Incidental Mutation 'R9196:Hs3st1'
| ID |
697938 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hs3st1
|
| Ensembl Gene |
ENSMUSG00000051022 |
| Gene Name |
heparan sulfate (glucosamine) 3-O-sulfotransferase 1 |
| Synonyms |
D5Wsu110e, 3-OST |
| MMRRC Submission |
068955-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.136)
|
| Stock # |
R9196 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
39771278-39802935 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 39771962 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 227
(D227V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000051055
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053116]
[ENSMUST00000117944]
[ENSMUST00000137142]
[ENSMUST00000152057]
|
| AlphaFold |
O35310 |
| PDB Structure |
Crystal structure of heparan sulfate 3-O-sulfotransferase isoform 1 in the presence of PAP [X-RAY DIFFRACTION]
Crystal structure of 3-O-sulfotransferase (3-OST-1) with bound PAP and heptasaccharide substrate [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000053116
AA Change: D227V
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000051055
Gene: ENSMUSG00000051022
AA Change: D227V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:Sulfotransfer_1
|
58 |
302 |
5.7e-42 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000117944
AA Change: D227V
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000113919
Gene: ENSMUSG00000051022
AA Change: D227V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:Sulfotransfer_1
|
58 |
302 |
5.7e-42 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137142
|
| SMART Domains |
Protein: ENSMUSP00000114997
Gene: ENSMUSG00000051022
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:Sulfotransfer_1
|
58 |
177 |
3.2e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152057
|
| SMART Domains |
Protein: ENSMUSP00000118060
Gene: ENSMUSG00000051022
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
SCOP:d1fmja_
|
25 |
74 |
1e-5 |
SMART |
|
PDB:1VKJ|C
|
40 |
75 |
6e-12 |
PDB |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
92% (35/38) |
| 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 possesses both heparan sulfate glucosaminyl 3-O-sulfotransferase activity, anticoagulant heparan sulfate conversion activity, and is a rate limiting enzyme for synthesis of anticoagulant heparan. This enzyme is an intraluminal Golgi resident protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in embryonic growth retardation and death between postnatal days 2-3 when bred on a C57BL/6J background. Mice homozygous for this mutation on a 129 background are normal. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb8 |
T |
C |
5: 24,605,644 (GRCm39) |
L176P |
probably benign |
Het |
| Abtb2 |
A |
T |
2: 103,513,647 (GRCm39) |
H352L |
possibly damaging |
Het |
| Adgrf5 |
T |
C |
17: 43,755,995 (GRCm39) |
V651A |
possibly damaging |
Het |
| Cc2d1b |
T |
A |
4: 108,485,134 (GRCm39) |
L519Q |
probably damaging |
Het |
| Celsr1 |
G |
T |
15: 85,917,286 (GRCm39) |
S229* |
probably null |
Het |
| Cenpn |
G |
A |
8: 117,658,344 (GRCm39) |
D97N |
probably damaging |
Het |
| Cfap54 |
A |
G |
10: 92,873,753 (GRCm39) |
C576R |
probably benign |
Het |
| Col8a1 |
A |
T |
16: 57,447,730 (GRCm39) |
D593E |
unknown |
Het |
| Dsel |
C |
T |
1: 111,787,863 (GRCm39) |
E891K |
probably benign |
Het |
| Duox1 |
T |
C |
2: 122,150,689 (GRCm39) |
Y255H |
probably benign |
Het |
| Fzd6 |
C |
A |
15: 38,895,102 (GRCm39) |
L423M |
probably damaging |
Het |
| Fzd6 |
T |
G |
15: 38,895,103 (GRCm39) |
L423R |
probably damaging |
Het |
| Galntl6 |
G |
T |
8: 58,415,461 (GRCm39) |
L231I |
probably damaging |
Het |
| Grm5 |
T |
C |
7: 87,723,518 (GRCm39) |
Y603H |
probably damaging |
Het |
| Hepacam |
A |
T |
9: 37,279,052 (GRCm39) |
Q27L |
probably benign |
Het |
| Hibadh |
C |
T |
6: 52,525,865 (GRCm39) |
V262I |
probably damaging |
Het |
| Inpp1 |
A |
G |
1: 52,833,778 (GRCm39) |
L106P |
probably damaging |
Het |
| Itprid1 |
A |
T |
6: 55,952,613 (GRCm39) |
Q852L |
probably damaging |
Het |
| Jmy |
T |
A |
13: 93,601,209 (GRCm39) |
D399V |
probably damaging |
Het |
| Krt23 |
A |
T |
11: 99,371,855 (GRCm39) |
I332N |
probably benign |
Het |
| Lrrc23 |
T |
C |
6: 124,755,189 (GRCm39) |
K116R |
possibly damaging |
Het |
| Myo10 |
T |
A |
15: 25,805,716 (GRCm39) |
I1699N |
probably damaging |
Het |
| Ndst4 |
C |
T |
3: 125,518,385 (GRCm39) |
S354L |
probably benign |
Het |
| Neto1 |
A |
T |
18: 86,413,965 (GRCm39) |
|
probably benign |
Het |
| Nlrp9a |
T |
A |
7: 26,258,158 (GRCm39) |
L592Q |
probably damaging |
Het |
| Nol10 |
A |
G |
12: 17,455,316 (GRCm39) |
Q439R |
probably benign |
Het |
| Pcbp3 |
A |
G |
10: 76,621,003 (GRCm39) |
S216P |
probably damaging |
Het |
| Pcdhb20 |
T |
A |
18: 37,638,024 (GRCm39) |
H183Q |
probably benign |
Het |
| Reln |
A |
C |
5: 22,357,471 (GRCm39) |
S198R |
probably damaging |
Het |
| Rtn4 |
T |
C |
11: 29,658,471 (GRCm39) |
V875A |
probably benign |
Het |
| Skic2 |
T |
C |
17: 35,068,877 (GRCm39) |
S41G |
probably benign |
Het |
| Sorbs2 |
A |
G |
8: 46,258,864 (GRCm39) |
R1134G |
probably benign |
Het |
| Trpc4 |
A |
G |
3: 54,129,872 (GRCm39) |
S213G |
probably damaging |
Het |
| Unc79 |
A |
G |
12: 103,078,613 (GRCm39) |
I1593V |
probably benign |
Het |
| Uspl1 |
T |
C |
5: 149,151,349 (GRCm39) |
S850P |
probably benign |
Het |
| Xrra1 |
T |
C |
7: 99,563,699 (GRCm39) |
|
probably null |
Het |
| Ythdc2 |
T |
A |
18: 44,988,464 (GRCm39) |
F717L |
probably damaging |
Het |
| Zfp606 |
T |
A |
7: 12,227,935 (GRCm39) |
C685* |
probably null |
Het |
| Zfp764l1 |
T |
C |
7: 126,990,761 (GRCm39) |
T409A |
probably benign |
Het |
|
| Other mutations in Hs3st1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02823:Hs3st1
|
APN |
5 |
39,772,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03162:Hs3st1
|
APN |
5 |
39,771,792 (GRCm39) |
nonsense |
probably null |
|
|
R1105:Hs3st1
|
UTSW |
5 |
39,772,041 (GRCm39) |
unclassified |
probably benign |
|
|
R1539:Hs3st1
|
UTSW |
5 |
39,771,791 (GRCm39) |
missense |
probably benign |
|
|
R1577:Hs3st1
|
UTSW |
5 |
39,772,393 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3857:Hs3st1
|
UTSW |
5 |
39,772,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3858:Hs3st1
|
UTSW |
5 |
39,772,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4730:Hs3st1
|
UTSW |
5 |
39,772,148 (GRCm39) |
nonsense |
probably null |
|
|
R6091:Hs3st1
|
UTSW |
5 |
39,772,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6194:Hs3st1
|
UTSW |
5 |
39,771,748 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6213:Hs3st1
|
UTSW |
5 |
39,771,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6292:Hs3st1
|
UTSW |
5 |
39,772,133 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R7453:Hs3st1
|
UTSW |
5 |
39,772,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8276:Hs3st1
|
UTSW |
5 |
39,772,146 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9324:Hs3st1
|
UTSW |
5 |
39,772,145 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9384:Hs3st1
|
UTSW |
5 |
39,771,962 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTAGTTTGGGATCCACCTGG -3'
(R):5'- TTATCCTGAGGGACCCATCAG -3'
Sequencing Primer
(F):5'- GCCTTTGGACTCGTGTAA -3'
(R):5'- GGTGTTGTACAACCACCTTCAGAAG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation