Incidental Mutation 'R6016:Hs3st2'
ID |
478604 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hs3st2
|
Ensembl Gene |
ENSMUSG00000046321 |
Gene Name |
heparan sulfate (glucosamine) 3-O-sulfotransferase 2 |
Synonyms |
6430516N12Rik, A830061E14Rik |
MMRRC Submission |
043255-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6016 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
120991082-121100993 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 121099922 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 256
(H256R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000081678
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084628]
|
AlphaFold |
Q673U1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000084628
AA Change: H256R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000081678 Gene: ENSMUSG00000046321 AA Change: H256R
Domain | Start | End | E-Value | Type |
transmembrane domain
|
20 |
39 |
N/A |
INTRINSIC |
Pfam:Sulfotransfer_3
|
47 |
295 |
2e-9 |
PFAM |
Pfam:Sulfotransfer_1
|
114 |
362 |
3.1e-49 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205739
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.0%
- 20x: 90.5%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry out multiple biologic activities. The enzyme encoded by this gene is a member of the heparan sulfate biosynthetic enzyme family. It is a type II integral membrane protein and possesses heparan sulfate glucosaminyl 3-O-sulfotransferase activity. This gene is expressed predominantly in brain and may play a role in the nervous system. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a targeted allele exhibit no abnormal phenotype. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Apol9b |
T |
C |
15: 77,620,058 (GRCm39) |
S285P |
probably damaging |
Het |
Casz1 |
C |
A |
4: 149,019,041 (GRCm39) |
N447K |
probably damaging |
Het |
Cltb |
T |
C |
13: 54,754,480 (GRCm39) |
T71A |
possibly damaging |
Het |
Dcaf12 |
A |
G |
4: 41,313,267 (GRCm39) |
F93L |
probably damaging |
Het |
Dnah5 |
T |
C |
15: 28,328,030 (GRCm39) |
Y2135H |
probably damaging |
Het |
Entpd2 |
C |
T |
2: 25,288,568 (GRCm39) |
R191W |
probably damaging |
Het |
Gm17067 |
G |
T |
7: 42,357,654 (GRCm39) |
P283T |
probably benign |
Het |
Gm3250 |
A |
G |
10: 77,618,367 (GRCm39) |
|
probably benign |
Het |
Gne |
T |
C |
4: 44,039,063 (GRCm39) |
E532G |
probably damaging |
Het |
Gsdmc3 |
T |
G |
15: 63,740,261 (GRCm39) |
D86A |
probably benign |
Het |
Il19 |
T |
A |
1: 130,863,718 (GRCm39) |
D16V |
probably damaging |
Het |
Lats2 |
A |
T |
14: 57,971,632 (GRCm39) |
N14K |
probably damaging |
Het |
Mill2 |
G |
T |
7: 18,590,373 (GRCm39) |
S151I |
probably benign |
Het |
Ncapg2 |
G |
A |
12: 116,390,227 (GRCm39) |
R392H |
probably damaging |
Het |
Nop56 |
T |
C |
2: 130,118,545 (GRCm39) |
|
probably null |
Het |
Or14j8 |
A |
T |
17: 38,262,967 (GRCm39) |
V316D |
probably benign |
Het |
Or2bd2 |
A |
T |
7: 6,443,613 (GRCm39) |
H238L |
probably benign |
Het |
Or5p5 |
A |
T |
7: 107,414,219 (GRCm39) |
I143F |
probably benign |
Het |
Pde1a |
T |
C |
2: 79,695,406 (GRCm39) |
R446G |
probably benign |
Het |
Pes1 |
T |
A |
11: 3,928,004 (GRCm39) |
M552K |
possibly damaging |
Het |
Plxnb2 |
T |
A |
15: 89,045,225 (GRCm39) |
T1074S |
possibly damaging |
Het |
Psg23 |
G |
T |
7: 18,346,112 (GRCm39) |
H194Q |
probably benign |
Het |
Rprd2 |
A |
G |
3: 95,694,685 (GRCm39) |
V116A |
probably damaging |
Het |
Shkbp1 |
A |
G |
7: 27,053,826 (GRCm39) |
V124A |
possibly damaging |
Het |
Slc38a8 |
A |
T |
8: 120,221,044 (GRCm39) |
|
probably null |
Het |
Slitrk6 |
A |
G |
14: 110,987,958 (GRCm39) |
V583A |
probably benign |
Het |
Sptbn5 |
G |
T |
2: 119,880,573 (GRCm39) |
|
noncoding transcript |
Het |
Stab1 |
A |
T |
14: 30,880,950 (GRCm39) |
I614N |
probably damaging |
Het |
Tgm6 |
A |
G |
2: 129,983,148 (GRCm39) |
T246A |
probably damaging |
Het |
Tnks1bp1 |
T |
C |
2: 84,882,734 (GRCm39) |
L187P |
probably damaging |
Het |
Vmn1r157 |
A |
G |
7: 22,461,272 (GRCm39) |
R51G |
possibly damaging |
Het |
Vmn2r68 |
A |
T |
7: 84,871,453 (GRCm39) |
I610K |
probably damaging |
Het |
|
Other mutations in Hs3st2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01904:Hs3st2
|
APN |
7 |
121,100,207 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03356:Hs3st2
|
APN |
7 |
120,992,389 (GRCm39) |
missense |
probably damaging |
1.00 |
R0469:Hs3st2
|
UTSW |
7 |
121,099,792 (GRCm39) |
missense |
probably damaging |
1.00 |
R0510:Hs3st2
|
UTSW |
7 |
121,099,792 (GRCm39) |
missense |
probably damaging |
1.00 |
R0849:Hs3st2
|
UTSW |
7 |
121,100,255 (GRCm39) |
missense |
possibly damaging |
0.89 |
R3001:Hs3st2
|
UTSW |
7 |
121,099,910 (GRCm39) |
missense |
probably damaging |
0.97 |
R3002:Hs3st2
|
UTSW |
7 |
121,099,910 (GRCm39) |
missense |
probably damaging |
0.97 |
R4056:Hs3st2
|
UTSW |
7 |
121,099,925 (GRCm39) |
missense |
probably damaging |
1.00 |
R4997:Hs3st2
|
UTSW |
7 |
121,099,679 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5705:Hs3st2
|
UTSW |
7 |
120,992,305 (GRCm39) |
missense |
probably damaging |
1.00 |
R6821:Hs3st2
|
UTSW |
7 |
121,099,745 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7404:Hs3st2
|
UTSW |
7 |
121,100,168 (GRCm39) |
missense |
possibly damaging |
0.67 |
R8018:Hs3st2
|
UTSW |
7 |
121,099,639 (GRCm39) |
critical splice acceptor site |
probably null |
|
R8111:Hs3st2
|
UTSW |
7 |
120,992,362 (GRCm39) |
missense |
probably damaging |
1.00 |
R8118:Hs3st2
|
UTSW |
7 |
120,996,651 (GRCm39) |
missense |
probably benign |
0.07 |
R8949:Hs3st2
|
UTSW |
7 |
121,100,017 (GRCm39) |
missense |
probably benign |
|
R9447:Hs3st2
|
UTSW |
7 |
120,992,289 (GRCm39) |
missense |
probably damaging |
1.00 |
X0067:Hs3st2
|
UTSW |
7 |
121,099,759 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Predicted Primers |
PCR Primer
(F):5'- ACCAAGCTGATAGTGGTGGTG -3'
(R):5'- CGATCTGTACATGAGTTCTCCC -3'
Sequencing Primer
(F):5'- TGCGGAACCCAGTGACC -3'
(R):5'- AGGCAGGAGGGTTGACTCTG -3'
|
Posted On |
2017-06-26 |