Incidental Mutation 'R5244:Slc29a1'
ID 401084
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 042815-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5244 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 45896126-45910532 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 45899339 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000129345 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051574] [ENSMUST00000064889] [ENSMUST00000097317] [ENSMUST00000163492] [ENSMUST00000163905] [ENSMUST00000164217] [ENSMUST00000164618] [ENSMUST00000166633] [ENSMUST00000170488] [ENSMUST00000166119] [ENSMUST00000169729] [ENSMUST00000170113] [ENSMUST00000167195] [ENSMUST00000167692] [ENSMUST00000168274] [ENSMUST00000167332] [ENSMUST00000164769] [ENSMUST00000171847] [ENSMUST00000172301] [ENSMUST00000171081]
AlphaFold Q9JIM1
Predicted Effect probably benign
Transcript: ENSMUST00000051574
SMART Domains Protein: ENSMUSP00000063096
Gene: ENSMUSG00000023942

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: ENSMUST00000064889
SMART Domains Protein: ENSMUSP00000063757
Gene: ENSMUSG00000023942

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 benign
Transcript: ENSMUST00000097317
SMART Domains Protein: ENSMUSP00000094923
Gene: ENSMUSG00000023942

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: ENSMUST00000163492
SMART Domains Protein: ENSMUSP00000129242
Gene: ENSMUSG00000023942

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 benign
Transcript: ENSMUST00000164217
SMART Domains Protein: ENSMUSP00000131646
Gene: ENSMUSG00000023942

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 noncoding transcript
Transcript: ENSMUST00000167748
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167863
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170425
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 benign
Transcript: ENSMUST00000166633
SMART Domains Protein: ENSMUSP00000131075
Gene: ENSMUSG00000023942

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: ENSMUST00000170488
Predicted Effect probably benign
Transcript: ENSMUST00000166119
SMART Domains Protein: ENSMUSP00000128763
Gene: ENSMUSG00000023942

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: 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: 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: ENSMUST00000167692
SMART Domains Protein: ENSMUSP00000131976
Gene: ENSMUSG00000023942

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: ENSMUST00000167332
SMART Domains Protein: ENSMUSP00000131483
Gene: ENSMUSG00000023942

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000164769
SMART Domains Protein: ENSMUSP00000131116
Gene: ENSMUSG00000023942

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 noncoding transcript
Transcript: ENSMUST00000171978
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171876
Predicted Effect probably benign
Transcript: ENSMUST00000171847
SMART Domains Protein: ENSMUSP00000126703
Gene: ENSMUSG00000023942

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
Predicted Effect probably benign
Transcript: ENSMUST00000171081
SMART Domains Protein: ENSMUSP00000131217
Gene: ENSMUSG00000023942

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 97% (63/65)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930550C14Rik G T 9: 53,323,098 (GRCm39) G45W probably damaging Het
Abca13 C T 11: 9,225,081 (GRCm39) T520I probably benign Het
Adamtsl3 C T 7: 82,247,277 (GRCm39) P485L probably benign Het
Bbof1 A C 12: 84,476,847 (GRCm39) E492A possibly damaging Het
Capn11 T C 17: 45,944,818 (GRCm39) E483G probably damaging Het
Cbs C T 17: 31,836,134 (GRCm39) G438D probably damaging Het
Chil6 A G 3: 106,297,290 (GRCm39) Y284H probably damaging Het
Cops4 C A 5: 100,681,241 (GRCm39) Q131K probably benign Het
Cul4a T C 8: 13,196,566 (GRCm39) I740T probably damaging Het
Cyfip1 C T 7: 55,574,947 (GRCm39) T1066I probably damaging Het
Dnah7b T C 1: 46,273,018 (GRCm39) L2382P probably damaging Het
Ehd3 A T 17: 74,136,995 (GRCm39) H388L probably benign Het
Fam13a G T 6: 58,930,459 (GRCm39) Y484* probably null Het
Gm5117 A G 8: 32,228,305 (GRCm39) noncoding transcript Het
Gulp1 G A 1: 44,827,613 (GRCm39) D260N probably damaging Het
Hhipl1 T A 12: 108,278,393 (GRCm39) N240K probably damaging Het
Hydin A T 8: 111,259,451 (GRCm39) E2474D possibly damaging Het
Ifi207 C T 1: 173,557,503 (GRCm39) V412I probably benign Het
Ighv9-4 T C 12: 114,263,871 (GRCm39) I21V probably benign Het
Kcnh1 A T 1: 191,907,184 (GRCm39) T79S probably benign Het
Kpna6 A G 4: 129,549,221 (GRCm39) probably null Het
Lnpk C T 2: 74,362,232 (GRCm39) G262D probably damaging Het
Lsm7 T C 10: 80,688,907 (GRCm39) E66G probably benign Het
Mbd3l1 T A 9: 18,395,933 (GRCm39) C19* probably null Het
Mfsd6l T A 11: 68,448,001 (GRCm39) L284Q possibly damaging Het
Naip5 C T 13: 100,382,170 (GRCm39) V180I probably benign Het
Or2ag1b T A 7: 106,288,396 (GRCm39) I181F probably benign Het
Or2j6 A T 7: 139,980,051 (GRCm39) C303S probably benign Het
Or4k39 T A 2: 111,238,899 (GRCm39) noncoding transcript Het
Or6d13 T A 6: 116,518,187 (GRCm39) Y258N probably damaging Het
Or7g22 A T 9: 19,049,147 (GRCm39) N286I probably damaging Het
Or8g20 T G 9: 39,395,808 (GRCm39) H247P probably damaging Het
Or8u10 C G 2: 85,915,300 (GRCm39) A274P probably damaging Het
Pck1 T A 2: 172,996,656 (GRCm39) I190N possibly damaging Het
Pfkfb3 T A 2: 11,489,660 (GRCm39) I209F probably damaging Het
Phc1 A G 6: 122,298,938 (GRCm39) S677P probably damaging Het
Pirb G A 7: 3,719,062 (GRCm39) A609V probably benign Het
Plag1 A T 4: 3,903,887 (GRCm39) S435T probably benign Het
Plscr2 C G 9: 92,173,102 (GRCm39) L215V probably benign Het
Pnma8a A G 7: 16,695,248 (GRCm39) S368G probably damaging Het
Polr2b A G 5: 77,490,847 (GRCm39) probably benign Het
Pthlh T C 6: 147,158,651 (GRCm39) Y103C probably damaging Het
Ptprq A G 10: 107,422,556 (GRCm39) V1612A possibly damaging Het
Rprd2 T A 3: 95,697,494 (GRCm39) I85L possibly damaging Het
Slc27a2 T C 2: 126,420,775 (GRCm39) V422A probably benign Het
Slc36a4 A T 9: 15,645,574 (GRCm39) I334F probably benign Het
Slc4a10 T A 2: 62,119,069 (GRCm39) S761R probably damaging Het
Spa17 T A 9: 37,523,285 (GRCm39) M1L probably damaging Het
Srsf11 C T 3: 157,728,981 (GRCm39) probably benign Het
Stk19 A G 17: 35,051,046 (GRCm39) L72P probably damaging Het
Trhde T C 10: 114,636,986 (GRCm39) M74V probably benign Het
Trim37 C T 11: 87,109,083 (GRCm39) H937Y probably benign Het
Ttc7b A G 12: 100,314,269 (GRCm39) L46P probably damaging Het
Ttll4 T C 1: 74,735,607 (GRCm39) V1005A probably benign Het
Ugt2b36 T C 5: 87,239,765 (GRCm39) T207A probably damaging Het
Unc13c C T 9: 73,433,233 (GRCm39) probably null Het
Vmn1r221 T C 13: 23,401,808 (GRCm39) noncoding transcript Het
Vmn2r101 T C 17: 19,831,788 (GRCm39) S595P probably damaging Het
Wnt10a T C 1: 74,842,454 (GRCm39) L310P probably damaging Het
Yif1b G A 7: 28,943,866 (GRCm39) A115T probably damaging Het
Zfp219 C A 14: 52,245,999 (GRCm39) R331L 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
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'- AGCCCAGTCTTAGATCAGAAAG -3'
(R):5'- AATGTCTCGGGCATTCGGAC -3'

Sequencing Primer
(F):5'- CCCAGTCTTAGATCAGAAAGGGAAG -3'
(R):5'- CATTCGGACAGAGGTCAGC -3'
Posted On 2016-07-06