Incidental Mutation 'R2446:Chst9'
| ID |
250580 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R2446 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
15584981-15893214 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 15585895 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 223
(K223E)
|
| 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: K223E
PolyPhen 2
Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000049975
Gene: ENSMUSG00000047161
AA Change: K223E
| 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 |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
| 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: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,225,101 (GRCm39) |
R527G |
probably benign |
Het |
| Cap1 |
T |
A |
4: 122,758,401 (GRCm39) |
I260F |
probably benign |
Het |
| Dpy19l4 |
A |
T |
4: 11,304,143 (GRCm39) |
|
probably null |
Het |
| Ercc2 |
T |
C |
7: 19,120,869 (GRCm39) |
I223T |
probably damaging |
Het |
| Hydin |
T |
C |
8: 111,314,347 (GRCm39) |
L4277P |
possibly damaging |
Het |
| Ibtk |
T |
C |
9: 85,585,126 (GRCm39) |
N1173D |
probably benign |
Het |
| Klra17 |
T |
A |
6: 129,808,477 (GRCm39) |
H252L |
probably benign |
Het |
| Lmf1 |
G |
A |
17: 25,873,445 (GRCm39) |
V317M |
probably damaging |
Het |
| Ltbp3 |
G |
A |
19: 5,804,050 (GRCm39) |
R854Q |
probably benign |
Het |
| Npc1 |
A |
G |
18: 12,347,396 (GRCm39) |
V208A |
probably benign |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Or5b107 |
T |
G |
19: 13,142,811 (GRCm39) |
C144W |
probably benign |
Het |
| P2rx7 |
A |
T |
5: 122,818,879 (GRCm39) |
M434L |
probably benign |
Het |
| Pcdhb9 |
G |
A |
18: 37,536,340 (GRCm39) |
G778E |
probably damaging |
Het |
| Prss3b |
A |
G |
6: 41,008,582 (GRCm39) |
I244T |
probably benign |
Het |
| Scn7a |
A |
G |
2: 66,523,002 (GRCm39) |
Y901H |
probably damaging |
Het |
| Tlcd1 |
G |
A |
11: 78,069,623 (GRCm39) |
|
probably benign |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Vmn2r3 |
A |
G |
3: 64,182,733 (GRCm39) |
I322T |
probably damaging |
Het |
| Zbtb38 |
C |
T |
9: 96,569,699 (GRCm39) |
V462M |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAATTGCCTTTCCAAACACCGG -3'
(R):5'- AAGCGTCGGTCATTCCTTC -3'
Sequencing Primer
(F):5'- CCGGATGGTAGTAACTATTGGGATGC -3'
(R):5'- AGCGTCGGTCATTCCTTCATGAG -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation