Incidental Mutation 'IGL01904:Hs3st2'
| ID |
179621 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Hs3st2
|
| Ensembl Gene |
ENSMUSG00000046321 |
| Gene Name |
heparan sulfate (glucosamine) 3-O-sulfotransferase 2 |
| Synonyms |
6430516N12Rik, A830061E14Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01904
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
120991082-121100993 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 121100207 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 351
(P351L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081678
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084628]
|
| AlphaFold |
Q673U1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000084628
AA Change: P351L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000081678
Gene: ENSMUSG00000046321
AA Change: P351L
| 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 |
|
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Dnah5 |
T |
C |
15: 28,307,510 (GRCm39) |
I1746T |
probably benign |
Het |
| Eml3 |
T |
C |
19: 8,914,130 (GRCm39) |
|
probably benign |
Het |
| Eml6 |
C |
A |
11: 29,788,613 (GRCm39) |
E491* |
probably null |
Het |
| Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Igf2r |
A |
T |
17: 12,933,798 (GRCm39) |
Y819N |
probably damaging |
Het |
| Kifc3 |
C |
A |
8: 95,864,585 (GRCm39) |
A42S |
possibly damaging |
Het |
| Mrps17 |
A |
G |
5: 129,793,865 (GRCm39) |
T20A |
probably damaging |
Het |
| Msh6 |
T |
C |
17: 88,292,160 (GRCm39) |
V305A |
probably benign |
Het |
| Or6b1 |
T |
C |
6: 42,815,223 (GRCm39) |
M136T |
possibly damaging |
Het |
| Or7e176 |
T |
G |
9: 20,171,586 (GRCm39) |
M150R |
probably damaging |
Het |
| Pappa2 |
A |
G |
1: 158,611,511 (GRCm39) |
L1484P |
probably damaging |
Het |
| Polr3c |
A |
T |
3: 96,623,981 (GRCm39) |
|
probably null |
Het |
| Ros1 |
C |
A |
10: 51,954,007 (GRCm39) |
E1877D |
probably damaging |
Het |
| Slc5a4b |
T |
C |
10: 75,896,260 (GRCm39) |
N565S |
probably damaging |
Het |
| Slf2 |
T |
C |
19: 44,937,580 (GRCm39) |
|
probably null |
Het |
| Speer1m |
A |
C |
5: 11,971,423 (GRCm39) |
N125T |
probably benign |
Het |
| Suclg2 |
A |
T |
6: 95,565,915 (GRCm39) |
|
probably benign |
Het |
| Sult2a8 |
T |
C |
7: 14,159,382 (GRCm39) |
E79G |
probably damaging |
Het |
| Triobp |
A |
G |
15: 78,851,564 (GRCm39) |
T573A |
possibly damaging |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Zfand5 |
C |
T |
19: 21,257,122 (GRCm39) |
|
probably benign |
Het |
| Zfhx4 |
C |
A |
3: 5,477,769 (GRCm39) |
H3461Q |
probably damaging |
Het |
|
| Other mutations in Hs3st2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R6016:Hs3st2
|
UTSW |
7 |
121,099,922 (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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation