Incidental Mutation 'IGL02271:Slc28a3'
ID287124
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc28a3
Ensembl Gene ENSMUSG00000021553
Gene Namesolute carrier family 28 (sodium-coupled nucleoside transporter), member 3
SynonymsCnt3
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02271
Quality Score
Status
Chromosome13
Chromosomal Location58545399-58610877 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 58558637 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 597 (S597T)
Ref Sequence ENSEMBL: ENSMUSP00000022036 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022036] [ENSMUST00000140760]
Predicted Effect probably benign
Transcript: ENSMUST00000022036
AA Change: S597T

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000022036
Gene: ENSMUSG00000021553
AA Change: S597T

DomainStartEndE-ValueType
transmembrane domain 119 141 N/A INTRINSIC
transmembrane domain 146 163 N/A INTRINSIC
transmembrane domain 184 206 N/A INTRINSIC
Pfam:Nucleos_tra2_N 221 292 3.5e-27 PFAM
Pfam:Gate 300 401 4.9e-11 PFAM
Pfam:Nucleos_tra2_C 403 627 4.1e-83 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000140760
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Nucleoside transporters, such as SLC28A3, regulate multiple cellular processes, including neurotransmission, vascular tone, adenosine concentration in the vicinity of cell surface receptors, and transport and metabolism of nucleoside drugs. SLC28A3 shows broad specificity for pyrimidine and purine nucleosides (Ritzel et al., 2001 [PubMed 11032837]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Astn1 C T 1: 158,510,950 probably benign Het
Bms1 C A 6: 118,389,329 V1068F probably benign Het
Cand1 A T 10: 119,211,721 N621K probably damaging Het
Cd44 C T 2: 102,831,387 E418K possibly damaging Het
Clip2 A T 5: 134,502,571 N758K probably benign Het
Cst11 A T 2: 148,771,241 Y55N probably damaging Het
Cytip A T 2: 58,133,860 L316* probably null Het
Ddx52 T C 11: 83,952,231 M352T probably damaging Het
Fancd2 G A 6: 113,535,759 probably benign Het
Fat4 A T 3: 38,979,919 E2573D probably benign Het
Fbxl13 T G 5: 21,490,456 D646A probably damaging Het
Fhdc1 G A 3: 84,444,735 A1061V possibly damaging Het
Grid2ip A G 5: 143,388,909 D928G probably benign Het
Hmgxb3 A G 18: 61,132,213 L1231P probably damaging Het
Ifitm7 A G 16: 13,983,677 F73L probably damaging Het
Ikbkb T A 8: 22,665,903 T583S probably benign Het
Kdm6b G A 11: 69,406,067 A458V possibly damaging Het
Klra2 T C 6: 131,230,217 K143R probably benign Het
Kmt2d A G 15: 98,866,428 S42P possibly damaging Het
Krt78 T A 15: 101,948,593 M360L probably benign Het
Lamb1 A G 12: 31,300,251 N677S probably damaging Het
Lrrc9 G A 12: 72,510,381 V1407I probably benign Het
Myo6 A G 9: 80,260,831 T426A probably benign Het
Net1 T C 13: 3,887,663 Y146C probably damaging Het
Nlrp4d T A 7: 10,388,698 noncoding transcript Het
Notch4 A T 17: 34,568,471 N335I probably damaging Het
Olfr127 A T 17: 37,904,243 E232D probably benign Het
Olfr202 A T 16: 59,284,221 I92K probably damaging Het
Olfr920 A T 9: 38,756,488 T267S probably benign Het
Pax3 A T 1: 78,195,332 H80Q probably damaging Het
Pclo A T 5: 14,679,494 probably benign Het
Pdgfra A G 5: 75,187,906 D869G probably damaging Het
Per2 T C 1: 91,445,610 Y152C probably damaging Het
Pilrb2 T C 5: 137,866,863 D223G probably benign Het
Rag1 T A 2: 101,643,388 I470F probably damaging Het
Rap1gap T C 4: 137,718,006 S333P probably damaging Het
Rundc3b A G 5: 8,492,530 Y430H probably damaging Het
Ryr1 T C 7: 29,094,047 D1332G probably benign Het
Sgo1 G A 17: 53,679,539 A208V possibly damaging Het
Skint5 C T 4: 113,937,581 probably null Het
Slc26a4 C T 12: 31,528,854 probably benign Het
Slc4a5 T A 6: 83,271,103 probably benign Het
Slc52a3 A G 2: 152,005,528 probably benign Het
Stac3 A G 10: 127,503,899 D158G probably benign Het
Tdo2 T C 3: 81,963,917 probably benign Het
Usp25 A T 16: 77,115,447 E1018V probably damaging Het
Vmn1r46 T A 6: 89,976,904 F245Y probably damaging Het
Other mutations in Slc28a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00420:Slc28a3 APN 13 58574300 missense probably benign 0.05
IGL00432:Slc28a3 APN 13 58569411 splice site probably null
IGL00553:Slc28a3 APN 13 58563009 splice site probably null
IGL01725:Slc28a3 APN 13 58578510 missense probably benign 0.30
IGL02068:Slc28a3 APN 13 58558597 missense probably damaging 1.00
IGL02270:Slc28a3 APN 13 58580584 missense probably benign 0.00
IGL02373:Slc28a3 APN 13 58578404 critical splice donor site probably null
IGL02542:Slc28a3 APN 13 58573470 missense probably damaging 1.00
IGL03242:Slc28a3 APN 13 58574249 nonsense probably null
R0256:Slc28a3 UTSW 13 58573500 missense probably benign
R0323:Slc28a3 UTSW 13 58564052 nonsense probably null
R0391:Slc28a3 UTSW 13 58569415 splice site probably benign
R0838:Slc28a3 UTSW 13 58588269 missense probably benign 0.00
R1433:Slc28a3 UTSW 13 58563106 missense probably damaging 1.00
R1437:Slc28a3 UTSW 13 58558575 nonsense probably null
R3499:Slc28a3 UTSW 13 58573439 splice site probably benign
R3822:Slc28a3 UTSW 13 58558278 missense probably benign 0.00
R3948:Slc28a3 UTSW 13 58563010 splice site probably null
R4011:Slc28a3 UTSW 13 58566250 missense probably benign 0.06
R4028:Slc28a3 UTSW 13 58610756 missense probably benign 0.27
R4073:Slc28a3 UTSW 13 58559290 missense probably benign 0.01
R4745:Slc28a3 UTSW 13 58574263 missense possibly damaging 0.69
R4939:Slc28a3 UTSW 13 58558581 missense probably benign 0.44
R5416:Slc28a3 UTSW 13 58576793 missense probably damaging 0.99
R5421:Slc28a3 UTSW 13 58574265 missense possibly damaging 0.87
R5426:Slc28a3 UTSW 13 58563154 missense probably damaging 1.00
R5688:Slc28a3 UTSW 13 58558649 missense probably damaging 0.96
R6066:Slc28a3 UTSW 13 58578487 missense probably benign 0.00
R6790:Slc28a3 UTSW 13 58582650 missense probably benign 0.00
R6919:Slc28a3 UTSW 13 58573443 critical splice donor site probably null
R7009:Slc28a3 UTSW 13 58610804 missense probably benign 0.28
R7102:Slc28a3 UTSW 13 58588214 missense probably benign 0.04
R7305:Slc28a3 UTSW 13 58566231 missense possibly damaging 0.65
R7307:Slc28a3 UTSW 13 58563172 missense probably damaging 1.00
R7464:Slc28a3 UTSW 13 58563021 nonsense probably null
Posted On2015-04-16