Incidental Mutation 'IGL00913:Hs3st5'
| ID |
28319 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL00913
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
36382810-36710393 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 36708846 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 127
(D127G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129434
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058738]
[ENSMUST00000167191]
[ENSMUST00000168572]
|
| AlphaFold |
Q8BSL4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000058738
AA Change: D127G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000060229
Gene: ENSMUSG00000044499
AA Change: D127G
| 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 damaging
Transcript: ENSMUST00000167191
AA Change: D127G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130778
Gene: ENSMUSG00000044499
AA Change: D127G
| 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 damaging
Transcript: ENSMUST00000168572
AA Change: D127G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000129434
Gene: ENSMUSG00000044499
AA Change: D127G
| 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 |
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf4 |
A |
G |
17: 42,977,793 (GRCm39) |
S517P |
possibly damaging |
Het |
| Arl4c |
T |
C |
1: 88,629,106 (GRCm39) |
D94G |
probably damaging |
Het |
| Bag5 |
T |
C |
12: 111,677,766 (GRCm39) |
E19G |
probably damaging |
Het |
| Carf |
T |
A |
1: 60,187,114 (GRCm39) |
D537E |
probably benign |
Het |
| Cd177 |
C |
A |
7: 24,455,620 (GRCm39) |
D301Y |
probably damaging |
Het |
| Csmd1 |
C |
T |
8: 16,121,301 (GRCm39) |
V1799I |
probably benign |
Het |
| Cyp4x1 |
T |
A |
4: 114,970,060 (GRCm39) |
I356F |
probably benign |
Het |
| F5 |
A |
T |
1: 164,032,465 (GRCm39) |
H1804L |
probably damaging |
Het |
| Fras1 |
G |
T |
5: 96,842,935 (GRCm39) |
G1718C |
probably damaging |
Het |
| Ganc |
T |
C |
2: 120,269,933 (GRCm39) |
|
probably benign |
Het |
| Inpp5a |
A |
G |
7: 139,096,637 (GRCm39) |
D154G |
probably benign |
Het |
| Kif16b |
T |
A |
2: 142,545,927 (GRCm39) |
R1134* |
probably null |
Het |
| Lrrc66 |
C |
T |
5: 73,765,499 (GRCm39) |
A515T |
possibly damaging |
Het |
| Map3k10 |
C |
T |
7: 27,362,640 (GRCm39) |
|
probably benign |
Het |
| Mideas |
T |
A |
12: 84,219,632 (GRCm39) |
I441L |
probably benign |
Het |
| Mrpl12 |
G |
A |
11: 120,376,202 (GRCm39) |
D71N |
possibly damaging |
Het |
| Nfix |
A |
T |
8: 85,453,106 (GRCm39) |
V316E |
probably damaging |
Het |
| Nop2 |
A |
G |
6: 125,116,784 (GRCm39) |
Y346C |
probably damaging |
Het |
| Nrbp1 |
A |
G |
5: 31,408,403 (GRCm39) |
E513G |
possibly damaging |
Het |
| Ogfrl1 |
T |
C |
1: 23,409,171 (GRCm39) |
I352V |
probably benign |
Het |
| Or7a35 |
A |
G |
10: 78,854,085 (GRCm39) |
T310A |
probably benign |
Het |
| Or8b48 |
T |
A |
9: 38,492,672 (GRCm39) |
V33E |
probably damaging |
Het |
| Oxr1 |
G |
A |
15: 41,683,539 (GRCm39) |
V15I |
possibly damaging |
Het |
| Pik3r6 |
T |
G |
11: 68,442,147 (GRCm39) |
F697C |
probably damaging |
Het |
| Ptk2 |
A |
G |
15: 73,167,238 (GRCm39) |
|
probably benign |
Het |
| Rnft2 |
G |
A |
5: 118,339,280 (GRCm39) |
T380M |
probably damaging |
Het |
| Scel |
A |
G |
14: 103,819,245 (GRCm39) |
N346S |
probably benign |
Het |
| Sema4a |
T |
A |
3: 88,357,117 (GRCm39) |
T153S |
probably damaging |
Het |
| Serinc2 |
A |
T |
4: 130,158,201 (GRCm39) |
L82Q |
possibly damaging |
Het |
| Sin3a |
A |
G |
9: 57,005,402 (GRCm39) |
T392A |
probably benign |
Het |
| Slc25a38 |
T |
A |
9: 119,949,373 (GRCm39) |
Y108* |
probably null |
Het |
| Tmc8 |
G |
A |
11: 117,677,330 (GRCm39) |
G317R |
probably damaging |
Het |
| Trpc3 |
A |
G |
3: 36,694,788 (GRCm39) |
V722A |
possibly damaging |
Het |
| Unc93a2 |
A |
T |
17: 7,637,138 (GRCm39) |
V130D |
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 |
|
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 |
|
R4330:Hs3st5
|
UTSW |
10 |
36,708,726 (GRCm39) |
missense |
probably benign |
0.06 |
|
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 |
|
| Posted On |
2013-04-17 |
Incidental Mutation