Incidental Mutation 'R0288:Slc29a1'
ID 24754
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
MMRRC Submission 038507-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0288 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 45896126-45910532 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 45900730 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 111 (R111W)
Ref Sequence ENSEMBL: ENSMUSP00000129345 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051574] [ENSMUST00000064889] [ENSMUST00000097317] [ENSMUST00000163492] [ENSMUST00000163905] [ENSMUST00000166119] [ENSMUST00000164217] [ENSMUST00000164769] [ENSMUST00000167195] [ENSMUST00000167692] [ENSMUST00000164618] [ENSMUST00000166633] [ENSMUST00000169729] [ENSMUST00000167332] [ENSMUST00000168274] [ENSMUST00000171081] [ENSMUST00000171847] [ENSMUST00000172301] [ENSMUST00000170488] [ENSMUST00000170113]
AlphaFold Q9JIM1
Predicted Effect probably damaging
Transcript: ENSMUST00000051574
AA Change: R111W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000063096
Gene: ENSMUSG00000023942
AA Change: R111W

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: R111W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000063757
Gene: ENSMUSG00000023942
AA Change: R111W

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 noncoding transcript
Transcript: ENSMUST00000087588
Predicted Effect probably damaging
Transcript: ENSMUST00000097317
AA Change: R111W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000094923
Gene: ENSMUSG00000023942
AA Change: R111W

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: R111W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129242
Gene: ENSMUSG00000023942
AA Change: R111W

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: ENSMUST00000163905
AA Change: R111W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129240
Gene: ENSMUSG00000023942
AA Change: R111W

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: ENSMUST00000166119
AA Change: R111W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128763
Gene: ENSMUSG00000023942
AA Change: R111W

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: ENSMUST00000164217
AA Change: R111W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131646
Gene: ENSMUSG00000023942
AA Change: R111W

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: ENSMUST00000164769
AA Change: R111W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131116
Gene: ENSMUSG00000023942
AA Change: R111W

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: ENSMUST00000167195
AA Change: R79W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133162
Gene: ENSMUSG00000023942
AA Change: R79W

DomainStartEndE-ValueType
transmembrane domain 48 70 N/A INTRINSIC
transmembrane domain 77 98 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000167692
AA Change: R111W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131976
Gene: ENSMUSG00000023942
AA Change: R111W

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: ENSMUST00000164618
AA Change: R111W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126934
Gene: ENSMUSG00000023942
AA Change: R111W

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: ENSMUST00000166633
AA Change: R111W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131075
Gene: ENSMUSG00000023942
AA Change: R111W

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 damaging
Transcript: ENSMUST00000169729
AA Change: R79W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000127343
Gene: ENSMUSG00000023942
AA Change: R79W

DomainStartEndE-ValueType
transmembrane domain 44 66 N/A INTRINSIC
transmembrane domain 76 98 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167863
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167748
Predicted Effect probably benign
Transcript: ENSMUST00000167332
SMART Domains Protein: ENSMUSP00000131483
Gene: ENSMUSG00000023942

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000168274
Predicted Effect probably damaging
Transcript: ENSMUST00000171081
AA Change: R111W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131217
Gene: ENSMUSG00000023942
AA Change: R111W

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: R111W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126703
Gene: ENSMUSG00000023942
AA Change: R111W

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: ENSMUST00000172301
AA Change: R111W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129345
Gene: ENSMUSG00000023942
AA Change: R111W

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
transmembrane domain 80 102 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171876
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170425
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171978
Predicted Effect probably benign
Transcript: ENSMUST00000170488
Predicted Effect probably benign
Transcript: ENSMUST00000170113
SMART Domains Protein: ENSMUSP00000128304
Gene: ENSMUSG00000023942

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
Meta Mutation Damage Score 0.7247 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.8%
  • 10x: 95.1%
  • 20x: 89.7%
Validation Efficiency 98% (62/63)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg3 A G 8: 95,766,568 (GRCm39) E413G possibly damaging Het
Amigo2 G T 15: 97,143,560 (GRCm39) N287K probably damaging Het
Ankle2 T A 5: 110,384,256 (GRCm39) I260K probably damaging Het
Apob C T 12: 8,040,779 (GRCm39) R635* probably null Het
Camkv A G 9: 107,823,555 (GRCm39) Y153C probably damaging Het
Capn9 A G 8: 125,327,230 (GRCm39) probably benign Het
Ces2c A G 8: 105,576,376 (GRCm39) I130V probably benign Het
Cfap44 T A 16: 44,236,257 (GRCm39) probably benign Het
Cfhr3 A G 1: 139,525,425 (GRCm39) noncoding transcript Het
Chmp1a G T 8: 123,934,745 (GRCm39) D70E probably damaging Het
Coil G A 11: 88,872,694 (GRCm39) G352R probably damaging Het
Colq T C 14: 31,265,949 (GRCm39) E188G possibly damaging Het
Cyfip2 A G 11: 46,144,799 (GRCm39) F685S possibly damaging Het
Cyp4f39 A G 17: 32,711,410 (GRCm39) N519S probably benign Het
Dennd1c A T 17: 57,383,870 (GRCm39) probably null Het
Dnah9 A T 11: 65,915,960 (GRCm39) probably null Het
Dnmbp T C 19: 43,890,898 (GRCm39) T290A possibly damaging Het
Dsc2 T C 18: 20,166,177 (GRCm39) D818G probably damaging Het
Gnptab G A 10: 88,268,967 (GRCm39) V557I probably benign Het
Hdac4 A T 1: 91,898,728 (GRCm39) H675Q probably damaging Het
Kcnk3 T C 5: 30,745,764 (GRCm39) M35T probably benign Het
Kif1b A T 4: 149,283,795 (GRCm39) I1290N probably damaging Het
Klhl14 G A 18: 21,698,620 (GRCm39) R398W probably damaging Het
Marveld1 T C 19: 42,136,265 (GRCm39) F60L probably damaging Het
Miox C T 15: 89,220,477 (GRCm39) L189F possibly damaging Het
Ncoa6 TGC TGCGC 2: 155,250,211 (GRCm39) probably null Het
Ndst3 A T 3: 123,465,843 (GRCm39) V43D probably benign Het
Nhsl1 A G 10: 18,399,794 (GRCm39) D306G probably damaging Het
Nlrp2 A G 7: 5,331,544 (GRCm39) V284A probably benign Het
Pcdhb15 T C 18: 37,608,451 (GRCm39) V561A probably damaging Het
Pdcl2 T C 5: 76,460,344 (GRCm39) I177V possibly damaging Het
Pkd1l3 G A 8: 110,373,131 (GRCm39) probably null Het
Pla2g6 A C 15: 79,171,106 (GRCm39) probably benign Het
Plekhj1 A T 10: 80,632,444 (GRCm39) I122N probably damaging Het
Pmel T C 10: 128,550,175 (GRCm39) I70T probably benign Het
Psip1 T C 4: 83,383,196 (GRCm39) D273G probably damaging Het
Rictor A G 15: 6,816,021 (GRCm39) I1098V probably benign Het
Rif1 T C 2: 52,000,025 (GRCm39) S1160P probably damaging Het
Rsbn1l T C 5: 21,125,038 (GRCm39) I255V probably damaging Het
Slc15a5 A G 6: 137,994,914 (GRCm39) probably benign Het
Slc36a1 G A 11: 55,109,913 (GRCm39) A74T probably damaging Het
Slc5a7 A T 17: 54,600,046 (GRCm39) Y122* probably null Het
Slc6a3 G T 13: 73,709,047 (GRCm39) G324W probably damaging Het
Sltm T C 9: 70,486,633 (GRCm39) S433P probably damaging Het
Spta1 T C 1: 174,070,745 (GRCm39) S2190P probably damaging Het
Sry A T Y: 2,662,818 (GRCm39) F281I unknown Het
Stk32a T A 18: 43,438,060 (GRCm39) probably null Het
Sytl2 T C 7: 90,052,228 (GRCm39) probably benign Het
Tbl3 G A 17: 24,920,781 (GRCm39) H612Y probably damaging Het
Tmem144 G A 3: 79,746,580 (GRCm39) probably benign Het
Top2a A G 11: 98,907,249 (GRCm39) probably benign Het
Usp9y A T Y: 1,333,606 (GRCm39) probably benign Het
Vldlr G A 19: 27,218,051 (GRCm39) probably benign Het
Vmn1r28 G A 6: 58,242,702 (GRCm39) A182T probably benign Het
Vmn2r28 A G 7: 5,491,020 (GRCm39) L409P probably damaging Het
Vps13c T C 9: 67,834,648 (GRCm39) V1659A probably damaging Het
Wdr17 C T 8: 55,146,131 (GRCm39) A90T possibly damaging Het
Zfp280d A T 9: 72,238,621 (GRCm39) K646* probably null Het
Zfp36 A G 7: 28,077,666 (GRCm39) S81P probably benign Het
Zfp618 A T 4: 63,051,171 (GRCm39) T651S 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
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
R8851:Slc29a1 UTSW 17 45,900,402 (GRCm39) missense probably damaging 1.00
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'- ATGGCACAGATCATGGCGACAG -3'
(R):5'- GATCAATCATGCGAAAGCACCAAGG -3'

Sequencing Primer
(F):5'- CTGGCTTGCAAAATGGCAC -3'
(R):5'- AGTGCCATCTTCAACAATGTC -3'
Posted On 2013-04-16