Incidental Mutation 'R6956:Sult2a6'
ID 541457
Institutional Source Beutler Lab
Gene Symbol Sult2a6
Ensembl Gene ENSMUSG00000070810
Gene Name sulfotransferase family 2A, dehydroepiandrosterone (DHEA)-preferring, member 6
Synonyms Gm6957
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # R6956 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 14222403-14254870 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 14254823 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 4 (D4V)
Ref Sequence ENSEMBL: ENSMUSP00000138842 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076576] [ENSMUST00000184731]
AlphaFold B2RVI8
Predicted Effect probably benign
Transcript: ENSMUST00000076576
AA Change: D4V

PolyPhen 2 Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000075884
Gene: ENSMUSG00000070810
AA Change: D4V

DomainStartEndE-ValueType
Pfam:Sulfotransfer_1 34 278 1.2e-81 PFAM
Pfam:Sulfotransfer_3 35 205 2.2e-11 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000184731
AA Change: D4V

PolyPhen 2 Score 0.501 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000138842
Gene: ENSMUSG00000070810
AA Change: D4V

DomainStartEndE-ValueType
Pfam:Sulfotransfer_1 34 116 4.7e-20 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.7%
Validation Efficiency 100% (43/43)
MGI Phenotype FUNCTION: This is one of seven sulfotransferase family 2A genes in a chromosome 7 A1 cluster. [provided by RefSeq, May 2010]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921530L21Rik T A 14: 95,882,433 W209R probably damaging Het
Aars G A 8: 111,055,130 V945M probably benign Het
Amotl2 A G 9: 102,724,768 T371A probably damaging Het
Bmpr1a A G 14: 34,441,175 I86T possibly damaging Het
C9 A T 15: 6,445,464 M35L probably benign Het
Cc2d1a G T 8: 84,135,899 P661T probably damaging Het
Dcdc2a T A 13: 25,119,366 S293R probably benign Het
Dchs2 T A 3: 83,353,926 N2500K probably benign Het
Dicer1 A G 12: 104,731,023 S92P probably damaging Het
Dnah7a T A 1: 53,577,287 I1172F probably benign Het
Dnajc6 A G 4: 101,614,273 S364G probably damaging Het
Dpp6 A T 5: 27,598,821 N255I probably damaging Het
Eif2ak4 T C 2: 118,422,267 I440T probably damaging Het
Fam155a T A 8: 9,770,744 Q92L probably benign Het
Fam184b T C 5: 45,530,757 T937A probably damaging Het
Fam229b T A 10: 39,133,847 probably null Het
Gbp11 A G 5: 105,328,375 probably null Het
Gipc2 A G 3: 152,094,248 F282L probably benign Het
Gm4858 T C 3: 93,073,972 V25A possibly damaging Het
Gpt2 G A 8: 85,518,052 E325K probably benign Het
H2-T3 T A 17: 36,189,371 Y144F probably damaging Het
Kel T G 6: 41,687,973 D7A probably damaging Het
Lrrc7 A G 3: 158,289,031 V166A probably benign Het
Mapt T C 11: 104,318,255 probably null Het
March3 A G 18: 56,775,981 V244A probably benign Het
Mboat1 T C 13: 30,238,076 V396A possibly damaging Het
Mphosph9 T C 5: 124,297,558 D604G probably damaging Het
Muc16 T C 9: 18,645,026 T3324A unknown Het
Nat10 T C 2: 103,734,412 I495V probably benign Het
Olfr784 A T 10: 129,388,297 K221N probably benign Het
Pfkfb2 T C 1: 130,707,600 N75D probably damaging Het
Psmd3 T A 11: 98,695,551 L515Q probably damaging Het
Rpgrip1l A C 8: 91,286,313 probably null Het
Scube1 T C 15: 83,721,876 Y65C probably damaging Het
Slc12a4 A G 8: 105,953,852 F211L probably damaging Het
Socs7 T C 11: 97,377,023 S327P probably benign Het
Spef2 A T 15: 9,684,935 D591E probably damaging Het
Tdrd9 A G 12: 112,036,354 probably benign Het
Tgm4 G T 9: 123,064,703 M155I possibly damaging Het
Togaram2 T C 17: 71,729,188 V891A probably benign Het
Usp1 A G 4: 98,931,006 E235G probably damaging Het
Usp2 T A 9: 44,092,756 V533E probably damaging Het
Vcan T A 13: 89,689,431 I2665F probably damaging Het
Vmn2r31 G A 7: 7,394,506 S251L probably benign Het
Vmn2r84 C A 10: 130,389,267 C458F probably damaging Het
Other mutations in Sult2a6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00959:Sult2a6 APN 7 14254709 missense probably damaging 1.00
IGL01977:Sult2a6 APN 7 14253486 missense probably benign 0.00
IGL02524:Sult2a6 APN 7 14236686 missense possibly damaging 0.80
IGL03209:Sult2a6 APN 7 14225972 missense probably benign 0.36
IGL03379:Sult2a6 APN 7 14222586 missense probably benign 0.01
R1840:Sult2a6 UTSW 7 14254829 missense probably benign 0.03
R1893:Sult2a6 UTSW 7 14225889 missense probably benign 0.00
R2037:Sult2a6 UTSW 7 14254709 missense probably damaging 0.99
R2331:Sult2a6 UTSW 7 14225870 missense possibly damaging 0.94
R3871:Sult2a6 UTSW 7 14254776 missense probably benign 0.16
R3921:Sult2a6 UTSW 7 14254743 missense possibly damaging 0.83
R5599:Sult2a6 UTSW 7 14254704 nonsense probably null
R5761:Sult2a6 UTSW 7 14250358 missense probably damaging 0.97
R6744:Sult2a6 UTSW 7 14222545 missense probably damaging 1.00
R7152:Sult2a6 UTSW 7 14222520 missense probably benign 0.36
R7869:Sult2a6 UTSW 7 14254812 missense not run
R7990:Sult2a6 UTSW 7 14225870 missense possibly damaging 0.94
R8347:Sult2a6 UTSW 7 14225958 missense probably benign 0.15
R8369:Sult2a6 UTSW 7 14253402 critical splice donor site probably null
R8391:Sult2a6 UTSW 7 14222591 critical splice acceptor site probably null
R8414:Sult2a6 UTSW 7 14250432 missense probably damaging 1.00
R9317:Sult2a6 UTSW 7 14236690 nonsense probably null
R9654:Sult2a6 UTSW 7 14222520 missense probably benign 0.06
Z1088:Sult2a6 UTSW 7 14225894 missense probably benign
Predicted Primers PCR Primer
(F):5'- TCCCACATAGTTCAGAGGTCTTTC -3'
(R):5'- GCTCACAAATGCTGCAGAATG -3'

Sequencing Primer
(F):5'- GGTCTTTCTTTGAGTGGAATAAACAC -3'
(R):5'- CTCAATACAGTAACCGTTGACTATGG -3'
Posted On 2018-11-28