Incidental Mutation 'IGL03038:Chst9'
ID |
408798 |
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 # |
IGL03038
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
15584981-15893214 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 15628360 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Arginine
at position 55
(Q55R)
|
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: Q55R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000049975 Gene: ENSMUSG00000047161 AA Change: Q55R
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acadsb |
T |
C |
7: 131,030,185 (GRCm39) |
Y111H |
probably damaging |
Het |
Arhgef6 |
C |
T |
X: 56,290,966 (GRCm39) |
V262I |
probably benign |
Het |
Arsk |
C |
A |
13: 76,213,632 (GRCm39) |
|
probably benign |
Het |
Ces1b |
T |
C |
8: 93,793,680 (GRCm39) |
E303G |
probably benign |
Het |
Cntnap3 |
A |
T |
13: 64,888,839 (GRCm39) |
D1153E |
possibly damaging |
Het |
D130043K22Rik |
A |
G |
13: 25,063,602 (GRCm39) |
E681G |
probably damaging |
Het |
Fhad1 |
T |
C |
4: 141,729,805 (GRCm39) |
E66G |
probably benign |
Het |
Flii |
T |
C |
11: 60,615,658 (GRCm39) |
T69A |
probably benign |
Het |
Foxl1 |
A |
C |
8: 121,855,158 (GRCm39) |
E153A |
probably damaging |
Het |
Gstm3 |
T |
C |
3: 107,873,485 (GRCm39) |
D162G |
possibly damaging |
Het |
Gtpbp3 |
G |
A |
8: 71,941,947 (GRCm39) |
V96I |
possibly damaging |
Het |
Insig2 |
G |
A |
1: 121,247,403 (GRCm39) |
T56I |
probably damaging |
Het |
Kif13a |
A |
G |
13: 46,926,314 (GRCm39) |
L264P |
probably damaging |
Het |
Lama3 |
T |
G |
18: 12,552,307 (GRCm39) |
C420G |
probably damaging |
Het |
Lrp2 |
C |
T |
2: 69,305,808 (GRCm39) |
G2918S |
probably damaging |
Het |
Lrrc8b |
T |
C |
5: 105,629,358 (GRCm39) |
L568P |
probably damaging |
Het |
Lyl1 |
C |
T |
8: 85,429,300 (GRCm39) |
P3L |
possibly damaging |
Het |
Malrd1 |
G |
A |
2: 16,132,778 (GRCm39) |
D1900N |
unknown |
Het |
Mastl |
C |
A |
2: 23,030,627 (GRCm39) |
|
probably benign |
Het |
Med24 |
T |
G |
11: 98,607,010 (GRCm39) |
T276P |
possibly damaging |
Het |
Naip1 |
A |
C |
13: 100,573,841 (GRCm39) |
Y239* |
probably null |
Het |
Nhsl2 |
A |
G |
X: 101,122,491 (GRCm39) |
K765E |
probably damaging |
Het |
Npy |
A |
G |
6: 49,800,588 (GRCm39) |
N4S |
probably benign |
Het |
Nsun2 |
A |
G |
13: 69,767,703 (GRCm39) |
D188G |
probably damaging |
Het |
Or6c88 |
A |
G |
10: 129,406,790 (GRCm39) |
T89A |
probably benign |
Het |
Pde1a |
C |
A |
2: 79,718,290 (GRCm39) |
|
probably benign |
Het |
Pik3cb |
G |
A |
9: 98,947,650 (GRCm39) |
A509V |
probably damaging |
Het |
Pou2f2 |
C |
T |
7: 24,796,577 (GRCm39) |
S315N |
probably damaging |
Het |
Prdm2 |
A |
C |
4: 142,860,571 (GRCm39) |
S906R |
probably damaging |
Het |
Prkaca |
C |
A |
8: 84,721,580 (GRCm39) |
Q300K |
probably benign |
Het |
Prox2 |
T |
C |
12: 85,142,038 (GRCm39) |
D55G |
possibly damaging |
Het |
Ryr3 |
T |
A |
2: 112,498,465 (GRCm39) |
T3612S |
possibly damaging |
Het |
S1pr1 |
T |
A |
3: 115,506,343 (GRCm39) |
I84L |
possibly damaging |
Het |
Slc47a1 |
C |
T |
11: 61,243,918 (GRCm39) |
V384M |
probably benign |
Het |
Slc6a20b |
T |
C |
9: 123,426,394 (GRCm39) |
N497S |
possibly damaging |
Het |
Spen |
C |
A |
4: 141,265,550 (GRCm39) |
R3L |
unknown |
Het |
Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
Ttll6 |
T |
C |
11: 96,042,786 (GRCm39) |
F444S |
probably damaging |
Het |
Vwce |
T |
A |
19: 10,624,035 (GRCm39) |
Y309N |
possibly damaging |
Het |
Vwf |
T |
C |
6: 125,581,120 (GRCm39) |
L586P |
possibly damaging |
Het |
Wdr35 |
T |
C |
12: 9,024,185 (GRCm39) |
|
probably benign |
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 |
IGL01910:Chst9
|
APN |
18 |
15,585,931 (GRCm39) |
missense |
possibly damaging |
0.90 |
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 |
2016-08-02 |