Incidental Mutation 'R2206:Slc29a3'
ID 239059
Institutional Source Beutler Lab
Gene Symbol Slc29a3
Ensembl Gene ENSMUSG00000020100
Gene Name solute carrier family 29 (nucleoside transporters), member 3
Synonyms 4933435C21Rik, Ent3
MMRRC Submission 040208-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # R2206 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 60547851-60588573 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 60551686 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 453 (M453V)
Ref Sequence ENSEMBL: ENSMUSP00000112685 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000117513] [ENSMUST00000119595] [ENSMUST00000150845]
AlphaFold Q99P65
Predicted Effect possibly damaging
Transcript: ENSMUST00000117513
AA Change: M453V

PolyPhen 2 Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000112685
Gene: ENSMUSG00000020100
AA Change: M453V

DomainStartEndE-ValueType
transmembrane domain 50 72 N/A INTRINSIC
transmembrane domain 107 126 N/A INTRINSIC
transmembrane domain 133 155 N/A INTRINSIC
Pfam:Nucleoside_tran 169 473 2.2e-62 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000119595
SMART Domains Protein: ENSMUSP00000112426
Gene: ENSMUSG00000020100

DomainStartEndE-ValueType
transmembrane domain 50 72 N/A INTRINSIC
transmembrane domain 107 126 N/A INTRINSIC
transmembrane domain 133 155 N/A INTRINSIC
transmembrane domain 165 187 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127386
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144989
Predicted Effect probably benign
Transcript: ENSMUST00000150845
SMART Domains Protein: ENSMUSP00000119716
Gene: ENSMUSG00000020100

DomainStartEndE-ValueType
transmembrane domain 50 72 N/A INTRINSIC
low complexity region 117 125 N/A INTRINSIC
low complexity region 144 155 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nucleoside transporter. The encoded protein plays a role in cellular uptake of nucleosides, nucleobases, and their related analogs. Mutations in this gene have been associated with H syndrome, which is characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism. A related disorder, PHID (pigmented hypertrichosis with insulin-dependent diabetes mellitus), has also been associated with mutations at this locus. Alternatively spliced transcript variants have been described.[provided by RefSeq, Mar 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit lymphadenopathy, splenomegaly, histiocytic sarcoma, and premature death associated with extramedullary hematopoiesis, increased macrophage proliferation and apoptosis and abnormal lysosome function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057M21Rik A T 7: 130,964,331 (GRCm39) C24S probably benign Het
2410137M14Rik A G 17: 37,288,965 (GRCm39) probably benign Het
Abhd18 G A 3: 40,865,008 (GRCm39) G83D probably benign Het
Adam34 T C 8: 44,105,274 (GRCm39) I124V probably benign Het
Adck2 A G 6: 39,560,773 (GRCm39) D123G probably damaging Het
Arhgef2 A G 3: 88,537,221 (GRCm39) E37G probably damaging Het
Axl T C 7: 25,470,061 (GRCm39) Y466C probably damaging Het
B4galt3 C A 1: 171,101,613 (GRCm39) H196N probably damaging Het
Bpifb9a A T 2: 154,106,161 (GRCm39) probably null Het
Brip1 A G 11: 85,952,703 (GRCm39) V1026A probably benign Het
Cacna1h A T 17: 25,603,987 (GRCm39) S1282T probably benign Het
Calcr T C 6: 3,717,133 (GRCm39) Y109C probably damaging Het
Col9a2 C G 4: 120,911,455 (GRCm39) R599G probably damaging Het
Crygs C T 16: 22,624,301 (GRCm39) G102D possibly damaging Het
Cst13 A T 2: 148,665,202 (GRCm39) R66W probably damaging Het
Cstf2t A G 19: 31,061,175 (GRCm39) N237S probably benign Het
Dhx8 A G 11: 101,641,797 (GRCm39) T632A probably benign Het
Disp2 G T 2: 118,622,725 (GRCm39) Q1152H probably benign Het
Dlg1 A G 16: 31,672,664 (GRCm39) H599R probably benign Het
Dmxl1 T C 18: 50,027,161 (GRCm39) S2090P probably benign Het
Dnajc13 C G 9: 104,080,717 (GRCm39) V821L probably damaging Het
Dop1a T A 9: 86,403,652 (GRCm39) H1617Q probably benign Het
Emilin1 C T 5: 31,075,082 (GRCm39) P441L possibly damaging Het
Ephb4 T C 5: 137,355,981 (GRCm39) C197R probably damaging Het
Foxn1 C A 11: 78,249,630 (GRCm39) A632S probably benign Het
Fpr3 A C 17: 18,190,908 (GRCm39) T60P probably damaging Het
Gja4 A T 4: 127,206,410 (GRCm39) S118T probably benign Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Itfg1 A T 8: 86,502,827 (GRCm39) S246R probably benign Het
Kazn A T 4: 141,845,603 (GRCm39) probably null Het
Mdn1 T C 4: 32,716,271 (GRCm39) L2111P possibly damaging Het
Myo6 A G 9: 80,165,737 (GRCm39) Y374C probably benign Het
Odad2 C A 18: 7,223,676 (GRCm39) G456W probably benign Het
Or1a1 G T 11: 74,087,150 (GRCm39) V274L possibly damaging Het
Or1j16 G T 2: 36,530,201 (GRCm39) R50M possibly damaging Het
Or5b99 A G 19: 12,976,404 (GRCm39) D18G probably benign Het
Or9m1b A G 2: 87,836,579 (GRCm39) V181A probably benign Het
Pcdhb15 A T 18: 37,608,075 (GRCm39) T436S probably benign Het
Pcdhb18 T A 18: 37,624,342 (GRCm39) N557K probably damaging Het
Pcdhb6 T C 18: 37,468,633 (GRCm39) M518T probably benign Het
Pcmtd1 A T 1: 7,239,807 (GRCm39) I83L probably benign Het
Pitrm1 T A 13: 6,619,327 (GRCm39) Y721N probably damaging Het
Prcp C T 7: 92,577,820 (GRCm39) T328I probably damaging Het
Psg27 C A 7: 18,301,036 (GRCm39) E6* probably null Het
Pth1r T A 9: 110,552,655 (GRCm39) E465V probably damaging Het
Pus7l T C 15: 94,421,471 (GRCm39) Y613C probably damaging Het
Rsl1 A G 13: 67,330,892 (GRCm39) T447A probably benign Het
Setd3 C T 12: 108,073,544 (GRCm39) V578M probably benign Het
Slc10a1 T C 12: 81,014,402 (GRCm39) N106S probably damaging Het
Slc4a8 T C 15: 100,705,326 (GRCm39) V844A probably damaging Het
Sorcs1 T C 19: 50,218,655 (GRCm39) H609R possibly damaging Het
Spata31d1e A G 13: 59,890,920 (GRCm39) V300A probably benign Het
Tmppe C G 9: 114,234,640 (GRCm39) P313R probably benign Het
Tnxb A C 17: 34,928,391 (GRCm39) T2602P possibly damaging Het
Trip11 T C 12: 101,839,701 (GRCm39) N1643S probably benign Het
Trmt1l T C 1: 151,311,594 (GRCm39) probably null Het
Vmn1r177 A T 7: 23,565,556 (GRCm39) C107S probably damaging Het
Vmn1r225 A G 17: 20,722,611 (GRCm39) I17M possibly damaging Het
Vmn1r232 A G 17: 21,134,465 (GRCm39) L45P probably benign Het
Wdr7 T A 18: 63,910,678 (GRCm39) V690E possibly damaging Het
Xaf1 A T 11: 72,194,228 (GRCm39) E36D possibly damaging Het
Zbtb40 G A 4: 136,744,596 (GRCm39) Q275* probably null Het
Zfp513 T G 5: 31,357,767 (GRCm39) K202T probably damaging Het
Other mutations in Slc29a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01475:Slc29a3 APN 10 60,559,596 (GRCm39) missense possibly damaging 0.95
R1967:Slc29a3 UTSW 10 60,552,243 (GRCm39) missense probably benign
R1986:Slc29a3 UTSW 10 60,559,593 (GRCm39) missense probably damaging 1.00
R3891:Slc29a3 UTSW 10 60,552,040 (GRCm39) nonsense probably null
R4734:Slc29a3 UTSW 10 60,552,105 (GRCm39) missense probably benign 0.01
R4748:Slc29a3 UTSW 10 60,552,105 (GRCm39) missense probably benign 0.01
R4749:Slc29a3 UTSW 10 60,552,105 (GRCm39) missense probably benign 0.01
R5682:Slc29a3 UTSW 10 60,551,991 (GRCm39) missense probably benign 0.00
R5938:Slc29a3 UTSW 10 60,588,563 (GRCm39) unclassified probably benign
R6104:Slc29a3 UTSW 10 60,556,781 (GRCm39) missense possibly damaging 0.77
R6405:Slc29a3 UTSW 10 60,551,805 (GRCm39) missense probably damaging 0.98
R7341:Slc29a3 UTSW 10 60,586,437 (GRCm39) missense probably benign 0.25
R7683:Slc29a3 UTSW 10 60,552,145 (GRCm39) missense not run
R8527:Slc29a3 UTSW 10 60,566,401 (GRCm39) missense probably damaging 1.00
R8542:Slc29a3 UTSW 10 60,566,401 (GRCm39) missense probably damaging 1.00
R9245:Slc29a3 UTSW 10 60,559,755 (GRCm39) missense possibly damaging 0.89
R9544:Slc29a3 UTSW 10 60,551,960 (GRCm39) nonsense probably null
R9650:Slc29a3 UTSW 10 60,586,302 (GRCm39) missense possibly damaging 0.87
RF009:Slc29a3 UTSW 10 60,586,340 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- GATGTGCAAGGATGTGGCTC -3'
(R):5'- TGCTCTGTAACTACCAGCCG -3'

Sequencing Primer
(F):5'- GGGCTCTGCTCTGCATCAAAC -3'
(R):5'- GCGCTCACACTTGACCAAGG -3'
Posted On 2014-10-02