Incidental Mutation 'IGL03078:Hs3st4'
| ID |
417757 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Hs3st4
|
| Ensembl Gene |
ENSMUSG00000078591 |
| Gene Name |
heparan sulfate (glucosamine) 3-O-sulfotransferase 4 |
| Synonyms |
Gm6915 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
IGL03078
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
123582092-123998212 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 123996669 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 445
(E445G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102045
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106437]
|
| AlphaFold |
D3YVV6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106437
AA Change: E445G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000102045
Gene: ENSMUSG00000078591
AA Change: E445G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
24 |
N/A |
INTRINSIC |
|
low complexity region
|
52 |
60 |
N/A |
INTRINSIC |
|
low complexity region
|
68 |
94 |
N/A |
INTRINSIC |
|
low complexity region
|
106 |
112 |
N/A |
INTRINSIC |
|
low complexity region
|
158 |
171 |
N/A |
INTRINSIC |
|
Pfam:Sulfotransfer_1
|
190 |
439 |
6.4e-46 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the enzyme heparan sulfate D-glucosaminyl 3-O-sulfotransferase 4. This enzyme generates 3-O-sulfated glucosaminyl residues in heparan sulfate. Cell surface heparan sulfate is used as a receptor by herpes simplex virus type 1 (HSV-1), and expression of this gene is thought to play a role in HSV-1 pathogenesis. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
T |
A |
11: 110,167,371 (GRCm39) |
K1482* |
probably null |
Het |
| Abtb3 |
C |
T |
10: 85,468,027 (GRCm39) |
A774V |
probably damaging |
Het |
| Adam15 |
A |
G |
3: 89,253,244 (GRCm39) |
|
probably benign |
Het |
| Adamdec1 |
C |
T |
14: 68,806,299 (GRCm39) |
R392H |
possibly damaging |
Het |
| Anxa7 |
T |
C |
14: 20,506,624 (GRCm39) |
K439E |
probably damaging |
Het |
| Arap2 |
T |
A |
5: 62,890,408 (GRCm39) |
|
probably benign |
Het |
| Asic5 |
A |
G |
3: 81,921,735 (GRCm39) |
E367G |
possibly damaging |
Het |
| Cubn |
T |
C |
2: 13,291,905 (GRCm39) |
T3307A |
possibly damaging |
Het |
| Dnd1 |
T |
C |
18: 36,899,197 (GRCm39) |
E8G |
probably damaging |
Het |
| Eif2ak1 |
T |
C |
5: 143,810,587 (GRCm39) |
I99T |
probably benign |
Het |
| Fras1 |
C |
T |
5: 96,783,994 (GRCm39) |
R833C |
probably damaging |
Het |
| Hectd1 |
A |
G |
12: 51,849,019 (GRCm39) |
S362P |
probably damaging |
Het |
| Kcnh1 |
A |
G |
1: 192,117,108 (GRCm39) |
T21A |
probably damaging |
Het |
| Kif26b |
G |
A |
1: 178,698,291 (GRCm39) |
R594H |
probably damaging |
Het |
| Lsm14b |
T |
C |
2: 179,668,521 (GRCm39) |
I74T |
probably damaging |
Het |
| Myh2 |
T |
A |
11: 67,081,256 (GRCm39) |
S1291T |
probably benign |
Het |
| Myo3b |
T |
A |
2: 70,117,335 (GRCm39) |
F923I |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,969,624 (GRCm39) |
|
probably null |
Het |
| Or51f1d |
T |
C |
7: 102,701,036 (GRCm39) |
F177S |
probably damaging |
Het |
| Or8b53 |
C |
T |
9: 38,667,541 (GRCm39) |
Q186* |
probably null |
Het |
| Piezo2 |
A |
C |
18: 63,203,146 (GRCm39) |
M1484R |
probably damaging |
Het |
| Rhoh |
T |
A |
5: 66,050,231 (GRCm39) |
V167D |
probably damaging |
Het |
| Rspo3 |
T |
C |
10: 29,380,657 (GRCm39) |
Y119C |
probably damaging |
Het |
| Scpep1 |
T |
A |
11: 88,826,657 (GRCm39) |
I260F |
possibly damaging |
Het |
| Slc15a3 |
T |
A |
19: 10,834,609 (GRCm39) |
F497I |
probably damaging |
Het |
| Stom |
T |
C |
2: 35,205,941 (GRCm39) |
K263E |
probably damaging |
Het |
| Taf4b |
C |
A |
18: 14,946,611 (GRCm39) |
A478E |
possibly damaging |
Het |
| Ttn |
C |
T |
2: 76,600,594 (GRCm39) |
|
probably benign |
Het |
| Wdr95 |
C |
T |
5: 149,535,062 (GRCm39) |
A598V |
possibly damaging |
Het |
|
| Other mutations in Hs3st4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01878:Hs3st4
|
APN |
7 |
123,996,536 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0138:Hs3st4
|
UTSW |
7 |
123,996,416 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1697:Hs3st4
|
UTSW |
7 |
123,996,080 (GRCm39) |
missense |
probably benign |
|
|
R2063:Hs3st4
|
UTSW |
7 |
123,996,236 (GRCm39) |
missense |
probably benign |
0.42 |
|
R4891:Hs3st4
|
UTSW |
7 |
123,996,052 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R4922:Hs3st4
|
UTSW |
7 |
123,996,410 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5084:Hs3st4
|
UTSW |
7 |
123,996,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5606:Hs3st4
|
UTSW |
7 |
123,996,365 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5736:Hs3st4
|
UTSW |
7 |
123,996,662 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5859:Hs3st4
|
UTSW |
7 |
123,582,831 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6861:Hs3st4
|
UTSW |
7 |
123,996,052 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R7429:Hs3st4
|
UTSW |
7 |
123,996,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7431:Hs3st4
|
UTSW |
7 |
123,582,513 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7472:Hs3st4
|
UTSW |
7 |
123,996,249 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9051:Hs3st4
|
UTSW |
7 |
123,582,680 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9272:Hs3st4
|
UTSW |
7 |
123,582,749 (GRCm39) |
missense |
probably benign |
|
|
Z1190:Hs3st4
|
UTSW |
7 |
123,996,476 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation