Incidental Mutation 'R5662:Sult2a8'
ID 444129
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 043305-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # R5662 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 14144611-14180694 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 14161765 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 27 (R27H)
Ref Sequence ENSEMBL: ENSMUSP00000128428 (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: R27H

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000066897
Gene: ENSMUSG00000030378
AA Change: R27H

DomainStartEndE-ValueType
Pfam:Sulfotransfer_1 34 275 1.6e-73 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000125941
AA Change: R27H

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000116469
Gene: ENSMUSG00000030378
AA Change: R27H

DomainStartEndE-ValueType
Pfam:Sulfotransfer_1 34 189 4e-47 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000168252
AA Change: R27H

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000128428
Gene: ENSMUSG00000030378
AA Change: R27H

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: R27H

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
Predicted Effect probably benign
Transcript: ENSMUST00000209972
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210366
Predicted Effect probably benign
Transcript: ENSMUST00000210396
AA Change: R27H

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect probably benign
Transcript: ENSMUST00000211800
AA Change: R27H

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan T A 7: 78,749,855 (GRCm39) V1542D possibly damaging Het
Acsm4 T G 7: 119,294,023 (GRCm39) N131K possibly damaging Het
Ankrd54 A G 15: 78,946,814 (GRCm39) S62P possibly damaging Het
Ccdc186 A G 19: 56,781,920 (GRCm39) I753T probably benign Het
Cers2 C T 3: 95,228,295 (GRCm39) R112C probably damaging Het
Col6a4 C G 9: 105,945,200 (GRCm39) R971S probably damaging Het
Ctsf T C 19: 4,906,606 (GRCm39) S178P probably damaging Het
Dennd4c C T 4: 86,713,525 (GRCm39) T492I probably benign Het
Dhx8 A G 11: 101,657,584 (GRCm39) K1212E possibly damaging Het
Dnah8 A G 17: 30,956,307 (GRCm39) T2096A probably damaging Het
Ephb4 A T 5: 137,370,457 (GRCm39) I886F probably damaging Het
Eprs1 T G 1: 185,126,622 (GRCm39) N519K possibly damaging Het
Fam3c T C 6: 22,355,061 (GRCm39) probably benign Het
Galnt17 G A 5: 131,114,844 (GRCm39) R219C probably damaging Het
Gm10645 A G 8: 83,892,486 (GRCm39) probably benign Het
Gpr132 G A 12: 112,816,416 (GRCm39) R137C probably damaging Het
Hydin T G 8: 111,307,341 (GRCm39) S3907A probably benign Het
Ighv1-49 A T 12: 115,019,027 (GRCm39) V56E probably damaging Het
Igtp A G 11: 58,097,105 (GRCm39) D92G probably damaging Het
Itga1 C T 13: 115,122,707 (GRCm39) V750I probably benign Het
Katnip A G 7: 125,441,875 (GRCm39) R595G probably benign Het
Kif3c T A 12: 3,417,031 (GRCm39) Y351N probably damaging Het
Klhdc1 T A 12: 69,329,939 (GRCm39) I356N probably benign Het
Lrrc34 T C 3: 30,685,473 (GRCm39) Y292C probably benign Het
Ly75 G A 2: 60,182,725 (GRCm39) T526M probably damaging Het
Mroh4 A T 15: 74,497,277 (GRCm39) D181E possibly damaging Het
Nutm1 T C 2: 112,079,645 (GRCm39) N757D probably benign Het
Or1e25 T C 11: 73,494,005 (GRCm39) F200L probably benign Het
Or1m1 A G 9: 18,666,896 (GRCm39) F12L probably damaging Het
Or6c215 T C 10: 129,638,176 (GRCm39) T73A possibly damaging Het
Or9s18 T C 13: 65,300,067 (GRCm39) F10L possibly damaging Het
Paxbp1 G A 16: 90,834,285 (GRCm39) T167M probably benign Het
Pnpla7 A G 2: 24,942,396 (GRCm39) D1238G probably damaging Het
Pom121l2 T C 13: 22,166,358 (GRCm39) S210P probably benign Het
Ripor3 T G 2: 167,835,476 (GRCm39) N165T probably benign Het
Serpine3 T G 14: 62,908,291 (GRCm39) S106R probably benign Het
Slc25a11 G A 11: 70,536,245 (GRCm39) R158* probably null Het
Slc26a6 G A 9: 108,736,538 (GRCm39) V506M possibly damaging Het
Slc45a2 A G 15: 11,022,169 (GRCm39) K304E probably benign Het
Slc4a4 C T 5: 89,176,103 (GRCm39) L25F probably damaging Het
Smarcb1 T C 10: 75,740,404 (GRCm39) N267S possibly damaging Het
Spink6 C A 18: 44,207,481 (GRCm39) Q24K possibly damaging Het
Srebf2 T C 15: 82,079,204 (GRCm39) S811P probably benign Het
Ssc4d A G 5: 135,989,748 (GRCm39) *587R probably null Het
Sun2 C T 15: 79,623,069 (GRCm39) A90T probably benign Het
Ubr7 T C 12: 102,734,526 (GRCm39) S267P probably benign Het
Wdr55 G A 18: 36,893,448 (GRCm39) V37M possibly damaging Het
Xdh C T 17: 74,248,110 (GRCm39) G45S probably damaging Het
Zfp638 T A 6: 83,920,111 (GRCm39) S570T 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
R4713:Sult2a8 UTSW 7 14,159,402 (GRCm39) missense probably benign 0.02
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
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'- TGAGTGAGTAAAGACACTGCCATAG -3'
(R):5'- AACACTGATCATTGTGTCCTCAC -3'

Sequencing Primer
(F):5'- GACACTGCCATAGTTCTGGAG -3'
(R):5'- GTGTCCTCACTATAAAATTGAGACTC -3'
Posted On 2016-11-09