Incidental Mutation 'IGL00913:Hs3st5'
ID28319
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hs3st5
Ensembl Gene ENSMUSG00000044499
Gene Nameheparan sulfate (glucosamine) 3-O-sulfotransferase 5
SynonymsLOC382362, D930005L05Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00913
Quality Score
Status
Chromosome10
Chromosomal Location36506814-36834397 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 36832850 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 127 (D127G)
Ref Sequence ENSEMBL: ENSMUSP00000129434 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058738] [ENSMUST00000167191] [ENSMUST00000168572]
Predicted Effect probably damaging
Transcript: ENSMUST00000058738
AA Change: D127G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000060229
Gene: ENSMUSG00000044499
AA Change: D127G

DomainStartEndE-ValueType
transmembrane domain 13 32 N/A INTRINSIC
Pfam:Sulfotransfer_1 90 339 5.5e-38 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000167191
AA Change: D127G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130778
Gene: ENSMUSG00000044499
AA Change: D127G

DomainStartEndE-ValueType
transmembrane domain 13 32 N/A INTRINSIC
Pfam:Sulfotransfer_1 90 339 5.5e-38 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000168572
AA Change: D127G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129434
Gene: ENSMUSG00000044499
AA Change: D127G

DomainStartEndE-ValueType
transmembrane domain 13 32 N/A INTRINSIC
Pfam:Sulfotransfer_1 90 339 5.5e-38 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] HS3ST5 belongs to a group of heparan sulfate 3-O-sulfotransferases (EC 2.8.2.23) that transfer sulfate from 3-prime-phosphoadenosine 5-prime phosphosulfate (PAPS) to heparan sulfate and heparin (Mochizuki et al., 2003 [PubMed 12740361]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf4 A G 17: 42,666,902 S517P possibly damaging Het
Arl4c T C 1: 88,701,384 D94G probably damaging Het
Bag5 T C 12: 111,711,332 E19G probably damaging Het
Carf T A 1: 60,147,955 D537E probably benign Het
Cd177 C A 7: 24,756,195 D301Y probably damaging Het
Csmd1 C T 8: 16,071,287 V1799I probably benign Het
Cyp4x1 T A 4: 115,112,863 I356F probably benign Het
Elmsan1 T A 12: 84,172,858 I441L probably benign Het
F5 A T 1: 164,204,896 H1804L probably damaging Het
Fras1 G T 5: 96,695,076 G1718C probably damaging Het
Ganc T C 2: 120,439,452 probably benign Het
Gm9992 A T 17: 7,369,739 V130D probably damaging Het
Inpp5a A G 7: 139,516,721 D154G probably benign Het
Kif16b T A 2: 142,704,007 R1134* probably null Het
Lrrc66 C T 5: 73,608,156 A515T possibly damaging Het
Map3k10 C T 7: 27,663,215 probably benign Het
Mrpl12 G A 11: 120,485,376 D71N possibly damaging Het
Nfix A T 8: 84,726,477 V316E probably damaging Het
Nop2 A G 6: 125,139,821 Y346C probably damaging Het
Nrbp1 A G 5: 31,251,059 E513G possibly damaging Het
Ogfrl1 T C 1: 23,370,090 I352V probably benign Het
Olfr1351 A G 10: 79,018,251 T310A probably benign Het
Olfr912 T A 9: 38,581,376 V33E probably damaging Het
Oxr1 G A 15: 41,820,143 V15I possibly damaging Het
Pik3r6 T G 11: 68,551,321 F697C probably damaging Het
Ptk2 A G 15: 73,295,389 probably benign Het
Rnft2 G A 5: 118,201,215 T380M probably damaging Het
Scel A G 14: 103,581,809 N346S probably benign Het
Sema4a T A 3: 88,449,810 T153S probably damaging Het
Serinc2 A T 4: 130,264,408 L82Q possibly damaging Het
Sin3a A G 9: 57,098,118 T392A probably benign Het
Slc25a38 T A 9: 120,120,307 Y108* probably null Het
Tmc8 G A 11: 117,786,504 G317R probably damaging Het
Trpc3 A G 3: 36,640,639 V722A possibly damaging Het
Other mutations in Hs3st5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00507:Hs3st5 APN 10 36832922 missense probably benign 0.02
IGL01407:Hs3st5 APN 10 36833408 missense probably damaging 1.00
IGL01516:Hs3st5 APN 10 36833051 missense probably damaging 1.00
IGL02396:Hs3st5 APN 10 36828703 start codon destroyed probably benign 0.08
IGL03351:Hs3st5 APN 10 36833323 missense probably damaging 1.00
R0606:Hs3st5 UTSW 10 36832588 missense probably benign 0.00
R1412:Hs3st5 UTSW 10 36832676 missense probably benign 0.02
R1443:Hs3st5 UTSW 10 36833414 missense probably benign 0.35
R1493:Hs3st5 UTSW 10 36832874 missense probably damaging 1.00
R1768:Hs3st5 UTSW 10 36833169 missense probably benign 0.01
R1792:Hs3st5 UTSW 10 36832724 missense probably benign
R1991:Hs3st5 UTSW 10 36832886 missense probably damaging 1.00
R1992:Hs3st5 UTSW 10 36832886 missense probably damaging 1.00
R4330:Hs3st5 UTSW 10 36832730 missense probably benign 0.06
R4610:Hs3st5 UTSW 10 36828806 missense probably benign 0.26
R5459:Hs3st5 UTSW 10 36828746 missense possibly damaging 0.85
R5561:Hs3st5 UTSW 10 36833429 missense probably damaging 1.00
R6005:Hs3st5 UTSW 10 36832928 missense probably damaging 1.00
R7082:Hs3st5 UTSW 10 36832837 missense probably benign 0.01
R7326:Hs3st5 UTSW 10 36833194 missense probably damaging 1.00
R7507:Hs3st5 UTSW 10 36833015 missense probably damaging 1.00
Posted On2013-04-17