Incidental Mutation 'IGL02823:Hs3st1'
| ID |
361097 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Hs3st1
|
| Ensembl Gene |
ENSMUSG00000051022 |
| Gene Name |
heparan sulfate (glucosamine) 3-O-sulfotransferase 1 |
| Synonyms |
D5Wsu110e, 3-OST |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.136)
|
| Stock # |
IGL02823
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
39771278-39802935 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 39772100 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 181
(L181P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113919
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053116]
[ENSMUST00000117944]
[ENSMUST00000137142]
[ENSMUST00000152057]
|
| AlphaFold |
O35310 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000053116
AA Change: L181P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000051055
Gene: ENSMUSG00000051022
AA Change: L181P
| 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: L181P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113919
Gene: ENSMUSG00000051022
AA Change: L181P
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200697
|
| 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 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
T |
C |
13: 77,410,074 (GRCm39) |
S194P |
probably damaging |
Het |
| Abca7 |
T |
A |
10: 79,844,656 (GRCm39) |
D1488E |
probably damaging |
Het |
| Abhd18 |
A |
G |
3: 40,887,953 (GRCm39) |
|
probably benign |
Het |
| Atp6ap1l |
A |
G |
13: 91,047,644 (GRCm39) |
V56A |
probably benign |
Het |
| Atrip |
A |
G |
9: 108,890,246 (GRCm39) |
Y631H |
probably damaging |
Het |
| C9orf72 |
A |
T |
4: 35,213,031 (GRCm39) |
C215S |
probably damaging |
Het |
| Dst |
A |
T |
1: 34,231,164 (GRCm39) |
H3097L |
possibly damaging |
Het |
| Ear1 |
G |
T |
14: 44,056,502 (GRCm39) |
S122* |
probably null |
Het |
| Eif2a |
G |
T |
3: 58,456,092 (GRCm39) |
A364S |
probably benign |
Het |
| Eps8l2 |
A |
T |
7: 140,921,988 (GRCm39) |
D22V |
probably damaging |
Het |
| Fndc7 |
A |
G |
3: 108,776,487 (GRCm39) |
F432S |
probably damaging |
Het |
| Gemin5 |
T |
C |
11: 58,058,531 (GRCm39) |
|
probably benign |
Het |
| Grxcr2 |
T |
C |
18: 42,125,046 (GRCm39) |
K121E |
probably damaging |
Het |
| Gucy1a2 |
T |
C |
9: 3,894,656 (GRCm39) |
I713T |
possibly damaging |
Het |
| Ksr1 |
C |
A |
11: 78,912,229 (GRCm39) |
V627L |
probably benign |
Het |
| Lama2 |
T |
C |
10: 26,877,141 (GRCm39) |
N2682D |
probably damaging |
Het |
| Lratd2 |
T |
C |
15: 60,694,972 (GRCm39) |
D258G |
probably damaging |
Het |
| Map3k19 |
G |
T |
1: 127,750,001 (GRCm39) |
H1117N |
probably benign |
Het |
| Mdc1 |
C |
T |
17: 36,163,815 (GRCm39) |
A1121V |
probably damaging |
Het |
| Nlrp1a |
C |
T |
11: 70,983,249 (GRCm39) |
S1239N |
probably damaging |
Het |
| Or2w3 |
T |
C |
11: 58,556,793 (GRCm39) |
M136T |
possibly damaging |
Het |
| Prkra |
G |
T |
2: 76,460,768 (GRCm39) |
A310E |
probably damaging |
Het |
| Prl2c1 |
T |
C |
13: 28,040,416 (GRCm39) |
|
probably benign |
Het |
| Prl7a2 |
T |
C |
13: 27,846,734 (GRCm39) |
Y93C |
possibly damaging |
Het |
| Prob1 |
A |
T |
18: 35,785,800 (GRCm39) |
V818E |
possibly damaging |
Het |
| Rbbp8 |
A |
G |
18: 11,865,270 (GRCm39) |
S720G |
possibly damaging |
Het |
| Rexo4 |
T |
C |
2: 26,852,489 (GRCm39) |
T149A |
probably benign |
Het |
| Slc39a2 |
T |
A |
14: 52,132,869 (GRCm39) |
Y271N |
probably damaging |
Het |
| Sprr2d |
T |
A |
3: 92,247,734 (GRCm39) |
C58* |
probably null |
Het |
| Srebf2 |
G |
A |
15: 82,083,975 (GRCm39) |
G965D |
possibly damaging |
Het |
| Tcof1 |
T |
C |
18: 60,949,120 (GRCm39) |
E1265G |
probably benign |
Het |
| Terf2 |
T |
C |
8: 107,799,257 (GRCm39) |
N389S |
possibly damaging |
Het |
| Vsig10l |
T |
C |
7: 43,115,888 (GRCm39) |
S410P |
probably damaging |
Het |
| Vwa3b |
A |
T |
1: 37,225,985 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Hs3st1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2015-12-18 |
Incidental Mutation