Incidental Mutation 'R4330:Hs3st5'
| ID |
324569 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hs3st5
|
| Ensembl Gene |
ENSMUSG00000044499 |
| Gene Name |
heparan sulfate (glucosamine) 3-O-sulfotransferase 5 |
| Synonyms |
LOC382362, D930005L05Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4330 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
36382810-36710393 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 36708726 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 87
(V87D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129434
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058738]
[ENSMUST00000167191]
[ENSMUST00000168572]
|
| AlphaFold |
Q8BSL4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058738
AA Change: V87D
PolyPhen 2
Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000060229
Gene: ENSMUSG00000044499
AA Change: V87D
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
32 |
N/A |
INTRINSIC |
|
Pfam:Sulfotransfer_1
|
90 |
339 |
5.5e-38 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167191
AA Change: V87D
PolyPhen 2
Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000130778
Gene: ENSMUSG00000044499
AA Change: V87D
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
32 |
N/A |
INTRINSIC |
|
Pfam:Sulfotransfer_1
|
90 |
339 |
5.5e-38 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168572
AA Change: V87D
PolyPhen 2
Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000129434
Gene: ENSMUSG00000044499
AA Change: V87D
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
32 |
N/A |
INTRINSIC |
|
Pfam:Sulfotransfer_1
|
90 |
339 |
5.5e-38 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] HS3ST5 belongs to a group of heparan sulfate 3-O-sulfotransferases (EC 2.8.2.23) that transfer sulfate from 3-prime-phosphoadenosine 5-prime phosphosulfate (PAPS) to heparan sulfate and heparin (Mochizuki et al., 2003 [PubMed 12740361]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34l |
T |
A |
8: 44,079,287 (GRCm39) |
K312N |
probably benign |
Het |
| Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 117,721,122 (GRCm39) |
|
probably benign |
Het |
| Cdh10 |
G |
A |
15: 19,000,045 (GRCm39) |
V497I |
probably damaging |
Het |
| Chd4 |
T |
C |
6: 125,078,565 (GRCm39) |
V229A |
probably benign |
Het |
| Cnr2 |
T |
A |
4: 135,644,237 (GRCm39) |
I105N |
possibly damaging |
Het |
| Dnai1 |
A |
G |
4: 41,637,966 (GRCm39) |
T701A |
probably damaging |
Het |
| Eri1 |
G |
A |
8: 35,936,383 (GRCm39) |
R313* |
probably null |
Het |
| Hrh3 |
T |
C |
2: 179,741,665 (GRCm39) |
|
probably benign |
Het |
| Jmy |
G |
C |
13: 93,635,390 (GRCm39) |
P142R |
probably damaging |
Het |
| Jmy |
C |
A |
13: 93,635,781 (GRCm39) |
D12Y |
probably damaging |
Het |
| Mfsd4a |
A |
C |
1: 131,981,291 (GRCm39) |
M320R |
possibly damaging |
Het |
| Myocd |
A |
T |
11: 65,114,590 (GRCm39) |
H49Q |
probably benign |
Het |
| Nlk |
A |
G |
11: 78,481,774 (GRCm39) |
I229T |
possibly damaging |
Het |
| Rabl2 |
T |
C |
15: 89,471,137 (GRCm39) |
D66G |
probably benign |
Het |
| Ramp1 |
C |
T |
1: 91,151,067 (GRCm39) |
T144I |
possibly damaging |
Het |
| Rhbdf2 |
T |
C |
11: 116,492,782 (GRCm39) |
K413R |
probably benign |
Het |
| Scpep1 |
G |
A |
11: 88,826,729 (GRCm39) |
Q236* |
probably null |
Het |
| Stil |
A |
G |
4: 114,862,176 (GRCm39) |
R40G |
probably damaging |
Het |
| Syt7 |
T |
C |
19: 10,399,162 (GRCm39) |
V86A |
probably damaging |
Het |
| Ubr2 |
A |
T |
17: 47,278,204 (GRCm39) |
L711Q |
probably null |
Het |
| Vmn1r78 |
T |
A |
7: 11,886,386 (GRCm39) |
|
probably null |
Het |
| Zfp280d |
C |
T |
9: 72,203,261 (GRCm39) |
T3I |
possibly damaging |
Het |
| Zscan25 |
T |
A |
5: 145,227,361 (GRCm39) |
F342I |
probably damaging |
Het |
|
| Other mutations in Hs3st5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00507:Hs3st5
|
APN |
10 |
36,708,918 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL00913:Hs3st5
|
APN |
10 |
36,708,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01407:Hs3st5
|
APN |
10 |
36,709,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01516:Hs3st5
|
APN |
10 |
36,709,047 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02396:Hs3st5
|
APN |
10 |
36,704,699 (GRCm39) |
start codon destroyed |
probably benign |
0.08 |
|
IGL03351:Hs3st5
|
APN |
10 |
36,709,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0606:Hs3st5
|
UTSW |
10 |
36,708,584 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1412:Hs3st5
|
UTSW |
10 |
36,708,672 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1443:Hs3st5
|
UTSW |
10 |
36,709,410 (GRCm39) |
missense |
probably benign |
0.35 |
|
R1493:Hs3st5
|
UTSW |
10 |
36,708,870 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1768:Hs3st5
|
UTSW |
10 |
36,709,165 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1792:Hs3st5
|
UTSW |
10 |
36,708,720 (GRCm39) |
missense |
probably benign |
|
|
R1991:Hs3st5
|
UTSW |
10 |
36,708,882 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1992:Hs3st5
|
UTSW |
10 |
36,708,882 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4610:Hs3st5
|
UTSW |
10 |
36,704,802 (GRCm39) |
missense |
probably benign |
0.26 |
|
R5459:Hs3st5
|
UTSW |
10 |
36,704,742 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5561:Hs3st5
|
UTSW |
10 |
36,709,425 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6005:Hs3st5
|
UTSW |
10 |
36,708,924 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7082:Hs3st5
|
UTSW |
10 |
36,708,833 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7326:Hs3st5
|
UTSW |
10 |
36,709,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7507:Hs3st5
|
UTSW |
10 |
36,709,011 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7885:Hs3st5
|
UTSW |
10 |
36,704,776 (GRCm39) |
nonsense |
probably null |
|
|
R9147:Hs3st5
|
UTSW |
10 |
36,708,917 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9372:Hs3st5
|
UTSW |
10 |
36,708,698 (GRCm39) |
nonsense |
probably null |
|
|
R9497:Hs3st5
|
UTSW |
10 |
36,709,370 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTTCATTTTGAGCCTGGCAC -3'
(R):5'- ATGCCGGGCTCTTTTCAATCG -3'
Sequencing Primer
(F):5'- GTGACAAGTTCTTTCTCTTTTGCTTG -3'
(R):5'- CTCTTTTCAATCGTGATTTGCTGAG -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation