Incidental Mutation 'IGL03242:Slc28a3'
ID414870
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 #IGL03242
Quality Score
Status
Chromosome13
Chromosomal Location58545399-58610877 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to A at 58574249 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Stop codon at position 274 (Q274*)
Ref Sequence ENSEMBL: ENSMUSP00000022036 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022036]
Predicted Effect probably null
Transcript: ENSMUST00000022036
AA Change: Q274*
SMART Domains Protein: ENSMUSP00000022036
Gene: ENSMUSG00000021553
AA Change: Q274*

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 noncoding transcript
Transcript: ENSMUST00000224906
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600015I10Rik T C 6: 48,932,545 F575L possibly damaging Het
4930562C15Rik T C 16: 4,849,325 W221R unknown Het
Ank2 A G 3: 126,928,805 F1000L possibly damaging Het
Bahcc1 T C 11: 120,268,300 probably benign Het
BC024139 T C 15: 76,120,320 M679V probably benign Het
BC027072 A G 17: 71,750,271 S804P probably benign Het
Carmil2 A G 8: 105,691,320 probably benign Het
Catsperg2 A G 7: 29,725,479 probably benign Het
Chrnb4 A T 9: 55,035,528 I154K probably damaging Het
Clec2e A C 6: 129,095,026 L130W probably damaging Het
Coro2b G T 9: 62,428,961 Y281* probably null Het
Dlk2 A G 17: 46,302,977 Y386C probably benign Het
Dnah7a A T 1: 53,620,723 F709I probably benign Het
Exoc1 T C 5: 76,559,007 L467P probably damaging Het
Fkbp2 A G 19: 6,978,612 V75A probably benign Het
Glud1 T C 14: 34,334,280 F304L probably benign Het
Gm11639 A C 11: 105,106,404 E140A probably damaging Het
Gsr T A 8: 33,685,599 V291E probably benign Het
Kap A G 6: 133,851,800 probably benign Het
Kmt2a G T 9: 44,848,392 T720N probably damaging Het
Lrrtm4 T C 6: 80,022,088 I161T probably benign Het
Lyst T A 13: 13,656,881 L1630* probably null Het
Med13l A G 5: 118,747,445 S1488G probably benign Het
Mlxip A G 5: 123,440,061 K147E probably damaging Het
Nalcn T C 14: 123,321,487 E810G possibly damaging Het
Olfr474 T C 7: 107,955,481 V280A possibly damaging Het
Olfr683 G A 7: 105,144,266 S15F probably benign Het
Olfr710 A G 7: 106,944,918 F28L possibly damaging Het
Piezo2 T C 18: 63,011,538 probably benign Het
Scgb2b7 A T 7: 31,705,081 C65S probably damaging Het
Serpina3j G A 12: 104,319,701 A372T possibly damaging Het
Ssfa2 C T 2: 79,643,471 R189* probably null Het
Stk36 T C 1: 74,623,352 F543S possibly damaging Het
Tfrc T C 16: 32,630,112 S690P probably damaging Het
Tg C A 15: 66,683,798 Q780K probably damaging Het
Top1 T A 2: 160,715,733 H578Q probably damaging Het
Treh A G 9: 44,685,337 T463A possibly damaging Het
Treml1 G A 17: 48,365,988 probably benign Het
Trpm2 A G 10: 77,917,734 V1312A probably benign Het
Ttc41 T A 10: 86,776,819 *1319K probably null Het
Tulp2 A G 7: 45,521,858 I354M probably damaging Het
Ugt2b35 T C 5: 87,007,395 L363P probably damaging Het
Usp13 A T 3: 32,902,069 M496L probably benign Het
Virma T C 4: 11,527,669 S1187P possibly damaging Het
Wdr76 T A 2: 121,542,470 C593S probably damaging Het
Zfp446 G A 7: 12,979,325 A97T 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
IGL02271:Slc28a3 APN 13 58558637 missense probably benign 0.21
IGL02373:Slc28a3 APN 13 58578404 critical splice donor site probably null
IGL02542:Slc28a3 APN 13 58573470 missense probably damaging 1.00
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
Posted On2016-08-02