Incidental Mutation 'R6241:Ndst1'
| ID |
505268 |
| 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 |
044402-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6241 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
60817566-60881722 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 60836901 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 387
(F387L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126623
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000169273]
|
| AlphaFold |
Q3UHN9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000169273
AA Change: F387L
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000126623
Gene: ENSMUSG00000054008
AA Change: F387L
| 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 |
0.6817 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.0%
|
| Validation Efficiency |
98% (51/52) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
G |
6: 121,623,788 (GRCm39) |
I385V |
probably benign |
Het |
| Ablim2 |
A |
G |
5: 36,032,241 (GRCm39) |
D622G |
probably damaging |
Het |
| Acsbg1 |
A |
T |
9: 54,549,946 (GRCm39) |
S86T |
probably damaging |
Het |
| Adam34l |
T |
A |
8: 44,079,133 (GRCm39) |
I364L |
probably benign |
Het |
| Ank2 |
A |
C |
3: 126,846,397 (GRCm39) |
D199E |
probably damaging |
Het |
| Art2a |
T |
A |
7: 101,204,452 (GRCm39) |
M29L |
probably benign |
Het |
| Bbs2 |
C |
A |
8: 94,824,863 (GRCm39) |
|
probably null |
Het |
| Brwd1 |
A |
T |
16: 95,815,074 (GRCm39) |
I1402N |
probably damaging |
Het |
| C1qtnf9 |
C |
A |
14: 61,017,069 (GRCm39) |
P200T |
possibly damaging |
Het |
| Ciita |
T |
C |
16: 10,329,767 (GRCm39) |
Y684H |
probably damaging |
Het |
| Dennd1c |
T |
C |
17: 57,373,272 (GRCm39) |
N734D |
probably benign |
Het |
| Depdc1b |
A |
T |
13: 108,460,653 (GRCm39) |
I88F |
possibly damaging |
Het |
| Dsg2 |
A |
G |
18: 20,723,274 (GRCm39) |
|
probably null |
Het |
| Foxp2 |
A |
G |
6: 15,394,761 (GRCm39) |
T154A |
probably damaging |
Het |
| Gmeb1 |
A |
T |
4: 131,969,688 (GRCm39) |
V95D |
possibly damaging |
Het |
| Gmeb1 |
A |
G |
4: 131,973,324 (GRCm39) |
S62P |
probably benign |
Het |
| Golga5 |
T |
A |
12: 102,438,732 (GRCm39) |
V149D |
probably damaging |
Het |
| H1f7 |
A |
C |
15: 98,154,652 (GRCm39) |
S166A |
unknown |
Het |
| Hivep1 |
T |
C |
13: 42,311,846 (GRCm39) |
L1362P |
probably benign |
Het |
| Ift81 |
T |
C |
5: 122,740,414 (GRCm39) |
M205V |
probably benign |
Het |
| Iglv3 |
T |
A |
16: 19,059,968 (GRCm39) |
Q120L |
possibly damaging |
Het |
| Ints9 |
C |
T |
14: 65,217,659 (GRCm39) |
T62I |
possibly damaging |
Het |
| Itga1 |
G |
T |
13: 115,096,673 (GRCm39) |
|
probably null |
Het |
| Katnip |
C |
T |
7: 125,472,006 (GRCm39) |
H1532Y |
probably benign |
Het |
| Krt77 |
A |
C |
15: 101,773,988 (GRCm39) |
I222S |
probably damaging |
Het |
| Mrps25 |
A |
G |
6: 92,160,819 (GRCm39) |
|
probably null |
Het |
| Mrps27 |
A |
G |
13: 99,548,754 (GRCm39) |
T297A |
probably benign |
Het |
| Mup15 |
A |
T |
4: 61,357,850 (GRCm39) |
L7Q |
unknown |
Het |
| Naip1 |
T |
A |
13: 100,562,169 (GRCm39) |
I999F |
probably damaging |
Het |
| Nudt9 |
T |
C |
5: 104,202,151 (GRCm39) |
S71P |
probably damaging |
Het |
| Or14c41 |
C |
A |
7: 86,235,245 (GRCm39) |
A254D |
probably benign |
Het |
| Or2b4 |
A |
G |
17: 38,116,432 (GRCm39) |
Y132C |
probably damaging |
Het |
| Or5al1 |
T |
G |
2: 85,990,380 (GRCm39) |
E111D |
probably damaging |
Het |
| Pak4 |
C |
T |
7: 28,264,690 (GRCm39) |
V71I |
possibly damaging |
Het |
| Pcolce |
A |
C |
5: 137,603,496 (GRCm39) |
S446A |
probably benign |
Het |
| Per2 |
T |
A |
1: 91,349,251 (GRCm39) |
N1040I |
probably damaging |
Het |
| Pla2g6 |
A |
T |
15: 79,188,592 (GRCm39) |
S422T |
probably benign |
Het |
| Pla2r1 |
G |
T |
2: 60,332,543 (GRCm39) |
|
probably null |
Het |
| Plcb4 |
T |
C |
2: 135,752,094 (GRCm39) |
V100A |
possibly damaging |
Het |
| Polr1d |
C |
T |
5: 147,015,533 (GRCm39) |
T72M |
probably benign |
Het |
| Psd3 |
A |
C |
8: 68,270,791 (GRCm39) |
|
probably benign |
Het |
| Radil |
T |
C |
5: 142,480,697 (GRCm39) |
E586G |
probably damaging |
Het |
| Rnf150 |
A |
G |
8: 83,591,093 (GRCm39) |
N152S |
possibly damaging |
Het |
| Serpina1b |
T |
A |
12: 103,695,515 (GRCm39) |
|
probably null |
Het |
| Setd3 |
C |
T |
12: 108,124,114 (GRCm39) |
E192K |
probably benign |
Het |
| Ssu2 |
G |
A |
6: 112,351,781 (GRCm39) |
H315Y |
probably damaging |
Het |
| Taok3 |
T |
A |
5: 117,410,262 (GRCm39) |
M818K |
probably benign |
Het |
| Tmem131l |
T |
C |
3: 83,829,471 (GRCm39) |
N1062S |
probably benign |
Het |
| Tmx4 |
C |
T |
2: 134,481,425 (GRCm39) |
|
probably benign |
Het |
| Traip |
G |
A |
9: 107,845,933 (GRCm39) |
C342Y |
probably benign |
Het |
| Traj9 |
G |
T |
14: 54,446,890 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Vegfc |
T |
C |
8: 54,634,289 (GRCm39) |
S323P |
probably benign |
Het |
| Vinac1 |
T |
C |
2: 128,879,301 (GRCm39) |
D875G |
possibly damaging |
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 |
|
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 |
|
|
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'- AGATCTATCAAACTGGACCGC -3'
(R):5'- GAGTAGGCTTGTGTTTCCCC -3'
Sequencing Primer
(F):5'- TGGACCGCAACAGCACTGAG -3'
(R):5'- CTGGGCCAAAGCTTAGTTGACTC -3'
|
| Posted On |
2018-02-28 |
Incidental Mutation