Incidental Mutation 'IGL02270:Slc28a3'
ID287099
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 #IGL02270
Quality Score
Status
Chromosome13
Chromosomal Location58545399-58610877 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 58580584 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 104 (T104A)
Ref Sequence ENSEMBL: ENSMUSP00000022036 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022036] [ENSMUST00000148396]
Predicted Effect probably benign
Transcript: ENSMUST00000022036
AA Change: T104A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000022036
Gene: ENSMUSG00000021553
AA Change: T104A

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: ENSMUST00000148396
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 T C 13: 81,559,195 probably null Het
Bmi1 T A 2: 18,684,458 S318T probably benign Het
Cntnap5c G A 17: 58,034,853 V180I probably benign Het
Cyp2b10 A G 7: 25,913,937 E186G probably damaging Het
Ddx25 G T 9: 35,554,412 probably benign Het
Dis3 A G 14: 99,078,354 F901L probably benign Het
Dnah7a T A 1: 53,472,893 N3003I possibly damaging Het
Ebf2 A G 14: 67,238,953 D124G probably damaging Het
Efcab5 A T 11: 77,104,313 I1144N probably damaging Het
Exoc4 G A 6: 33,580,026 V489I possibly damaging Het
Garem1 A G 18: 21,148,450 V283A probably damaging Het
Gfra2 G A 14: 70,925,907 R210H possibly damaging Het
Gli3 T C 13: 15,726,786 probably benign Het
Gm7247 A T 14: 51,521,884 M107L probably benign Het
Map2k5 A T 9: 63,322,197 probably null Het
Mki67 C T 7: 135,698,632 D1558N probably damaging Het
Mylk4 A G 13: 32,729,066 probably benign Het
Olfr1 A G 11: 73,395,365 V219A probably benign Het
Olfr112 G T 17: 37,563,580 H244N possibly damaging Het
Olfr2 A T 7: 107,001,423 C146S probably damaging Het
Olfr669 A G 7: 104,939,369 N281S possibly damaging Het
Plcd1 T C 9: 119,084,641 T50A probably damaging Het
Rasgrp3 A G 17: 75,516,373 R480G probably benign Het
Ripor3 T C 2: 167,993,496 E185G probably damaging Het
S1pr3 T C 13: 51,419,056 I91T probably benign Het
Slc26a4 C T 12: 31,528,854 probably benign Het
Slc6a11 A G 6: 114,238,396 D419G probably damaging Het
St3gal2 A G 8: 110,957,766 I19V probably benign Het
Sycp1 C A 3: 102,895,943 C517F probably benign Het
Trav15-1-dv6-1 G A 14: 53,559,998 E35K possibly damaging Het
Vmn1r121 T C 7: 21,098,476 E13G probably damaging Het
Vmn1r199 T A 13: 22,383,006 S114T probably damaging Het
Vmn2r-ps159 T C 4: 156,334,655 noncoding transcript 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
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
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