899,853 (GRCm39) splice site probably null
R7133:Slc29a1 UTSW 17 45,900,897 (GRCm39) missense possibly damaging 0.50
R7153:Slc29a1 UTSW 17 45,896,688 (GRCm39) missense probably damaging 1.00
R7248:Slc29a1 UTSW 17 45,903,108 (GRCm39) missense probably damaging 1.00
R7271:Slc29a1 UTSW 17 45,899,288 (GRCm39) missense probably benign 0.01
R7604:Slc29a1 UTSW 17 45,903,250 (GRCm39) splice site probably null
R7811:Slc29a1 UTSW 17 45,897,189 (GRCm39) missense probably damaging 1.00
R8406:Slc29a1 UTSW 17 45,900,706 (GRCm39) missense probably damaging 1.00
R8751:Slc29a1 UTSW 17 45,900,688 (GRCm39) missense probably benign 0.00
R9224:Slc29a1 UTSW 17 45,897,153 (GRCm39) missense probably damaging 0.99
R9301:Slc29a1 UTSW 17 45,897,063 (GRCm39) missense probably damaging 1.00
X0067:Slc29a1 UTSW 17 45,901,251 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGACAGCTCAGAACCACCTG -3'
(R):5'- GCTCATCAATTGTAATCGGGAGG -3'

Sequencing Primer
(F):5'- TCAGAACCACCTGGCGCAG -3'
(R):5'- TCAATTGTAATCGGGAGGGGACG -3'
Posted On 2021-07-15