Incidental Mutation 'IGL02730:Hs6st1'
| ID |
305422 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Hs6st1
|
| Ensembl Gene |
ENSMUSG00000045216 |
| Gene Name |
heparan sulfate 6-O-sulfotransferase 1 |
| Synonyms |
6OST1 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.862)
|
| Stock # |
IGL02730
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
36107481-36145527 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 36142709 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 215
(T215A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000085499
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088174]
|
| AlphaFold |
Q9QYK5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000088174
AA Change: T215A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000085499
Gene: ENSMUSG00000045216
AA Change: T215A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
37 |
N/A |
INTRINSIC |
|
low complexity region
|
50 |
62 |
N/A |
INTRINSIC |
|
Pfam:Sulfotransfer_2
|
79 |
351 |
2e-79 |
PFAM |
|
coiled coil region
|
352 |
386 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192656
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194670
|
| Coding Region Coverage |
|
| 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 member of the heparan sulfate biosynthetic enzyme family. Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry out multiple biological activities. This enzyme is a type II integral membrane protein and is responsible for 6-O-sulfation of heparan sulfate. This enzyme does not share significant sequence similarity with other known sulfotransferases. A pseudogene located on chromosome 1 has been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele show prenatal loss, stunted growth, dilated alveoli and lower postweaning survival. Homozygotes for another null allele show additional defects in placenta, eye, phalanx and tarsus morphology. Homozygotes for a gene trapallele show altered retinal axon guidance. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
C |
A |
5: 114,304,210 (GRCm39) |
|
probably benign |
Het |
| Ankib1 |
A |
T |
5: 3,752,995 (GRCm39) |
V651E |
probably damaging |
Het |
| BC051665 |
G |
A |
13: 60,932,826 (GRCm39) |
|
probably benign |
Het |
| Ces1d |
C |
T |
8: 93,912,644 (GRCm39) |
G265S |
probably benign |
Het |
| Dsg1c |
A |
C |
18: 20,407,887 (GRCm39) |
D411A |
probably damaging |
Het |
| Exosc5 |
T |
C |
7: 25,362,622 (GRCm39) |
I70T |
possibly damaging |
Het |
| Fgf20 |
T |
A |
8: 40,732,828 (GRCm39) |
L203F |
probably damaging |
Het |
| Gpsm1 |
T |
A |
2: 26,215,390 (GRCm39) |
V316E |
probably benign |
Het |
| Gtpbp1 |
T |
A |
15: 79,603,372 (GRCm39) |
D620E |
probably benign |
Het |
| Irgm2 |
T |
A |
11: 58,110,816 (GRCm39) |
M169K |
probably benign |
Het |
| Kcns3 |
A |
G |
12: 11,142,076 (GRCm39) |
S208P |
probably benign |
Het |
| Klra6 |
T |
C |
6: 129,999,660 (GRCm39) |
T103A |
probably benign |
Het |
| Lrba |
T |
A |
3: 86,235,506 (GRCm39) |
M870K |
probably damaging |
Het |
| Mapk1ip1l |
C |
T |
14: 47,548,377 (GRCm39) |
T175I |
possibly damaging |
Het |
| Meig1 |
A |
G |
2: 3,412,947 (GRCm39) |
Y25H |
probably damaging |
Het |
| Msh2 |
T |
C |
17: 88,014,643 (GRCm39) |
F474L |
probably damaging |
Het |
| Nlrp4b |
T |
C |
7: 10,448,685 (GRCm39) |
F296S |
probably damaging |
Het |
| Or10d1b |
C |
T |
9: 39,613,534 (GRCm39) |
C177Y |
probably damaging |
Het |
| Or12d17 |
T |
A |
17: 37,777,750 (GRCm39) |
Y218N |
probably damaging |
Het |
| Or14c40 |
T |
C |
7: 86,313,275 (GRCm39) |
L135P |
probably damaging |
Het |
| Or2m12 |
T |
A |
16: 19,105,432 (GRCm39) |
L20F |
probably benign |
Het |
| Or5al6 |
C |
T |
2: 85,976,443 (GRCm39) |
V212M |
probably benign |
Het |
| Or5w15 |
T |
A |
2: 87,567,985 (GRCm39) |
I228F |
probably damaging |
Het |
| Or6z3 |
T |
C |
7: 6,464,123 (GRCm39) |
I205T |
possibly damaging |
Het |
| Or8s8 |
A |
G |
15: 98,354,317 (GRCm39) |
N42S |
probably damaging |
Het |
| Pds5b |
A |
G |
5: 150,704,217 (GRCm39) |
|
probably benign |
Het |
| Plekhg1 |
A |
G |
10: 3,823,242 (GRCm39) |
D70G |
possibly damaging |
Het |
| Rubcnl |
C |
T |
14: 75,287,588 (GRCm39) |
T624M |
probably damaging |
Het |
| Runx1t1 |
C |
T |
4: 13,860,019 (GRCm39) |
H317Y |
probably benign |
Het |
| Sec22a |
T |
C |
16: 35,134,470 (GRCm39) |
D282G |
probably damaging |
Het |
| Serpina3a |
T |
C |
12: 104,085,922 (GRCm39) |
F126L |
probably damaging |
Het |
| Serpinc1 |
A |
G |
1: 160,827,598 (GRCm39) |
D399G |
probably damaging |
Het |
| Sorcs2 |
A |
G |
5: 36,219,896 (GRCm39) |
Y383H |
probably benign |
Het |
| Speer3 |
T |
A |
5: 13,843,285 (GRCm39) |
M64K |
probably benign |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Stx1b |
C |
A |
7: 127,414,549 (GRCm39) |
R25L |
probably benign |
Het |
| Syt5 |
A |
G |
7: 4,545,356 (GRCm39) |
V181A |
probably damaging |
Het |
| Tspoap1 |
G |
T |
11: 87,672,535 (GRCm39) |
V1788F |
probably damaging |
Het |
| Vinac1 |
T |
C |
2: 128,880,646 (GRCm39) |
T427A |
possibly damaging |
Het |
| Vmn1r233 |
A |
G |
17: 21,214,057 (GRCm39) |
S298P |
possibly damaging |
Het |
| Xntrpc |
T |
C |
7: 101,731,319 (GRCm39) |
S353P |
probably damaging |
Het |
|
| Other mutations in Hs6st1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01590:Hs6st1
|
APN |
1 |
36,142,785 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01721:Hs6st1
|
APN |
1 |
36,108,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02123:Hs6st1
|
APN |
1 |
36,142,952 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL02498:Hs6st1
|
APN |
1 |
36,142,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02662:Hs6st1
|
APN |
1 |
36,142,893 (GRCm39) |
nonsense |
probably null |
|
|
R0359:Hs6st1
|
UTSW |
1 |
36,108,266 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0360:Hs6st1
|
UTSW |
1 |
36,108,266 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1268:Hs6st1
|
UTSW |
1 |
36,108,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1355:Hs6st1
|
UTSW |
1 |
36,142,657 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1521:Hs6st1
|
UTSW |
1 |
36,107,967 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1942:Hs6st1
|
UTSW |
1 |
36,107,803 (GRCm39) |
missense |
probably benign |
|
|
R2364:Hs6st1
|
UTSW |
1 |
36,107,800 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4418:Hs6st1
|
UTSW |
1 |
36,143,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4570:Hs6st1
|
UTSW |
1 |
36,142,628 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5319:Hs6st1
|
UTSW |
1 |
36,143,259 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5370:Hs6st1
|
UTSW |
1 |
36,108,162 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5567:Hs6st1
|
UTSW |
1 |
36,142,719 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5570:Hs6st1
|
UTSW |
1 |
36,142,719 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5668:Hs6st1
|
UTSW |
1 |
36,142,970 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6966:Hs6st1
|
UTSW |
1 |
36,143,299 (GRCm39) |
nonsense |
probably null |
|
|
R8129:Hs6st1
|
UTSW |
1 |
36,108,105 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8351:Hs6st1
|
UTSW |
1 |
36,108,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8451:Hs6st1
|
UTSW |
1 |
36,108,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation