Incidental Mutation 'R0288:Ndst3'
| ID |
24717 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ndst3
|
| Ensembl Gene |
ENSMUSG00000027977 |
| Gene Name |
N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 |
| Synonyms |
4930511P15Rik, 4921531K01Rik |
| MMRRC Submission |
038507-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.248)
|
| Stock # |
R0288 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
123319815-123484502 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 123465843 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 43
(V43D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133657
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029602]
[ENSMUST00000137404]
[ENSMUST00000154668]
[ENSMUST00000172537]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029602
AA Change: V43D
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000029602
Gene: ENSMUSG00000027977
AA Change: V43D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HSNSD
|
19 |
506 |
4.6e-272 |
PFAM |
|
Pfam:Sulfotransfer_1
|
595 |
858 |
8.4e-44 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137404
AA Change: V43D
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000118796
Gene: ENSMUSG00000027977
AA Change: V43D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HSNSD
|
19 |
506 |
6.4e-272 |
PFAM |
|
PDB:1NST|A
|
549 |
637 |
2e-38 |
PDB |
|
SCOP:d1nsta_
|
570 |
641 |
9e-17 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154668
AA Change: V43D
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000118207
Gene: ENSMUSG00000027977
AA Change: V43D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HSNSD
|
20 |
506 |
1.7e-253 |
PFAM |
|
Pfam:Sulfotransfer_1
|
595 |
858 |
8.4e-44 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172537
AA Change: V43D
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000133657
Gene: ENSMUSG00000027977
AA Change: V43D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HSNSD
|
20 |
328 |
2.4e-130 |
PFAM |
|
Pfam:HSNSD
|
326 |
425 |
8.2e-62 |
PFAM |
|
PDB:1NST|A
|
468 |
556 |
7e-39 |
PDB |
|
SCOP:d1nsta_
|
489 |
560 |
5e-17 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199046
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 95.1%
- 20x: 89.7%
|
| Validation Efficiency |
98% (62/63) |
| 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. This monomeric bifunctional enzyme catalyzes the N-deacetylation and N-sulfation of N-acetylglucosamine residues in heparan sulfate and heparin, which are the initial chemical modifications required for the biosynthesis of the functional oligosaccharide sequences that define the specific ligand binding activities of heparan sulfate and heparin. [provided by RefSeq, Nov 2008]
PHENOTYPE: Mice homozygous for a knockout allele exhibit decreased anxiety-related behavior, cholesterol levels and CD8+ T cells due to moderate heparan-sulfate undersulfation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg3 |
A |
G |
8: 95,766,568 (GRCm39) |
E413G |
possibly damaging |
Het |
| Amigo2 |
G |
T |
15: 97,143,560 (GRCm39) |
N287K |
probably damaging |
Het |
| Ankle2 |
T |
A |
5: 110,384,256 (GRCm39) |
I260K |
probably damaging |
Het |
| Apob |
C |
T |
12: 8,040,779 (GRCm39) |
R635* |
probably null |
Het |
| Camkv |
A |
G |
9: 107,823,555 (GRCm39) |
Y153C |
probably damaging |
Het |
| Capn9 |
A |
G |
8: 125,327,230 (GRCm39) |
|
probably benign |
Het |
| Ces2c |
A |
G |
8: 105,576,376 (GRCm39) |
I130V |
probably benign |
Het |
| Cfap44 |
T |
A |
16: 44,236,257 (GRCm39) |
|
probably benign |
Het |
| Cfhr3 |
A |
G |
1: 139,525,425 (GRCm39) |
|
noncoding transcript |
Het |
| Chmp1a |
G |
T |
8: 123,934,745 (GRCm39) |
D70E |
probably damaging |
Het |
| Coil |
G |
A |
11: 88,872,694 (GRCm39) |
G352R |
probably damaging |
Het |
| Colq |
T |
C |
14: 31,265,949 (GRCm39) |
E188G |
possibly damaging |
Het |
| Cyfip2 |
A |
G |
11: 46,144,799 (GRCm39) |
F685S |
possibly damaging |
Het |
| Cyp4f39 |
A |
G |
17: 32,711,410 (GRCm39) |
N519S |
probably benign |
Het |
| Dennd1c |
A |
T |
17: 57,383,870 (GRCm39) |
|
probably null |
Het |
| Dnah9 |
A |
T |
11: 65,915,960 (GRCm39) |
|
probably null |
Het |
| Dnmbp |
T |
C |
19: 43,890,898 (GRCm39) |
T290A |
possibly damaging |
Het |
| Dsc2 |
T |
C |
18: 20,166,177 (GRCm39) |
D818G |
probably damaging |
Het |
| Gnptab |
G |
A |
10: 88,268,967 (GRCm39) |
V557I |
probably benign |
Het |
| Hdac4 |
A |
T |
1: 91,898,728 (GRCm39) |
H675Q |
probably damaging |
Het |
| Kcnk3 |
T |
C |
5: 30,745,764 (GRCm39) |
M35T |
probably benign |
Het |
| Kif1b |
A |
T |
4: 149,283,795 (GRCm39) |
I1290N |
probably damaging |
Het |
| Klhl14 |
G |
A |
18: 21,698,620 (GRCm39) |
R398W |
probably damaging |
Het |
| Marveld1 |
T |
C |
19: 42,136,265 (GRCm39) |
F60L |
probably damaging |
Het |
| Miox |
C |
T |
15: 89,220,477 (GRCm39) |
L189F |
possibly damaging |
Het |
| Ncoa6 |
TGC |
TGCGC |
2: 155,250,211 (GRCm39) |
|
probably null |
Het |
| Nhsl1 |
A |
G |
10: 18,399,794 (GRCm39) |
D306G |
probably damaging |
Het |
| Nlrp2 |
A |
G |
7: 5,331,544 (GRCm39) |
V284A |
probably benign |
Het |
| Pcdhb15 |
T |
C |
18: 37,608,451 (GRCm39) |
V561A |
probably damaging |
Het |
| Pdcl2 |
T |
C |
5: 76,460,344 (GRCm39) |
I177V |
possibly damaging |
Het |
| Pkd1l3 |
G |
A |
8: 110,373,131 (GRCm39) |
|
probably null |
Het |
| Pla2g6 |
A |
C |
15: 79,171,106 (GRCm39) |
|
probably benign |
Het |
| Plekhj1 |
A |
T |
10: 80,632,444 (GRCm39) |
I122N |
probably damaging |
Het |
| Pmel |
T |
C |
10: 128,550,175 (GRCm39) |
I70T |
probably benign |
Het |
| Psip1 |
T |
C |
4: 83,383,196 (GRCm39) |
D273G |
probably damaging |
Het |
| Rictor |
A |
G |
15: 6,816,021 (GRCm39) |
I1098V |
probably benign |
Het |
| Rif1 |
T |
C |
2: 52,000,025 (GRCm39) |
S1160P |
probably damaging |
Het |
| Rsbn1l |
T |
C |
5: 21,125,038 (GRCm39) |
I255V |
probably damaging |
Het |
| Slc15a5 |
A |
G |
6: 137,994,914 (GRCm39) |
|
probably benign |
Het |
| Slc29a1 |
G |
A |
17: 45,900,730 (GRCm39) |
R111W |
probably damaging |
Het |
| Slc36a1 |
G |
A |
11: 55,109,913 (GRCm39) |
A74T |
probably damaging |
Het |
| Slc5a7 |
A |
T |
17: 54,600,046 (GRCm39) |
Y122* |
probably null |
Het |
| Slc6a3 |
G |
T |
13: 73,709,047 (GRCm39) |
G324W |
probably damaging |
Het |
| Sltm |
T |
C |
9: 70,486,633 (GRCm39) |
S433P |
probably damaging |
Het |
| Spta1 |
T |
C |
1: 174,070,745 (GRCm39) |
S2190P |
probably damaging |
Het |
| Sry |
A |
T |
Y: 2,662,818 (GRCm39) |
F281I |
unknown |
Het |
| Stk32a |
T |
A |
18: 43,438,060 (GRCm39) |
|
probably null |
Het |
| Sytl2 |
T |
C |
7: 90,052,228 (GRCm39) |
|
probably benign |
Het |
| Tbl3 |
G |
A |
17: 24,920,781 (GRCm39) |
H612Y |
probably damaging |
Het |
| Tmem144 |
G |
A |
3: 79,746,580 (GRCm39) |
|
probably benign |
Het |
| Top2a |
A |
G |
11: 98,907,249 (GRCm39) |
|
probably benign |
Het |
| Usp9y |
A |
T |
Y: 1,333,606 (GRCm39) |
|
probably benign |
Het |
| Vldlr |
G |
A |
19: 27,218,051 (GRCm39) |
|
probably benign |
Het |
| Vmn1r28 |
G |
A |
6: 58,242,702 (GRCm39) |
A182T |
probably benign |
Het |
| Vmn2r28 |
A |
G |
7: 5,491,020 (GRCm39) |
L409P |
probably damaging |
Het |
| Vps13c |
T |
C |
9: 67,834,648 (GRCm39) |
V1659A |
probably damaging |
Het |
| Wdr17 |
C |
T |
8: 55,146,131 (GRCm39) |
A90T |
possibly damaging |
Het |
| Zfp280d |
A |
T |
9: 72,238,621 (GRCm39) |
K646* |
probably null |
Het |
| Zfp36 |
A |
G |
7: 28,077,666 (GRCm39) |
S81P |
probably benign |
Het |
| Zfp618 |
A |
T |
4: 63,051,171 (GRCm39) |
T651S |
possibly damaging |
Het |
|
| Other mutations in Ndst3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00505:Ndst3
|
APN |
3 |
123,421,599 (GRCm39) |
splice site |
probably benign |
|
|
IGL00543:Ndst3
|
APN |
3 |
123,465,912 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01067:Ndst3
|
APN |
3 |
123,340,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01301:Ndst3
|
APN |
3 |
123,342,565 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01975:Ndst3
|
APN |
3 |
123,395,163 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL02376:Ndst3
|
APN |
3 |
123,350,447 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02715:Ndst3
|
APN |
3 |
123,340,410 (GRCm39) |
splice site |
probably benign |
|
|
IGL03111:Ndst3
|
APN |
3 |
123,465,745 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
Jack_sprat
|
UTSW |
3 |
123,346,201 (GRCm39) |
missense |
probably damaging |
0.99 |
|
ANU18:Ndst3
|
UTSW |
3 |
123,342,565 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0027:Ndst3
|
UTSW |
3 |
123,465,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0630:Ndst3
|
UTSW |
3 |
123,355,720 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1168:Ndst3
|
UTSW |
3 |
123,400,617 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1400:Ndst3
|
UTSW |
3 |
123,350,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1513:Ndst3
|
UTSW |
3 |
123,395,104 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1524:Ndst3
|
UTSW |
3 |
123,342,555 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1830:Ndst3
|
UTSW |
3 |
123,342,587 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1831:Ndst3
|
UTSW |
3 |
123,395,127 (GRCm39) |
missense |
probably benign |
|
|
R1865:Ndst3
|
UTSW |
3 |
123,465,120 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1871:Ndst3
|
UTSW |
3 |
123,355,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2041:Ndst3
|
UTSW |
3 |
123,465,864 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2056:Ndst3
|
UTSW |
3 |
123,465,534 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2362:Ndst3
|
UTSW |
3 |
123,346,327 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2484:Ndst3
|
UTSW |
3 |
123,346,186 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R3747:Ndst3
|
UTSW |
3 |
123,465,201 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4152:Ndst3
|
UTSW |
3 |
123,465,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4153:Ndst3
|
UTSW |
3 |
123,465,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4154:Ndst3
|
UTSW |
3 |
123,465,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4512:Ndst3
|
UTSW |
3 |
123,465,315 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4579:Ndst3
|
UTSW |
3 |
123,340,474 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4611:Ndst3
|
UTSW |
3 |
123,465,198 (GRCm39) |
missense |
probably benign |
0.35 |
|
R4646:Ndst3
|
UTSW |
3 |
123,465,684 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4718:Ndst3
|
UTSW |
3 |
123,465,915 (GRCm39) |
missense |
probably benign |
0.35 |
|
R4944:Ndst3
|
UTSW |
3 |
123,400,676 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4945:Ndst3
|
UTSW |
3 |
123,346,201 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5179:Ndst3
|
UTSW |
3 |
123,346,181 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5232:Ndst3
|
UTSW |
3 |
123,465,888 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5421:Ndst3
|
UTSW |
3 |
123,428,008 (GRCm39) |
splice site |
probably null |
|
|
R5874:Ndst3
|
UTSW |
3 |
123,355,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6030:Ndst3
|
UTSW |
3 |
123,346,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6030:Ndst3
|
UTSW |
3 |
123,346,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6228:Ndst3
|
UTSW |
3 |
123,465,301 (GRCm39) |
nonsense |
probably null |
|
|
R6496:Ndst3
|
UTSW |
3 |
123,346,201 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6562:Ndst3
|
UTSW |
3 |
123,346,181 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7045:Ndst3
|
UTSW |
3 |
123,465,732 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7152:Ndst3
|
UTSW |
3 |
123,346,305 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7202:Ndst3
|
UTSW |
3 |
123,465,388 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7239:Ndst3
|
UTSW |
3 |
123,400,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7305:Ndst3
|
UTSW |
3 |
123,395,131 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R7417:Ndst3
|
UTSW |
3 |
123,465,313 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7469:Ndst3
|
UTSW |
3 |
123,465,310 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7553:Ndst3
|
UTSW |
3 |
123,350,709 (GRCm39) |
splice site |
probably null |
|
|
R7955:Ndst3
|
UTSW |
3 |
123,400,586 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8065:Ndst3
|
UTSW |
3 |
123,395,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8067:Ndst3
|
UTSW |
3 |
123,395,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8363:Ndst3
|
UTSW |
3 |
123,350,517 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8708:Ndst3
|
UTSW |
3 |
123,322,564 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8752:Ndst3
|
UTSW |
3 |
123,342,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9051:Ndst3
|
UTSW |
3 |
123,465,549 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9428:Ndst3
|
UTSW |
3 |
123,340,518 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9511:Ndst3
|
UTSW |
3 |
123,400,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9537:Ndst3
|
UTSW |
3 |
123,465,162 (GRCm39) |
missense |
|
|
|
R9662:Ndst3
|
UTSW |
3 |
123,465,115 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9667:Ndst3
|
UTSW |
3 |
123,353,866 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R9747:Ndst3
|
UTSW |
3 |
123,340,461 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R9748:Ndst3
|
UTSW |
3 |
123,421,631 (GRCm39) |
missense |
probably benign |
0.17 |
|
Z1176:Ndst3
|
UTSW |
3 |
123,465,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Ndst3
|
UTSW |
3 |
123,421,618 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
Z1176:Ndst3
|
UTSW |
3 |
123,346,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCACATTGTCTGTAAGTGCCGGAAG -3'
(R):5'- TAGGAGCGTGCCTGAAACTCCATC -3'
Sequencing Primer
(F):5'- GGAAGATCTCCTTTTCCAGGAGC -3'
(R):5'- GCCTGAAACTCCATCCCTCC -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation