Incidental Mutation 'IGL02373:Slc28a3'
ID291010
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 #IGL02373
Quality Score
Status
Chromosome13
Chromosomal Location58545399-58610877 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 58578404 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000022036 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022036] [ENSMUST00000148396]
Predicted Effect probably null
Transcript: ENSMUST00000022036
SMART Domains Protein: ENSMUSP00000022036
Gene: ENSMUSG00000021553

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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 C T 4: 86,249,805 L462F probably damaging Het
Adgrv1 T C 13: 81,459,713 D4080G possibly damaging Het
Apc A C 18: 34,316,159 D2002A probably damaging Het
Apobr T A 7: 126,585,391 F25I probably damaging Het
Cyp4a10 T A 4: 115,521,077 L120* probably null Het
Daam2 A G 17: 49,473,380 S704P probably damaging Het
Dcst1 G T 3: 89,357,891 N217K probably damaging Het
Efr3b C T 12: 3,983,391 V139I probably benign Het
Fmn1 C A 2: 113,364,126 P57Q unknown Het
Galnt1 G A 18: 24,280,035 G464D possibly damaging Het
Ggcx T A 6: 72,427,919 W437R probably damaging Het
Gm11487 T C 4: 73,403,643 M52V probably benign Het
Igkv13-54-1 T C 6: 69,617,320 noncoding transcript Het
Iglon5 T C 7: 43,479,219 E58G probably benign Het
Met C T 6: 17,491,529 P97S probably damaging Het
Myg1 T A 15: 102,336,833 M158K probably damaging Het
Ncald T A 15: 37,372,209 M131L probably benign Het
Nipa2 T C 7: 55,933,128 I290V probably benign Het
Olfr1307 C A 2: 111,944,833 V208L probably benign Het
Olfr507 A T 7: 108,622,103 Y97F probably benign Het
Olfr818 A G 10: 129,945,465 L84S probably benign Het
Ppfia3 C T 7: 45,358,849 R48Q probably damaging Het
Rab12 A G 17: 66,498,065 L156P probably damaging Het
Slc4a11 T C 2: 130,684,898 N770S probably benign Het
Tanc1 T C 2: 59,796,028 probably null Het
Vmn2r-ps130 A T 17: 23,076,892 R679* probably null Het
Vwa5b2 G A 16: 20,604,844 R1169H 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
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