Incidental Mutation 'IGL03331:Chst15'
| ID |
416881 |
| 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 # |
IGL03331
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
131837509-131918957 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 131864442 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 387
(L387P)
|
| 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: L387P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000076682
Gene: ENSMUSG00000030930
AA Change: L387P
| 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: L387P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000079105
Gene: ENSMUSG00000030930
AA Change: L387P
| 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 |
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap11 |
C |
A |
14: 78,751,305 (GRCm39) |
D361Y |
probably damaging |
Het |
| Arhgap10 |
T |
C |
8: 78,146,711 (GRCm39) |
N231S |
probably damaging |
Het |
| Asb15 |
A |
T |
6: 24,556,523 (GRCm39) |
D6V |
possibly damaging |
Het |
| C1qb |
G |
A |
4: 136,607,604 (GRCm39) |
A253V |
probably damaging |
Het |
| Ccdc178 |
G |
T |
18: 21,944,640 (GRCm39) |
|
probably null |
Het |
| Clca3b |
T |
A |
3: 144,533,724 (GRCm39) |
E550D |
probably benign |
Het |
| Dnah5 |
A |
G |
15: 28,420,086 (GRCm39) |
K3795E |
probably damaging |
Het |
| Dppa2 |
T |
C |
16: 48,134,242 (GRCm39) |
|
probably benign |
Het |
| Epb41l5 |
T |
C |
1: 119,545,149 (GRCm39) |
Y220C |
probably damaging |
Het |
| Fkbpl |
C |
T |
17: 34,864,661 (GRCm39) |
T143I |
probably damaging |
Het |
| Gbe1 |
T |
G |
16: 70,230,466 (GRCm39) |
Y155D |
probably damaging |
Het |
| Gm1979 |
T |
C |
5: 26,207,008 (GRCm39) |
K69R |
probably damaging |
Het |
| Gna14 |
G |
A |
19: 16,586,832 (GRCm39) |
V336M |
probably damaging |
Het |
| Gpr37 |
A |
G |
6: 25,669,728 (GRCm39) |
V372A |
probably benign |
Het |
| H2bc12 |
T |
C |
13: 22,220,443 (GRCm39) |
|
probably benign |
Het |
| Herc2 |
C |
A |
7: 55,785,015 (GRCm39) |
|
probably benign |
Het |
| Krt20 |
T |
C |
11: 99,326,256 (GRCm39) |
|
probably null |
Het |
| Lman1 |
T |
C |
18: 66,126,275 (GRCm39) |
T284A |
probably benign |
Het |
| Matn2 |
A |
T |
15: 34,345,503 (GRCm39) |
D170V |
probably damaging |
Het |
| Morc1 |
C |
A |
16: 48,432,731 (GRCm39) |
|
probably benign |
Het |
| Necap1 |
T |
A |
6: 122,857,376 (GRCm39) |
S34T |
probably benign |
Het |
| Nt5c3b |
T |
C |
11: 100,327,041 (GRCm39) |
Y85C |
probably damaging |
Het |
| Or2t6 |
C |
A |
14: 14,176,017 (GRCm38) |
A22S |
probably benign |
Het |
| Or5b102 |
T |
A |
19: 13,041,231 (GRCm39) |
L152H |
probably damaging |
Het |
| Papln |
A |
G |
12: 83,830,435 (GRCm39) |
M1016V |
probably benign |
Het |
| Pld1 |
T |
C |
3: 28,139,994 (GRCm39) |
F605L |
probably damaging |
Het |
| Rbms2 |
T |
A |
10: 127,969,504 (GRCm39) |
|
probably benign |
Het |
| Rps6kb1 |
A |
T |
11: 86,423,656 (GRCm39) |
V108E |
probably damaging |
Het |
| Scap |
T |
C |
9: 110,209,304 (GRCm39) |
|
probably null |
Het |
| Serpina1f |
T |
C |
12: 103,657,150 (GRCm39) |
I307M |
probably benign |
Het |
| Tchh |
A |
G |
3: 93,350,725 (GRCm39) |
D55G |
probably damaging |
Het |
| Tnfaip3 |
G |
T |
10: 18,887,349 (GRCm39) |
Q59K |
possibly damaging |
Het |
| Vcan |
A |
G |
13: 89,810,051 (GRCm39) |
C2287R |
probably damaging |
Het |
| Vmn2r6 |
T |
C |
3: 64,445,428 (GRCm39) |
N766D |
probably damaging |
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 |
|
IGL03266:Chst15
|
APN |
7 |
131,871,805 (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