Incidental Mutation 'IGL02133:Ndst1'
| ID |
281082 |
| 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 |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02133
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
60685978-60713389 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 60699546 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 571
(F571L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126623
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000169273]
|
| AlphaFold |
Q3UHN9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169273
AA Change: F571L
PolyPhen 2
Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000126623
Gene: ENSMUSG00000054008
AA Change: F571L
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700011H14Rik |
T |
A |
14: 49,232,967 (GRCm38) |
Q165L |
probably benign |
Het |
| 9530068E07Rik |
G |
T |
11: 52,403,510 (GRCm38) |
A193S |
probably damaging |
Het |
| Adam4 |
A |
G |
12: 81,420,029 (GRCm38) |
V606A |
probably benign |
Het |
| Atp2c2 |
A |
G |
8: 119,754,335 (GRCm38) |
I821V |
probably benign |
Het |
| Bmi1 |
A |
T |
2: 18,683,677 (GRCm38) |
R160W |
probably damaging |
Het |
| Ccdc88c |
G |
A |
12: 100,940,090 (GRCm38) |
R1062C |
probably damaging |
Het |
| Cntnap3 |
A |
T |
13: 64,751,673 (GRCm38) |
|
probably benign |
Het |
| Col20a1 |
C |
T |
2: 181,007,144 (GRCm38) |
T940I |
probably damaging |
Het |
| Csmd3 |
A |
C |
15: 47,857,942 (GRCm38) |
M1535R |
possibly damaging |
Het |
| Dhx38 |
C |
A |
8: 109,558,241 (GRCm38) |
E487* |
probably null |
Het |
| Fam186b |
A |
G |
15: 99,273,703 (GRCm38) |
S888P |
probably damaging |
Het |
| Fancm |
G |
A |
12: 65,106,475 (GRCm38) |
G1235D |
probably benign |
Het |
| Grin3a |
C |
T |
4: 49,792,946 (GRCm38) |
W262* |
probably null |
Het |
| Gtdc1 |
A |
T |
2: 44,575,443 (GRCm38) |
M305K |
probably damaging |
Het |
| H2-M9 |
T |
C |
17: 36,641,737 (GRCm38) |
E139G |
possibly damaging |
Het |
| Haus1 |
A |
T |
18: 77,766,911 (GRCm38) |
L53Q |
probably damaging |
Het |
| Hgfac |
A |
G |
5: 35,046,587 (GRCm38) |
Y483C |
probably damaging |
Het |
| Hipk2 |
C |
T |
6: 38,819,134 (GRCm38) |
V67I |
probably benign |
Het |
| Kbtbd8 |
T |
C |
6: 95,121,732 (GRCm38) |
|
probably benign |
Het |
| Kndc1 |
A |
G |
7: 139,920,767 (GRCm38) |
T683A |
probably benign |
Het |
| Ldhb |
A |
T |
6: 142,492,500 (GRCm38) |
M277K |
probably benign |
Het |
| Mgam |
T |
C |
6: 40,643,076 (GRCm38) |
L33P |
probably damaging |
Het |
| Neb |
G |
T |
2: 52,212,804 (GRCm38) |
|
probably null |
Het |
| Nrxn1 |
A |
G |
17: 90,643,243 (GRCm38) |
S503P |
probably damaging |
Het |
| Paqr3 |
A |
G |
5: 97,095,931 (GRCm38) |
V308A |
probably benign |
Het |
| Scnn1g |
T |
C |
7: 121,743,699 (GRCm38) |
F292L |
probably damaging |
Het |
| Stk3 |
A |
G |
15: 35,099,516 (GRCm38) |
F88S |
probably damaging |
Het |
| Tcaf2 |
T |
A |
6: 42,627,396 (GRCm38) |
E683V |
probably benign |
Het |
| Tprkb |
T |
C |
6: 85,927,911 (GRCm38) |
V123A |
probably benign |
Het |
| Ush2a |
T |
C |
1: 188,443,343 (GRCm38) |
Y1213H |
probably damaging |
Het |
| Vwa5b1 |
A |
G |
4: 138,586,557 (GRCm38) |
|
probably null |
Het |
| Wls |
A |
G |
3: 159,897,370 (GRCm38) |
Y140C |
probably damaging |
Het |
| Zan |
A |
G |
5: 137,411,498 (GRCm38) |
S28P |
possibly damaging |
Het |
|
| Other mutations in Ndst1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00336:Ndst1
|
APN |
18 |
60,707,956 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01410:Ndst1
|
APN |
18 |
60,700,445 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01578:Ndst1
|
APN |
18 |
60,713,126 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03200:Ndst1
|
APN |
18 |
60,699,539 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R0631:Ndst1
|
UTSW |
18 |
60,700,359 (GRCm38) |
splice site |
probably benign |
|
|
R0899:Ndst1
|
UTSW |
18 |
60,707,882 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1104:Ndst1
|
UTSW |
18 |
60,697,146 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1371:Ndst1
|
UTSW |
18 |
60,707,647 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R1456:Ndst1
|
UTSW |
18 |
60,713,205 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R1511:Ndst1
|
UTSW |
18 |
60,697,170 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R1524:Ndst1
|
UTSW |
18 |
60,698,504 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1699:Ndst1
|
UTSW |
18 |
60,695,508 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1718:Ndst1
|
UTSW |
18 |
60,707,803 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1772:Ndst1
|
UTSW |
18 |
60,702,837 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1900:Ndst1
|
UTSW |
18 |
60,712,721 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2079:Ndst1
|
UTSW |
18 |
60,695,509 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2105:Ndst1
|
UTSW |
18 |
60,691,253 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2127:Ndst1
|
UTSW |
18 |
60,691,208 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2875:Ndst1
|
UTSW |
18 |
60,690,047 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3798:Ndst1
|
UTSW |
18 |
60,713,166 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R3950:Ndst1
|
UTSW |
18 |
60,697,139 (GRCm38) |
missense |
probably benign |
0.12 |
|
R3951:Ndst1
|
UTSW |
18 |
60,697,139 (GRCm38) |
missense |
probably benign |
0.12 |
|
R3952:Ndst1
|
UTSW |
18 |
60,697,139 (GRCm38) |
missense |
probably benign |
0.12 |
|
R4868:Ndst1
|
UTSW |
18 |
60,695,476 (GRCm38) |
missense |
probably benign |
0.07 |
|
R4898:Ndst1
|
UTSW |
18 |
60,691,987 (GRCm38) |
missense |
probably benign |
0.12 |
|
R4988:Ndst1
|
UTSW |
18 |
60,702,933 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5271:Ndst1
|
UTSW |
18 |
60,705,132 (GRCm38) |
missense |
probably benign |
0.03 |
|
R5337:Ndst1
|
UTSW |
18 |
60,690,007 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5467:Ndst1
|
UTSW |
18 |
60,692,021 (GRCm38) |
missense |
probably benign |
|
|
R5830:Ndst1
|
UTSW |
18 |
60,703,838 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5968:Ndst1
|
UTSW |
18 |
60,713,076 (GRCm38) |
missense |
probably benign |
|
|
R6241:Ndst1
|
UTSW |
18 |
60,703,829 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6422:Ndst1
|
UTSW |
18 |
60,702,953 (GRCm38) |
missense |
probably benign |
0.44 |
|
R7099:Ndst1
|
UTSW |
18 |
60,695,500 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R7544:Ndst1
|
UTSW |
18 |
60,697,184 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8918:Ndst1
|
UTSW |
18 |
60,692,011 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8951:Ndst1
|
UTSW |
18 |
60,697,124 (GRCm38) |
missense |
probably benign |
|
|
R9187:Ndst1
|
UTSW |
18 |
60,691,196 (GRCm38) |
missense |
probably benign |
0.03 |
|
R9374:Ndst1
|
UTSW |
18 |
60,712,859 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R9526:Ndst1
|
UTSW |
18 |
60,705,148 (GRCm38) |
nonsense |
probably null |
|
|
R9552:Ndst1
|
UTSW |
18 |
60,712,859 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R9651:Ndst1
|
UTSW |
18 |
60,700,467 (GRCm38) |
missense |
probably damaging |
0.96 |
|
V8831:Ndst1
|
UTSW |
18 |
60,702,927 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation