Incidental Mutation 'IGL00973:Hs6st3'
| ID |
28989 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Hs6st3
|
| Ensembl Gene |
ENSMUSG00000053465 |
| Gene Name |
heparan sulfate 6-O-sulfotransferase 3 |
| Synonyms |
6OST3 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.480)
|
| Stock # |
IGL00973
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
119375753-120107227 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 120106819 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 409
(Y409F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070394
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065904]
|
| AlphaFold |
Q9QYK4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000065904
AA Change: Y409F
PolyPhen 2
Score 0.583 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000070394
Gene: ENSMUSG00000053465
AA Change: Y409F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
low complexity region
|
46 |
61 |
N/A |
INTRINSIC |
|
low complexity region
|
67 |
84 |
N/A |
INTRINSIC |
|
low complexity region
|
86 |
115 |
N/A |
INTRINSIC |
|
Pfam:Sulfotransfer_2
|
137 |
410 |
4.7e-83 |
PFAM |
|
low complexity region
|
425 |
447 |
N/A |
INTRINSIC |
|
| 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 (HS) sulfotransferases, such as HS6ST3, modify HS to generate structures required for interactions between HS and a variety of proteins. These interactions are implicated in proliferation and differentiation, adhesion, migration, inflammation, blood coagulation, and other diverse processes (Habuchi et al., 2000 [PubMed 10644753]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp10a |
G |
T |
7: 58,457,218 (GRCm39) |
D906Y |
probably damaging |
Het |
| Cdh18 |
A |
G |
15: 23,173,882 (GRCm39) |
K32R |
probably damaging |
Het |
| Chtf18 |
G |
A |
17: 25,941,090 (GRCm39) |
A636V |
probably benign |
Het |
| Clcn6 |
A |
G |
4: 148,098,245 (GRCm39) |
|
probably benign |
Het |
| Dspp |
A |
C |
5: 104,324,758 (GRCm39) |
K374Q |
possibly damaging |
Het |
| Ehmt2 |
C |
T |
17: 35,129,791 (GRCm39) |
R962C |
probably damaging |
Het |
| Frrs1l |
T |
C |
4: 56,972,369 (GRCm39) |
K111E |
probably damaging |
Het |
| Galnt5 |
A |
G |
2: 57,888,951 (GRCm39) |
T184A |
probably benign |
Het |
| Glud1 |
C |
T |
14: 34,041,899 (GRCm39) |
T169I |
probably damaging |
Het |
| Hinfp |
T |
G |
9: 44,209,436 (GRCm39) |
D283A |
probably benign |
Het |
| Hmcn2 |
C |
T |
2: 31,273,833 (GRCm39) |
|
probably benign |
Het |
| Ighv15-2 |
A |
T |
12: 114,528,490 (GRCm39) |
V20D |
possibly damaging |
Het |
| Kif17 |
A |
G |
4: 138,002,368 (GRCm39) |
T91A |
probably benign |
Het |
| Mical3 |
T |
C |
6: 120,911,885 (GRCm39) |
|
probably benign |
Het |
| Myo1e |
C |
T |
9: 70,246,069 (GRCm39) |
T420M |
probably damaging |
Het |
| Or8b12c |
C |
A |
9: 37,716,078 (GRCm39) |
S290R |
probably damaging |
Het |
| Ovgp1 |
T |
A |
3: 105,888,593 (GRCm39) |
Y316* |
probably null |
Het |
| Plekha1 |
T |
A |
7: 130,512,743 (GRCm39) |
V313D |
probably damaging |
Het |
| Polr1e |
C |
A |
4: 45,031,364 (GRCm39) |
|
probably benign |
Het |
| Prdm15 |
A |
T |
16: 97,607,367 (GRCm39) |
|
probably benign |
Het |
| Ptpn4 |
T |
A |
1: 119,669,101 (GRCm39) |
M250L |
probably benign |
Het |
| Rtn1 |
A |
T |
12: 72,455,285 (GRCm39) |
L14Q |
probably benign |
Het |
| Sec24a |
T |
C |
11: 51,620,404 (GRCm39) |
|
probably null |
Het |
| Sox7 |
A |
G |
14: 64,185,636 (GRCm39) |
H224R |
probably benign |
Het |
| Styxl2 |
T |
C |
1: 165,927,027 (GRCm39) |
S862G |
probably benign |
Het |
| Sucla2 |
T |
C |
14: 73,828,347 (GRCm39) |
I318T |
possibly damaging |
Het |
| Tubb4b-ps1 |
A |
G |
5: 7,229,408 (GRCm39) |
|
probably benign |
Het |
| Ube2o |
T |
A |
11: 116,432,031 (GRCm39) |
K940M |
probably damaging |
Het |
| Usp20 |
A |
C |
2: 30,894,962 (GRCm39) |
N149T |
probably damaging |
Het |
| Utp6 |
C |
T |
11: 79,846,531 (GRCm39) |
W150* |
probably null |
Het |
| Wdr27 |
A |
C |
17: 15,134,140 (GRCm39) |
H475Q |
probably benign |
Het |
|
| Other mutations in Hs6st3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00909:Hs6st3
|
APN |
14 |
119,376,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02185:Hs6st3
|
APN |
14 |
120,106,296 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02696:Hs6st3
|
APN |
14 |
120,106,731 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02820:Hs6st3
|
APN |
14 |
119,376,492 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0241:Hs6st3
|
UTSW |
14 |
119,376,232 (GRCm39) |
missense |
probably benign |
0.32 |
|
R0241:Hs6st3
|
UTSW |
14 |
119,376,232 (GRCm39) |
missense |
probably benign |
0.32 |
|
R0634:Hs6st3
|
UTSW |
14 |
120,106,474 (GRCm39) |
nonsense |
probably null |
|
|
R0737:Hs6st3
|
UTSW |
14 |
120,106,795 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R0750:Hs6st3
|
UTSW |
14 |
119,376,119 (GRCm39) |
small deletion |
probably benign |
|
|
R1975:Hs6st3
|
UTSW |
14 |
119,375,888 (GRCm39) |
missense |
probably benign |
0.33 |
|
R1977:Hs6st3
|
UTSW |
14 |
119,375,888 (GRCm39) |
missense |
probably benign |
0.33 |
|
R2025:Hs6st3
|
UTSW |
14 |
120,106,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2116:Hs6st3
|
UTSW |
14 |
120,106,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2295:Hs6st3
|
UTSW |
14 |
119,375,857 (GRCm39) |
missense |
probably benign |
0.15 |
|
R3154:Hs6st3
|
UTSW |
14 |
120,106,389 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5700:Hs6st3
|
UTSW |
14 |
119,376,199 (GRCm39) |
nonsense |
probably null |
|
|
R5744:Hs6st3
|
UTSW |
14 |
119,375,852 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R5852:Hs6st3
|
UTSW |
14 |
120,106,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5861:Hs6st3
|
UTSW |
14 |
119,376,265 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6262:Hs6st3
|
UTSW |
14 |
119,376,403 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6408:Hs6st3
|
UTSW |
14 |
119,376,046 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7140:Hs6st3
|
UTSW |
14 |
119,376,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7598:Hs6st3
|
UTSW |
14 |
120,106,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7954:Hs6st3
|
UTSW |
14 |
120,106,522 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8026:Hs6st3
|
UTSW |
14 |
120,106,968 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9471:Hs6st3
|
UTSW |
14 |
119,376,235 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9746:Hs6st3
|
UTSW |
14 |
120,106,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9773:Hs6st3
|
UTSW |
14 |
120,106,948 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2013-04-17 |
Incidental Mutation