Incidental Mutation 'R7701:Slc35b3'
ID 594022
Institutional Source Beutler Lab
Gene Symbol Slc35b3
Ensembl Gene ENSMUSG00000021432
Gene Name solute carrier family 35, member B3
Synonyms PAPST2, 4921526O06Rik
MMRRC Submission 045762-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.635) question?
Stock # R7701 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 39116112-39144851 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 39128611 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 159 (M159V)
Ref Sequence ENSEMBL: ENSMUSP00000021870 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021870] [ENSMUST00000167513] [ENSMUST00000224429] [ENSMUST00000224645] [ENSMUST00000225331] [ENSMUST00000225396] [ENSMUST00000225432] [ENSMUST00000225461] [ENSMUST00000225568] [ENSMUST00000225714]
AlphaFold Q922Q5
Predicted Effect probably benign
Transcript: ENSMUST00000021870
AA Change: M159V

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000021870
Gene: ENSMUSG00000021432
AA Change: M159V

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: M115V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000126016
Gene: ENSMUSG00000021432
AA Change: M115V

DomainStartEndE-ValueType
Pfam:UAA 49 343 4e-98 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000224429
Predicted Effect probably benign
Transcript: ENSMUST00000224645
Predicted Effect probably benign
Transcript: ENSMUST00000225331
AA Change: M115V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
Predicted Effect probably benign
Transcript: ENSMUST00000225396
Predicted Effect probably benign
Transcript: ENSMUST00000225432
AA Change: M115V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
Predicted Effect probably benign
Transcript: ENSMUST00000225461
Predicted Effect probably benign
Transcript: ENSMUST00000225568
AA Change: M17V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
Predicted Effect probably benign
Transcript: ENSMUST00000225714
Meta Mutation Damage Score 0.0973 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 100% (57/57)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930470P17Rik T C 2: 170,443,225 (GRCm39) probably benign Het
4932414N04Rik G A 2: 68,561,548 (GRCm39) V292M possibly damaging Het
Actn1 A T 12: 80,221,328 (GRCm39) V575E possibly damaging Het
Arhgef1 T C 7: 24,612,003 (GRCm39) S129P probably benign Het
Aup1 T C 6: 83,032,908 (GRCm39) V214A probably benign Het
Bbs10 A G 10: 111,135,874 (GRCm39) E329G probably damaging Het
Brinp2 A G 1: 158,094,030 (GRCm39) probably null Het
Ccdc3 A G 2: 5,142,868 (GRCm39) T42A possibly damaging Het
Cd276 T C 9: 58,442,810 (GRCm39) N215S probably benign Het
Col24a1 T A 3: 145,020,772 (GRCm39) M381K probably benign Het
Col24a1 A G 3: 145,072,656 (GRCm39) probably null Het
Col6a4 A C 9: 105,960,087 (GRCm39) F19V probably benign Het
Crybg1 G T 10: 43,865,139 (GRCm39) A1446E probably benign Het
Dach1 C T 14: 98,140,670 (GRCm39) R496K probably damaging Het
Dchs2 A G 3: 83,253,513 (GRCm39) T2308A possibly damaging Het
Duxf1 A G 10: 58,058,885 (GRCm39) V623A possibly damaging Het
Dync1h1 G A 12: 110,585,080 (GRCm39) D828N probably damaging Het
Eif2a A T 3: 58,459,991 (GRCm39) H462L possibly damaging Het
Flot2 A G 11: 77,928,942 (GRCm39) probably null Het
Gas2 T G 7: 51,643,101 (GRCm39) Y263* probably null Het
Gm5111 A G 6: 48,567,027 (GRCm39) I81V unknown Het
Iqcm A G 8: 76,281,539 (GRCm39) I7M probably benign Het
Kank1 G A 19: 25,389,129 (GRCm39) probably null Het
Lnx2 A T 5: 146,961,333 (GRCm39) V533E probably damaging Het
Mapk8ip3 G T 17: 25,120,378 (GRCm39) P904T possibly damaging Het
Mcm5 C A 8: 75,850,551 (GRCm39) H596N probably benign Het
Miip A T 4: 147,947,371 (GRCm39) V237E probably null Het
Mob3a G A 10: 80,525,768 (GRCm39) A181V probably damaging Het
Mrpl38 G A 11: 116,026,104 (GRCm39) R99W probably benign Het
Naa25 A G 5: 121,564,042 (GRCm39) T486A probably benign Het
Or2z9 T A 8: 72,854,030 (GRCm39) L142Q probably damaging Het
Or5b102 A G 19: 13,041,445 (GRCm39) I223M probably damaging Het
Or8g4 A G 9: 39,662,597 (GRCm39) Y305C probably benign Het
Pcdha8 A T 18: 37,126,864 (GRCm39) N449Y probably damaging Het
Pcdhb6 A T 18: 37,467,562 (GRCm39) D161V probably damaging Het
Pdlim3 A G 8: 46,361,576 (GRCm39) D134G probably benign Het
Phpt1 A G 2: 25,464,799 (GRCm39) V18A probably benign Het
Prg4 T C 1: 150,333,293 (GRCm39) K177E possibly damaging Het
Psmb1 A G 17: 15,697,509 (GRCm39) F202S probably benign Het
Rab14 A G 2: 35,073,427 (GRCm39) F150L Het
Rgs14 A G 13: 55,527,138 (GRCm39) D169G probably damaging Het
Rreb1 C T 13: 38,114,092 (GRCm39) L484F possibly damaging Het
Rsph14 A T 10: 74,793,608 (GRCm39) Y264* probably null Het
Scly T C 1: 91,236,030 (GRCm39) I152T Het
Ska1 A T 18: 74,335,714 (GRCm39) H85Q probably damaging Het
Smok2b A G 17: 13,453,767 (GRCm39) probably benign Het
Spock1 G A 13: 57,735,472 (GRCm39) Q103* probably null Het
Topbp1 T C 9: 103,210,184 (GRCm39) V914A probably damaging Het
Tspan3 A T 9: 56,054,803 (GRCm39) Y41* probably null Het
Ttll3 CAAAGTAA CAAAGTAAAGTAA 6: 113,376,118 (GRCm39) probably null Het
Ttn T G 2: 76,560,028 (GRCm39) I29458L possibly damaging Het
Tubgcp3 A G 8: 12,705,974 (GRCm39) S183P probably benign Het
Zfat C A 15: 68,052,757 (GRCm39) E346* probably null Het
Zfp341 T A 2: 154,476,000 (GRCm39) probably null Het
Zfp54 A G 17: 21,654,357 (GRCm39) T284A probably benign 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
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
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'- GAACTCAGTTGTGGACATTTGATTG -3'
(R):5'- TACCGATAAGCAGTGTTACAACTTG -3'

Sequencing Primer
(F):5'- TGCCAGATGCCACAACATAGTTG -3'
(R):5'- GCAGTGTTACAACTTGAAAAGAATG -3'
Posted On 2019-11-12