Incidental Mutation 'R2386:Hs3st3b1'
| ID |
247704 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hs3st3b1
|
| Ensembl Gene |
ENSMUSG00000070407 |
| Gene Name |
heparan sulfate (glucosamine) 3-O-sulfotransferase 3B1 |
| Synonyms |
3Ost3b, HS3ST3B1, 3-OST-3B, 3OST3B1, m3-OST-3B |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2386 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
63776618-63813116 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 63780039 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 363
(E363*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091647
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094103]
|
| AlphaFold |
Q9QZS6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000094103
AA Change: E363*
|
| SMART Domains |
Protein: ENSMUSP00000091647
Gene: ENSMUSG00000070407
AA Change: E363*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sulfotransfer_3
|
6 |
318 |
1.7e-11 |
PFAM |
|
Pfam:Sulfotransfer_1
|
137 |
383 |
6.3e-48 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 92.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a type II integral membrane protein that belongs to the 3-O-sulfotransferases family. These proteins catalyze the addition of sulfate groups at the 3-OH position of glucosamine in heparan sulfate. The substrate specificity of individual members of the family is based on prior modification of the heparan sulfate chain, thus allowing different members of the family to generate binding sites for different proteins on the same heparan sulfate chain. Following treatment with a histone deacetylase inhibitor, expression of this gene is activated in a pancreatic cell line. The increased expression results in promotion of the epithelial-mesenchymal transition. In addition, the modification catalyzed by this protein allows herpes simplex virus membrane fusion and penetration. A very closely related homolog with an almost identical sulfotransferase domain maps less than 1 Mb away. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700020L24Rik |
A |
G |
11: 83,328,575 (GRCm39) |
D2G |
probably damaging |
Het |
| Btnl9 |
A |
G |
11: 49,069,602 (GRCm39) |
S226P |
probably damaging |
Het |
| Canx |
A |
T |
11: 50,187,933 (GRCm39) |
D558E |
probably benign |
Het |
| Cd248 |
G |
T |
19: 5,119,221 (GRCm39) |
M356I |
possibly damaging |
Het |
| Col1a1 |
A |
T |
11: 94,841,217 (GRCm39) |
D1200V |
unknown |
Het |
| Dgat2 |
A |
C |
7: 98,806,300 (GRCm39) |
V299G |
possibly damaging |
Het |
| Ercc6 |
G |
A |
14: 32,263,316 (GRCm39) |
|
probably null |
Het |
| Fgfr4 |
T |
C |
13: 55,315,714 (GRCm39) |
V747A |
probably benign |
Het |
| Ftcd |
A |
C |
10: 76,417,211 (GRCm39) |
D240A |
probably damaging |
Het |
| Ikbke |
A |
G |
1: 131,187,003 (GRCm39) |
L563P |
probably damaging |
Het |
| Lbhd2 |
A |
T |
12: 111,376,741 (GRCm39) |
T63S |
possibly damaging |
Het |
| Mterf1a |
A |
T |
5: 3,941,225 (GRCm39) |
D214E |
probably benign |
Het |
| Or5p53 |
A |
G |
7: 107,533,480 (GRCm39) |
Y251C |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,815,261 (GRCm39) |
E4511G |
unknown |
Het |
| Pigs |
A |
G |
11: 78,223,812 (GRCm39) |
Y108C |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,391,574 (GRCm39) |
T1547A |
probably benign |
Het |
| Pmepa1 |
G |
A |
2: 173,069,926 (GRCm39) |
R210W |
probably damaging |
Het |
| Rad54b |
T |
A |
4: 11,597,874 (GRCm39) |
M253K |
probably benign |
Het |
| Rrp12 |
T |
C |
19: 41,859,723 (GRCm39) |
D1080G |
probably benign |
Het |
| Sox6 |
A |
G |
7: 115,196,740 (GRCm39) |
Y298H |
probably damaging |
Het |
| Tdrd9 |
A |
T |
12: 111,982,334 (GRCm39) |
D475V |
probably damaging |
Het |
| Tmem131 |
G |
A |
1: 36,868,716 (GRCm39) |
H370Y |
probably benign |
Het |
|
| Other mutations in Hs3st3b1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0723:Hs3st3b1
|
UTSW |
11 |
63,812,401 (GRCm39) |
missense |
probably benign |
|
|
R1940:Hs3st3b1
|
UTSW |
11 |
63,780,569 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4784:Hs3st3b1
|
UTSW |
11 |
63,780,086 (GRCm39) |
missense |
probably benign |
0.21 |
|
R5771:Hs3st3b1
|
UTSW |
11 |
63,780,098 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6102:Hs3st3b1
|
UTSW |
11 |
63,812,681 (GRCm39) |
nonsense |
probably null |
|
|
R6153:Hs3st3b1
|
UTSW |
11 |
63,780,324 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6191:Hs3st3b1
|
UTSW |
11 |
63,780,029 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6525:Hs3st3b1
|
UTSW |
11 |
63,812,424 (GRCm39) |
missense |
probably benign |
|
|
R7282:Hs3st3b1
|
UTSW |
11 |
63,812,397 (GRCm39) |
missense |
probably benign |
|
|
R7960:Hs3st3b1
|
UTSW |
11 |
63,812,694 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8350:Hs3st3b1
|
UTSW |
11 |
63,780,390 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8450:Hs3st3b1
|
UTSW |
11 |
63,780,390 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9381:Hs3st3b1
|
UTSW |
11 |
63,812,692 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9624:Hs3st3b1
|
UTSW |
11 |
63,780,110 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9649:Hs3st3b1
|
UTSW |
11 |
63,812,331 (GRCm39) |
missense |
probably benign |
0.15 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCTGCAGATTGTGGCTAGG -3'
(R):5'- TCATAGACACGTCCTGGAGC -3'
Sequencing Primer
(F):5'- GCTAGGCAGCTTAGTGAATTAATTGC -3'
(R):5'- ATCCAGATCGGCCTGTACG -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation