Incidental Mutation 'IGL00788:Chst9'
ID |
9712 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Chst9
|
Ensembl Gene |
ENSMUSG00000047161 |
Gene Name |
carbohydrate sulfotransferase 9 |
Synonyms |
5430438D01Rik, GalNAc4ST-2 |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.648)
|
Stock # |
IGL00788
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
15584981-15893214 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 15586087 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 159
(Y159H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000049975
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053017]
[ENSMUST00000130553]
|
AlphaFold |
Q76EC5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000053017
AA Change: Y159H
PolyPhen 2
Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000049975 Gene: ENSMUSG00000047161 AA Change: Y159H
Domain | Start | End | E-Value | Type |
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
low complexity region
|
68 |
80 |
N/A |
INTRINSIC |
Pfam:Sulfotransfer_2
|
174 |
409 |
1.9e-63 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000130553
|
SMART Domains |
Protein: ENSMUSP00000121484 Gene: ENSMUSG00000047161
Domain | Start | End | E-Value | Type |
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
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 belongs to the sulfotransferase 2 family. It is localized to the golgi membrane, and catalyzes the transfer of sulfate to position 4 of non-reducing N-acetylgalactosamine (GalNAc) residues in both N-glycans and O-glycans. Sulfate groups on carbohydrates confer highly specific functions to glycoproteins, glycolipids, and proteoglycans, and are critical for cell-cell interaction, signal transduction, and embryonic development. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Aug 2011]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap9 |
A |
G |
5: 4,110,480 (GRCm39) |
E3061G |
probably damaging |
Het |
Armh3 |
C |
T |
19: 45,920,789 (GRCm39) |
|
probably null |
Het |
Casd1 |
A |
G |
6: 4,624,400 (GRCm39) |
T398A |
probably benign |
Het |
Ceacam2 |
C |
T |
7: 25,237,998 (GRCm39) |
|
probably null |
Het |
Cip2a |
T |
A |
16: 48,829,432 (GRCm39) |
|
probably benign |
Het |
Cops4 |
A |
G |
5: 100,681,421 (GRCm39) |
E152G |
probably damaging |
Het |
Crygd |
C |
T |
1: 65,101,250 (GRCm39) |
R115Q |
probably benign |
Het |
Dpy19l1 |
A |
G |
9: 24,373,864 (GRCm39) |
|
probably benign |
Het |
Gbp8 |
T |
A |
5: 105,198,863 (GRCm39) |
E17D |
probably benign |
Het |
Grik5 |
G |
A |
7: 24,764,818 (GRCm39) |
H108Y |
probably damaging |
Het |
Gsap |
G |
A |
5: 21,426,303 (GRCm39) |
|
probably benign |
Het |
Gsap |
G |
A |
5: 21,459,022 (GRCm39) |
V496M |
probably damaging |
Het |
Hectd1 |
C |
T |
12: 51,795,571 (GRCm39) |
S2286N |
probably damaging |
Het |
Hgf |
A |
T |
5: 16,803,228 (GRCm39) |
Q380L |
probably damaging |
Het |
Hsd11b1 |
C |
T |
1: 192,923,766 (GRCm39) |
M1I |
probably null |
Het |
Kank2 |
A |
G |
9: 21,691,775 (GRCm39) |
|
probably benign |
Het |
Klhl6 |
G |
A |
16: 19,775,812 (GRCm39) |
L249F |
probably benign |
Het |
Lrba |
A |
T |
3: 86,234,992 (GRCm39) |
M846L |
probably damaging |
Het |
Macrod2 |
T |
A |
2: 142,052,069 (GRCm39) |
|
probably benign |
Het |
Mroh9 |
A |
T |
1: 162,852,227 (GRCm39) |
S821T |
probably benign |
Het |
Myo5a |
A |
G |
9: 75,076,241 (GRCm39) |
T819A |
probably benign |
Het |
Neb |
A |
T |
2: 52,095,744 (GRCm39) |
|
probably benign |
Het |
Pcyt1b |
T |
C |
X: 92,778,515 (GRCm39) |
F255L |
probably benign |
Het |
Rttn |
T |
A |
18: 88,990,633 (GRCm39) |
S57T |
probably benign |
Het |
Senp2 |
A |
G |
16: 21,837,114 (GRCm39) |
D121G |
probably damaging |
Het |
Slc25a21 |
A |
T |
12: 56,760,597 (GRCm39) |
|
probably benign |
Het |
Sorbs1 |
A |
G |
19: 40,325,487 (GRCm39) |
|
probably benign |
Het |
Spats2l |
T |
A |
1: 57,924,864 (GRCm39) |
N87K |
probably damaging |
Het |
Sulf1 |
A |
G |
1: 12,918,673 (GRCm39) |
D99G |
probably damaging |
Het |
Sytl2 |
T |
A |
7: 90,031,906 (GRCm39) |
|
probably benign |
Het |
Trim13 |
T |
C |
14: 61,843,119 (GRCm39) |
F379L |
probably benign |
Het |
|
Other mutations in Chst9 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01910:Chst9
|
APN |
18 |
15,585,931 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL03038:Chst9
|
APN |
18 |
15,628,360 (GRCm39) |
missense |
probably benign |
|
IGL03146:Chst9
|
APN |
18 |
15,586,035 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4802001:Chst9
|
UTSW |
18 |
15,585,849 (GRCm39) |
missense |
probably benign |
0.01 |
R0536:Chst9
|
UTSW |
18 |
15,628,387 (GRCm39) |
splice site |
probably benign |
|
R0647:Chst9
|
UTSW |
18 |
15,585,726 (GRCm39) |
missense |
probably damaging |
1.00 |
R1240:Chst9
|
UTSW |
18 |
15,586,231 (GRCm39) |
missense |
probably benign |
|
R1580:Chst9
|
UTSW |
18 |
15,586,122 (GRCm39) |
missense |
probably benign |
0.02 |
R1892:Chst9
|
UTSW |
18 |
15,586,017 (GRCm39) |
missense |
probably damaging |
1.00 |
R2420:Chst9
|
UTSW |
18 |
15,585,341 (GRCm39) |
missense |
probably damaging |
1.00 |
R2446:Chst9
|
UTSW |
18 |
15,585,895 (GRCm39) |
missense |
possibly damaging |
0.90 |
R4737:Chst9
|
UTSW |
18 |
15,585,834 (GRCm39) |
missense |
probably damaging |
1.00 |
R4790:Chst9
|
UTSW |
18 |
15,586,107 (GRCm39) |
missense |
probably damaging |
1.00 |
R4956:Chst9
|
UTSW |
18 |
15,851,045 (GRCm39) |
missense |
probably damaging |
1.00 |
R5202:Chst9
|
UTSW |
18 |
15,586,296 (GRCm39) |
missense |
probably benign |
0.02 |
R5402:Chst9
|
UTSW |
18 |
15,585,872 (GRCm39) |
missense |
probably damaging |
0.98 |
R5754:Chst9
|
UTSW |
18 |
15,586,254 (GRCm39) |
missense |
possibly damaging |
0.77 |
R6035:Chst9
|
UTSW |
18 |
15,585,910 (GRCm39) |
missense |
probably benign |
0.13 |
R6035:Chst9
|
UTSW |
18 |
15,585,910 (GRCm39) |
missense |
probably benign |
0.13 |
R7225:Chst9
|
UTSW |
18 |
15,585,718 (GRCm39) |
missense |
probably damaging |
0.99 |
R7801:Chst9
|
UTSW |
18 |
15,585,334 (GRCm39) |
missense |
probably benign |
0.00 |
R7896:Chst9
|
UTSW |
18 |
15,585,846 (GRCm39) |
missense |
probably damaging |
1.00 |
R8159:Chst9
|
UTSW |
18 |
15,585,365 (GRCm39) |
nonsense |
probably null |
|
R8776:Chst9
|
UTSW |
18 |
15,586,086 (GRCm39) |
missense |
possibly damaging |
0.72 |
R8776-TAIL:Chst9
|
UTSW |
18 |
15,586,086 (GRCm39) |
missense |
possibly damaging |
0.72 |
R8810:Chst9
|
UTSW |
18 |
15,850,983 (GRCm39) |
missense |
probably benign |
0.00 |
R8861:Chst9
|
UTSW |
18 |
15,585,630 (GRCm39) |
missense |
possibly damaging |
0.88 |
R9285:Chst9
|
UTSW |
18 |
15,586,017 (GRCm39) |
missense |
probably damaging |
1.00 |
R9780:Chst9
|
UTSW |
18 |
15,586,221 (GRCm39) |
missense |
probably benign |
0.00 |
|
Posted On |
2012-12-06 |