Incidental Mutation 'IGL00782:Slc35b3'
ID 14087
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc35b3
Ensembl Gene ENSMUSG00000021432
Gene Name solute carrier family 35, member B3
Synonyms PAPST2, 4921526O06Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.635) question?
Stock # IGL00782
Quality Score
Status
Chromosome 13
Chromosomal Location 39116112-39144851 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 39127116 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 213 (S213P)
Ref Sequence ENSEMBL: ENSMUSP00000021870 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021870] [ENSMUST00000167513] [ENSMUST00000224429] [ENSMUST00000224645] [ENSMUST00000225331] [ENSMUST00000225461] [ENSMUST00000225396] [ENSMUST00000225714] [ENSMUST00000225432] [ENSMUST00000225568]
AlphaFold Q922Q5
Predicted Effect possibly damaging
Transcript: ENSMUST00000021870
AA Change: S213P

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000021870
Gene: ENSMUSG00000021432
AA Change: S213P

DomainStartEndE-ValueType
low complexity region 10 23 N/A INTRINSIC
Pfam:UAA 92 383 3.5e-95 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000167513
AA Change: S169P

PolyPhen 2 Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000126016
Gene: ENSMUSG00000021432
AA Change: S169P

DomainStartEndE-ValueType
Pfam:UAA 49 343 4e-98 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181087
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223619
Predicted Effect probably benign
Transcript: ENSMUST00000224429
Predicted Effect probably benign
Transcript: ENSMUST00000224645
Predicted Effect probably benign
Transcript: ENSMUST00000225331
Predicted Effect possibly damaging
Transcript: ENSMUST00000225461
AA Change: V117A

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000225396
AA Change: S5P

PolyPhen 2 Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect possibly damaging
Transcript: ENSMUST00000225714
AA Change: V117A

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect possibly damaging
Transcript: ENSMUST00000225432
AA Change: S169P

PolyPhen 2 Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)
Predicted Effect probably benign
Transcript: ENSMUST00000225568
AA Change: S71P

PolyPhen 2 Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the solute carrier family. The encoded protein is involved in the transport of 3-prime phosphoadenosine 5-prime phosphosulfate (PAPS) from the nucleus or the cytosol to the Golgi lumen. This gene has been reported to be expressed preferentially in the human colon tissues. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
Allele List at MGI
Other mutations in this stock
Total: 17 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm2 A T 7: 119,172,391 (GRCm39) E78V probably damaging Het
Atxn7 A G 14: 14,096,218 (GRCm38) I508V possibly damaging Het
Cecr2 A G 6: 120,738,582 (GRCm39) N1075S probably benign Het
Clcn3 A G 8: 61,375,826 (GRCm39) I689T probably damaging Het
Cntnap3 T C 13: 64,893,619 (GRCm39) probably benign Het
Defb11 T C 8: 22,395,510 (GRCm39) I56V probably benign Het
Ercc5 A G 1: 44,203,095 (GRCm39) N244S probably damaging Het
Gabrg3 A G 7: 57,031,415 (GRCm39) S42P probably damaging Het
Hcrtr2 A T 9: 76,137,779 (GRCm39) probably benign Het
Jcad T C 18: 4,675,073 (GRCm39) L945S probably benign Het
Lrp2 T C 2: 69,331,989 (GRCm39) M1589V probably benign Het
Prkg1 C T 19: 30,556,153 (GRCm39) probably benign Het
Samd1 T C 8: 84,726,246 (GRCm39) F464S probably damaging Het
Taar1 A G 10: 23,796,344 (GRCm39) N14S probably benign Het
Tinf2 A G 14: 55,917,921 (GRCm39) probably null Het
Utrn T C 10: 12,528,555 (GRCm39) N2140S probably benign Het
Zfp780b T C 7: 27,664,186 (GRCm39) D123G probably benign Het
Other mutations in Slc35b3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02111:Slc35b3 APN 13 39,139,758 (GRCm39) missense probably damaging 0.99
R0883:Slc35b3 UTSW 13 39,121,251 (GRCm39) missense probably benign 0.09
R1170:Slc35b3 UTSW 13 39,121,307 (GRCm39) missense probably benign 0.03
R1440:Slc35b3 UTSW 13 39,138,110 (GRCm39) nonsense probably null
R1653:Slc35b3 UTSW 13 39,139,774 (GRCm39) missense probably benign 0.02
R1900:Slc35b3 UTSW 13 39,144,587 (GRCm39) critical splice donor site probably null
R3874:Slc35b3 UTSW 13 39,127,044 (GRCm39) missense possibly damaging 0.66
R3897:Slc35b3 UTSW 13 39,118,739 (GRCm39) missense probably benign 0.09
R4399:Slc35b3 UTSW 13 39,121,791 (GRCm39) missense possibly damaging 0.95
R4937:Slc35b3 UTSW 13 39,116,887 (GRCm39) missense possibly damaging 0.89
R4955:Slc35b3 UTSW 13 39,116,866 (GRCm39) missense probably benign 0.08
R5034:Slc35b3 UTSW 13 39,127,134 (GRCm39) missense probably damaging 1.00
R5770:Slc35b3 UTSW 13 39,121,734 (GRCm39) missense probably damaging 0.98
R6155:Slc35b3 UTSW 13 39,128,572 (GRCm39) missense probably damaging 1.00
R6663:Slc35b3 UTSW 13 39,138,112 (GRCm39) missense probably damaging 0.99
R7701:Slc35b3 UTSW 13 39,128,611 (GRCm39) missense probably benign 0.03
R8534:Slc35b3 UTSW 13 39,128,566 (GRCm39) missense probably benign 0.17
R8796:Slc35b3 UTSW 13 39,121,722 (GRCm39) critical splice donor site probably benign
R8950:Slc35b3 UTSW 13 39,138,097 (GRCm39) missense probably damaging 1.00
R9185:Slc35b3 UTSW 13 39,123,958 (GRCm39) splice site probably benign
Posted On 2012-12-06