Incidental Mutation 'R4713:Sult2a8'
ID 353366
Institutional Source Beutler Lab
Gene Symbol Sult2a8
Ensembl Gene ENSMUSG00000030378
Gene Name sulfotransferase family 2A, dehydroepiandrosterone (DHEA)-preferring, member 8
Synonyms 2810007J24Rik, mL-STL
MMRRC Submission 041601-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # R4713 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 14144611-14180694 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 14159402 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 72 (N72K)
Ref Sequence ENSEMBL: ENSMUSP00000147301 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063509] [ENSMUST00000125941] [ENSMUST00000168252] [ENSMUST00000209425] [ENSMUST00000209972] [ENSMUST00000210396] [ENSMUST00000211800]
AlphaFold Q8BGL3
Predicted Effect probably benign
Transcript: ENSMUST00000063509
AA Change: N72K

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000066897
Gene: ENSMUSG00000030378
AA Change: N72K

DomainStartEndE-ValueType
Pfam:Sulfotransfer_1 34 275 1.6e-73 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000125941
AA Change: N72K

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000116469
Gene: ENSMUSG00000030378
AA Change: N72K

DomainStartEndE-ValueType
Pfam:Sulfotransfer_1 34 189 4e-47 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000168252
AA Change: N72K

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000128428
Gene: ENSMUSG00000030378
AA Change: N72K

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
AA Change: N72K

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
Predicted Effect probably benign
Transcript: ENSMUST00000209972
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210366
Predicted Effect probably benign
Transcript: ENSMUST00000210396
AA Change: N72K

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
Predicted Effect probably benign
Transcript: ENSMUST00000211800
AA Change: N72K

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 94.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 G T 1: 25,586,613 (GRCm39) T360K probably damaging Het
AW551984 T C 9: 39,508,449 (GRCm39) K356E probably benign Het
Bpifb2 T A 2: 153,723,113 (GRCm39) V123E probably damaging Het
Cacna1a T G 8: 85,276,143 (GRCm39) F532V probably damaging Het
Cct8 C A 16: 87,284,576 (GRCm39) E204* probably null Het
Cd163 T A 6: 124,294,577 (GRCm39) probably null Het
Cep152 C A 2: 125,429,868 (GRCm39) A685S possibly damaging Het
Chdh A G 14: 29,758,798 (GRCm39) D581G probably benign Het
Cnpy3 A C 17: 47,058,391 (GRCm39) Y77* probably null Het
Col5a3 T C 9: 20,704,870 (GRCm39) E762G unknown Het
Creb3 A G 4: 43,563,247 (GRCm39) T115A probably benign Het
Dlat G T 9: 50,555,781 (GRCm39) A412E probably benign Het
Dnah2 T C 11: 69,367,514 (GRCm39) N1789S probably damaging Het
Dzank1 C T 2: 144,333,724 (GRCm39) E370K probably benign Het
Eif3m A T 2: 104,837,184 (GRCm39) probably null Het
Gimap8 A T 6: 48,635,920 (GRCm39) M562L probably benign Het
Gprc6a T A 10: 51,507,553 (GRCm39) probably benign Het
Gsr T G 8: 34,170,347 (GRCm39) probably null Het
Gstcd A G 3: 132,688,860 (GRCm39) V630A probably damaging Het
Hip1r T C 5: 124,128,043 (GRCm39) I116T probably benign Het
Hivep3 A G 4: 119,989,000 (GRCm39) E1817G probably damaging Het
Inpp5f A C 7: 128,265,449 (GRCm39) T135P probably damaging Het
Ism2 A G 12: 87,331,801 (GRCm39) silent Het
Itga11 A G 9: 62,673,070 (GRCm39) D784G probably damaging Het
Itpr2 A G 6: 146,274,671 (GRCm39) F837S probably damaging Het
Itpr2 T C 6: 146,298,456 (GRCm39) E10G probably damaging Het
Knl1 A T 2: 118,899,618 (GRCm39) K440* probably null Het
Lonp2 T C 8: 87,439,943 (GRCm39) S648P probably damaging Het
Lrba T C 3: 86,267,175 (GRCm39) S1622P probably benign Het
Lrp2 G T 2: 69,318,310 (GRCm39) A2047D probably damaging Het
Mcm3 G A 1: 20,873,801 (GRCm39) T773I probably benign Het
Mki67 A G 7: 135,297,198 (GRCm39) V2612A probably benign Het
Mnx1 C A 5: 29,683,129 (GRCm39) G49W probably damaging Het
Muc5b T A 7: 141,402,816 (GRCm39) Y673* probably null Het
Myo15a A G 11: 60,370,756 (GRCm39) H1172R probably benign Het
Myo1g T C 11: 6,466,080 (GRCm39) K363R probably null Het
Ncoa4 T A 14: 31,898,598 (GRCm39) C473S probably benign Het
Nefh T C 11: 4,889,656 (GRCm39) T988A unknown Het
Nwd2 T A 5: 63,961,803 (GRCm39) D462E probably benign Het
Or2av9 T C 11: 58,380,913 (GRCm39) T223A probably benign Het
Pira13 G T 7: 3,825,680 (GRCm39) Y396* probably null Het
Plec T C 15: 76,065,267 (GRCm39) E1466G unknown Het
Prl3d2 G T 13: 27,306,379 (GRCm39) M35I probably benign Het
Reln T A 5: 22,357,461 (GRCm39) I202F probably benign Het
Rhot1 T A 11: 80,116,428 (GRCm39) D78E probably benign Het
Rsph3b T C 17: 7,172,528 (GRCm39) probably null Het
Scn10a C T 9: 119,438,717 (GRCm39) M1717I probably damaging Het
Sema6a T A 18: 47,382,363 (GRCm39) H728L possibly damaging Het
Slc26a3 G T 12: 31,507,079 (GRCm39) A345S possibly damaging Het
Slc35d2 A G 13: 64,247,097 (GRCm39) V261A possibly damaging Het
Slc49a3 T C 5: 108,589,945 (GRCm39) T486A probably damaging Het
Ssmem1 A G 6: 30,519,513 (GRCm39) D66G probably damaging Het
Tbx10 T C 19: 4,046,921 (GRCm39) L108P probably damaging Het
Tex14 T C 11: 87,427,691 (GRCm39) S48P probably damaging Het
Tmie A G 9: 110,696,596 (GRCm39) L95P probably damaging Het
Tom1l2 C G 11: 60,161,259 (GRCm39) R84P probably damaging Het
Trpm3 T A 19: 22,866,799 (GRCm39) D543E possibly damaging Het
Vipr2 A C 12: 116,043,751 (GRCm39) R49S probably benign Het
Vps8 A T 16: 21,261,189 (GRCm39) S110C probably damaging Het
Zfp791 T A 8: 85,837,597 (GRCm39) N89I probably damaging Het
Other mutations in Sult2a8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01558:Sult2a8 APN 7 14,159,377 (GRCm39) nonsense probably null
IGL01904:Sult2a8 APN 7 14,159,382 (GRCm39) missense probably damaging 1.00
IGL02060:Sult2a8 APN 7 14,159,326 (GRCm39) missense probably damaging 1.00
IGL02532:Sult2a8 APN 7 14,150,183 (GRCm39) missense probably benign 0.01
IGL02663:Sult2a8 APN 7 14,159,368 (GRCm39) missense possibly damaging 0.52
IGL02803:Sult2a8 APN 7 14,145,630 (GRCm39) utr 3 prime probably benign
R1070:Sult2a8 UTSW 7 14,147,698 (GRCm39) missense probably damaging 0.99
R1251:Sult2a8 UTSW 7 14,159,350 (GRCm39) nonsense probably null
R1465:Sult2a8 UTSW 7 14,150,208 (GRCm39) missense probably benign 0.00
R1465:Sult2a8 UTSW 7 14,150,208 (GRCm39) missense probably benign 0.00
R1799:Sult2a8 UTSW 7 14,157,451 (GRCm39) missense probably damaging 1.00
R2196:Sult2a8 UTSW 7 14,161,778 (GRCm39) missense probably benign 0.00
R4233:Sult2a8 UTSW 7 14,147,608 (GRCm39) missense probably benign 0.01
R4964:Sult2a8 UTSW 7 14,159,457 (GRCm39) missense probably damaging 0.98
R5114:Sult2a8 UTSW 7 14,147,584 (GRCm39) missense probably benign 0.01
R5330:Sult2a8 UTSW 7 14,147,679 (GRCm39) missense possibly damaging 0.53
R5439:Sult2a8 UTSW 7 14,159,439 (GRCm39) missense probably damaging 1.00
R5662:Sult2a8 UTSW 7 14,161,765 (GRCm39) missense probably benign 0.13
R7353:Sult2a8 UTSW 7 14,147,640 (GRCm39) missense possibly damaging 0.95
R7366:Sult2a8 UTSW 7 14,150,254 (GRCm39) splice site probably null
R7832:Sult2a8 UTSW 7 14,147,596 (GRCm39) missense probably benign 0.02
R9499:Sult2a8 UTSW 7 14,157,487 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CATAAGTATTGGCCAAACTGATCTG -3'
(R):5'- TGCCTACATTGAGAGTTCCATG -3'

Sequencing Primer
(F):5'- GGCCAAACTGATCTGGATACTTCAG -3'
(R):5'- GCCTACATTGAGAGTTCCATGAAAAC -3'
Posted On 2015-10-21