Incidental Mutation 'IGL03056:Ust'
| ID |
409226 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ust
|
| Ensembl Gene |
ENSMUSG00000047712 |
| Gene Name |
uronyl-2-sulfotransferase |
| Synonyms |
UA2OST, D930010O20Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.417)
|
| Stock # |
IGL03056
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
8080520-8394589 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 8083326 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 350
(H350R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052017
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061601]
|
| AlphaFold |
Q8BUB6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061601
AA Change: H350R
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000052017
Gene: ENSMUSG00000047712
AA Change: H350R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gal-3-0_sulfotr
|
53 |
317 |
8.5e-11 |
PFAM |
|
Pfam:Sulfotransfer_2
|
98 |
359 |
6.4e-38 |
PFAM |
|
low complexity region
|
385 |
398 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219116
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Uronyl 2-sulfotransferase transfers sulfate to the 2-position of uronyl residues, such as iduronyl residues in dermatan sulfate and glucuronyl residues in chondroitin sulfate (Kobayashi et al., 1999 [PubMed 10187838]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
G |
6: 121,647,862 (GRCm39) |
H1118R |
probably damaging |
Het |
| Aff1 |
G |
A |
5: 103,958,947 (GRCm39) |
V339I |
probably damaging |
Het |
| Ank1 |
G |
T |
8: 23,631,195 (GRCm39) |
V107F |
probably damaging |
Het |
| Aox3 |
T |
C |
1: 58,198,180 (GRCm39) |
|
probably null |
Het |
| Cd160 |
T |
C |
3: 96,713,127 (GRCm39) |
T46A |
probably benign |
Het |
| Cimip2a |
T |
A |
2: 25,111,367 (GRCm39) |
M232K |
possibly damaging |
Het |
| Col20a1 |
A |
T |
2: 180,636,682 (GRCm39) |
Y221F |
probably damaging |
Het |
| Ddx18 |
C |
T |
1: 121,492,264 (GRCm39) |
A148T |
probably benign |
Het |
| Dennd5b |
A |
G |
6: 148,956,570 (GRCm39) |
M307T |
probably damaging |
Het |
| Fam216b |
G |
A |
14: 78,320,223 (GRCm39) |
H86Y |
probably benign |
Het |
| Fh1 |
A |
T |
1: 175,433,728 (GRCm39) |
C374S |
probably damaging |
Het |
| Fkbp14 |
A |
G |
6: 54,556,529 (GRCm39) |
V207A |
probably benign |
Het |
| Gucy1a1 |
T |
C |
3: 82,020,594 (GRCm39) |
K101R |
probably benign |
Het |
| Kcnk2 |
G |
T |
1: 189,027,908 (GRCm39) |
Q116K |
possibly damaging |
Het |
| Kdm5b |
C |
A |
1: 134,515,717 (GRCm39) |
Q114K |
probably damaging |
Het |
| Kif12 |
C |
T |
4: 63,085,193 (GRCm39) |
R516Q |
probably null |
Het |
| Lca5l |
C |
T |
16: 95,962,551 (GRCm39) |
C463Y |
probably benign |
Het |
| Lgsn |
T |
A |
1: 31,242,705 (GRCm39) |
Y262* |
probably null |
Het |
| Lig4 |
A |
G |
8: 10,022,580 (GRCm39) |
I400T |
possibly damaging |
Het |
| Mink1 |
T |
A |
11: 70,503,409 (GRCm39) |
|
probably null |
Het |
| Mprip |
T |
A |
11: 59,662,518 (GRCm39) |
I2243N |
probably damaging |
Het |
| Myo1f |
A |
T |
17: 33,804,574 (GRCm39) |
Y426F |
probably damaging |
Het |
| Naip2 |
T |
A |
13: 100,298,795 (GRCm39) |
S414C |
possibly damaging |
Het |
| Nrg1 |
T |
C |
8: 32,311,451 (GRCm39) |
I363V |
possibly damaging |
Het |
| Or4f54 |
A |
T |
2: 111,123,517 (GRCm39) |
R301S |
possibly damaging |
Het |
| Or52r1b |
A |
T |
7: 102,690,958 (GRCm39) |
I86L |
possibly damaging |
Het |
| Serpinb9d |
T |
C |
13: 33,386,736 (GRCm39) |
V268A |
probably damaging |
Het |
| Slc15a1 |
A |
G |
14: 121,728,695 (GRCm39) |
F17L |
possibly damaging |
Het |
| Slc9a3 |
T |
A |
13: 74,298,938 (GRCm39) |
V119E |
probably damaging |
Het |
| Sspo |
T |
A |
6: 48,447,472 (GRCm39) |
M2346K |
probably benign |
Het |
| Tcf4 |
G |
T |
18: 69,784,283 (GRCm39) |
|
probably benign |
Het |
| Trabd2b |
T |
C |
4: 114,266,535 (GRCm39) |
V183A |
probably damaging |
Het |
| Zfp952 |
T |
A |
17: 33,221,740 (GRCm39) |
V35E |
probably damaging |
Het |
|
| Other mutations in Ust |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01992:Ust
|
APN |
10 |
8,173,842 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0015:Ust
|
UTSW |
10 |
8,205,829 (GRCm39) |
splice site |
probably benign |
|
|
R0417:Ust
|
UTSW |
10 |
8,121,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0423:Ust
|
UTSW |
10 |
8,173,912 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0533:Ust
|
UTSW |
10 |
8,123,844 (GRCm39) |
splice site |
probably benign |
|
|
R1344:Ust
|
UTSW |
10 |
8,173,954 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1436:Ust
|
UTSW |
10 |
8,183,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1803:Ust
|
UTSW |
10 |
8,173,819 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2059:Ust
|
UTSW |
10 |
8,083,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4248:Ust
|
UTSW |
10 |
8,393,982 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R4811:Ust
|
UTSW |
10 |
8,121,705 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5075:Ust
|
UTSW |
10 |
8,393,988 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5912:Ust
|
UTSW |
10 |
8,173,825 (GRCm39) |
missense |
probably benign |
0.25 |
|
R5950:Ust
|
UTSW |
10 |
8,123,865 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7302:Ust
|
UTSW |
10 |
8,393,973 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7478:Ust
|
UTSW |
10 |
8,266,650 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7685:Ust
|
UTSW |
10 |
8,083,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7704:Ust
|
UTSW |
10 |
8,205,987 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9049:Ust
|
UTSW |
10 |
8,183,218 (GRCm39) |
nonsense |
probably null |
|
|
R9425:Ust
|
UTSW |
10 |
8,205,873 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2016-08-02 |
Incidental Mutation