Incidental Mutation 'IGL01910:Chst9'
ID |
179785 |
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 # |
IGL01910
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
15584981-15893214 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 15585931 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Serine
at position 211
(A211S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000049975
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053017]
[ENSMUST00000130553]
|
AlphaFold |
Q76EC5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000053017
AA Change: A211S
PolyPhen 2
Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000049975 Gene: ENSMUSG00000047161 AA Change: A211S
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: 23 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ammecr1l |
A |
G |
18: 31,904,995 (GRCm39) |
M79V |
probably benign |
Het |
Arhgap5 |
T |
A |
12: 52,563,644 (GRCm39) |
V205E |
probably benign |
Het |
BC061237 |
T |
C |
14: 44,743,445 (GRCm39) |
|
probably benign |
Het |
Calr |
T |
A |
8: 85,571,598 (GRCm39) |
|
probably benign |
Het |
Celsr1 |
T |
C |
15: 85,814,096 (GRCm39) |
N1942S |
probably benign |
Het |
Cfap100 |
T |
C |
6: 90,386,606 (GRCm39) |
D373G |
probably damaging |
Het |
Ephb1 |
T |
C |
9: 101,879,056 (GRCm39) |
E478G |
probably benign |
Het |
Fbrsl1 |
A |
T |
5: 110,511,602 (GRCm39) |
V387D |
probably damaging |
Het |
Fxyd5 |
T |
C |
7: 30,734,643 (GRCm39) |
I161V |
probably damaging |
Het |
Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
Hmx2 |
C |
T |
7: 131,157,401 (GRCm39) |
R172C |
probably damaging |
Het |
Itgam |
C |
T |
7: 127,682,948 (GRCm39) |
A320V |
probably damaging |
Het |
Macrod2 |
T |
A |
2: 142,138,485 (GRCm39) |
N361K |
probably benign |
Het |
Mbl1 |
T |
C |
14: 40,875,703 (GRCm39) |
|
probably null |
Het |
Nudt9 |
G |
A |
5: 104,202,175 (GRCm39) |
G79R |
probably damaging |
Het |
Ppan |
C |
T |
9: 20,802,232 (GRCm39) |
R208C |
probably damaging |
Het |
Rpl23a-ps1 |
A |
G |
1: 46,020,940 (GRCm39) |
|
noncoding transcript |
Het |
Slc17a1 |
A |
G |
13: 24,062,440 (GRCm39) |
|
probably benign |
Het |
Tep1 |
T |
C |
14: 51,081,569 (GRCm39) |
T1269A |
probably benign |
Het |
Vmn2r16 |
A |
T |
5: 109,487,951 (GRCm39) |
N275Y |
probably damaging |
Het |
Wdr93 |
T |
C |
7: 79,421,321 (GRCm39) |
S405P |
probably damaging |
Het |
Xcl1 |
T |
A |
1: 164,759,458 (GRCm39) |
I81F |
probably damaging |
Het |
|
Other mutations in Chst9 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00788:Chst9
|
APN |
18 |
15,586,087 (GRCm39) |
missense |
probably benign |
0.34 |
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 |
2014-05-07 |