Incidental Mutation 'R3857:Hs3st1'
| ID |
276207 |
| 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 |
040785-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.136)
|
| Stock # |
R3857 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
39771278-39802935 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 39772256 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 129
(T129I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114997
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053116]
[ENSMUST00000117944]
[ENSMUST00000137142]
[ENSMUST00000152057]
|
| AlphaFold |
O35310 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000053116
AA Change: T129I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000051055
Gene: ENSMUSG00000051022
AA Change: T129I
| 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: T129I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113919
Gene: ENSMUSG00000051022
AA Change: T129I
| 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: ENSMUST00000137142
AA Change: T129I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114997
Gene: ENSMUSG00000051022
AA Change: T129I
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200697
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.6%
- 10x: 96.7%
- 20x: 92.4%
|
| Validation Efficiency |
98% (41/42) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bdkrb2 |
T |
C |
12: 105,558,698 (GRCm39) |
V313A |
probably benign |
Het |
| Ccng1 |
A |
G |
11: 40,644,660 (GRCm39) |
L79P |
probably damaging |
Het |
| Celf1 |
A |
G |
2: 90,843,086 (GRCm39) |
E411G |
probably damaging |
Het |
| Cps1 |
A |
G |
1: 67,207,437 (GRCm39) |
Y582C |
probably damaging |
Het |
| Dnah8 |
A |
G |
17: 30,882,396 (GRCm39) |
D656G |
probably damaging |
Het |
| Eif1ad17 |
T |
A |
12: 87,979,016 (GRCm39) |
D133E |
unknown |
Het |
| Erc2 |
A |
G |
14: 28,197,599 (GRCm39) |
|
probably benign |
Het |
| Ercc8 |
A |
G |
13: 108,330,648 (GRCm39) |
E395G |
possibly damaging |
Het |
| Ezhip |
A |
G |
X: 5,994,710 (GRCm39) |
S102P |
possibly damaging |
Het |
| F13a1 |
A |
G |
13: 37,209,668 (GRCm39) |
L99P |
probably benign |
Het |
| Fzd3 |
A |
T |
14: 65,477,288 (GRCm39) |
C89S |
possibly damaging |
Het |
| Gse1 |
T |
A |
8: 121,297,872 (GRCm39) |
|
probably benign |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Irx1 |
A |
T |
13: 72,111,577 (GRCm39) |
Y11N |
possibly damaging |
Het |
| Kdm3b |
T |
A |
18: 34,966,440 (GRCm39) |
I1658N |
probably benign |
Het |
| Mtmr4 |
G |
A |
11: 87,488,088 (GRCm39) |
V24M |
probably damaging |
Het |
| Nfatc1 |
T |
C |
18: 80,708,490 (GRCm39) |
|
probably benign |
Het |
| Obscn |
A |
G |
11: 58,971,795 (GRCm39) |
|
probably benign |
Het |
| Pcna |
A |
T |
2: 132,091,541 (GRCm39) |
S261T |
probably benign |
Het |
| Pigr |
T |
C |
1: 130,774,998 (GRCm39) |
V475A |
probably benign |
Het |
| Pitpnc1 |
T |
C |
11: 107,211,631 (GRCm39) |
|
probably null |
Het |
| Psph |
A |
G |
5: 129,848,540 (GRCm39) |
M47T |
probably damaging |
Het |
| Pth2r |
A |
T |
1: 65,361,206 (GRCm39) |
I52F |
probably damaging |
Het |
| Rtn4rl2 |
A |
G |
2: 84,710,730 (GRCm39) |
|
probably null |
Het |
| Senp6 |
A |
G |
9: 79,999,603 (GRCm39) |
T7A |
possibly damaging |
Het |
| Slc4a1 |
A |
T |
11: 102,247,947 (GRCm39) |
V349E |
probably benign |
Het |
| Spice1 |
T |
C |
16: 44,175,806 (GRCm39) |
S2P |
probably damaging |
Het |
| Spty2d1 |
G |
A |
7: 46,648,044 (GRCm39) |
T295I |
probably benign |
Het |
| Thsd7a |
C |
T |
6: 12,555,225 (GRCm39) |
G220S |
probably benign |
Het |
| Togaram1 |
A |
G |
12: 65,027,633 (GRCm39) |
Q874R |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,739,319 (GRCm39) |
D3740V |
probably benign |
Het |
| Unc13c |
G |
T |
9: 73,606,390 (GRCm39) |
Y1323* |
probably null |
Het |
| Vmn1r19 |
A |
T |
6: 57,382,098 (GRCm39) |
Y217F |
possibly damaging |
Het |
| Zfp101 |
G |
T |
17: 33,601,405 (GRCm39) |
S79* |
probably null |
Het |
| Zfp512 |
G |
T |
5: 31,630,184 (GRCm39) |
R222L |
probably damaging |
Het |
| Zfyve16 |
A |
T |
13: 92,631,479 (GRCm39) |
I1372N |
probably damaging |
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 |
|
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 |
|
R9196:Hs3st1
|
UTSW |
5 |
39,771,962 (GRCm39) |
missense |
probably damaging |
0.96 |
|
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'- TGAGAGCCTTGTAGTCCAGG -3'
(R):5'- TCATCATTGGGGTGCGCAAG -3'
Sequencing Primer
(F):5'- TTGTAGTCCAGGTTCAGCCGAC -3'
(R):5'- TGCGCAAGGGTGGTACC -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation