Incidental Mutation 'IGL00557:Sult2a4'
ID5328
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sult2a4
Ensembl Gene ENSMUSG00000074377
Gene Namesulfotransferase family 2A, dehydroepiandrosterone (DHEA)-preferring, member 4
SynonymsGm5584
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.072) question?
Stock #IGL00557
Quality Score
Status
Chromosome7
Chromosomal Location13909676-13989607 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 13984945 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 124 (D124E)
Ref Sequence ENSEMBL: ENSMUSP00000130490 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108520] [ENSMUST00000165167]
Predicted Effect probably damaging
Transcript: ENSMUST00000108520
AA Change: D125E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104160
Gene: ENSMUSG00000074377
AA Change: D125E

DomainStartEndE-ValueType
Pfam:Sulfotransfer_3 5 205 1.5e-10 PFAM
Pfam:Sulfotransfer_1 34 278 1.2e-82 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000165167
AA Change: D124E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130490
Gene: ENSMUSG00000074377
AA Change: D124E

DomainStartEndE-ValueType
Pfam:Sulfotransfer_1 33 277 1.3e-82 PFAM
Coding Region Coverage
Validation Efficiency
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932431P20Rik A G 7: 29,535,802 noncoding transcript Het
Agpat3 A T 10: 78,273,682 probably benign Het
Arhgap35 T C 7: 16,564,415 T242A probably benign Het
Asb15 C A 6: 24,558,650 R55S probably benign Het
Brca2 C T 5: 150,560,538 R2941W probably benign Het
Chrng T C 1: 87,206,747 V135A probably damaging Het
Corin G T 5: 72,304,888 H859Q probably damaging Het
Cul7 A G 17: 46,652,508 E208G probably damaging Het
Dnah6 T C 6: 73,195,620 N285S possibly damaging Het
Ell2 T A 13: 75,756,290 I166N probably damaging Het
Fsip2 A G 2: 82,991,313 R5797G possibly damaging Het
Galntl6 T C 8: 58,911,417 I20V possibly damaging Het
Glra2 A G X: 165,289,637 F78L possibly damaging Het
Gm12258 A G 11: 58,856,070 D51G probably benign Het
Gsta2 T A 9: 78,331,243 K185* probably null Het
Hmgcr C T 13: 96,659,278 D294N probably benign Het
Iglv2 A G 16: 19,260,797 probably benign Het
Myo10 T A 15: 25,776,380 L63H probably damaging Het
P2ry10b T C X: 107,171,637 V201A probably benign Het
Psmb2 A G 4: 126,677,849 probably null Het
Samd4 T A 14: 47,052,898 L154H probably damaging Het
Trav9-1 A T 14: 53,488,358 Y43F probably damaging Het
Trpv2 A G 11: 62,592,855 N506S probably damaging Het
Ube3c T C 5: 29,619,229 S474P probably damaging Het
Zfp942 A T 17: 21,929,061 C196S probably benign Het
Other mutations in Sult2a4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00835:Sult2a4 APN 7 13909789 missense probably benign 0.01
IGL02078:Sult2a4 APN 7 13989544 missense probably benign 0.02
IGL02409:Sult2a4 APN 7 13984919 nonsense probably null
IGL02970:Sult2a4 APN 7 13909906 splice site probably benign
IGL03201:Sult2a4 APN 7 13931767 missense probably damaging 0.97
R0827:Sult2a4 UTSW 7 13984961 missense probably benign 0.03
R1484:Sult2a4 UTSW 7 13909801 missense probably benign
R1523:Sult2a4 UTSW 7 13909860 nonsense probably null
R1613:Sult2a4 UTSW 7 13989495 missense probably damaging 0.98
R2127:Sult2a4 UTSW 7 13915260 missense probably damaging 0.99
R2372:Sult2a4 UTSW 7 13915300 missense probably benign 0.15
R3161:Sult2a4 UTSW 7 13989471 missense probably benign 0.17
R5181:Sult2a4 UTSW 7 13988391 missense probably benign 0.04
R7124:Sult2a4 UTSW 7 13988395 nonsense probably null
R7983:Sult2a4 UTSW 7 13915227 missense probably damaging 1.00
R8214:Sult2a4 UTSW 7 13989476 missense probably benign 0.10
X0028:Sult2a4 UTSW 7 13988241 missense probably damaging 1.00
Posted On2012-04-20