Incidental Mutation 'IGL01565:Ndst2'
ID90954
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ndst2
Ensembl Gene ENSMUSG00000039308
Gene NameN-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2
Synonyms[Heparan sulfate]-glucosamine N-sulfotransferase, glucosaminyl N-deacetylase/N-sulphotransferase-2, Mndns
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.377) question?
Stock #IGL01565
Quality Score
Status
Chromosome14
Chromosomal Location20723730-20734562 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 20728206 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 435 (V435E)
Ref Sequence ENSEMBL: ENSMUSP00000153141 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022358] [ENSMUST00000047490] [ENSMUST00000223679] [ENSMUST00000223840] [ENSMUST00000224751] [ENSMUST00000225000] [ENSMUST00000225419]
Predicted Effect probably benign
Transcript: ENSMUST00000022358
SMART Domains Protein: ENSMUSP00000022358
Gene: ENSMUSG00000021819

DomainStartEndE-ValueType
low complexity region 50 66 N/A INTRINSIC
low complexity region 89 102 N/A INTRINSIC
low complexity region 390 405 N/A INTRINSIC
low complexity region 578 612 N/A INTRINSIC
low complexity region 736 751 N/A INTRINSIC
low complexity region 1000 1015 N/A INTRINSIC
low complexity region 1120 1135 N/A INTRINSIC
low complexity region 1176 1211 N/A INTRINSIC
low complexity region 1259 1270 N/A INTRINSIC
low complexity region 1343 1355 N/A INTRINSIC
low complexity region 1470 1487 N/A INTRINSIC
low complexity region 1491 1511 N/A INTRINSIC
low complexity region 1527 1542 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000047490
AA Change: V435E

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000040227
Gene: ENSMUSG00000039308
AA Change: V435E

DomainStartEndE-ValueType
Pfam:HSNSD 25 514 9.1e-245 PFAM
Pfam:Sulfotransfer_1 603 866 9.1e-47 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223561
Predicted Effect probably damaging
Transcript: ENSMUST00000223679
AA Change: V435E

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223782
Predicted Effect probably benign
Transcript: ENSMUST00000223840
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224234
Predicted Effect probably benign
Transcript: ENSMUST00000224751
Predicted Effect probably benign
Transcript: ENSMUST00000224829
Predicted Effect probably damaging
Transcript: ENSMUST00000225000
AA Change: V435E

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225010
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225187
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225320
Predicted Effect probably benign
Transcript: ENSMUST00000225419
Predicted Effect probably benign
Transcript: ENSMUST00000225911
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the N-deacetylase/N-sulfotransferase subfamily of the sulfotransferase 1 proteins. The encoded enzyme has dual functions in processing glucosamine and heparin polymers, including N-deacetylation and N-sulfation. The encoded protein may be localized to the Golgi. [provided by RefSeq, Feb 2009]
PHENOTYPE: Mice homozugous for a null allele exhibit reduced mast cell numbers, histamine storage, protease storage and degranulation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik A G 10: 100,603,360 T36A probably damaging Het
Ankrd35 A G 3: 96,684,785 M796V probably damaging Het
Brpf1 A T 6: 113,316,650 Q560L probably damaging Het
Dbil5 T G 11: 76,218,265 probably benign Het
Dnah9 T C 11: 66,033,829 K2200E possibly damaging Het
Gtf2i T C 5: 134,255,913 I471V probably damaging Het
Has3 T A 8: 106,874,445 W180R probably benign Het
Lrfn1 T C 7: 28,458,769 C38R probably damaging Het
Lrsam1 C T 2: 32,936,495 A455T probably damaging Het
Mettl2 C A 11: 105,126,538 D14E probably benign Het
Mocs1 G A 17: 49,452,320 R364Q probably benign Het
Pi4ka A T 16: 17,389,442 probably benign Het
Pigr A C 1: 130,844,474 D143A possibly damaging Het
Polq A C 16: 37,013,113 N56T probably benign Het
Prmt7 T G 8: 106,250,409 D584E probably damaging Het
R3hdm1 A T 1: 128,186,816 Q511H probably damaging Het
Rbm33 T C 5: 28,391,079 probably benign Het
Rdh19 T G 10: 127,859,595 M226R probably benign Het
Rock2 G A 12: 16,953,317 D386N possibly damaging Het
Slc7a2 A G 8: 40,899,238 T96A possibly damaging Het
Spata2 A G 2: 167,484,294 S202P probably damaging Het
Swsap1 T A 9: 21,957,228 D265E possibly damaging Het
Tdrd3 A T 14: 87,472,232 I117L probably benign Het
Ticrr A G 7: 79,694,548 D1387G probably benign Het
Tnfaip6 A G 2: 52,055,834 S231G probably damaging Het
Trim50 T A 5: 135,367,501 D434E probably benign Het
Tyw5 T C 1: 57,394,081 Y105C probably damaging Het
Usp50 G T 2: 126,777,968 C141* probably null Het
Zfp647 A T 15: 76,911,670 C263* probably null Het
Other mutations in Ndst2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00576:Ndst2 APN 14 20724484 missense probably benign 0.11
IGL00650:Ndst2 APN 14 20729668 missense possibly damaging 0.77
IGL01746:Ndst2 APN 14 20729414 missense probably benign 0.02
IGL02457:Ndst2 APN 14 20729554 missense possibly damaging 0.95
IGL03193:Ndst2 APN 14 20729849 missense probably damaging 0.97
IGL03238:Ndst2 APN 14 20728504 missense probably damaging 1.00
IGL03277:Ndst2 APN 14 20730166 missense possibly damaging 0.92
R0090:Ndst2 UTSW 14 20727267 missense probably damaging 0.98
R0481:Ndst2 UTSW 14 20724468 missense possibly damaging 0.70
R0677:Ndst2 UTSW 14 20729579 missense probably benign 0.06
R0834:Ndst2 UTSW 14 20729693 missense probably damaging 1.00
R1015:Ndst2 UTSW 14 20730064 missense probably damaging 1.00
R1354:Ndst2 UTSW 14 20724975 missense possibly damaging 0.74
R1678:Ndst2 UTSW 14 20724514 missense probably benign 0.00
R2680:Ndst2 UTSW 14 20724754 missense probably damaging 0.99
R2853:Ndst2 UTSW 14 20729896 missense probably damaging 1.00
R5000:Ndst2 UTSW 14 20724907 critical splice donor site probably null
R5266:Ndst2 UTSW 14 20724487 missense probably damaging 1.00
R6737:Ndst2 UTSW 14 20727494 missense probably damaging 1.00
R7109:Ndst2 UTSW 14 20729843 missense probably damaging 1.00
Posted On2013-12-09