Incidental Mutation 'IGL01938:Sult1c2'
ID180740
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sult1c2
Ensembl Gene ENSMUSG00000023122
Gene Namesulfotransferase family, cytosolic, 1C, member 2
Synonyms1810008N17Rik, ST1C1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.062) question?
Stock #IGL01938
Quality Score
Status
Chromosome17
Chromosomal Location53829637-53846339 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 53831926 bp
ZygosityHeterozygous
Amino Acid Change Valine to Methionine at position 208 (V208M)
Ref Sequence ENSEMBL: ENSMUSP00000023886 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023886]
Predicted Effect probably damaging
Transcript: ENSMUST00000023886
AA Change: V208M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023886
Gene: ENSMUSG00000023122
AA Change: V208M

DomainStartEndE-ValueType
Pfam:Sulfotransfer_1 39 289 4.8e-96 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. This gene encodes a protein that belongs to the SULT1 subfamily, responsible for transferring a sulfo moiety from PAPS to phenol-containing compounds. Two alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310003L06Rik C T 5: 87,971,708 T108I probably damaging Het
Adam34 A G 8: 43,651,016 Y531H probably damaging Het
Arhgef10 T A 8: 14,991,062 N1077K probably benign Het
BC034090 G T 1: 155,232,592 probably null Het
C87499 A G 4: 88,629,363 S24P possibly damaging Het
Cachd1 A G 4: 100,974,128 I706V possibly damaging Het
Cebpz A T 17: 78,934,961 C421* probably null Het
Celsr3 T C 9: 108,828,415 V699A probably benign Het
Col5a1 A G 2: 27,996,873 N935S unknown Het
Dnah1 C T 14: 31,283,887 V2312I probably benign Het
Ebf3 T C 7: 137,309,318 T156A probably damaging Het
Ern1 A G 11: 106,411,657 V457A probably benign Het
Fam129a A G 1: 151,689,614 T232A probably benign Het
Flii T C 11: 60,715,116 Y1177C probably damaging Het
Fryl T A 5: 73,122,364 K197M probably damaging Het
Glb1l3 A G 9: 26,818,529 F515S probably damaging Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Kif26b T C 1: 178,916,038 I1233T probably damaging Het
Kptn A G 7: 16,124,789 Y286C probably damaging Het
Lyst A G 13: 13,637,424 N807S possibly damaging Het
Mki67 C T 7: 135,694,330 V2992M probably benign Het
Myocd A G 11: 65,187,088 L627P probably damaging Het
Neto2 A G 8: 85,690,855 I40T probably benign Het
Nipsnap1 C T 11: 4,893,134 H269Y probably benign Het
Nlrp4g G A 9: 124,349,068 noncoding transcript Het
Nup188 A T 2: 30,329,359 R862S probably benign Het
Olfr1 T A 11: 73,395,645 I126F probably damaging Het
Olfr1253 G T 2: 89,752,348 A160D probably benign Het
Olfr820 T A 10: 130,018,112 Y250* probably null Het
Pde4c A T 8: 70,749,378 K549N probably damaging Het
Pkd1l3 A G 8: 109,635,301 T992A probably benign Het
Smyd2 A G 1: 189,888,882 V213A probably benign Het
Ush2a T C 1: 188,797,845 L3277P probably damaging Het
Wdr72 T C 9: 74,148,774 V304A probably benign Het
Xrra1 T C 7: 99,879,469 probably null Het
Zscan29 C T 2: 121,166,209 A344T probably benign Het
Other mutations in Sult1c2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:Sult1c2 APN 17 53833119 nonsense probably null
IGL03130:Sult1c2 APN 17 53830071 missense probably benign 0.38
R0659:Sult1c2 UTSW 17 53831778 missense probably damaging 1.00
R1570:Sult1c2 UTSW 17 53836963 missense probably benign 0.00
R1574:Sult1c2 UTSW 17 53836899 critical splice donor site probably null
R1574:Sult1c2 UTSW 17 53836899 critical splice donor site probably null
R2232:Sult1c2 UTSW 17 53831820 missense probably benign 0.01
R2315:Sult1c2 UTSW 17 53838493 missense possibly damaging 0.90
R4677:Sult1c2 UTSW 17 53830109 missense possibly damaging 0.80
R4896:Sult1c2 UTSW 17 53832135 missense probably benign 0.31
R5396:Sult1c2 UTSW 17 53836911 missense possibly damaging 0.95
R5941:Sult1c2 UTSW 17 53831898 missense probably benign 0.01
R7137:Sult1c2 UTSW 17 53838394 missense probably damaging 0.97
R8025:Sult1c2 UTSW 17 53831809 missense probably benign
Posted On2014-05-07