Incidental Mutation 'IGL01947:Chst10'
| ID |
181277 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Chst10
|
| Ensembl Gene |
ENSMUSG00000026080 |
| Gene Name |
carbohydrate sulfotransferase 10 |
| Synonyms |
ST, Hnk-1st |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.221)
|
| Stock # |
IGL01947
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
38902948-38937242 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 38904646 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 349
(L349P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141295
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027249]
[ENSMUST00000192948]
[ENSMUST00000193441]
[ENSMUST00000194361]
[ENSMUST00000194657]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027249
AA Change: L353P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027249
Gene: ENSMUSG00000026080
AA Change: L353P
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
23 |
45 |
N/A |
INTRINSIC |
|
Pfam:Sulfotransfer_2
|
129 |
367 |
7.1e-54 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192948
|
| SMART Domains |
Protein: ENSMUSP00000141470
Gene: ENSMUSG00000026080
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sulfotransfer_2
|
22 |
238 |
2.5e-45 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193441
|
| SMART Domains |
Protein: ENSMUSP00000142028
Gene: ENSMUSG00000026080
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
23 |
45 |
N/A |
INTRINSIC |
|
Pfam:Sulfotransfer_2
|
129 |
196 |
2.1e-9 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000194361
AA Change: L349P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141295
Gene: ENSMUSG00000026080
AA Change: L349P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
36 |
N/A |
INTRINSIC |
|
Pfam:Sulfotransfer_2
|
125 |
363 |
1.3e-51 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194657
|
| SMART Domains |
Protein: ENSMUSP00000141481
Gene: ENSMUSG00000026080
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
23 |
45 |
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.] This protein encoded by this gene transfers sulfate to the C-3 hydroxyl of terminal glucuronic acid of protein- and lipid-linked oligosaccharides. This protein was first identified as a sulfotransferase that acts on the human natural killer-1 (HNK-1) glycan; HNK-1 is a carbohydrate involved in neurodevelopment and synaptic plasticity.[provided by RefSeq, Feb 2011]
PHENOTYPE: Homozygous mutation of this gene results in altered synaptic transmission and long term potentiation. Mutant animals exhibit impaired spatial learning and long term memory deficits. Mice homozygous for a different knock-out allele exhibit reduced male and female fertility. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl4 |
T |
C |
3: 151,216,428 (GRCm39) |
|
probably null |
Het |
| Aloxe3 |
T |
A |
11: 69,033,847 (GRCm39) |
|
probably benign |
Het |
| Atic |
C |
T |
1: 71,609,996 (GRCm39) |
|
probably benign |
Het |
| Avpr1a |
T |
C |
10: 122,288,087 (GRCm39) |
V365A |
probably benign |
Het |
| Brd7 |
A |
G |
8: 89,059,503 (GRCm39) |
|
probably benign |
Het |
| Cc2d2a |
A |
G |
5: 43,845,579 (GRCm39) |
N332D |
probably damaging |
Het |
| Cdh20 |
C |
T |
1: 104,921,649 (GRCm39) |
P649S |
possibly damaging |
Het |
| Cgnl1 |
T |
C |
9: 71,632,326 (GRCm39) |
T342A |
probably damaging |
Het |
| Cox6b2 |
T |
A |
7: 4,754,929 (GRCm39) |
K77* |
probably null |
Het |
| Crnkl1 |
G |
A |
2: 145,763,744 (GRCm39) |
A498V |
probably benign |
Het |
| Cux1 |
A |
G |
5: 136,303,979 (GRCm39) |
L1394P |
probably benign |
Het |
| Dapp1 |
T |
C |
3: 137,641,404 (GRCm39) |
Y197C |
probably damaging |
Het |
| Dcc |
A |
G |
18: 71,959,280 (GRCm39) |
I164T |
probably benign |
Het |
| Disp3 |
T |
A |
4: 148,344,976 (GRCm39) |
I472F |
probably damaging |
Het |
| Gm10392 |
A |
T |
11: 77,408,306 (GRCm39) |
D104E |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gpd1 |
A |
G |
15: 99,618,112 (GRCm39) |
I143V |
possibly damaging |
Het |
| Hmcn1 |
T |
A |
1: 150,608,643 (GRCm39) |
N1513I |
possibly damaging |
Het |
| Jakmip2 |
T |
C |
18: 43,680,159 (GRCm39) |
I733V |
probably benign |
Het |
| Klhl12 |
T |
A |
1: 134,391,689 (GRCm39) |
L107H |
probably damaging |
Het |
| Lcn8 |
A |
G |
2: 25,545,157 (GRCm39) |
D109G |
probably damaging |
Het |
| Maz |
A |
T |
7: 126,623,614 (GRCm39) |
|
probably null |
Het |
| Mttp |
T |
A |
3: 137,812,890 (GRCm39) |
D595V |
probably damaging |
Het |
| Mymk |
A |
C |
2: 26,956,406 (GRCm39) |
L58R |
possibly damaging |
Het |
| Nckap1 |
A |
C |
2: 80,339,097 (GRCm39) |
I977S |
probably damaging |
Het |
| Nckap1l |
A |
T |
15: 103,399,442 (GRCm39) |
I1021F |
probably benign |
Het |
| Or12d2 |
A |
T |
17: 37,624,556 (GRCm39) |
C240S |
probably damaging |
Het |
| Or4f14b |
A |
T |
2: 111,775,339 (GRCm39) |
M154K |
probably benign |
Het |
| Or4f6 |
A |
T |
2: 111,839,361 (GRCm39) |
S57T |
possibly damaging |
Het |
| Or6c38 |
G |
A |
10: 128,929,747 (GRCm39) |
T32I |
possibly damaging |
Het |
| Pde5a |
T |
A |
3: 122,629,259 (GRCm39) |
F644L |
probably damaging |
Het |
| Pdzd2 |
A |
G |
15: 12,592,440 (GRCm39) |
I68T |
probably damaging |
Het |
| Pik3r4 |
T |
A |
9: 105,563,349 (GRCm39) |
V1242D |
possibly damaging |
Het |
| Ppp6r2 |
G |
T |
15: 89,162,929 (GRCm39) |
W517L |
probably damaging |
Het |
| Scrib |
A |
T |
15: 75,933,616 (GRCm39) |
I703K |
probably benign |
Het |
| Serpina1b |
T |
C |
12: 103,695,576 (GRCm39) |
S322G |
probably benign |
Het |
| Siglecg |
C |
A |
7: 43,058,187 (GRCm39) |
Q25K |
probably benign |
Het |
| Slc12a3 |
G |
A |
8: 95,092,447 (GRCm39) |
|
probably null |
Het |
| Slc6a13 |
G |
T |
6: 121,302,116 (GRCm39) |
|
probably null |
Het |
| Stard13 |
A |
T |
5: 150,986,309 (GRCm39) |
D282E |
probably damaging |
Het |
| Tpte |
A |
T |
8: 22,845,489 (GRCm39) |
Y513F |
possibly damaging |
Het |
| Ubox5 |
T |
A |
2: 130,442,579 (GRCm39) |
K36I |
possibly damaging |
Het |
|
| Other mutations in Chst10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0142:Chst10
|
UTSW |
1 |
38,910,810 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0513:Chst10
|
UTSW |
1 |
38,904,844 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1163:Chst10
|
UTSW |
1 |
38,910,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1464:Chst10
|
UTSW |
1 |
38,904,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1464:Chst10
|
UTSW |
1 |
38,904,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2129:Chst10
|
UTSW |
1 |
38,904,776 (GRCm39) |
missense |
probably benign |
0.41 |
|
R4163:Chst10
|
UTSW |
1 |
38,910,904 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4712:Chst10
|
UTSW |
1 |
38,904,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5328:Chst10
|
UTSW |
1 |
38,935,043 (GRCm39) |
start gained |
probably benign |
|
|
R5469:Chst10
|
UTSW |
1 |
38,904,608 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6311:Chst10
|
UTSW |
1 |
38,907,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6395:Chst10
|
UTSW |
1 |
38,910,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7156:Chst10
|
UTSW |
1 |
38,913,088 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7706:Chst10
|
UTSW |
1 |
38,905,106 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7789:Chst10
|
UTSW |
1 |
38,923,532 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7941:Chst10
|
UTSW |
1 |
38,910,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8039:Chst10
|
UTSW |
1 |
38,905,112 (GRCm39) |
nonsense |
probably null |
|
|
R8252:Chst10
|
UTSW |
1 |
38,923,433 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9482:Chst10
|
UTSW |
1 |
38,907,116 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9595:Chst10
|
UTSW |
1 |
38,913,029 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation