Incidental Mutation 'IGL02999:Chst11'
| ID |
407233 |
| 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 # |
IGL02999
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
82821332-83031734 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 83027538 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 322
(I322V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045349
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040110]
|
| AlphaFold |
Q9JME2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000040110
AA Change: I322V
PolyPhen 2
Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000045349
Gene: ENSMUSG00000034612
AA Change: I322V
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610008E11Rik |
T |
A |
10: 78,903,424 (GRCm39) |
R297S |
possibly damaging |
Het |
| Abca13 |
G |
A |
11: 9,531,757 (GRCm39) |
|
probably benign |
Het |
| Acot12 |
T |
A |
13: 91,908,100 (GRCm39) |
V94D |
probably damaging |
Het |
| Adgrv1 |
C |
T |
13: 81,726,973 (GRCm39) |
A460T |
probably benign |
Het |
| Atp8a2 |
C |
A |
14: 60,162,571 (GRCm39) |
E717* |
probably null |
Het |
| Brinp3 |
A |
T |
1: 146,577,587 (GRCm39) |
|
probably null |
Het |
| Camk1d |
C |
A |
2: 5,359,516 (GRCm39) |
V177L |
probably benign |
Het |
| Cobl |
T |
C |
11: 12,293,869 (GRCm39) |
T296A |
possibly damaging |
Het |
| Dcc |
A |
C |
18: 71,511,749 (GRCm39) |
F869V |
possibly damaging |
Het |
| Dock2 |
G |
T |
11: 34,583,086 (GRCm39) |
T609K |
probably damaging |
Het |
| Ercc5 |
A |
G |
1: 44,206,814 (GRCm39) |
T576A |
probably benign |
Het |
| Faf1 |
A |
G |
4: 109,719,090 (GRCm39) |
I399V |
probably benign |
Het |
| Fndc3b |
T |
G |
3: 27,592,388 (GRCm39) |
E170A |
probably damaging |
Het |
| Ggt7 |
C |
A |
2: 155,344,633 (GRCm39) |
V237L |
probably benign |
Het |
| Hectd1 |
G |
T |
12: 51,874,205 (GRCm39) |
Q24K |
possibly damaging |
Het |
| Krt19 |
T |
C |
11: 100,032,235 (GRCm39) |
|
probably benign |
Het |
| Lilrb4a |
T |
C |
10: 51,370,239 (GRCm39) |
L259P |
probably damaging |
Het |
| Limd1 |
T |
C |
9: 123,345,864 (GRCm39) |
Y548H |
probably damaging |
Het |
| Lingo2 |
A |
G |
4: 35,708,744 (GRCm39) |
I412T |
probably damaging |
Het |
| Lrrc34 |
T |
A |
3: 30,688,782 (GRCm39) |
Q173L |
probably damaging |
Het |
| Lrrn3 |
A |
T |
12: 41,502,750 (GRCm39) |
N522K |
probably benign |
Het |
| Mgat4e |
A |
C |
1: 134,468,928 (GRCm39) |
L372R |
probably damaging |
Het |
| Nedd4l |
A |
G |
18: 65,331,778 (GRCm39) |
D638G |
probably damaging |
Het |
| Olfm3 |
T |
C |
3: 114,916,397 (GRCm39) |
M423T |
probably damaging |
Het |
| Or8g54 |
T |
C |
9: 39,706,752 (GRCm39) |
L27P |
probably damaging |
Het |
| Pcsk7 |
T |
A |
9: 45,838,897 (GRCm39) |
I603N |
possibly damaging |
Het |
| Ptpn2 |
A |
G |
18: 67,814,580 (GRCm39) |
V143A |
probably damaging |
Het |
| Rabgap1 |
C |
A |
2: 37,373,838 (GRCm39) |
D283E |
possibly damaging |
Het |
| Reln |
G |
A |
5: 22,200,363 (GRCm39) |
S1379F |
probably damaging |
Het |
| Rpap2 |
T |
A |
5: 107,749,697 (GRCm39) |
F74I |
possibly damaging |
Het |
| Sel1l2 |
T |
C |
2: 140,072,724 (GRCm39) |
E637G |
probably damaging |
Het |
| Slc28a2b |
T |
C |
2: 122,344,995 (GRCm39) |
|
probably benign |
Het |
| St18 |
T |
A |
1: 6,887,829 (GRCm39) |
V466E |
probably benign |
Het |
| Stac |
C |
A |
9: 111,433,198 (GRCm39) |
G207C |
probably damaging |
Het |
| Stra6 |
T |
A |
9: 58,042,396 (GRCm39) |
N8K |
probably benign |
Het |
| Sytl4 |
C |
T |
X: 132,838,727 (GRCm39) |
R649Q |
probably benign |
Het |
| Tas1r3 |
A |
G |
4: 155,946,816 (GRCm39) |
V263A |
probably damaging |
Het |
| Tprg1 |
T |
C |
16: 25,136,218 (GRCm39) |
Y70H |
probably damaging |
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 |
|
IGL00659:Chst11
|
APN |
10 |
83,027,639 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02676:Chst11
|
APN |
10 |
83,027,563 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2016-08-02 |
Incidental Mutation