Incidental Mutation 'IGL02951:Slc35b2'
ID 366002
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc35b2
Ensembl Gene ENSMUSG00000037089
Gene Name solute carrier family 35, member B2
Synonyms PAPST1, 1110003M08Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.463) question?
Stock # IGL02951
Quality Score
Status
Chromosome 17
Chromosomal Location 45874844-45878597 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 45875694 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 67 (E67G)
Ref Sequence ENSEMBL: ENSMUSP00000153497 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024739] [ENSMUST00000024742] [ENSMUST00000041353] [ENSMUST00000165127] [ENSMUST00000166469] [ENSMUST00000223987] [ENSMUST00000226086] [ENSMUST00000224905]
AlphaFold Q91ZN5
Predicted Effect probably benign
Transcript: ENSMUST00000024739
SMART Domains Protein: ENSMUSP00000024739
Gene: ENSMUSG00000023944

DomainStartEndE-ValueType
low complexity region 3 13 N/A INTRINSIC
HATPase_c 35 189 3.82e-10 SMART
Pfam:HSP90 191 719 5.4e-246 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000024742
SMART Domains Protein: ENSMUSP00000024742
Gene: ENSMUSG00000023947

DomainStartEndE-ValueType
low complexity region 36 48 N/A INTRINSIC
low complexity region 93 110 N/A INTRINSIC
ANK 122 152 1.14e2 SMART
ANK 157 187 2.15e0 SMART
ANK 190 219 6.81e-3 SMART
ANK 233 262 5.09e-2 SMART
ANK 267 296 1.12e-3 SMART
ANK 300 329 1e0 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000041353
AA Change: E18G

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000037834
Gene: ENSMUSG00000037089
AA Change: E18G

DomainStartEndE-ValueType
Pfam:UAA 62 363 5.1e-79 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145205
Predicted Effect probably benign
Transcript: ENSMUST00000165127
SMART Domains Protein: ENSMUSP00000126239
Gene: ENSMUSG00000023944

DomainStartEndE-ValueType
low complexity region 3 13 N/A INTRINSIC
Pfam:HSP90 37 161 3.8e-60 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000166469
SMART Domains Protein: ENSMUSP00000127338
Gene: ENSMUSG00000023944

DomainStartEndE-ValueType
Pfam:HSP90 4 189 1.3e-92 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000223987
AA Change: E18G

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225226
Predicted Effect probably damaging
Transcript: ENSMUST00000226086
AA Change: E67G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000224905
AA Change: E67G

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224559
Predicted Effect unknown
Transcript: ENSMUST00000224341
AA Change: E10G
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Sulfotransferases (e.g., SULT4A1; MIM 608359) use an activated form of sulfate, 3-prime-phosphoadenosine 5-prime-phosphosulfate (PAPS), as a common sulfate donor for sulfation of glycoproteins, proteoglycans, and glycolipids in the endoplasmic reticulum and Golgi apparatus. SLC35B2 is located in the microsomal membrane and transports PAPS from the cytosol, where it is synthesized, into the Golgi lumen (Kamiyama et al., 2003 [PubMed 12716889]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610028H24Rik C A 10: 76,290,536 (GRCm39) probably benign Het
Acot10 G A 15: 20,665,868 (GRCm39) T291I probably benign Het
Adam34l T G 8: 44,080,125 (GRCm39) H33P possibly damaging Het
Atp13a3 A G 16: 30,157,439 (GRCm39) probably null Het
Atp2a1 C T 7: 126,049,399 (GRCm39) V548M possibly damaging Het
Bsn G A 9: 107,992,812 (GRCm39) S980L probably damaging Het
Ccdc158 A G 5: 92,797,865 (GRCm39) M425T probably damaging Het
Cdh23 A G 10: 60,147,143 (GRCm39) L2733S probably damaging Het
Chd3 C T 11: 69,251,874 (GRCm39) probably null Het
Cimap1d T C 10: 79,475,811 (GRCm39) N251S probably benign Het
Dock2 T C 11: 34,260,448 (GRCm39) probably benign Het
Elfn2 T C 15: 78,556,082 (GRCm39) K822E probably damaging Het
Eps15l1 G A 8: 73,112,240 (GRCm39) S764L probably benign Het
Etl4 C A 2: 20,806,348 (GRCm39) probably benign Het
Faap24 C A 7: 35,092,376 (GRCm39) K180N probably damaging Het
Fhod1 G A 8: 106,057,862 (GRCm39) R888W probably damaging Het
Fus T C 7: 127,581,009 (GRCm39) probably benign Het
Gm3453 T C 14: 5,976,168 (GRCm38) E201G possibly damaging Het
Gnpat G T 8: 125,597,644 (GRCm39) D69Y probably benign Het
Gpaa1 T A 15: 76,217,019 (GRCm39) probably benign Het
Gsta1 A T 9: 78,149,819 (GRCm39) K211* probably null Het
Lct G T 1: 128,227,948 (GRCm39) Q1182K probably damaging Het
Mroh1 T C 15: 76,311,836 (GRCm39) L523P probably damaging Het
Mrpl46 A G 7: 78,425,200 (GRCm39) probably benign Het
Mst1r G T 9: 107,785,403 (GRCm39) V354F possibly damaging Het
Myo15b A G 11: 115,772,127 (GRCm39) D299G probably damaging Het
Myo6 G A 9: 80,171,516 (GRCm39) V506I possibly damaging Het
Nadk A C 4: 155,671,933 (GRCm39) K271Q probably benign Het
Nbas A G 12: 13,412,542 (GRCm39) R954G probably benign Het
Nbr1 T A 11: 101,462,805 (GRCm39) probably null Het
Nup88 T C 11: 70,835,698 (GRCm39) D587G possibly damaging Het
Oas1a A T 5: 121,043,727 (GRCm39) F135Y probably damaging Het
Obscn A G 11: 58,885,339 (GRCm39) probably benign Het
Or4k42 T G 2: 111,320,465 (GRCm39) I13L probably benign Het
Parp14 G A 16: 35,678,903 (GRCm39) T355I probably benign Het
Pdgfd G T 9: 6,288,494 (GRCm39) L43F probably damaging Het
Pou5f2 T C 13: 78,173,237 (GRCm39) S60P probably benign Het
Prp2 A G 6: 132,576,788 (GRCm39) N25S unknown Het
Ptprq A T 10: 107,503,321 (GRCm39) F779Y probably benign Het
Rims2 C T 15: 39,398,334 (GRCm39) R1078C probably damaging Het
Rnf38 G T 4: 44,129,619 (GRCm39) S425* probably null Het
Rps21 T A 2: 179,899,840 (GRCm39) I59N probably damaging Het
Scn5a A T 9: 119,324,751 (GRCm39) F1359Y probably damaging Het
Slc37a2 A G 9: 37,166,611 (GRCm39) F15L probably benign Het
Snapc4 A C 2: 26,260,847 (GRCm39) N465K probably benign Het
Spata31f1a C T 4: 42,850,696 (GRCm39) E487K probably benign Het
Stxbp2 A T 8: 3,691,971 (GRCm39) I538F probably benign Het
Taco1 A G 11: 105,960,353 (GRCm39) N98S probably benign Het
Tcea3 T C 4: 135,985,299 (GRCm39) probably null Het
Thada T C 17: 84,751,456 (GRCm39) S507G probably benign Het
Tmem132b T A 5: 125,864,611 (GRCm39) C906S probably damaging Het
Trpm2 A T 10: 77,765,112 (GRCm39) I963N possibly damaging Het
Usp10 A G 8: 120,673,825 (GRCm39) T397A probably benign Het
Usp3 G A 9: 66,449,832 (GRCm39) R160* probably null Het
Utp15 T C 13: 98,394,460 (GRCm39) Y144C probably damaging Het
Xpc G A 6: 91,483,831 (GRCm39) R172W probably damaging Het
Other mutations in Slc35b2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00579:Slc35b2 APN 17 45,875,886 (GRCm39) missense probably damaging 0.99
IGL02749:Slc35b2 APN 17 45,877,493 (GRCm39) missense probably benign 0.14
IGL03382:Slc35b2 APN 17 45,877,571 (GRCm39) missense probably damaging 0.98
R0020:Slc35b2 UTSW 17 45,877,782 (GRCm39) missense probably damaging 1.00
R0368:Slc35b2 UTSW 17 45,877,389 (GRCm39) missense probably benign
R0743:Slc35b2 UTSW 17 45,877,751 (GRCm39) missense probably damaging 1.00
R0884:Slc35b2 UTSW 17 45,877,751 (GRCm39) missense probably damaging 1.00
R2293:Slc35b2 UTSW 17 45,878,067 (GRCm39) missense probably damaging 1.00
R3894:Slc35b2 UTSW 17 45,877,368 (GRCm39) missense probably benign 0.01
R4372:Slc35b2 UTSW 17 45,877,355 (GRCm39) missense probably benign 0.34
R4415:Slc35b2 UTSW 17 45,877,355 (GRCm39) missense probably benign 0.34
R4416:Slc35b2 UTSW 17 45,877,355 (GRCm39) missense probably benign 0.34
R4417:Slc35b2 UTSW 17 45,877,355 (GRCm39) missense probably benign 0.34
R5291:Slc35b2 UTSW 17 45,877,424 (GRCm39) missense probably damaging 1.00
R5314:Slc35b2 UTSW 17 45,877,424 (GRCm39) missense probably damaging 1.00
R5929:Slc35b2 UTSW 17 45,877,587 (GRCm39) missense probably benign 0.35
R6178:Slc35b2 UTSW 17 45,877,302 (GRCm39) missense probably benign 0.10
R7217:Slc35b2 UTSW 17 45,875,955 (GRCm39) missense probably benign 0.19
R7561:Slc35b2 UTSW 17 45,877,727 (GRCm39) missense probably damaging 1.00
R8823:Slc35b2 UTSW 17 45,877,894 (GRCm39) missense probably damaging 1.00
R8956:Slc35b2 UTSW 17 45,877,673 (GRCm39) missense probably damaging 0.98
R9401:Slc35b2 UTSW 17 45,877,910 (GRCm39) missense probably benign 0.00
Posted On 2015-12-18