Incidental Mutation 'IGL02532:Sult2a8'
ID297364
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sult2a8
Ensembl Gene ENSMUSG00000030378
Gene Namesulfotransferase family 2A, dehydroepiandrosterone (DHEA)-preferring, member 8
Synonyms2810007J24Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.130) question?
Stock #IGL02532
Quality Score
Status
Chromosome7
Chromosomal Location14410686-14446769 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 14416258 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Lysine at position 176 (R176K)
Ref Sequence ENSEMBL: ENSMUSP00000128428 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063509] [ENSMUST00000125941] [ENSMUST00000168252] [ENSMUST00000209425]
Predicted Effect probably benign
Transcript: ENSMUST00000063509
AA Change: R176K

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000066897
Gene: ENSMUSG00000030378
AA Change: R176K

DomainStartEndE-ValueType
Pfam:Sulfotransfer_1 34 275 1.6e-73 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000125941
AA Change: R176K

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000116469
Gene: ENSMUSG00000030378
AA Change: R176K

DomainStartEndE-ValueType
Pfam:Sulfotransfer_1 34 189 4e-47 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000168252
AA Change: R176K

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000128428
Gene: ENSMUSG00000030378
AA Change: R176K

DomainStartEndE-ValueType
Pfam:Sulfotransfer_1 34 275 1.6e-73 PFAM
Pfam:Sulfotransfer_3 36 205 6.3e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000209425
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123L14Rik A C 6: 96,164,790 S424R probably damaging Het
2200002D01Rik T C 7: 29,248,220 K15E possibly damaging Het
Abca2 A G 2: 25,435,136 T381A probably benign Het
Adcy1 T A 11: 7,144,737 N554K probably benign Het
Adcy5 A G 16: 35,272,083 I605V possibly damaging Het
Arhgap11a G T 2: 113,833,676 S754* probably null Het
Arhgef28 T A 13: 98,029,883 D319V probably damaging Het
Brca2 A G 5: 150,550,862 D2410G probably damaging Het
Carmil2 T A 8: 105,692,431 probably null Het
Catip A G 1: 74,364,616 N189S probably damaging Het
Cd177 T C 7: 24,745,249 K636E probably benign Het
Cep290 A G 10: 100,545,065 T145A probably benign Het
Cthrc1 T C 15: 39,077,165 probably benign Het
Efr3b C T 12: 3,983,391 V139I probably benign Het
Fas C A 19: 34,316,599 T118N probably damaging Het
Fgd3 G A 13: 49,285,761 A253V probably damaging Het
Fig4 A G 10: 41,285,281 probably benign Het
Fubp3 T C 2: 31,600,559 probably benign Het
Gria2 T A 3: 80,706,999 E578V probably damaging Het
Gtpbp1 T A 15: 79,720,077 V662E probably benign Het
Hbb-bt T C 7: 103,813,874 probably benign Het
Ighv6-5 T A 12: 114,416,804 D50V probably benign Het
Inpp5k T C 11: 75,633,184 probably benign Het
Kalrn T C 16: 34,360,846 N141D probably damaging Het
Kbtbd8 A G 6: 95,126,536 T389A probably benign Het
Klhl6 C A 16: 19,957,082 R242L possibly damaging Het
Kmt2b T C 7: 30,586,889 probably benign Het
Krt13 A T 11: 100,119,369 L262Q probably damaging Het
Lingo2 T C 4: 35,709,171 K270E possibly damaging Het
Mroh7 A G 4: 106,720,591 S297P probably benign Het
Ndufs1 G A 1: 63,170,139 R22C probably damaging Het
Nlrp5 T A 7: 23,409,973 S115T possibly damaging Het
Pfpl A T 19: 12,428,845 R153S probably damaging Het
Pkhd1 T A 1: 20,117,720 I3455F probably damaging Het
Psme1 T A 14: 55,581,138 Y223* probably null Het
R3hdm1 T C 1: 128,197,099 probably null Het
Rnf103 A G 6: 71,509,825 D480G probably benign Het
Rnf103 T G 6: 71,509,652 S422R probably damaging Het
Rps6ka2 T C 17: 7,255,966 V213A probably damaging Het
Sort1 G T 3: 108,325,720 K203N probably benign Het
Sugp1 A T 8: 70,059,819 K239N possibly damaging Het
Usp34 T A 11: 23,370,291 N888K probably damaging Het
Vmn1r4 A C 6: 56,957,150 H213P possibly damaging Het
Wdr45b G T 11: 121,328,813 T303K probably benign Het
Other mutations in Sult2a8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01558:Sult2a8 APN 7 14425452 nonsense probably null
IGL01904:Sult2a8 APN 7 14425457 missense probably damaging 1.00
IGL02060:Sult2a8 APN 7 14425401 missense probably damaging 1.00
IGL02663:Sult2a8 APN 7 14425443 missense possibly damaging 0.52
IGL02803:Sult2a8 APN 7 14411705 utr 3 prime probably benign
R1070:Sult2a8 UTSW 7 14413773 missense probably damaging 0.99
R1251:Sult2a8 UTSW 7 14425425 nonsense probably null
R1465:Sult2a8 UTSW 7 14416283 missense probably benign 0.00
R1465:Sult2a8 UTSW 7 14416283 missense probably benign 0.00
R1799:Sult2a8 UTSW 7 14423526 missense probably damaging 1.00
R2196:Sult2a8 UTSW 7 14427853 missense probably benign 0.00
R4233:Sult2a8 UTSW 7 14413683 missense probably benign 0.01
R4713:Sult2a8 UTSW 7 14425477 missense probably benign 0.02
R4964:Sult2a8 UTSW 7 14425532 missense probably damaging 0.98
R5114:Sult2a8 UTSW 7 14413659 missense probably benign 0.01
R5330:Sult2a8 UTSW 7 14413754 missense possibly damaging 0.53
R5439:Sult2a8 UTSW 7 14425514 missense probably damaging 1.00
R5662:Sult2a8 UTSW 7 14427840 missense probably benign 0.13
Posted On2015-04-16