Incidental Mutation 'IGL03266:Chst15'
| ID |
415087 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Chst15
|
| Ensembl Gene |
ENSMUSG00000030930 |
| Gene Name |
carbohydrate sulfotransferase 15 |
| Synonyms |
4631426J05Rik, GalNAcS-6ST, MAd5, MAd5 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
IGL03266
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
131837509-131918957 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 131871805 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 159
(I159F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000079105
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077472]
[ENSMUST00000080215]
[ENSMUST00000124096]
|
| AlphaFold |
Q91XQ5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000077472
AA Change: I159F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000076682
Gene: ENSMUSG00000030930
AA Change: I159F
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
80 |
102 |
N/A |
INTRINSIC |
|
Pfam:Sulfotransfer_3
|
254 |
502 |
4.2e-10 |
PFAM |
|
Pfam:Sulfotransfer_1
|
369 |
524 |
1.1e-12 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000080215
AA Change: I159F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000079105
Gene: ENSMUSG00000030930
AA Change: I159F
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
80 |
102 |
N/A |
INTRINSIC |
|
Pfam:Sulfotransfer_3
|
254 |
499 |
7.9e-9 |
PFAM |
|
Pfam:Sulfotransfer_1
|
369 |
524 |
1.2e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124096
|
| SMART Domains |
Protein: ENSMUSP00000130971
Gene: ENSMUSG00000030849
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
1 |
118 |
4.8e-19 |
PFAM |
|
Pfam:Pkinase_Tyr
|
1 |
118 |
1.7e-50 |
PFAM |
|
low complexity region
|
146 |
160 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132508
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Chondroitin sulfate (CS) is a glycosaminoglycan which is an important structural component of the extracellular matrix and which links to proteins to form proteoglycans. Chondroitin sulfate E (CS-E) is an isomer of chondroitin sulfate in which the C-4 and C-6 hydroxyl groups are sulfated. This gene encodes a type II transmembrane glycoprotein that acts as a sulfotransferase to transfer sulfate to the C-6 hydroxal group of chondroitin sulfate. This gene has also been identified as being co-expressed with RAG1 in B-cells and as potentially acting as a B-cell surface signaling receptor. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased litter size and abnormal bone marrow-derived mast cell morphology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb1 |
A |
T |
6: 88,815,916 (GRCm39) |
V185E |
probably damaging |
Het |
| Acly |
T |
C |
11: 100,374,578 (GRCm39) |
E815G |
probably damaging |
Het |
| Actr10 |
T |
G |
12: 71,003,440 (GRCm39) |
S261A |
probably benign |
Het |
| Als2cl |
T |
C |
9: 110,719,924 (GRCm39) |
V504A |
possibly damaging |
Het |
| Btla |
T |
C |
16: 45,059,638 (GRCm39) |
I114T |
probably damaging |
Het |
| Cacna2d3 |
T |
A |
14: 29,022,705 (GRCm39) |
I348L |
probably benign |
Het |
| Creld1 |
T |
A |
6: 113,466,558 (GRCm39) |
H208Q |
probably benign |
Het |
| Fap |
C |
T |
2: 62,367,366 (GRCm39) |
V334I |
probably benign |
Het |
| Fat2 |
C |
T |
11: 55,174,855 (GRCm39) |
V1953M |
possibly damaging |
Het |
| Fgfr3 |
G |
A |
5: 33,891,709 (GRCm39) |
A595T |
probably damaging |
Het |
| Gm8122 |
T |
A |
14: 43,090,116 (GRCm39) |
M125L |
unknown |
Het |
| Itprid2 |
G |
A |
2: 79,472,534 (GRCm39) |
|
probably null |
Het |
| Klk1b1 |
T |
G |
7: 43,619,900 (GRCm39) |
L153R |
probably benign |
Het |
| Lrig3 |
T |
A |
10: 125,849,151 (GRCm39) |
M957K |
probably benign |
Het |
| Mc3r |
C |
T |
2: 172,091,189 (GRCm39) |
A137V |
probably benign |
Het |
| Met |
T |
A |
6: 17,540,537 (GRCm39) |
L821Q |
possibly damaging |
Het |
| Mrps17 |
T |
C |
5: 129,793,806 (GRCm39) |
|
probably benign |
Het |
| Myh2 |
A |
G |
11: 67,067,150 (GRCm39) |
T202A |
probably benign |
Het |
| Nae1 |
T |
C |
8: 105,239,828 (GRCm39) |
|
probably benign |
Het |
| Pkhd1l1 |
T |
A |
15: 44,402,348 (GRCm39) |
I2240N |
probably damaging |
Het |
| Stat6 |
T |
C |
10: 127,493,024 (GRCm39) |
L552P |
possibly damaging |
Het |
| Trbv3 |
C |
A |
6: 41,025,658 (GRCm39) |
Q83K |
probably benign |
Het |
| Uaca |
A |
T |
9: 60,770,689 (GRCm39) |
D344V |
probably damaging |
Het |
| Ube2q2l |
T |
C |
6: 136,377,921 (GRCm39) |
E303G |
probably damaging |
Het |
| Uggt1 |
A |
T |
1: 36,189,129 (GRCm39) |
D1452E |
probably damaging |
Het |
| Vwf |
T |
C |
6: 125,655,040 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Chst15 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01710:Chst15
|
APN |
7 |
131,872,236 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL01879:Chst15
|
APN |
7 |
131,871,994 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02355:Chst15
|
APN |
7 |
131,868,401 (GRCm39) |
missense |
probably benign |
0.26 |
|
IGL02362:Chst15
|
APN |
7 |
131,868,401 (GRCm39) |
missense |
probably benign |
0.26 |
|
IGL02826:Chst15
|
APN |
7 |
131,868,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02860:Chst15
|
APN |
7 |
131,870,831 (GRCm39) |
missense |
probably benign |
|
|
IGL02972:Chst15
|
APN |
7 |
131,870,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03331:Chst15
|
APN |
7 |
131,864,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03375:Chst15
|
APN |
7 |
131,872,186 (GRCm39) |
nonsense |
probably null |
|
|
R1476:Chst15
|
UTSW |
7 |
131,872,002 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1501:Chst15
|
UTSW |
7 |
131,870,798 (GRCm39) |
nonsense |
probably null |
|
|
R1518:Chst15
|
UTSW |
7 |
131,871,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1943:Chst15
|
UTSW |
7 |
131,864,579 (GRCm39) |
splice site |
probably null |
|
|
R2164:Chst15
|
UTSW |
7 |
131,872,114 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3947:Chst15
|
UTSW |
7 |
131,849,604 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4921:Chst15
|
UTSW |
7 |
131,849,613 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5817:Chst15
|
UTSW |
7 |
131,870,876 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5817:Chst15
|
UTSW |
7 |
131,870,873 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5917:Chst15
|
UTSW |
7 |
131,872,246 (GRCm39) |
missense |
probably benign |
|
|
R6930:Chst15
|
UTSW |
7 |
131,870,759 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7159:Chst15
|
UTSW |
7 |
131,871,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7911:Chst15
|
UTSW |
7 |
131,872,251 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8282:Chst15
|
UTSW |
7 |
131,871,879 (GRCm39) |
missense |
probably benign |
|
|
R8342:Chst15
|
UTSW |
7 |
131,849,615 (GRCm39) |
missense |
probably benign |
0.15 |
|
R9011:Chst15
|
UTSW |
7 |
131,872,246 (GRCm39) |
missense |
probably benign |
|
|
R9093:Chst15
|
UTSW |
7 |
131,870,646 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9329:Chst15
|
UTSW |
7 |
131,868,520 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R9352:Chst15
|
UTSW |
7 |
131,872,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation