Incidental Mutation 'IGL01565:Ndst2'
| ID |
90954 |
| 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: 0.464)
|
| Stock # |
IGL01565
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
20773798-20784630 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 20778274 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 435
(V435E)
|
| 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 damaging
Transcript: ENSMUST00000047490
AA Change: V435E
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000040227
Gene: ENSMUSG00000039308
AA Change: V435E
| 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 damaging
Transcript: ENSMUST00000223679
AA Change: V435E
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223782
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223840
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224234
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225419
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225000
AA Change: V435E
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225187
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225010
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224751
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224829
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225911
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225320
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017N19Rik |
A |
G |
10: 100,439,222 (GRCm39) |
T36A |
probably damaging |
Het |
| Ankrd35 |
A |
G |
3: 96,592,101 (GRCm39) |
M796V |
probably damaging |
Het |
| Brpf1 |
A |
T |
6: 113,293,611 (GRCm39) |
Q560L |
probably damaging |
Het |
| Dbil5 |
T |
G |
11: 76,109,091 (GRCm39) |
|
probably benign |
Het |
| Dnah9 |
T |
C |
11: 65,924,655 (GRCm39) |
K2200E |
possibly damaging |
Het |
| Gtf2i |
T |
C |
5: 134,284,767 (GRCm39) |
I471V |
probably damaging |
Het |
| Has3 |
T |
A |
8: 107,601,077 (GRCm39) |
W180R |
probably benign |
Het |
| Lrfn1 |
T |
C |
7: 28,158,194 (GRCm39) |
C38R |
probably damaging |
Het |
| Lrsam1 |
C |
T |
2: 32,826,507 (GRCm39) |
A455T |
probably damaging |
Het |
| Mettl2 |
C |
A |
11: 105,017,364 (GRCm39) |
D14E |
probably benign |
Het |
| Mocs1 |
G |
A |
17: 49,759,348 (GRCm39) |
R364Q |
probably benign |
Het |
| Pi4ka |
A |
T |
16: 17,207,306 (GRCm39) |
|
probably benign |
Het |
| Pigr |
A |
C |
1: 130,772,211 (GRCm39) |
D143A |
possibly damaging |
Het |
| Polq |
A |
C |
16: 36,833,475 (GRCm39) |
N56T |
probably benign |
Het |
| Prmt7 |
T |
G |
8: 106,977,041 (GRCm39) |
D584E |
probably damaging |
Het |
| R3hdm1 |
A |
T |
1: 128,114,553 (GRCm39) |
Q511H |
probably damaging |
Het |
| Rbm33 |
T |
C |
5: 28,596,077 (GRCm39) |
|
probably benign |
Het |
| Rdh19 |
T |
G |
10: 127,695,464 (GRCm39) |
M226R |
probably benign |
Het |
| Rock2 |
G |
A |
12: 17,003,318 (GRCm39) |
D386N |
possibly damaging |
Het |
| Slc7a2 |
A |
G |
8: 41,352,275 (GRCm39) |
T96A |
possibly damaging |
Het |
| Spata2 |
A |
G |
2: 167,326,214 (GRCm39) |
S202P |
probably damaging |
Het |
| Swsap1 |
T |
A |
9: 21,868,524 (GRCm39) |
D265E |
possibly damaging |
Het |
| Tdrd3 |
A |
T |
14: 87,709,668 (GRCm39) |
I117L |
probably benign |
Het |
| Ticrr |
A |
G |
7: 79,344,296 (GRCm39) |
D1387G |
probably benign |
Het |
| Tnfaip6 |
A |
G |
2: 51,945,846 (GRCm39) |
S231G |
probably damaging |
Het |
| Trim50 |
T |
A |
5: 135,396,355 (GRCm39) |
D434E |
probably benign |
Het |
| Tyw5 |
T |
C |
1: 57,433,240 (GRCm39) |
Y105C |
probably damaging |
Het |
| Usp50 |
G |
T |
2: 126,619,888 (GRCm39) |
C141* |
probably null |
Het |
| Zfp647 |
A |
T |
15: 76,795,870 (GRCm39) |
C263* |
probably null |
Het |
|
| Other mutations in Ndst2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00576:Ndst2
|
APN |
14 |
20,774,552 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL00650:Ndst2
|
APN |
14 |
20,779,736 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
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 |
2013-12-09 |
Incidental Mutation