Incidental Mutation 'R1653:Slc35b3'
ID 188876
Institutional Source Beutler Lab
Gene Symbol Slc35b3
Ensembl Gene ENSMUSG00000021432
Gene Name solute carrier family 35, member B3
Synonyms PAPST2, 4921526O06Rik
MMRRC Submission 039689-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.635) question?
Stock # R1653 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 39116112-39144851 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 39139774 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 18 (S18P)
Ref Sequence ENSEMBL: ENSMUSP00000153154 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021870] [ENSMUST00000167513] [ENSMUST00000224429] [ENSMUST00000225331] [ENSMUST00000225714] [ENSMUST00000225461] [ENSMUST00000225432] [ENSMUST00000225568] [ENSMUST00000224645]
AlphaFold Q922Q5
Predicted Effect probably benign
Transcript: ENSMUST00000021870
AA Change: S62P

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000021870
Gene: ENSMUSG00000021432
AA Change: S62P

DomainStartEndE-ValueType
low complexity region 10 23 N/A INTRINSIC
Pfam:UAA 92 383 3.5e-95 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000167513
AA Change: S18P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000126016
Gene: ENSMUSG00000021432
AA Change: S18P

DomainStartEndE-ValueType
Pfam:UAA 49 343 4e-98 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181087
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181376
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223619
Predicted Effect probably benign
Transcript: ENSMUST00000224429
Predicted Effect probably benign
Transcript: ENSMUST00000225331
AA Change: S18P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Predicted Effect probably benign
Transcript: ENSMUST00000225714
AA Change: S18P

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
Predicted Effect probably benign
Transcript: ENSMUST00000225461
AA Change: S18P

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
Predicted Effect probably benign
Transcript: ENSMUST00000225432
AA Change: S18P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224854
Predicted Effect probably benign
Transcript: ENSMUST00000225568
Predicted Effect probably benign
Transcript: ENSMUST00000224645
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.7%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34 A T 8: 44,103,682 (GRCm39) C654* probably null Het
Adamts19 T A 18: 59,023,365 (GRCm39) N253K probably benign Het
Adgrb3 A G 1: 25,140,584 (GRCm39) L1162S probably benign Het
Ap2b1 T A 11: 83,237,657 (GRCm39) Y574N probably damaging Het
Atrn A G 2: 130,777,544 (GRCm39) I198V probably benign Het
Bcan T A 3: 87,901,503 (GRCm39) I400F probably damaging Het
Capn10 A G 1: 92,874,620 (GRCm39) Y617C probably damaging Het
Capn8 A G 1: 182,451,516 (GRCm39) N578D probably benign Het
Casd1 T C 6: 4,624,134 (GRCm39) L309P probably benign Het
Ccser1 T A 6: 61,288,449 (GRCm39) I204K probably benign Het
Cd276 T C 9: 58,444,732 (GRCm39) T80A probably benign Het
Cdh3 T C 8: 107,265,700 (GRCm39) S248P probably damaging Het
Celsr2 T C 3: 108,320,836 (GRCm39) T659A possibly damaging Het
Col6a4 C T 9: 105,949,608 (GRCm39) V676I probably damaging Het
Crmp1 T A 5: 37,443,812 (GRCm39) V575D probably damaging Het
Ep400 G A 5: 110,841,040 (GRCm39) Q1795* probably null Het
Gcnt3 A G 9: 69,942,359 (GRCm39) C70R probably damaging Het
Gm12258 T C 11: 58,749,113 (GRCm39) I96T possibly damaging Het
Gpr183 A G 14: 122,191,675 (GRCm39) F282S probably damaging Het
Igfals T C 17: 25,100,052 (GRCm39) V381A probably benign Het
Irs3 C A 5: 137,642,783 (GRCm39) L218F probably damaging Het
Kdm5b T C 1: 134,530,219 (GRCm39) F410S probably damaging Het
Klc4 T C 17: 46,942,785 (GRCm39) Y593C possibly damaging Het
Lce1h T A 3: 92,670,750 (GRCm39) Q134L unknown Het
Lyst T C 13: 13,809,811 (GRCm39) S494P probably damaging Het
Marchf3 A G 18: 56,944,967 (GRCm39) M42T probably benign Het
Myh7 A G 14: 55,228,246 (GRCm39) I250T probably benign Het
N4bp1 G T 8: 87,571,576 (GRCm39) H807Q probably benign Het
Ndn C T 7: 61,998,256 (GRCm39) P34L probably benign Het
Nfs1 C T 2: 155,967,256 (GRCm39) G44D probably damaging Het
Nrg1 C T 8: 32,308,681 (GRCm39) R445H probably damaging Het
Or14c43 T C 7: 86,115,420 (GRCm39) V267A probably benign Het
Or4e5 A T 14: 52,728,229 (GRCm39) F64Y probably damaging Het
Or56a5 T A 7: 104,793,077 (GRCm39) D141V possibly damaging Het
Pak5 C T 2: 135,958,807 (GRCm39) V94M probably damaging Het
Pdk1 G A 2: 71,719,339 (GRCm39) probably null Het
Sin3b G T 8: 73,468,147 (GRCm39) V290L probably benign Het
Sirt1 T C 10: 63,157,588 (GRCm39) T609A probably benign Het
Skint5 A T 4: 113,347,875 (GRCm39) S1289T unknown Het
Slc32a1 A T 2: 158,456,809 (GRCm39) H488L probably benign Het
Spaca7 T A 8: 12,636,501 (GRCm39) I109K possibly damaging Het
Tmem204 A G 17: 25,299,501 (GRCm39) L6P possibly damaging Het
Tubgcp6 G A 15: 88,991,645 (GRCm39) R651C probably damaging Het
Vps13b T A 15: 35,607,418 (GRCm39) L1117* probably null Het
Wdcp T C 12: 4,901,815 (GRCm39) L557P probably damaging Het
Wwp2 T C 8: 108,210,042 (GRCm39) F140S possibly damaging Het
Zfp429 C T 13: 67,538,043 (GRCm39) R467H possibly damaging Het
Zfp747l1 G T 7: 126,983,652 (GRCm39) H483Q possibly damaging Het
Zfp839 T A 12: 110,821,684 (GRCm39) M166K probably benign Het
Zfyve9 G A 4: 108,517,774 (GRCm39) Q1106* probably null Het
Zrsr2-ps1 T A 11: 22,924,158 (GRCm39) C311S probably damaging Het
Other mutations in Slc35b3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00782:Slc35b3 APN 13 39,127,116 (GRCm39) missense possibly damaging 0.82
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
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
Predicted Primers PCR Primer
(F):5'- TCTCAAGCCAAGGGTCACCAGATAG -3'
(R):5'- GCTGTGGGTGGTAACAGTGATATCCAG -3'

Sequencing Primer
(F):5'- GCTAACGTTTTCATTGACAAATGAC -3'
(R):5'- ATCCGAAAAGAGCAGAGACC -3'
Posted On 2014-05-09