Incidental Mutation 'R1268:Hs6st1'
| ID |
151197 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hs6st1
|
| Ensembl Gene |
ENSMUSG00000045216 |
| Gene Name |
heparan sulfate 6-O-sulfotransferase 1 |
| Synonyms |
6OST1 |
| MMRRC Submission |
039335-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.862)
|
| Stock # |
R1268 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
36107481-36145527 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 36108007 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 90
(V90D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000085499
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088174]
|
| AlphaFold |
Q9QYK5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000088174
AA Change: V90D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000085499
Gene: ENSMUSG00000045216
AA Change: V90D
| 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 |
0.9506 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.6%
|
| Validation Efficiency |
100% (41/41) |
| 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 |
|---|
| Afdn |
T |
C |
17: 14,108,248 (GRCm39) |
V1257A |
probably damaging |
Het |
| Aplnr |
A |
G |
2: 84,967,775 (GRCm39) |
T267A |
possibly damaging |
Het |
| Arap2 |
A |
G |
5: 62,887,964 (GRCm39) |
S461P |
probably benign |
Het |
| Brpf3 |
A |
G |
17: 29,055,530 (GRCm39) |
T1160A |
probably damaging |
Het |
| Col5a1 |
A |
T |
2: 27,892,501 (GRCm39) |
T1005S |
unknown |
Het |
| Crebrf |
CTTTT |
CTTT |
17: 26,958,570 (GRCm39) |
|
probably null |
Het |
| Fmo6 |
A |
T |
1: 162,748,086 (GRCm39) |
I326N |
probably damaging |
Het |
| Foxp4 |
G |
C |
17: 48,191,278 (GRCm39) |
|
probably benign |
Het |
| Gnat1 |
A |
G |
9: 107,553,076 (GRCm39) |
|
probably benign |
Het |
| Igsf11 |
A |
G |
16: 38,845,216 (GRCm39) |
T257A |
probably benign |
Het |
| Ints2 |
C |
T |
11: 86,123,911 (GRCm39) |
G626R |
probably damaging |
Het |
| Mab21l3 |
C |
T |
3: 101,742,363 (GRCm39) |
E66K |
possibly damaging |
Het |
| Mroh2a |
C |
T |
1: 88,158,402 (GRCm39) |
R150* |
probably null |
Het |
| Mybl2 |
A |
G |
2: 162,916,636 (GRCm39) |
N429S |
probably benign |
Het |
| Mycbp2 |
G |
A |
14: 103,446,218 (GRCm39) |
T1837I |
probably damaging |
Het |
| Myh7b |
C |
A |
2: 155,455,966 (GRCm39) |
S117* |
probably null |
Het |
| Nek1 |
C |
A |
8: 61,475,298 (GRCm39) |
A202E |
probably damaging |
Het |
| Notum |
C |
T |
11: 120,549,493 (GRCm39) |
W159* |
probably null |
Het |
| Ntn1 |
TCCTCGGC |
TC |
11: 68,103,959 (GRCm39) |
|
probably benign |
Het |
| Nup58 |
A |
T |
14: 60,482,119 (GRCm39) |
|
probably benign |
Het |
| Or2w2 |
C |
T |
13: 21,758,498 (GRCm39) |
V43M |
probably benign |
Het |
| Or4c58 |
A |
G |
2: 89,674,498 (GRCm39) |
I273T |
probably damaging |
Het |
| Or4f57 |
G |
T |
2: 111,791,222 (GRCm39) |
N65K |
possibly damaging |
Het |
| Or5b99 |
T |
C |
19: 12,976,625 (GRCm39) |
Y92H |
possibly damaging |
Het |
| Or5p69 |
A |
T |
7: 107,967,002 (GRCm39) |
I102F |
probably benign |
Het |
| Or7g12 |
T |
C |
9: 18,899,652 (GRCm39) |
F123L |
probably damaging |
Het |
| Plk4 |
T |
A |
3: 40,765,804 (GRCm39) |
V659D |
probably damaging |
Het |
| Rbm27 |
T |
C |
18: 42,466,367 (GRCm39) |
S866P |
probably damaging |
Het |
| Rnaseh2b |
A |
T |
14: 62,609,904 (GRCm39) |
K303N |
possibly damaging |
Het |
| Samd9l |
C |
T |
6: 3,376,113 (GRCm39) |
V383I |
possibly damaging |
Het |
| Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
| Slc35f2 |
T |
A |
9: 53,705,197 (GRCm39) |
Y62* |
probably null |
Het |
| Tenm2 |
C |
T |
11: 35,954,004 (GRCm39) |
G1236R |
possibly damaging |
Het |
| Ulk1 |
A |
G |
5: 110,938,143 (GRCm39) |
S610P |
probably damaging |
Het |
| Ulk4 |
C |
A |
9: 121,086,140 (GRCm39) |
|
probably benign |
Het |
| Vdr |
T |
C |
15: 97,755,356 (GRCm39) |
N389S |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTCATCCTTTACCAGTACGCGG -3'
(R):5'- AGCCAAGCCTGGACCTCTAGTC -3'
Sequencing Primer
(F):5'- CGGACCCACATTACGAGAAA -3'
(R):5'- TGAGTTCGGTCCAGTCAGC -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation