Incidental Mutation 'IGL00659:Chst11'
| ID |
28287 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Chst11
|
| Ensembl Gene |
ENSMUSG00000034612 |
| Gene Name |
carbohydrate sulfotransferase 11 |
| Synonyms |
C4ST1, 1110020P09Rik, chondroitin 4, C4ST-1, C4ST |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00659
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
82821332-83031734 bp(+) (GRCm39) |
| Type of Mutation |
utr 3 prime |
| DNA Base Change (assembly) |
T to G
at 83027639 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045349
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040110]
|
| AlphaFold |
Q9JME2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040110
|
| SMART Domains |
Protein: ENSMUSP00000045349
Gene: ENSMUSG00000034612
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
Pfam:Sulfotransfer_2
|
108 |
344 |
5.6e-71 |
PFAM |
|
| 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 the N-acetylgalactosamine (GalNAc) residue of chondroitin. Chondroitin sulfate constitutes the predominant proteoglycan present in cartilage, and is distributed on the surfaces of many cells and extracellular matrices. A chromosomal translocation involving this gene and IgH, t(12;14)(q23;q32), has been reported in a patient with B-cell chronic lymphocytic leukemia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a null allele exhibit neonatal lethality associated with respiratory distress, dwarfism, and abnormal skeletal structures. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap4e1 |
T |
C |
2: 126,905,221 (GRCm39) |
V964A |
probably benign |
Het |
| Birc6 |
T |
A |
17: 74,967,648 (GRCm39) |
V4197E |
probably damaging |
Het |
| C8b |
T |
A |
4: 104,658,531 (GRCm39) |
|
probably benign |
Het |
| Cdh13 |
A |
G |
8: 120,039,406 (GRCm39) |
D616G |
probably damaging |
Het |
| Cfi |
A |
G |
3: 129,630,462 (GRCm39) |
K2E |
unknown |
Het |
| Chek1 |
C |
A |
9: 36,633,895 (GRCm39) |
|
probably null |
Het |
| Dhx29 |
A |
G |
13: 113,103,169 (GRCm39) |
|
probably benign |
Het |
| Erbb3 |
A |
G |
10: 128,406,852 (GRCm39) |
S1049P |
probably damaging |
Het |
| Fkbp15 |
T |
C |
4: 62,251,917 (GRCm39) |
|
probably benign |
Het |
| Fxr2 |
C |
A |
11: 69,531,076 (GRCm39) |
Q51K |
probably benign |
Het |
| Kpna7 |
T |
A |
5: 144,944,056 (GRCm39) |
I50F |
probably damaging |
Het |
| Mdm2 |
T |
C |
10: 117,538,204 (GRCm39) |
R65G |
possibly damaging |
Het |
| N4bp1 |
G |
T |
8: 87,588,430 (GRCm39) |
D169E |
probably damaging |
Het |
| Nlrp9a |
A |
G |
7: 26,257,050 (GRCm39) |
I134V |
probably benign |
Het |
| Plrg1 |
T |
A |
3: 82,977,980 (GRCm39) |
S400T |
probably damaging |
Het |
| Polr1b |
T |
C |
2: 128,960,020 (GRCm39) |
|
probably null |
Het |
| Sec23b |
T |
C |
2: 144,425,690 (GRCm39) |
|
probably null |
Het |
| Ubr4 |
C |
T |
4: 139,148,556 (GRCm39) |
T1680I |
probably damaging |
Het |
| Usp29 |
A |
G |
7: 6,965,281 (GRCm39) |
N375D |
probably benign |
Het |
| Wrn |
A |
G |
8: 33,812,405 (GRCm39) |
|
probably benign |
Het |
| Zfp422 |
G |
A |
6: 116,603,466 (GRCm39) |
Q178* |
probably null |
Het |
| Zfp938 |
T |
A |
10: 82,063,355 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Chst11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00339:Chst11
|
APN |
10 |
83,027,467 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02676:Chst11
|
APN |
10 |
83,027,563 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02999:Chst11
|
APN |
10 |
83,027,538 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL03368:Chst11
|
APN |
10 |
82,927,980 (GRCm39) |
missense |
probably benign |
0.39 |
|
lavoisier
|
UTSW |
10 |
83,027,020 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
Mendeleev
|
UTSW |
10 |
83,027,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB002:Chst11
|
UTSW |
10 |
83,026,788 (GRCm39) |
missense |
probably damaging |
0.98 |
|
BB012:Chst11
|
UTSW |
10 |
83,026,788 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1929:Chst11
|
UTSW |
10 |
83,027,004 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2271:Chst11
|
UTSW |
10 |
83,027,004 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4844:Chst11
|
UTSW |
10 |
83,026,923 (GRCm39) |
nonsense |
probably null |
|
|
R5040:Chst11
|
UTSW |
10 |
83,026,780 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5396:Chst11
|
UTSW |
10 |
83,027,083 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6512:Chst11
|
UTSW |
10 |
83,027,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6964:Chst11
|
UTSW |
10 |
83,027,215 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7803:Chst11
|
UTSW |
10 |
83,027,020 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7925:Chst11
|
UTSW |
10 |
83,026,788 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9194:Chst11
|
UTSW |
10 |
83,027,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9406:Chst11
|
UTSW |
10 |
83,026,881 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
X0033:Chst11
|
UTSW |
10 |
83,026,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-04-17 |
Incidental Mutation