Incidental Mutation 'R5469:Chst10'
ID |
433389 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Chst10
|
Ensembl Gene |
ENSMUSG00000026080 |
Gene Name |
carbohydrate sulfotransferase 10 |
Synonyms |
ST, Hnk-1st |
MMRRC Submission |
043030-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.221)
|
Stock # |
R5469 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
38902948-38937242 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 38904608 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Asparagine
at position 362
(Y362N)
|
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: Y366N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000027249 Gene: ENSMUSG00000026080 AA Change: Y366N
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: Y362N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000141295 Gene: ENSMUSG00000026080 AA Change: Y362N
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 |
- 1x: 98.2%
- 3x: 97.3%
- 10x: 95.1%
- 20x: 90.4%
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Allc |
A |
T |
12: 28,605,305 (GRCm39) |
N331K |
probably benign |
Het |
Anapc1 |
G |
T |
2: 128,517,621 (GRCm39) |
S341* |
probably null |
Het |
Cacna1e |
T |
C |
1: 154,319,683 (GRCm39) |
E1339G |
probably damaging |
Het |
Cacna2d1 |
T |
A |
5: 16,557,676 (GRCm39) |
I702N |
probably damaging |
Het |
Casp2 |
C |
A |
6: 42,246,268 (GRCm39) |
H209N |
probably benign |
Het |
Casr |
A |
G |
16: 36,330,392 (GRCm39) |
V314A |
probably benign |
Het |
Ccne2 |
A |
T |
4: 11,201,353 (GRCm39) |
R294* |
probably null |
Het |
Cd180 |
T |
A |
13: 102,841,342 (GRCm39) |
H129Q |
probably benign |
Het |
Ctnna1 |
T |
A |
18: 35,372,573 (GRCm39) |
D509E |
probably benign |
Het |
Ctsh |
G |
T |
9: 89,942,564 (GRCm39) |
|
probably null |
Het |
Dhx29 |
C |
T |
13: 113,081,073 (GRCm39) |
A369V |
possibly damaging |
Het |
Enox1 |
A |
G |
14: 77,830,414 (GRCm39) |
T340A |
probably benign |
Het |
Fam135b |
T |
A |
15: 71,317,892 (GRCm39) |
T1357S |
probably benign |
Het |
Flt3 |
A |
T |
5: 147,291,893 (GRCm39) |
S544T |
possibly damaging |
Het |
Gm12689 |
T |
C |
4: 99,184,402 (GRCm39) |
I85T |
unknown |
Het |
Gsap |
A |
T |
5: 21,495,542 (GRCm39) |
Y831F |
possibly damaging |
Het |
Hnrnpr |
C |
T |
4: 136,046,745 (GRCm39) |
T142M |
probably damaging |
Het |
Jak3 |
A |
G |
8: 72,131,417 (GRCm39) |
D94G |
probably benign |
Het |
Ktn1 |
A |
T |
14: 47,928,377 (GRCm39) |
E579D |
probably damaging |
Het |
Lama2 |
G |
A |
10: 26,917,185 (GRCm39) |
P2247S |
possibly damaging |
Het |
Lrba |
C |
T |
3: 86,449,948 (GRCm39) |
S2089F |
probably damaging |
Het |
Map1b |
C |
T |
13: 99,565,846 (GRCm39) |
V2292M |
unknown |
Het |
Mphosph10 |
A |
T |
7: 64,039,193 (GRCm39) |
|
probably null |
Het |
Pappa |
C |
T |
4: 65,123,389 (GRCm39) |
T908M |
probably benign |
Het |
Pdcd10 |
T |
A |
3: 75,428,364 (GRCm39) |
K150* |
probably null |
Het |
Piezo2 |
A |
T |
18: 63,160,935 (GRCm39) |
I2275N |
probably damaging |
Het |
Pmvk |
T |
C |
3: 89,374,989 (GRCm39) |
|
probably null |
Het |
Pold2 |
G |
A |
11: 5,823,048 (GRCm39) |
P376S |
probably damaging |
Het |
Prtg |
A |
T |
9: 72,799,247 (GRCm39) |
Q759L |
probably damaging |
Het |
Rad51ap1 |
C |
T |
6: 126,905,190 (GRCm39) |
S107N |
probably damaging |
Het |
Rfk |
T |
A |
19: 17,372,566 (GRCm39) |
N29K |
probably damaging |
Het |
Ror2 |
T |
C |
13: 53,271,375 (GRCm39) |
M315V |
probably benign |
Het |
Rrn3 |
A |
G |
16: 13,630,964 (GRCm39) |
E600G |
probably benign |
Het |
Ryk |
A |
G |
9: 102,784,153 (GRCm39) |
Y593C |
possibly damaging |
Het |
Slc30a3 |
T |
A |
5: 31,246,004 (GRCm39) |
D193V |
probably damaging |
Het |
Slc35e2 |
C |
T |
4: 155,694,483 (GRCm39) |
P10L |
probably benign |
Het |
Srbd1 |
C |
A |
17: 86,427,370 (GRCm39) |
C421F |
possibly damaging |
Het |
Sstr5 |
A |
C |
17: 25,711,043 (GRCm39) |
V62G |
probably damaging |
Het |
Tfip11 |
G |
A |
5: 112,482,191 (GRCm39) |
W483* |
probably null |
Het |
Tlk1 |
T |
C |
2: 70,552,012 (GRCm39) |
H553R |
probably benign |
Het |
Tnc |
T |
C |
4: 63,932,162 (GRCm39) |
|
probably null |
Het |
Trav12-1 |
A |
G |
14: 53,775,930 (GRCm39) |
T27A |
probably damaging |
Het |
Usp9y |
G |
A |
Y: 1,364,714 (GRCm39) |
T1033I |
probably benign |
Het |
V1ra8 |
C |
T |
6: 90,180,186 (GRCm39) |
H130Y |
probably benign |
Het |
Vmn2r77 |
A |
T |
7: 86,451,271 (GRCm39) |
M386L |
probably benign |
Het |
|
Other mutations in Chst10 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01947:Chst10
|
APN |
1 |
38,904,646 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- GGGTCATCAGAGCATCTGTC -3'
(R):5'- TCAAGTACAGTGTGGTCGGAC -3'
Sequencing Primer
(F):5'- GTCATCAGAGCATCTGTCACCTGAG -3'
(R):5'- GACACCATGAGACCCTGGAG -3'
|
Posted On |
2016-10-06 |