Incidental Mutation 'R2967:Hs2st1'
| ID |
263280 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hs2st1
|
| Ensembl Gene |
ENSMUSG00000040151 |
| Gene Name |
heparan sulfate 2-O-sulfotransferase 1 |
| Synonyms |
Hs2st |
| MMRRC Submission |
040523-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.688)
|
| Stock # |
R2967 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
144135467-144275942 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 144170899 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 91
(N91I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043066
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043325]
[ENSMUST00000160690]
|
| AlphaFold |
Q8R3H7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043325
AA Change: N91I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000043066
Gene: ENSMUSG00000040151
AA Change: N91I
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
21 |
58 |
N/A |
INTRINSIC |
|
Pfam:Sulfotransfer_2
|
66 |
327 |
9.1e-44 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160690
|
| SMART Domains |
Protein: ENSMUSP00000123816
Gene: ENSMUSG00000040151
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
27 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry out multiple biologic activities. This gene encodes a member of the heparan sulfate biosynthetic enzyme family that transfers sulfate to the 2 position of the iduronic acid residue of heparan sulfate. The disruption of this gene resulted in no kidney formation in knockout embryonic mice, indicating that the absence of this enzyme may interfere with the signaling required for kidney formation. Two alternatively spliced transcript variants that encode different proteins have been found for this gene. [provided by RefSeq, Aug 2008]
PHENOTYPE: A mutation in this gene causes bilateral renal agenesis, bone defects, eye development abnormalities and cataracts in homozygous mice. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
A |
G |
5: 114,304,131 (GRCm39) |
S185G |
possibly damaging |
Het |
| Adgra1 |
G |
A |
7: 139,455,601 (GRCm39) |
E410K |
possibly damaging |
Het |
| Aox1 |
A |
T |
1: 58,361,993 (GRCm39) |
N733I |
probably damaging |
Het |
| Bola3 |
T |
A |
6: 83,326,280 (GRCm39) |
Y24N |
probably benign |
Het |
| Cntn6 |
G |
A |
6: 104,703,198 (GRCm39) |
V135I |
probably benign |
Het |
| Eif2s3y |
A |
T |
Y: 1,020,030 (GRCm39) |
M353L |
probably benign |
Het |
| Ercc8 |
C |
A |
13: 108,297,248 (GRCm39) |
P53T |
probably damaging |
Het |
| Gan |
A |
G |
8: 117,910,265 (GRCm39) |
K65E |
probably damaging |
Het |
| Gm1110 |
T |
C |
9: 26,792,339 (GRCm39) |
E597G |
probably benign |
Het |
| Gsdmc4 |
T |
A |
15: 63,773,909 (GRCm39) |
H81L |
probably benign |
Het |
| Or1e31 |
A |
G |
11: 73,689,933 (GRCm39) |
S217P |
possibly damaging |
Het |
| Or7a41 |
A |
T |
10: 78,870,887 (GRCm39) |
I86F |
probably damaging |
Het |
| Pgr |
T |
C |
9: 8,901,819 (GRCm39) |
S451P |
possibly damaging |
Het |
| Pira13 |
T |
A |
7: 3,825,686 (GRCm39) |
R394S |
probably damaging |
Het |
| Pwp2 |
A |
G |
10: 78,018,532 (GRCm39) |
L84S |
possibly damaging |
Het |
| Rab1a |
T |
A |
11: 20,173,068 (GRCm39) |
|
probably null |
Het |
| Secisbp2 |
T |
C |
13: 51,824,915 (GRCm39) |
S388P |
probably benign |
Het |
| Sh3rf1 |
C |
T |
8: 61,679,321 (GRCm39) |
P121L |
probably benign |
Het |
| Sybu |
T |
C |
15: 44,609,752 (GRCm39) |
K172R |
probably damaging |
Het |
| Topbp1 |
C |
T |
9: 103,219,339 (GRCm39) |
A1197V |
probably benign |
Het |
| Ttf1 |
T |
A |
2: 28,955,395 (GRCm39) |
V253D |
possibly damaging |
Het |
| Ugt2a2 |
A |
T |
5: 87,622,488 (GRCm39) |
V160E |
probably damaging |
Het |
| Vmn1r81 |
G |
T |
7: 11,993,964 (GRCm39) |
Q215K |
probably damaging |
Het |
| Zfp653 |
A |
G |
9: 21,977,026 (GRCm39) |
L147P |
probably damaging |
Het |
|
| Other mutations in Hs2st1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0037:Hs2st1
|
UTSW |
3 |
144,143,405 (GRCm39) |
nonsense |
probably null |
|
|
R1215:Hs2st1
|
UTSW |
3 |
144,170,902 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1450:Hs2st1
|
UTSW |
3 |
144,140,479 (GRCm39) |
splice site |
probably benign |
|
|
R1474:Hs2st1
|
UTSW |
3 |
144,141,256 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1505:Hs2st1
|
UTSW |
3 |
144,140,322 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1695:Hs2st1
|
UTSW |
3 |
144,140,415 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2511:Hs2st1
|
UTSW |
3 |
144,275,691 (GRCm39) |
unclassified |
probably benign |
|
|
R3928:Hs2st1
|
UTSW |
3 |
144,140,389 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R4895:Hs2st1
|
UTSW |
3 |
144,171,014 (GRCm39) |
missense |
probably benign |
|
|
R4911:Hs2st1
|
UTSW |
3 |
144,170,843 (GRCm39) |
missense |
probably benign |
0.23 |
|
R5477:Hs2st1
|
UTSW |
3 |
144,262,709 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R5666:Hs2st1
|
UTSW |
3 |
144,275,554 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6262:Hs2st1
|
UTSW |
3 |
144,140,374 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7230:Hs2st1
|
UTSW |
3 |
144,140,307 (GRCm39) |
missense |
probably benign |
|
|
R7372:Hs2st1
|
UTSW |
3 |
144,141,221 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7492:Hs2st1
|
UTSW |
3 |
144,141,357 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7720:Hs2st1
|
UTSW |
3 |
144,159,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8309:Hs2st1
|
UTSW |
3 |
144,143,365 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R8497:Hs2st1
|
UTSW |
3 |
144,140,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0019:Hs2st1
|
UTSW |
3 |
144,159,773 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACAACACTTCATCCCTTGC -3'
(R):5'- CGCTGGGATGTATAGACTTAGGG -3'
Sequencing Primer
(F):5'- CCCTTGCAATACCAAATTTGAGGAG -3'
(R):5'- CTGGGATGTATAGACTTAGGGTGTGG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation