Incidental Mutation 'IGL03200:Ndst1'
ID |
412952 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ndst1
|
Ensembl Gene |
ENSMUSG00000054008 |
Gene Name |
N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 |
Synonyms |
glucosaminyl N-deacetylase/N-sulfotransferase 1, b2b2230Clo, Hsst, Ndst-1, 1200015G06Rik |
Accession Numbers |
|
Is this an essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL03200
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
60685978-60713389 bp(-) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 60699539 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 573
(I573N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126623
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000169273]
|
AlphaFold |
Q3UHN9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000169273
AA Change: I573N
PolyPhen 2
Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000126623 Gene: ENSMUSG00000054008 AA Change: I573N
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
12 |
N/A |
INTRINSIC |
Pfam:HSNSD
|
25 |
515 |
5.1e-254 |
PFAM |
Pfam:Sulfotransfer_1
|
604 |
869 |
2.2e-48 |
PFAM |
|
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 heparan sulfate/heparin GlcNAc N-deacetylase/ N-sulfotransferase family. The encoded enzyme is a type II transmembrane protein that resides in the Golgi apparatus. The encoded protein catalyzes the transfer of sulfate from 3'-phosphoadenosine 5'-phosphosulfate to nitrogen of glucosamine in heparan sulfate. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014] PHENOTYPE: Mice homozygous for disruptions in this gene die late in gestation or neonatally. Lungs fail to inflate and mice born alive experience respiratory distress and failure. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 17 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb5 |
A |
G |
12: 118,965,254 |
|
probably benign |
Het |
Degs1 |
A |
T |
1: 182,279,691 |
M1K |
probably null |
Het |
Eif3e |
A |
T |
15: 43,252,261 |
W370R |
probably damaging |
Het |
H2-M10.6 |
G |
A |
17: 36,814,016 |
G275E |
probably damaging |
Het |
Itga8 |
C |
T |
2: 12,191,199 |
V647I |
probably benign |
Het |
Kcnip2 |
T |
G |
19: 45,794,063 |
K190Q |
probably damaging |
Het |
Mbd1 |
T |
G |
18: 74,276,431 |
S251A |
probably benign |
Het |
Mcpt9 |
T |
A |
14: 56,026,933 |
H235L |
probably benign |
Het |
Ntan1 |
C |
T |
16: 13,834,727 |
P229L |
probably damaging |
Het |
Rbl2 |
T |
C |
8: 91,096,767 |
I441T |
probably benign |
Het |
Sulf1 |
C |
T |
1: 12,786,617 |
R31* |
probably null |
Het |
Taok1 |
G |
A |
11: 77,575,652 |
Q124* |
probably null |
Het |
Thegl |
T |
A |
5: 77,060,864 |
V413D |
possibly damaging |
Het |
Tmem140 |
A |
G |
6: 34,872,879 |
E110G |
possibly damaging |
Het |
U2surp |
G |
A |
9: 95,491,391 |
R242* |
probably null |
Het |
Ywhag |
G |
A |
5: 135,911,060 |
R227* |
probably null |
Het |
Zfp456 |
C |
T |
13: 67,366,477 |
R370H |
probably benign |
Het |
|
Other mutations in Ndst1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00336:Ndst1
|
APN |
18 |
60707956 |
missense |
probably damaging |
1.00 |
IGL01410:Ndst1
|
APN |
18 |
60700445 |
missense |
probably damaging |
1.00 |
IGL01578:Ndst1
|
APN |
18 |
60713126 |
missense |
probably damaging |
1.00 |
IGL02133:Ndst1
|
APN |
18 |
60699546 |
missense |
probably benign |
0.05 |
R0631:Ndst1
|
UTSW |
18 |
60700359 |
splice site |
probably benign |
|
R0899:Ndst1
|
UTSW |
18 |
60707882 |
missense |
probably benign |
0.00 |
R1104:Ndst1
|
UTSW |
18 |
60697146 |
missense |
probably damaging |
0.98 |
R1371:Ndst1
|
UTSW |
18 |
60707647 |
missense |
possibly damaging |
0.90 |
R1456:Ndst1
|
UTSW |
18 |
60713205 |
missense |
possibly damaging |
0.73 |
R1511:Ndst1
|
UTSW |
18 |
60697170 |
missense |
possibly damaging |
0.61 |
R1524:Ndst1
|
UTSW |
18 |
60698504 |
missense |
probably damaging |
0.99 |
R1699:Ndst1
|
UTSW |
18 |
60695508 |
missense |
probably damaging |
1.00 |
R1718:Ndst1
|
UTSW |
18 |
60707803 |
missense |
probably damaging |
0.99 |
R1772:Ndst1
|
UTSW |
18 |
60702837 |
missense |
probably damaging |
0.99 |
R1900:Ndst1
|
UTSW |
18 |
60712721 |
critical splice donor site |
probably null |
|
R2079:Ndst1
|
UTSW |
18 |
60695509 |
missense |
probably damaging |
1.00 |
R2105:Ndst1
|
UTSW |
18 |
60691253 |
missense |
probably benign |
0.01 |
R2127:Ndst1
|
UTSW |
18 |
60691208 |
missense |
probably benign |
0.00 |
R2875:Ndst1
|
UTSW |
18 |
60690047 |
missense |
probably damaging |
1.00 |
R3798:Ndst1
|
UTSW |
18 |
60713166 |
missense |
possibly damaging |
0.94 |
R3950:Ndst1
|
UTSW |
18 |
60697139 |
missense |
probably benign |
0.12 |
R3951:Ndst1
|
UTSW |
18 |
60697139 |
missense |
probably benign |
0.12 |
R3952:Ndst1
|
UTSW |
18 |
60697139 |
missense |
probably benign |
0.12 |
R4868:Ndst1
|
UTSW |
18 |
60695476 |
missense |
probably benign |
0.07 |
R4898:Ndst1
|
UTSW |
18 |
60691987 |
missense |
probably benign |
0.12 |
R4988:Ndst1
|
UTSW |
18 |
60702933 |
missense |
probably damaging |
0.99 |
R5271:Ndst1
|
UTSW |
18 |
60705132 |
missense |
probably benign |
0.03 |
R5337:Ndst1
|
UTSW |
18 |
60690007 |
missense |
probably damaging |
1.00 |
R5467:Ndst1
|
UTSW |
18 |
60692021 |
missense |
probably benign |
|
R5830:Ndst1
|
UTSW |
18 |
60703838 |
missense |
probably damaging |
1.00 |
R5968:Ndst1
|
UTSW |
18 |
60713076 |
missense |
probably benign |
|
R6241:Ndst1
|
UTSW |
18 |
60703829 |
missense |
probably damaging |
0.99 |
R6422:Ndst1
|
UTSW |
18 |
60702953 |
missense |
probably benign |
0.44 |
R7099:Ndst1
|
UTSW |
18 |
60695500 |
missense |
possibly damaging |
0.88 |
R7544:Ndst1
|
UTSW |
18 |
60697184 |
missense |
probably damaging |
1.00 |
R8918:Ndst1
|
UTSW |
18 |
60692011 |
missense |
probably benign |
0.00 |
R8951:Ndst1
|
UTSW |
18 |
60697124 |
missense |
probably benign |
|
R9187:Ndst1
|
UTSW |
18 |
60691196 |
missense |
probably benign |
0.03 |
R9374:Ndst1
|
UTSW |
18 |
60712859 |
missense |
probably damaging |
0.97 |
V8831:Ndst1
|
UTSW |
18 |
60702927 |
missense |
probably damaging |
1.00 |
|
Posted On |
2016-08-02 |