Incidental Mutation 'R5271:Ndst1'
ID |
400372 |
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 |
042861-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5271 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
60817566-60881722 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 60838204 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 347
(T347I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126623
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000169273]
|
AlphaFold |
Q3UHN9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000169273
AA Change: T347I
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000126623 Gene: ENSMUSG00000054008 AA Change: T347I
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.6%
- 20x: 93.6%
|
Validation Efficiency |
97% (65/67) |
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700003H04Rik |
T |
C |
3: 124,373,496 (GRCm39) |
K33R |
possibly damaging |
Het |
4632415L05Rik |
C |
T |
3: 19,949,311 (GRCm39) |
|
noncoding transcript |
Het |
4930542C16Rik |
A |
C |
14: 24,665,598 (GRCm39) |
|
noncoding transcript |
Het |
Adprh |
A |
T |
16: 38,266,416 (GRCm39) |
L242* |
probably null |
Het |
Anapc1 |
G |
A |
2: 128,527,905 (GRCm39) |
Q18* |
probably null |
Het |
Bfar |
T |
C |
16: 13,510,261 (GRCm39) |
|
probably benign |
Het |
Bmp1 |
T |
C |
14: 70,745,568 (GRCm39) |
I206V |
probably benign |
Het |
Cc2d1b |
T |
A |
4: 108,480,826 (GRCm39) |
|
probably benign |
Het |
Clock |
A |
G |
5: 76,389,801 (GRCm39) |
I349T |
probably damaging |
Het |
Cox11 |
A |
G |
11: 90,534,558 (GRCm39) |
Y60C |
probably damaging |
Het |
Cyp1a1 |
G |
A |
9: 57,610,121 (GRCm39) |
V512M |
probably benign |
Het |
Dcdc2a |
T |
C |
13: 25,371,671 (GRCm39) |
F311S |
probably benign |
Het |
Dnase1l3 |
T |
C |
14: 7,993,843 (GRCm38) |
D48G |
probably damaging |
Het |
Engase |
G |
T |
11: 118,372,223 (GRCm39) |
A172S |
probably damaging |
Het |
F2 |
T |
C |
2: 91,465,466 (GRCm39) |
|
probably benign |
Het |
Galnt2l |
A |
G |
8: 122,997,872 (GRCm39) |
|
probably benign |
Het |
Gcc2 |
T |
C |
10: 58,105,517 (GRCm39) |
V215A |
possibly damaging |
Het |
Gm11677 |
C |
T |
11: 111,615,537 (GRCm39) |
|
noncoding transcript |
Het |
Gm20671 |
T |
C |
5: 32,977,303 (GRCm39) |
K1817R |
possibly damaging |
Het |
Gm20939 |
T |
A |
17: 95,184,583 (GRCm39) |
Y410* |
probably null |
Het |
Gm27013 |
T |
C |
6: 130,653,878 (GRCm39) |
Y528C |
probably damaging |
Het |
Il23r |
T |
C |
6: 67,400,680 (GRCm39) |
H550R |
probably benign |
Het |
Iqgap1 |
A |
T |
7: 80,383,896 (GRCm39) |
V1056E |
probably damaging |
Het |
Lrit3 |
T |
A |
3: 129,581,950 (GRCm39) |
Y679F |
probably damaging |
Het |
Megf8 |
A |
T |
7: 25,041,131 (GRCm39) |
E1120V |
probably damaging |
Het |
Mta1 |
A |
G |
12: 113,095,577 (GRCm39) |
E518G |
probably damaging |
Het |
Myo9a |
A |
G |
9: 59,814,665 (GRCm39) |
I2200M |
probably damaging |
Het |
Ncoa7 |
T |
C |
10: 30,598,725 (GRCm39) |
H66R |
probably benign |
Het |
Ncor1 |
A |
G |
11: 62,231,371 (GRCm39) |
V812A |
probably damaging |
Het |
Ndnf |
T |
C |
6: 65,680,650 (GRCm39) |
Y310H |
possibly damaging |
Het |
Or10a3m |
T |
C |
7: 108,313,424 (GRCm39) |
L276S |
probably damaging |
Het |
Or4c15b |
A |
T |
2: 89,113,297 (GRCm39) |
F60Y |
probably benign |
Het |
Pcdhb10 |
C |
A |
18: 37,546,222 (GRCm39) |
Q433K |
probably benign |
Het |
Pcdhb18 |
G |
A |
18: 37,624,649 (GRCm39) |
V660M |
possibly damaging |
Het |
Pds5b |
T |
A |
5: 150,646,818 (GRCm39) |
N202K |
possibly damaging |
Het |
Pira12 |
A |
T |
7: 3,900,566 (GRCm39) |
Y61* |
probably null |
Het |
Polk |
T |
C |
13: 96,620,047 (GRCm39) |
S718G |
probably benign |
Het |
Ptpdc1 |
T |
C |
13: 48,744,174 (GRCm39) |
D149G |
probably damaging |
Het |
Rb1cc1 |
T |
A |
1: 6,319,417 (GRCm39) |
C35* |
probably null |
Het |
Samd9l |
C |
T |
6: 3,376,156 (GRCm39) |
M368I |
probably benign |
Het |
Shroom3 |
T |
C |
5: 93,110,107 (GRCm39) |
M1739T |
probably damaging |
Het |
Slc18a3 |
A |
G |
14: 32,185,705 (GRCm39) |
L226P |
probably damaging |
Het |
St7l |
A |
T |
3: 104,775,376 (GRCm39) |
Y84F |
probably damaging |
Het |
Svil |
A |
T |
18: 5,062,329 (GRCm39) |
N392I |
probably benign |
Het |
Syngr1 |
T |
A |
15: 79,982,240 (GRCm39) |
M9K |
probably benign |
Het |
Taar2 |
T |
C |
10: 23,816,930 (GRCm39) |
S157P |
probably damaging |
Het |
Tagap1 |
G |
T |
17: 7,223,495 (GRCm39) |
Y400* |
probably null |
Het |
Tbc1d8 |
T |
A |
1: 39,412,848 (GRCm39) |
E976V |
probably damaging |
Het |
Tmem163 |
G |
A |
1: 127,419,289 (GRCm39) |
|
probably benign |
Het |
Tnfaip2 |
A |
G |
12: 111,414,894 (GRCm39) |
|
probably benign |
Het |
Ttn |
C |
T |
2: 76,536,861 (GRCm39) |
S34988N |
possibly damaging |
Het |
Tubg1 |
T |
G |
11: 101,011,064 (GRCm39) |
N15K |
probably damaging |
Het |
Unc93a2 |
T |
C |
17: 7,637,081 (GRCm39) |
N149S |
possibly damaging |
Het |
Vmn2r129 |
G |
T |
4: 156,686,692 (GRCm39) |
|
noncoding transcript |
Het |
Zap70 |
T |
A |
1: 36,820,446 (GRCm39) |
V547D |
probably damaging |
Het |
Zfp146 |
G |
T |
7: 29,861,900 (GRCm39) |
N47K |
probably benign |
Het |
Znrf1 |
T |
G |
8: 112,335,976 (GRCm39) |
M159R |
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 |
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 |
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'- GGAGTCACCCTTCCCTTAAC -3'
(R):5'- GCTGAAAATGAAACCCCGGG -3'
Sequencing Primer
(F):5'- AACCCAGTGTCTATCTGGTGC -3'
(R):5'- GCAGATGCTACATCACAGAGCTAG -3'
|
Posted On |
2016-07-06 |