Incidental Mutation 'R0899:Ndst1'
| ID |
83817 |
| 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 |
| MMRRC Submission |
039059-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0899 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
60817566-60881722 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 60840954 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 243
(T243A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126623
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000169273]
|
| AlphaFold |
Q3UHN9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169273
AA Change: T243A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000126623
Gene: ENSMUSG00000054008
AA Change: T243A
| 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: 99.7%
- 3x: 99.0%
- 10x: 97.2%
- 20x: 93.6%
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5031439G07Rik |
T |
C |
15: 84,833,459 (GRCm39) |
K442E |
probably damaging |
Het |
| Adamts1 |
G |
A |
16: 85,594,940 (GRCm39) |
R340* |
probably null |
Het |
| Afg3l2 |
T |
C |
18: 67,556,047 (GRCm39) |
N428S |
possibly damaging |
Het |
| Aqp12 |
G |
A |
1: 92,934,332 (GRCm39) |
D70N |
probably damaging |
Het |
| Astn1 |
T |
A |
1: 158,338,679 (GRCm39) |
C475* |
probably null |
Het |
| Atp2b1 |
G |
A |
10: 98,852,893 (GRCm39) |
|
probably null |
Het |
| Cbln2 |
T |
C |
18: 86,734,877 (GRCm39) |
S217P |
possibly damaging |
Het |
| Ces2h |
T |
C |
8: 105,741,182 (GRCm39) |
L58P |
probably damaging |
Het |
| Cfap43 |
C |
T |
19: 47,736,433 (GRCm39) |
G1353R |
possibly damaging |
Het |
| Crcp |
A |
G |
5: 130,088,672 (GRCm39) |
M91V |
probably benign |
Het |
| Cubn |
A |
G |
2: 13,367,139 (GRCm39) |
V1577A |
possibly damaging |
Het |
| Dthd1 |
A |
G |
5: 63,000,271 (GRCm39) |
H531R |
probably benign |
Het |
| Fam120a |
G |
T |
13: 49,039,219 (GRCm39) |
A979E |
possibly damaging |
Het |
| Fam3d |
A |
G |
14: 8,364,863 (GRCm38) |
I16T |
probably damaging |
Het |
| Fat2 |
C |
T |
11: 55,147,051 (GRCm39) |
G3982S |
probably damaging |
Het |
| Fbxo44 |
C |
G |
4: 148,240,726 (GRCm39) |
R220S |
probably damaging |
Het |
| Fcnb |
T |
A |
2: 27,966,791 (GRCm39) |
K247N |
probably damaging |
Het |
| Gtf2a1l |
A |
G |
17: 88,976,152 (GRCm39) |
N5S |
|
Het |
| Htr3a |
T |
A |
9: 48,812,752 (GRCm39) |
D229V |
possibly damaging |
Het |
| Ipo11 |
A |
C |
13: 107,037,324 (GRCm39) |
L173* |
probably null |
Het |
| Jam3 |
C |
A |
9: 27,010,253 (GRCm39) |
G244W |
probably damaging |
Het |
| Lypd11 |
C |
T |
7: 24,422,737 (GRCm39) |
R112H |
probably benign |
Het |
| Mrpl52 |
C |
T |
14: 54,664,541 (GRCm39) |
R12* |
probably null |
Het |
| Myo15a |
A |
G |
11: 60,368,011 (GRCm39) |
Y257C |
possibly damaging |
Het |
| Myocd |
G |
A |
11: 65,086,018 (GRCm39) |
P215L |
possibly damaging |
Het |
| Obox5 |
A |
T |
7: 15,492,800 (GRCm39) |
T252S |
probably benign |
Het |
| Or5m13b |
A |
G |
2: 85,753,731 (GRCm39) |
T40A |
probably benign |
Het |
| Or6c75 |
T |
C |
10: 129,337,301 (GRCm39) |
F183L |
probably damaging |
Het |
| Or7g34 |
A |
C |
9: 19,477,843 (GRCm39) |
V276G |
probably damaging |
Het |
| Osbpl1a |
T |
C |
18: 12,890,747 (GRCm39) |
S377G |
possibly damaging |
Het |
| Pfkl |
A |
G |
10: 77,841,273 (GRCm39) |
|
probably null |
Het |
| Prdm16 |
A |
T |
4: 154,613,366 (GRCm39) |
N20K |
probably damaging |
Het |
| Prkd1 |
A |
G |
12: 50,431,976 (GRCm39) |
I589T |
probably damaging |
Het |
| Scnn1b |
G |
A |
7: 121,516,938 (GRCm39) |
G525S |
probably damaging |
Het |
| Tktl2 |
G |
A |
8: 66,964,999 (GRCm39) |
V186M |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,718,329 (GRCm39) |
|
probably benign |
Het |
| Wap |
T |
C |
11: 6,586,725 (GRCm39) |
T125A |
probably benign |
Het |
| Wdr86 |
C |
T |
5: 24,923,005 (GRCm39) |
R229Q |
probably benign |
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 |
|
|
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 |
|
R3798:Ndst1
|
UTSW |
18 |
60,846,238 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
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'- GCTCCATGACGCACTCTAAGTCTC -3'
(R):5'- TTCGAACCTGGGCTTGAAAGACTG -3'
Sequencing Primer
(F):5'- TGTATCGGTCCAAAGGCAGTG -3'
(R):5'- TGCAGCATCAACCCCAAG -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation