Incidental Mutation 'R4509:Sult2a7'
ID331121
Institutional Source Beutler Lab
Gene Symbol Sult2a7
Ensembl Gene ENSMUSG00000094156
Gene Namesulfotransferase family 2A, dehydroepiandrosterone (DHEA)-preferring, member 7
SynonymsGm7231
MMRRC Submission 041758-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.066) question?
Stock #R4509 (G1)
Quality Score225
Status Validated
Chromosome7
Chromosomal Location14465051-14494230 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 14470161 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 226 (I226F)
Ref Sequence ENSEMBL: ENSMUSP00000147494 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108524] [ENSMUST00000209744] [ENSMUST00000210034] [ENSMUST00000211740]
Predicted Effect probably damaging
Transcript: ENSMUST00000108524
AA Change: I211F

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000104164
Gene: ENSMUSG00000094156
AA Change: I211F

DomainStartEndE-ValueType
Pfam:Sulfotransfer_1 18 176 2.7e-48 PFAM
Pfam:Sulfotransfer_1 198 291 4.2e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000209744
Predicted Effect probably benign
Transcript: ENSMUST00000210034
Predicted Effect probably damaging
Transcript: ENSMUST00000211740
AA Change: I226F

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Meta Mutation Damage Score 0.7382 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 98% (48/49)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b A G 11: 109,966,755 L657P probably damaging Het
Adam4 A T 12: 81,421,747 C33* probably null Het
Adam6b T C 12: 113,490,352 V263A probably benign Het
Arid1a A C 4: 133,695,699 probably benign Het
Ascc3 T C 10: 50,842,243 F2011L probably benign Het
Atp5j T C 16: 84,827,974 D104G probably benign Het
Cacna1d T C 14: 30,096,971 Y1209C probably damaging Het
Camta2 G A 11: 70,681,018 T484M probably benign Het
Ccdc178 T C 18: 22,067,392 N452D possibly damaging Het
Col1a2 G A 6: 4,518,822 probably benign Het
Cttnbp2nl T C 3: 105,032,747 N2S probably damaging Het
Gm15032 A T X: 142,622,626 noncoding transcript Het
Gzmg G A 14: 56,156,753 P228L probably damaging Het
Hao1 T A 2: 134,523,044 D221V probably damaging Het
Ints9 A G 14: 65,028,932 D411G possibly damaging Het
Lnx1 C T 5: 74,620,192 D382N probably damaging Het
Mdn1 C T 4: 32,715,883 R2022C probably damaging Het
Mipep T C 14: 60,827,321 Y375H probably damaging Het
Muc6 G A 7: 141,638,400 S2120F possibly damaging Het
Pah T C 10: 87,576,215 probably null Het
Perm1 T C 4: 156,217,586 S196P probably benign Het
Pik3c2g A T 6: 139,720,006 T18S probably benign Het
Polq G A 16: 37,048,563 R765H probably damaging Het
Ppp3cb A T 14: 20,515,501 probably benign Het
Psd4 T C 2: 24,396,335 S316P probably benign Het
Ptpn18 T C 1: 34,462,742 V45A possibly damaging Het
Rasgrp3 A G 17: 75,500,673 M242V probably damaging Het
Repin1 T C 6: 48,596,526 C130R possibly damaging Het
Rrp1 G T 10: 78,412,822 T44K possibly damaging Het
Slc44a5 A G 3: 154,234,073 Y88C probably damaging Het
Socs1 C T 16: 10,784,354 R173Q probably benign Het
Speer3 T G 5: 13,796,354 N229K possibly damaging Het
Tdp1 G A 12: 99,955,065 probably benign Het
Tnfrsf21 G A 17: 43,085,388 S521N probably benign Het
Tnip1 T A 11: 54,926,790 S244C probably benign Het
Ubqln3 G A 7: 104,141,444 L480F probably damaging Het
Vps13d G A 4: 145,062,602 P3817L probably damaging Het
Xpr1 A G 1: 155,290,161 probably benign Het
Zfhx3 A G 8: 108,793,779 E511G probably benign Het
Zfp560 C T 9: 20,348,723 C281Y probably damaging Het
Other mutations in Sult2a7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01999:Sult2a7 APN 7 14491723 missense probably benign 0.00
R0052:Sult2a7 UTSW 7 14465208 missense probably damaging 1.00
R1547:Sult2a7 UTSW 7 14477122 critical splice acceptor site probably null
R2012:Sult2a7 UTSW 7 14473397 intron probably benign
R2255:Sult2a7 UTSW 7 14491893 missense probably damaging 1.00
R3980:Sult2a7 UTSW 7 14473409 intron probably benign
R6147:Sult2a7 UTSW 7 14465163 missense probably damaging 0.99
R7186:Sult2a7 UTSW 7 14470053 missense not run
R7356:Sult2a7 UTSW 7 14477106 missense probably damaging 1.00
R7899:Sult2a7 UTSW 7 14465209 missense probably damaging 1.00
R8181:Sult2a7 UTSW 7 14470173 missense probably benign 0.13
R8795:Sult2a7 UTSW 7 14490089 missense probably benign 0.13
R8853:Sult2a7 UTSW 7 14491716 critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- TGGCAGAATCCCTACACATG -3'
(R):5'- ACTAATGCTTCACATGTATCCTGC -3'

Sequencing Primer
(F):5'- TGGCAGAATCCCTACACATGATCTG -3'
(R):5'- ACATGTATCCTGCCCTCTCC -3'
Posted On2015-07-21