Incidental Mutation 'IGL01475:Slc29a3'
ID 88443
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc29a3
Ensembl Gene ENSMUSG00000020100
Gene Name solute carrier family 29 (nucleoside transporters), member 3
Synonyms 4933435C21Rik, Ent3
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # IGL01475
Quality Score
Status
Chromosome 10
Chromosomal Location 60547851-60588573 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 60559596 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 186 (V186A)
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: V186A

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000112685
Gene: ENSMUSG00000020100
AA Change: V186A

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 possibly damaging
Transcript: ENSMUST00000119595
AA Change: V186A

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000112426
Gene: ENSMUSG00000020100
AA Change: V186A

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
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700129C05Rik A T 14: 59,380,252 (GRCm39) N15K possibly damaging Het
Adam32 A T 8: 25,362,664 (GRCm39) I587K probably damaging Het
Adamtsl4 T C 3: 95,584,843 (GRCm39) S942G probably benign Het
Adamtsl5 A G 10: 80,180,750 (GRCm39) F104S probably damaging Het
Adgrf5 A G 17: 43,761,245 (GRCm39) D980G probably benign Het
Apba1 A T 19: 23,894,950 (GRCm39) D462V possibly damaging Het
Arhgef11 T C 3: 87,634,433 (GRCm39) probably benign Het
Cd74 T C 18: 60,943,393 (GRCm39) probably benign Het
Cdc16 T C 8: 13,831,542 (GRCm39) S592P probably benign Het
Cenpj A G 14: 56,802,502 (GRCm39) M21T possibly damaging Het
Col28a1 A G 6: 8,103,521 (GRCm39) L425S probably damaging Het
Dbt C T 3: 116,313,908 (GRCm39) T25I possibly damaging Het
Dguok C A 6: 83,467,552 (GRCm39) M98I possibly damaging Het
Dmxl1 T C 18: 50,004,781 (GRCm39) L943P probably damaging Het
Eloa G A 4: 135,738,231 (GRCm39) S243L probably benign Het
Enkur C A 2: 21,201,530 (GRCm39) A52S probably damaging Het
Ezh1 T C 11: 101,083,787 (GRCm39) E744G probably damaging Het
Fbxw11 T C 11: 32,672,101 (GRCm39) S190P possibly damaging Het
Foxb1 G A 9: 69,666,550 (GRCm39) probably benign Het
Gabra5 C T 7: 57,058,432 (GRCm39) G439S probably damaging Het
Gtf2h2 A T 13: 100,617,541 (GRCm39) V207D probably damaging Het
Hoatz A G 9: 51,011,358 (GRCm39) I93T probably benign Het
Krt76 A G 15: 101,796,948 (GRCm39) V317A probably benign Het
Lair1 C A 7: 4,012,683 (GRCm39) probably benign Het
Lrit2 T A 14: 36,791,051 (GRCm39) H243Q probably damaging Het
Mast3 C T 8: 71,232,174 (GRCm39) A1268T probably damaging Het
Matn2 G A 15: 34,316,671 (GRCm39) M4I possibly damaging Het
Mob1b T A 5: 88,897,502 (GRCm39) F137I probably damaging Het
Mreg T C 1: 72,203,325 (GRCm39) probably benign Het
Nom1 T C 5: 29,651,272 (GRCm39) V684A possibly damaging Het
Pate2 T A 9: 35,580,998 (GRCm39) L1Q probably null Het
Pla2r1 T C 2: 60,271,425 (GRCm39) probably benign Het
Plxna1 A G 6: 89,331,870 (GRCm39) F447L possibly damaging Het
Pno1 A T 11: 17,160,992 (GRCm39) I114N probably damaging Het
Ppp1r7 T G 1: 93,288,540 (GRCm39) probably benign Het
Pprc1 T A 19: 46,059,968 (GRCm39) Y1503N probably benign Het
Rab30 T C 7: 92,484,930 (GRCm39) V132A probably damaging Het
Slc15a4 T C 5: 127,679,024 (GRCm39) T439A probably benign Het
Stxbp5l G A 16: 37,165,454 (GRCm39) T88I possibly damaging Het
Tarbp1 A G 8: 127,160,701 (GRCm39) V1250A probably benign Het
Tcte2 A T 17: 13,937,824 (GRCm39) probably benign Het
Trp53bp1 A T 2: 121,100,800 (GRCm39) probably null Het
Trpc4 A T 3: 54,173,828 (GRCm39) L407F possibly damaging Het
Vmn1r6 T C 6: 56,979,896 (GRCm39) F164S probably damaging Het
Zfp579 C A 7: 4,997,743 (GRCm39) R56L probably benign Het
Other mutations in Slc29a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1967:Slc29a3 UTSW 10 60,552,243 (GRCm39) missense probably benign
R1986:Slc29a3 UTSW 10 60,559,593 (GRCm39) missense probably damaging 1.00
R2206:Slc29a3 UTSW 10 60,551,686 (GRCm39) missense possibly damaging 0.87
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
Posted On 2013-11-18