Incidental Mutation 'R2364:Hs6st1'
ID |
247255 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hs6st1
|
Ensembl Gene |
ENSMUSG00000045216 |
Gene Name |
heparan sulfate 6-O-sulfotransferase 1 |
Synonyms |
6OST1 |
MMRRC Submission |
040345-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.862)
|
Stock # |
R2364 (G1)
|
Quality Score |
99 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
36107481-36145527 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 36107800 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 21
(V21A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000085499
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088174]
|
AlphaFold |
Q9QYK5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000088174
AA Change: V21A
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000085499 Gene: ENSMUSG00000045216 AA Change: V21A
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 |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.3%
|
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930579F01Rik |
A |
G |
3: 137,871,584 (GRCm39) |
S268P |
probably benign |
Het |
Adam6a |
A |
G |
12: 113,508,250 (GRCm39) |
K208E |
probably benign |
Het |
Anks6 |
A |
G |
4: 47,027,248 (GRCm39) |
S725P |
possibly damaging |
Het |
Asb3 |
A |
G |
11: 31,051,192 (GRCm39) |
I549V |
probably benign |
Het |
Blvrb |
A |
G |
7: 27,147,558 (GRCm39) |
I6V |
possibly damaging |
Het |
Cabs1 |
A |
T |
5: 88,128,092 (GRCm39) |
T248S |
probably benign |
Het |
Cdk5rap2 |
A |
G |
4: 70,279,046 (GRCm39) |
|
probably null |
Het |
Cep250 |
G |
A |
2: 155,834,552 (GRCm39) |
R2159K |
probably damaging |
Het |
Dnajc28 |
G |
A |
16: 91,413,755 (GRCm39) |
T187M |
probably damaging |
Het |
Fpr1 |
A |
T |
17: 18,097,872 (GRCm39) |
L39* |
probably null |
Het |
Gstm5 |
A |
G |
3: 107,803,687 (GRCm39) |
E40G |
probably benign |
Het |
Hnrnpr |
A |
G |
4: 136,054,640 (GRCm39) |
M97V |
possibly damaging |
Het |
Hsp90aa1 |
A |
T |
12: 110,659,187 (GRCm39) |
F537I |
probably damaging |
Het |
Insr |
T |
C |
8: 3,224,820 (GRCm39) |
D216G |
probably benign |
Het |
Kif2a |
A |
T |
13: 107,113,344 (GRCm39) |
N428K |
probably damaging |
Het |
Mapk10 |
G |
T |
5: 103,186,507 (GRCm39) |
N38K |
possibly damaging |
Het |
Myh8 |
A |
G |
11: 67,185,344 (GRCm39) |
E865G |
probably benign |
Het |
Or10ak7 |
C |
T |
4: 118,791,230 (GRCm39) |
E272K |
probably benign |
Het |
Or1q1 |
T |
C |
2: 36,887,577 (GRCm39) |
Y252H |
probably damaging |
Het |
Or4k6 |
A |
T |
14: 50,475,612 (GRCm39) |
H243Q |
probably damaging |
Het |
Or5b104 |
A |
G |
19: 13,072,118 (GRCm39) |
V298A |
probably damaging |
Het |
Os9 |
T |
A |
10: 126,955,007 (GRCm39) |
K180N |
possibly damaging |
Het |
Pcdhb20 |
A |
T |
18: 37,638,991 (GRCm39) |
I506F |
probably damaging |
Het |
Pros1 |
T |
G |
16: 62,734,211 (GRCm39) |
L339R |
probably damaging |
Het |
Srp72 |
A |
G |
5: 77,132,209 (GRCm39) |
I266V |
probably benign |
Het |
Tmem245 |
A |
G |
4: 56,899,391 (GRCm39) |
V632A |
probably damaging |
Het |
Tpcn1 |
G |
T |
5: 120,691,559 (GRCm39) |
C298* |
probably null |
Het |
Ubfd1 |
T |
A |
7: 121,668,167 (GRCm39) |
D232E |
probably benign |
Het |
Vamp1 |
A |
T |
6: 125,217,306 (GRCm39) |
I117L |
probably benign |
Het |
Wwtr1 |
T |
C |
3: 57,370,024 (GRCm39) |
T364A |
possibly damaging |
Het |
Zbtb47 |
C |
T |
9: 121,596,660 (GRCm39) |
P672L |
probably damaging |
Het |
Zfp143 |
C |
A |
7: 109,682,449 (GRCm39) |
T339K |
probably damaging |
Het |
Zfp317 |
A |
G |
9: 19,559,031 (GRCm39) |
D415G |
probably benign |
Het |
Zfp628 |
A |
G |
7: 4,923,686 (GRCm39) |
H636R |
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 |
|
IGL02730:Hs6st1
|
APN |
1 |
36,142,709 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCGTTGACAGTGTGAGAGAC -3'
(R):5'- CTTCTGGATGTGCAGGAAGAC -3'
Sequencing Primer
(F):5'- GTGCAGAGCGTTCTCGG -3'
(R):5'- TGTGCAGGAAGACGATCAC -3'
|
Posted On |
2014-10-30 |