Incidental Mutation 'R3951:Ndst1'
| ID |
307967 |
| 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 |
040828-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3951 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
60817566-60881722 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 60830211 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 633
(N633S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126623
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000169273]
|
| AlphaFold |
Q3UHN9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169273
AA Change: N633S
PolyPhen 2
Score 0.118 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000126623
Gene: ENSMUSG00000054008
AA Change: N633S
| 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 |
|
| Meta Mutation Damage Score |
0.1548 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
100% (55/55) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017N19Rik |
T |
C |
10: 100,451,158 (GRCm39) |
|
probably benign |
Het |
| 4932414N04Rik |
T |
C |
2: 68,494,747 (GRCm39) |
|
probably null |
Het |
| Akr1c18 |
C |
T |
13: 4,185,284 (GRCm39) |
V283I |
probably benign |
Het |
| Atp2b2 |
T |
A |
6: 113,737,792 (GRCm39) |
M861L |
possibly damaging |
Het |
| Cdh23 |
T |
C |
10: 60,493,105 (GRCm39) |
Y3C |
probably benign |
Het |
| Clspn |
A |
G |
4: 126,470,172 (GRCm39) |
E814G |
probably damaging |
Het |
| Csgalnact1 |
T |
C |
8: 68,913,914 (GRCm39) |
Q97R |
probably benign |
Het |
| Dera |
A |
G |
6: 137,814,118 (GRCm39) |
Y100C |
probably damaging |
Het |
| Ect2 |
A |
T |
3: 27,184,269 (GRCm39) |
D517E |
probably benign |
Het |
| Epha4 |
A |
T |
1: 77,376,353 (GRCm39) |
Y509N |
probably damaging |
Het |
| Fat2 |
T |
C |
11: 55,187,208 (GRCm39) |
T1213A |
probably benign |
Het |
| Fkbp8 |
T |
A |
8: 70,985,311 (GRCm39) |
L275Q |
probably damaging |
Het |
| Gabrb2 |
A |
G |
11: 42,517,708 (GRCm39) |
Y510C |
probably damaging |
Het |
| Gda |
T |
C |
19: 21,449,809 (GRCm39) |
T16A |
probably benign |
Het |
| Ggcx |
G |
A |
6: 72,403,541 (GRCm39) |
G363R |
probably benign |
Het |
| Gm527 |
T |
G |
12: 64,970,276 (GRCm39) |
|
probably benign |
Het |
| Hoxb2 |
A |
G |
11: 96,244,001 (GRCm39) |
E204G |
probably damaging |
Het |
| Hsd17b11 |
G |
A |
5: 104,140,803 (GRCm39) |
|
probably benign |
Het |
| Kat14 |
T |
C |
2: 144,249,249 (GRCm39) |
|
probably benign |
Het |
| Kif16b |
C |
T |
2: 142,549,279 (GRCm39) |
V1079I |
probably benign |
Het |
| Klhl29 |
T |
A |
12: 5,190,660 (GRCm39) |
S112C |
probably damaging |
Het |
| Lpcat2 |
G |
T |
8: 93,591,531 (GRCm39) |
M58I |
probably benign |
Het |
| Lrrc8d |
G |
T |
5: 105,962,142 (GRCm39) |
V851F |
probably benign |
Het |
| Ltbp3 |
T |
C |
19: 5,806,029 (GRCm39) |
V929A |
probably damaging |
Het |
| Map3k20 |
T |
G |
2: 72,268,644 (GRCm39) |
I550M |
probably damaging |
Het |
| Map3k9 |
T |
C |
12: 81,769,295 (GRCm39) |
M941V |
probably benign |
Het |
| Myom2 |
A |
T |
8: 15,134,556 (GRCm39) |
Y453F |
probably benign |
Het |
| Ncapd2 |
T |
C |
6: 125,163,747 (GRCm39) |
K78E |
probably damaging |
Het |
| Ncor2 |
G |
T |
5: 125,109,320 (GRCm39) |
D1496E |
possibly damaging |
Het |
| Ndnf |
T |
C |
6: 65,680,125 (GRCm39) |
Y135H |
possibly damaging |
Het |
| Nmur2 |
G |
C |
11: 55,931,051 (GRCm39) |
P220R |
probably damaging |
Het |
| Nsd1 |
G |
C |
13: 55,416,267 (GRCm39) |
E1438Q |
probably benign |
Het |
| Or5al7 |
G |
T |
2: 85,992,962 (GRCm39) |
C110* |
probably null |
Het |
| Or5w10 |
T |
C |
2: 87,375,409 (GRCm39) |
T160A |
probably damaging |
Het |
| Or8g2 |
A |
T |
9: 39,822,021 (GRCm39) |
R307S |
probably benign |
Het |
| Or9s23 |
T |
A |
1: 92,501,511 (GRCm39) |
M206K |
possibly damaging |
Het |
| Pom121l2 |
T |
G |
13: 22,166,298 (GRCm39) |
S190A |
probably damaging |
Het |
| Prb1b |
G |
A |
6: 132,289,657 (GRCm39) |
P56S |
unknown |
Het |
| Rtn4ip1 |
T |
A |
10: 43,785,893 (GRCm39) |
|
probably null |
Het |
| Scarb1 |
A |
C |
5: 125,364,475 (GRCm39) |
C85G |
probably damaging |
Het |
| Sh2d4b |
A |
G |
14: 40,594,503 (GRCm39) |
I159T |
probably damaging |
Het |
| Skic3 |
T |
G |
13: 76,278,338 (GRCm39) |
L551V |
probably damaging |
Het |
| Sntg1 |
C |
T |
1: 8,853,125 (GRCm39) |
|
probably benign |
Het |
| Sos1 |
G |
A |
17: 80,731,610 (GRCm39) |
T630I |
probably damaging |
Het |
| Spata7 |
T |
A |
12: 98,635,732 (GRCm39) |
D517E |
probably damaging |
Het |
| Tcaf1 |
T |
C |
6: 42,655,993 (GRCm39) |
T328A |
probably benign |
Het |
| Ticrr |
T |
C |
7: 79,331,817 (GRCm39) |
L776S |
probably damaging |
Het |
| Trpc2 |
T |
A |
7: 101,742,781 (GRCm39) |
M597K |
probably damaging |
Het |
| Tubb3 |
C |
A |
8: 124,148,003 (GRCm39) |
T312N |
probably damaging |
Het |
| Ubr4 |
G |
A |
4: 139,120,405 (GRCm39) |
V277M |
probably damaging |
Het |
| Uhrf2 |
G |
A |
19: 30,057,261 (GRCm39) |
R473Q |
probably damaging |
Het |
| Vmn2r43 |
T |
A |
7: 8,258,319 (GRCm39) |
H298L |
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 |
|
|
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 |
|
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 |
|
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'- TGCACCATGACTCACTGTGC -3'
(R):5'- AGGGAGCTAAGACTCCAGAC -3'
Sequencing Primer
(F):5'- CCTGTTTATAGGAATCTCAGCCGAG -3'
(R):5'- CCAGACGGGAAGGGGTTTTC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation