Incidental Mutation 'R8351:Hs6st1'
| ID |
645501 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hs6st1
|
| Ensembl Gene |
ENSMUSG00000045216 |
| Gene Name |
heparan sulfate 6-O-sulfotransferase 1 |
| Synonyms |
6OST1 |
| MMRRC Submission |
067804-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.862)
|
| Stock # |
R8351 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
36107481-36145527 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 36108141 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 135
(T135A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000085499
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088174]
|
| AlphaFold |
Q9QYK5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000088174
AA Change: T135A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000085499
Gene: ENSMUSG00000045216
AA Change: T135A
| 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 |
|
| Meta Mutation Damage Score |
0.7349 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700123K08Rik |
G |
A |
5: 138,561,188 (GRCm39) |
T158M |
probably benign |
Het |
| Acss3 |
T |
C |
10: 106,885,265 (GRCm39) |
H242R |
probably damaging |
Het |
| Ago2 |
G |
T |
15: 73,002,739 (GRCm39) |
D164E |
probably damaging |
Het |
| Arl2bp |
G |
A |
8: 95,393,507 (GRCm39) |
E6K |
unknown |
Het |
| Bola1 |
G |
A |
3: 96,104,573 (GRCm39) |
A7V |
probably benign |
Het |
| Ccdc18 |
A |
G |
5: 108,303,663 (GRCm39) |
E249G |
probably damaging |
Het |
| Cep162 |
G |
A |
9: 87,074,903 (GRCm39) |
Q1360* |
probably null |
Het |
| Cep350 |
T |
C |
1: 155,747,780 (GRCm39) |
I2047V |
probably damaging |
Het |
| Cntnap5c |
C |
T |
17: 58,362,687 (GRCm39) |
R347W |
probably damaging |
Het |
| Eif4a3l1 |
T |
A |
6: 136,305,542 (GRCm39) |
M1K |
probably null |
Het |
| Fmo6 |
C |
T |
1: 162,748,174 (GRCm39) |
V297M |
probably damaging |
Het |
| Furin |
C |
T |
7: 80,048,470 (GRCm39) |
V17M |
probably benign |
Het |
| Klk1 |
A |
G |
7: 43,878,410 (GRCm39) |
E190G |
probably benign |
Het |
| Map3k21 |
T |
C |
8: 126,671,472 (GRCm39) |
L920P |
probably benign |
Het |
| Mecom |
T |
A |
3: 30,039,519 (GRCm39) |
H180L |
probably benign |
Het |
| Mras |
T |
C |
9: 99,293,548 (GRCm39) |
I31V |
probably damaging |
Het |
| Nrxn3 |
A |
G |
12: 89,477,413 (GRCm39) |
D532G |
probably damaging |
Het |
| Nufip2 |
A |
G |
11: 77,583,181 (GRCm39) |
N365S |
probably damaging |
Het |
| Or12j2 |
T |
C |
7: 139,916,518 (GRCm39) |
Y248H |
probably damaging |
Het |
| Or4f47 |
A |
T |
2: 111,972,406 (GRCm39) |
M39L |
probably benign |
Het |
| Or6b2 |
T |
C |
1: 92,407,660 (GRCm39) |
I228V |
probably benign |
Het |
| Pgbd1 |
A |
T |
13: 21,607,550 (GRCm39) |
S215T |
probably benign |
Het |
| Ptcd3 |
A |
G |
6: 71,885,625 (GRCm39) |
C34R |
probably benign |
Het |
| S100a7l2 |
A |
T |
3: 90,995,671 (GRCm39) |
M77K |
probably benign |
Het |
| Samd4 |
A |
G |
14: 47,338,888 (GRCm39) |
D703G |
probably damaging |
Het |
| Scaper |
A |
T |
9: 55,724,088 (GRCm39) |
N623K |
possibly damaging |
Het |
| Slc12a9 |
C |
A |
5: 137,313,737 (GRCm39) |
V741L |
probably benign |
Het |
| Slc12a9 |
T |
C |
5: 137,326,710 (GRCm39) |
D249G |
probably benign |
Het |
| Slc3a1 |
A |
G |
17: 85,335,924 (GRCm39) |
N22S |
possibly damaging |
Het |
| Sugct |
A |
G |
13: 17,427,143 (GRCm39) |
L339P |
probably damaging |
Het |
| Tenm3 |
T |
C |
8: 48,740,907 (GRCm39) |
D1192G |
probably damaging |
Het |
| Tinagl1 |
T |
A |
4: 130,061,376 (GRCm39) |
D289V |
probably damaging |
Het |
| Tnrc6b |
C |
A |
15: 80,807,691 (GRCm39) |
P1548T |
probably damaging |
Het |
| Vmn1r173 |
T |
A |
7: 23,401,957 (GRCm39) |
L64* |
probably null |
Het |
| Zcchc2 |
T |
A |
1: 105,958,662 (GRCm39) |
N1044K |
probably damaging |
Het |
| Zfp750 |
T |
C |
11: 121,404,135 (GRCm39) |
I247V |
probably benign |
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 |
|
|
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 |
|
R8451:Hs6st1
|
UTSW |
1 |
36,108,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAAGTACTACTTCCCGGTGC -3'
(R):5'- AGATGGGAATCCTGGGATCC -3'
Sequencing Primer
(F):5'- TACTTCCCGGTGCGCGAG -3'
(R):5'- GCACACAGTTGGTGAGT -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation