Incidental Mutation '7510:Slc28a1'
ID134
Institutional Source Beutler Lab
Gene Symbol Slc28a1
Ensembl Gene ENSMUSG00000025726
Gene Namesolute carrier family 28 (sodium-coupled nucleoside transporter), member 1
SynonymsCnt1
Accession Numbers

Genbank: NM_001004184; MGI: 3605073

Is this an essential gene? Probably non essential (E-score: 0.102) question?
Stock #7510 (G3) of strain sublytic
Quality Score
Status Validated
Chromosome7
Chromosomal Location81114799-81170416 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 81169269 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 622 (V622A)
Ref Sequence ENSEMBL: ENSMUSP00000112421 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026820] [ENSMUST00000119083]
Predicted Effect probably benign
Transcript: ENSMUST00000026820
AA Change: V622A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000026820
Gene: ENSMUSG00000025726
AA Change: V622A

DomainStartEndE-ValueType
transmembrane domain 82 104 N/A INTRINSIC
transmembrane domain 109 128 N/A INTRINSIC
transmembrane domain 149 168 N/A INTRINSIC
Pfam:Nucleos_tra2_N 183 257 1e-24 PFAM
Pfam:Gate 263 392 5.5e-10 PFAM
Pfam:Nucleos_tra2_C 366 591 4e-74 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000119083
AA Change: V622A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000112421
Gene: ENSMUSG00000025726
AA Change: V622A

DomainStartEndE-ValueType
transmembrane domain 82 104 N/A INTRINSIC
transmembrane domain 109 128 N/A INTRINSIC
transmembrane domain 149 168 N/A INTRINSIC
Pfam:Nucleos_tra2_N 183 256 4.8e-27 PFAM
Pfam:Gate 263 364 1.1e-9 PFAM
Pfam:Nucleos_tra2_C 366 590 9.2e-76 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 86.9%
  • 3x: 65.5%
Validation Efficiency 84% (77/92)
Allele List at MGI

All alleles(30) : Gene trapped(30)

Other mutations in this stock
Total: 2 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankmy2 T C 12: 36,157,412 V19A probably benign Het
Camk4 G T 18: 33,156,839 A180S probably null Homo
Other mutations in Slc28a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00959:Slc28a1 APN 7 81169068 splice site probably benign
IGL01386:Slc28a1 APN 7 81164679 missense probably benign 0.01
IGL02586:Slc28a1 APN 7 81164419 missense probably benign 0.04
IGL02695:Slc28a1 APN 7 81167991 missense probably benign 0.00
IGL02836:Slc28a1 APN 7 81126161 missense probably damaging 1.00
R0206:Slc28a1 UTSW 7 81117706 splice site probably benign
R0208:Slc28a1 UTSW 7 81117706 splice site probably benign
R0379:Slc28a1 UTSW 7 81138177 missense probably benign
R0733:Slc28a1 UTSW 7 81124900 missense probably benign 0.37
R1435:Slc28a1 UTSW 7 81153517 missense probably damaging 1.00
R1827:Slc28a1 UTSW 7 81138202 missense possibly damaging 0.85
R1909:Slc28a1 UTSW 7 81142035 missense probably damaging 1.00
R1917:Slc28a1 UTSW 7 81169586 missense probably benign 0.00
R2147:Slc28a1 UTSW 7 81126267 missense possibly damaging 0.94
R3804:Slc28a1 UTSW 7 81126221 missense probably damaging 1.00
R4004:Slc28a1 UTSW 7 81169038 missense probably damaging 1.00
R4967:Slc28a1 UTSW 7 81142009 missense possibly damaging 0.91
R5055:Slc28a1 UTSW 7 81169048 missense possibly damaging 0.77
R5256:Slc28a1 UTSW 7 81122121 missense probably damaging 0.98
R5494:Slc28a1 UTSW 7 81168039 missense probably damaging 1.00
R5924:Slc28a1 UTSW 7 81115612 missense probably benign 0.26
R6062:Slc28a1 UTSW 7 81115563 nonsense probably null
R6229:Slc28a1 UTSW 7 81125005 missense probably benign 0.00
R6737:Slc28a1 UTSW 7 81169248 missense probably benign 0.21
R8177:Slc28a1 UTSW 7 81164416 missense probably benign 0.05
RF018:Slc28a1 UTSW 7 81169284 splice site probably null
X0020:Slc28a1 UTSW 7 81124963 missense possibly damaging 0.85
Z1088:Slc28a1 UTSW 7 81138168 missense probably damaging 1.00
Nature of Mutation
DNA sequencing using the SOLiD technique identified a T to C transition at position 1960 of the Slc28a1 transcript in exon 17 of 18 total exons. Two transcripts of the Slc28a1 gene are displayed on Ensembl. The mutation causes a valine to alanine change at amino acid 622 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).
Protein Function and Prediction
The Slc28a1 gene encodes a 648 amino acid transmembrane protein that is predicted to be a sodium-dependent nucleoside transporter and is a member of the solute carrier family (SMART). 
 
The V622A change is predicted to be benign by the PolyPhen program.
Posted On2010-03-12