Incidental Mutation 'IGL00576:Ndst2'
| ID |
4228 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ndst2
|
| Ensembl Gene |
ENSMUSG00000039308 |
| Gene Name |
N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2 |
| Synonyms |
[Heparan sulfate]-glucosamine N-sulfotransferase, Mndns, glucosaminyl N-deacetylase/N-sulphotransferase-2 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.429)
|
| Stock # |
IGL00576
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
20773798-20784630 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 20774552 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 835
(R835G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153141
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022358]
[ENSMUST00000047490]
[ENSMUST00000223679]
[ENSMUST00000223840]
[ENSMUST00000225419]
[ENSMUST00000225000]
[ENSMUST00000224751]
|
| AlphaFold |
P52850 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022358
|
| SMART Domains |
Protein: ENSMUSP00000022358
Gene: ENSMUSG00000021819
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
50 |
66 |
N/A |
INTRINSIC |
|
low complexity region
|
89 |
102 |
N/A |
INTRINSIC |
|
low complexity region
|
390 |
405 |
N/A |
INTRINSIC |
|
low complexity region
|
578 |
612 |
N/A |
INTRINSIC |
|
low complexity region
|
736 |
751 |
N/A |
INTRINSIC |
|
low complexity region
|
1000 |
1015 |
N/A |
INTRINSIC |
|
low complexity region
|
1120 |
1135 |
N/A |
INTRINSIC |
|
low complexity region
|
1176 |
1211 |
N/A |
INTRINSIC |
|
low complexity region
|
1259 |
1270 |
N/A |
INTRINSIC |
|
low complexity region
|
1343 |
1355 |
N/A |
INTRINSIC |
|
low complexity region
|
1470 |
1487 |
N/A |
INTRINSIC |
|
low complexity region
|
1491 |
1511 |
N/A |
INTRINSIC |
|
low complexity region
|
1527 |
1542 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047490
AA Change: R835G
PolyPhen 2
Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000040227
Gene: ENSMUSG00000039308
AA Change: R835G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HSNSD
|
25 |
514 |
9.1e-245 |
PFAM |
|
Pfam:Sulfotransfer_1
|
603 |
866 |
9.1e-47 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223561
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223679
AA Change: R835G
PolyPhen 2
Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223782
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223840
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224234
|
| Predicted Effect |
silent
Transcript: ENSMUST00000224829
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225419
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225000
AA Change: R835G
PolyPhen 2
Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225187
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224751
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224485
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225911
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225320
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225010
|
| 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 N-deacetylase/N-sulfotransferase subfamily of the sulfotransferase 1 proteins. The encoded enzyme has dual functions in processing glucosamine and heparin polymers, including N-deacetylation and N-sulfation. The encoded protein may be localized to the Golgi. [provided by RefSeq, Feb 2009]
PHENOTYPE: Mice homozugous for a null allele exhibit reduced mast cell numbers, histamine storage, protease storage and degranulation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ak8 |
T |
C |
2: 28,632,729 (GRCm39) |
L316P |
probably damaging |
Het |
| Ampd3 |
C |
T |
7: 110,388,028 (GRCm39) |
|
probably benign |
Het |
| Arhgap42 |
C |
A |
9: 8,997,621 (GRCm39) |
E835* |
probably null |
Het |
| Arid2 |
G |
A |
15: 96,254,639 (GRCm39) |
V162M |
probably damaging |
Het |
| Atp2a2 |
C |
T |
5: 122,596,146 (GRCm39) |
|
probably null |
Het |
| Bmper |
A |
G |
9: 23,317,899 (GRCm39) |
D506G |
probably damaging |
Het |
| Clca4b |
A |
G |
3: 144,631,108 (GRCm39) |
F251L |
probably damaging |
Het |
| Col12a1 |
T |
C |
9: 79,554,934 (GRCm39) |
D2048G |
probably damaging |
Het |
| Dnhd1 |
G |
A |
7: 105,341,882 (GRCm39) |
S1227N |
probably damaging |
Het |
| Dpp8 |
T |
A |
9: 64,951,111 (GRCm39) |
H182Q |
probably benign |
Het |
| Drosha |
A |
G |
15: 12,883,280 (GRCm39) |
K798E |
probably damaging |
Het |
| Gbp8 |
A |
G |
5: 105,165,754 (GRCm39) |
|
probably benign |
Het |
| Hectd1 |
A |
G |
12: 51,806,092 (GRCm39) |
I1843T |
probably damaging |
Het |
| Kansl1l |
T |
C |
1: 66,763,733 (GRCm39) |
N772S |
possibly damaging |
Het |
| Lrrc37 |
A |
G |
11: 103,508,212 (GRCm39) |
|
probably benign |
Het |
| Psme4 |
T |
C |
11: 30,773,145 (GRCm39) |
V836A |
possibly damaging |
Het |
| Ptpn21 |
G |
A |
12: 98,699,860 (GRCm39) |
S18F |
probably damaging |
Het |
| Reln |
T |
C |
5: 22,359,948 (GRCm39) |
H192R |
probably benign |
Het |
| Tcf20 |
A |
G |
15: 82,740,276 (GRCm39) |
F392L |
probably damaging |
Het |
| Ttc21a |
T |
C |
9: 119,794,885 (GRCm39) |
F1024L |
probably damaging |
Het |
| Vezf1 |
T |
A |
11: 87,964,470 (GRCm39) |
C19* |
probably null |
Het |
| Wdr47 |
A |
G |
3: 108,526,050 (GRCm39) |
N191S |
probably benign |
Het |
| Zfp7 |
T |
G |
15: 76,775,101 (GRCm39) |
|
probably benign |
Het |
| Zfp933 |
A |
T |
4: 147,910,778 (GRCm39) |
C273S |
probably damaging |
Het |
|
| Other mutations in Ndst2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00650:Ndst2
|
APN |
14 |
20,779,736 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL01565:Ndst2
|
APN |
14 |
20,778,274 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01746:Ndst2
|
APN |
14 |
20,779,482 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02457:Ndst2
|
APN |
14 |
20,779,622 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL03193:Ndst2
|
APN |
14 |
20,779,917 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03238:Ndst2
|
APN |
14 |
20,778,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03277:Ndst2
|
APN |
14 |
20,780,234 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0090:Ndst2
|
UTSW |
14 |
20,777,335 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0481:Ndst2
|
UTSW |
14 |
20,774,536 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R0677:Ndst2
|
UTSW |
14 |
20,779,647 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0834:Ndst2
|
UTSW |
14 |
20,779,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1015:Ndst2
|
UTSW |
14 |
20,780,132 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1354:Ndst2
|
UTSW |
14 |
20,775,043 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R1678:Ndst2
|
UTSW |
14 |
20,774,582 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2680:Ndst2
|
UTSW |
14 |
20,774,822 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2853:Ndst2
|
UTSW |
14 |
20,779,964 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5000:Ndst2
|
UTSW |
14 |
20,774,975 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5266:Ndst2
|
UTSW |
14 |
20,774,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6737:Ndst2
|
UTSW |
14 |
20,777,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7109:Ndst2
|
UTSW |
14 |
20,779,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7506:Ndst2
|
UTSW |
14 |
20,780,153 (GRCm39) |
missense |
probably benign |
|
|
R7646:Ndst2
|
UTSW |
14 |
20,774,527 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7985:Ndst2
|
UTSW |
14 |
20,778,478 (GRCm39) |
splice site |
probably null |
|
|
R8094:Ndst2
|
UTSW |
14 |
20,778,232 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8893:Ndst2
|
UTSW |
14 |
20,774,830 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9105:Ndst2
|
UTSW |
14 |
20,780,070 (GRCm39) |
missense |
probably benign |
|
|
R9209:Ndst2
|
UTSW |
14 |
20,779,240 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9428:Ndst2
|
UTSW |
14 |
20,775,470 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9723:Ndst2
|
UTSW |
14 |
20,775,512 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2012-04-20 |
Incidental Mutation