Incidental Mutation 'R3798:Ndst1'
| ID |
272860 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ndst1
|
| Ensembl Gene |
ENSMUSG00000054008 |
| Gene Name |
N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 |
| Synonyms |
Ndst-1, b2b2230Clo, 1200015G06Rik, Hsst, glucosaminyl N-deacetylase/N-sulfotransferase 1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3798 (G1)
|
| Quality Score |
181 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
60817566-60881722 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 60846238 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 24
(F24L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126623
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000169273]
|
| AlphaFold |
Q3UHN9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000169273
AA Change: F24L
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000126623
Gene: ENSMUSG00000054008
AA Change: F24L
| 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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadsb |
T |
A |
7: 131,033,694 (GRCm39) |
V237E |
probably damaging |
Het |
| Adgrf3 |
T |
C |
5: 30,401,821 (GRCm39) |
I736V |
possibly damaging |
Het |
| Alpk3 |
C |
A |
7: 80,742,501 (GRCm39) |
P773T |
probably benign |
Het |
| Basp1 |
C |
A |
15: 25,364,398 (GRCm39) |
|
probably benign |
Het |
| Bbs9 |
T |
C |
9: 22,550,065 (GRCm39) |
S21P |
probably damaging |
Het |
| Btbd16 |
A |
G |
7: 130,378,870 (GRCm39) |
N5D |
probably benign |
Het |
| Csmd2 |
C |
T |
4: 128,411,388 (GRCm39) |
P2469S |
probably benign |
Het |
| Cyld |
T |
C |
8: 89,461,558 (GRCm39) |
L662P |
probably damaging |
Het |
| Eif2ak4 |
C |
T |
2: 118,304,564 (GRCm39) |
R1530C |
probably damaging |
Het |
| Fam43b |
G |
C |
4: 138,122,409 (GRCm39) |
R304G |
probably benign |
Het |
| Ip6k3 |
T |
C |
17: 27,364,080 (GRCm39) |
I323V |
probably benign |
Het |
| Itpr1 |
T |
C |
6: 108,358,231 (GRCm39) |
L599P |
probably damaging |
Het |
| Lancl1 |
G |
A |
1: 67,073,303 (GRCm39) |
T60I |
probably damaging |
Het |
| Lmf1 |
G |
A |
17: 25,873,445 (GRCm39) |
V317M |
probably damaging |
Het |
| Lrrc8d |
T |
A |
5: 105,960,355 (GRCm39) |
I255N |
probably benign |
Het |
| Notch1 |
A |
T |
2: 26,368,630 (GRCm39) |
V553E |
probably benign |
Het |
| Nsd3 |
T |
A |
8: 26,188,873 (GRCm39) |
W69R |
probably damaging |
Het |
| Or2g25 |
T |
A |
17: 37,970,997 (GRCm39) |
I76F |
probably damaging |
Het |
| Pcm1 |
T |
C |
8: 41,711,051 (GRCm39) |
I107T |
possibly damaging |
Het |
| Pcnx3 |
G |
A |
19: 5,728,696 (GRCm39) |
Q422* |
probably null |
Het |
| Phrf1 |
C |
T |
7: 140,839,831 (GRCm39) |
R243* |
probably null |
Het |
| Ptbp3 |
T |
C |
4: 59,546,166 (GRCm39) |
I9V |
probably benign |
Het |
| Sacs |
T |
C |
14: 61,443,570 (GRCm39) |
V1872A |
possibly damaging |
Het |
| Slc35g3 |
A |
G |
11: 69,651,743 (GRCm39) |
F103L |
probably benign |
Het |
| Slx4ip |
T |
A |
2: 136,909,543 (GRCm39) |
D109E |
probably benign |
Het |
| Tas2r118 |
T |
C |
6: 23,969,822 (GRCm39) |
K80E |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,725,087 (GRCm39) |
|
probably benign |
Het |
| Vmn2r72 |
T |
C |
7: 85,387,285 (GRCm39) |
S760G |
probably benign |
Het |
| Vmn2r79 |
A |
G |
7: 86,651,402 (GRCm39) |
Y267C |
possibly damaging |
Het |
| Wdr90 |
T |
C |
17: 26,069,472 (GRCm39) |
S1194G |
probably benign |
Het |
| Xdh |
T |
C |
17: 74,214,653 (GRCm39) |
E764G |
probably damaging |
Het |
|
| Other mutations in Ndst1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00336:Ndst1
|
APN |
18 |
60,841,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01410:Ndst1
|
APN |
18 |
60,833,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01578:Ndst1
|
APN |
18 |
60,846,198 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02133:Ndst1
|
APN |
18 |
60,832,618 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL03200:Ndst1
|
APN |
18 |
60,832,611 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0631:Ndst1
|
UTSW |
18 |
60,833,431 (GRCm39) |
splice site |
probably benign |
|
|
R0899:Ndst1
|
UTSW |
18 |
60,840,954 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1104:Ndst1
|
UTSW |
18 |
60,830,218 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1371:Ndst1
|
UTSW |
18 |
60,840,719 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1456:Ndst1
|
UTSW |
18 |
60,846,277 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1511:Ndst1
|
UTSW |
18 |
60,830,242 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R1524:Ndst1
|
UTSW |
18 |
60,831,576 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1699:Ndst1
|
UTSW |
18 |
60,828,580 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1718:Ndst1
|
UTSW |
18 |
60,840,875 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1772:Ndst1
|
UTSW |
18 |
60,835,909 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1900:Ndst1
|
UTSW |
18 |
60,845,793 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2079:Ndst1
|
UTSW |
18 |
60,828,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2105:Ndst1
|
UTSW |
18 |
60,824,325 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2127:Ndst1
|
UTSW |
18 |
60,824,280 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2875:Ndst1
|
UTSW |
18 |
60,823,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3950:Ndst1
|
UTSW |
18 |
60,830,211 (GRCm39) |
missense |
probably benign |
0.12 |
|
R3951:Ndst1
|
UTSW |
18 |
60,830,211 (GRCm39) |
missense |
probably benign |
0.12 |
|
R3952:Ndst1
|
UTSW |
18 |
60,830,211 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4868:Ndst1
|
UTSW |
18 |
60,828,548 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4898:Ndst1
|
UTSW |
18 |
60,825,059 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4988:Ndst1
|
UTSW |
18 |
60,836,005 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5271:Ndst1
|
UTSW |
18 |
60,838,204 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5337:Ndst1
|
UTSW |
18 |
60,823,079 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5467:Ndst1
|
UTSW |
18 |
60,825,093 (GRCm39) |
missense |
probably benign |
|
|
R5830:Ndst1
|
UTSW |
18 |
60,836,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5968:Ndst1
|
UTSW |
18 |
60,846,148 (GRCm39) |
missense |
probably benign |
|
|
R6241:Ndst1
|
UTSW |
18 |
60,836,901 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6422:Ndst1
|
UTSW |
18 |
60,836,025 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7099:Ndst1
|
UTSW |
18 |
60,828,572 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7544:Ndst1
|
UTSW |
18 |
60,830,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8918:Ndst1
|
UTSW |
18 |
60,825,083 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8951:Ndst1
|
UTSW |
18 |
60,830,196 (GRCm39) |
missense |
probably benign |
|
|
R9187:Ndst1
|
UTSW |
18 |
60,824,268 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9374:Ndst1
|
UTSW |
18 |
60,845,931 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9526:Ndst1
|
UTSW |
18 |
60,838,220 (GRCm39) |
nonsense |
probably null |
|
|
R9552:Ndst1
|
UTSW |
18 |
60,845,931 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9651:Ndst1
|
UTSW |
18 |
60,833,539 (GRCm39) |
missense |
probably damaging |
0.96 |
|
V8831:Ndst1
|
UTSW |
18 |
60,835,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGCCCAGCTGTGAATAAAG -3'
(R):5'- AGTCTCTGCATTTCTCAGTCAGTG -3'
Sequencing Primer
(F):5'- AGCTGTGAATAAAGGCTCTCC -3'
(R):5'- GCATTTCTCAGTCAGTGGACAGC -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation