Incidental Mutation 'IGL03130:Sult1c2'
ID410296
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: 0.049) question?
Stock #IGL03130
Quality Score
Status
Chromosome17
Chromosomal Location53829637-53846339 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 53830071 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 274 (N274K)
Ref Sequence ENSEMBL: ENSMUSP00000023886 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023886]
Predicted Effect probably benign
Transcript: ENSMUST00000023886
AA Change: N274K

PolyPhen 2 Score 0.381 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000023886
Gene: ENSMUSG00000023122
AA Change: N274K

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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agtpbp1 T C 13: 59,474,589 E941G possibly damaging Het
AI314180 A T 4: 58,800,288 C1806S probably benign Het
Akap11 A T 14: 78,510,368 Y1526* probably null Het
Brd1 T C 15: 88,688,374 I1165V probably benign Het
Btbd11 G T 10: 85,388,483 probably null Het
Cdan1 T C 2: 120,727,912 D473G possibly damaging Het
Clstn3 G A 6: 124,459,263 L176F probably damaging Het
Ctif T C 18: 75,521,618 N279S probably benign Het
Dpy19l3 A G 7: 35,752,672 S16P probably benign Het
Fam151b T C 13: 92,450,193 Y244C probably benign Het
Gbf1 T C 19: 46,267,348 M750T possibly damaging Het
Gm11564 T A 11: 99,815,053 T184S unknown Het
Gnptab A G 10: 88,436,371 K958E possibly damaging Het
Hibch T C 1: 52,885,151 S162P possibly damaging Het
Itpr1 T C 6: 108,523,401 S2651P probably benign Het
Lyrm1 A G 7: 119,914,180 D56G probably damaging Het
Manba T C 3: 135,551,159 Y528H probably damaging Het
Npas2 A C 1: 39,313,028 E186D probably damaging Het
Olfr1314 A T 2: 112,091,821 D293E probably benign Het
Olfr371 A T 8: 85,230,629 I45F possibly damaging Het
Olfr867 C A 9: 20,055,372 L30F probably benign Het
Oraov1 A G 7: 144,916,460 E42G probably damaging Het
Pcdhb6 T A 18: 37,335,587 Y520* probably null Het
Plekhm1 C T 11: 103,377,381 R588H probably benign Het
Psg23 A T 7: 18,610,416 H371Q probably benign Het
Ptpn12 T C 5: 21,002,612 probably benign Het
Rela T C 19: 5,639,881 C120R probably damaging Het
Rps6kc1 T A 1: 190,799,811 I665F probably damaging Het
Spg21 A G 9: 65,473,708 Q99R probably benign Het
St14 A G 9: 31,097,071 probably null Het
Syk T C 13: 52,622,732 V256A probably benign Het
Tcte1 A G 17: 45,533,296 D66G probably damaging Het
Tgm4 C T 9: 123,056,515 T374M probably damaging Het
Tns4 T C 11: 99,068,269 H668R probably damaging Het
Tsn C T 1: 118,305,269 A102T possibly damaging Het
Uvssa T A 5: 33,391,845 S350T possibly damaging Het
Vmn1r3 T A 4: 3,185,214 Y31F possibly damaging Het
Vmn2r114 A T 17: 23,296,996 probably benign Het
Vmn2r27 T C 6: 124,192,317 D618G possibly damaging Het
Vmn2r91 T A 17: 18,110,111 probably benign Het
Vti1a T C 19: 55,391,847 Y143H probably damaging Het
Zfand4 T A 6: 116,273,659 Y17N probably damaging Het
Zfp729a T C 13: 67,619,642 probably null Het
Zfp827 A G 8: 79,060,957 T251A probably damaging Het
Other mutations in Sult1c2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:Sult1c2 APN 17 53833119 nonsense probably null
IGL01938:Sult1c2 APN 17 53831926 missense probably damaging 1.00
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 On2016-08-02