Incidental Mutation 'IGL02826:Chst15'
| ID |
361213 |
| 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: 0.079)
|
| Stock # |
IGL02826
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
131837509-131918957 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 131868475 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 315
(D315V)
|
| 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: D315V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000076682
Gene: ENSMUSG00000030930
AA Change: D315V
| 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: D315V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000079105
Gene: ENSMUSG00000030930
AA Change: D315V
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A3galt2 |
T |
C |
4: 128,655,302 (GRCm39) |
|
probably benign |
Het |
| Alk |
C |
T |
17: 72,176,531 (GRCm39) |
G1591D |
probably damaging |
Het |
| Angptl2 |
T |
C |
2: 33,118,327 (GRCm39) |
S34P |
probably benign |
Het |
| Atp2a2 |
A |
G |
5: 122,627,354 (GRCm39) |
V137A |
probably benign |
Het |
| Atp8b5 |
A |
G |
4: 43,366,770 (GRCm39) |
M845V |
probably damaging |
Het |
| Camk1d |
A |
G |
2: 5,570,571 (GRCm39) |
V30A |
possibly damaging |
Het |
| Ceacam19 |
G |
A |
7: 19,616,535 (GRCm39) |
T193I |
probably benign |
Het |
| Cfap298 |
A |
C |
16: 90,722,950 (GRCm39) |
D261E |
probably benign |
Het |
| Cux1 |
G |
T |
5: 136,336,857 (GRCm39) |
P885Q |
probably damaging |
Het |
| Cyth1 |
C |
T |
11: 118,076,307 (GRCm39) |
E88K |
possibly damaging |
Het |
| Dido1 |
A |
G |
2: 180,325,751 (GRCm39) |
V479A |
probably benign |
Het |
| Dlc1 |
G |
T |
8: 37,037,429 (GRCm39) |
|
probably benign |
Het |
| H2-Ab1 |
G |
A |
17: 34,483,885 (GRCm39) |
R82Q |
probably damaging |
Het |
| Hps6 |
T |
A |
19: 45,994,480 (GRCm39) |
*806K |
probably null |
Het |
| Ilf3 |
T |
C |
9: 21,309,340 (GRCm39) |
S486P |
probably benign |
Het |
| Kdm1b |
C |
A |
13: 47,233,943 (GRCm39) |
T759K |
probably damaging |
Het |
| Kirrel1 |
C |
A |
3: 86,995,792 (GRCm39) |
V381F |
probably damaging |
Het |
| Kmt2b |
A |
T |
7: 30,276,569 (GRCm39) |
V1701E |
probably damaging |
Het |
| Lrmda |
T |
C |
14: 22,878,805 (GRCm39) |
Y100H |
probably damaging |
Het |
| Mastl |
T |
C |
2: 23,035,421 (GRCm39) |
I169V |
probably damaging |
Het |
| Mroh2b |
A |
G |
15: 4,991,630 (GRCm39) |
E1576G |
probably damaging |
Het |
| Nek3 |
A |
T |
8: 22,650,384 (GRCm39) |
|
probably null |
Het |
| Nipal3 |
G |
T |
4: 135,195,861 (GRCm39) |
Y247* |
probably null |
Het |
| Nt5e |
A |
C |
9: 88,237,758 (GRCm39) |
K229N |
probably damaging |
Het |
| Opa1 |
A |
G |
16: 29,429,705 (GRCm39) |
M290V |
probably null |
Het |
| Or2a14 |
A |
G |
6: 43,130,511 (GRCm39) |
I91V |
possibly damaging |
Het |
| Or8d6 |
G |
T |
9: 39,854,254 (GRCm39) |
G233C |
probably damaging |
Het |
| Parp2 |
T |
A |
14: 51,052,872 (GRCm39) |
I155K |
probably benign |
Het |
| Pde4dip |
G |
T |
3: 97,674,403 (GRCm39) |
A171E |
probably damaging |
Het |
| Prom2 |
C |
T |
2: 127,373,036 (GRCm39) |
E678K |
probably benign |
Het |
| Rab12 |
A |
G |
17: 66,805,111 (GRCm39) |
|
probably benign |
Het |
| Rgs8 |
A |
T |
1: 153,546,545 (GRCm39) |
T13S |
probably damaging |
Het |
| Setd3 |
A |
G |
12: 108,078,383 (GRCm39) |
|
probably benign |
Het |
| Shisal1 |
A |
G |
15: 84,304,330 (GRCm39) |
|
probably benign |
Het |
| Slx4ip |
G |
A |
2: 136,846,893 (GRCm39) |
V53I |
probably damaging |
Het |
| Stil |
A |
G |
4: 114,881,295 (GRCm39) |
D613G |
probably benign |
Het |
| Tektip1 |
A |
G |
10: 81,200,570 (GRCm39) |
|
probably benign |
Het |
| Tjp3 |
T |
A |
10: 81,109,523 (GRCm39) |
S858C |
probably damaging |
Het |
| Tmem215 |
A |
G |
4: 40,474,632 (GRCm39) |
*236W |
probably null |
Het |
| Ttbk1 |
A |
G |
17: 46,781,586 (GRCm39) |
V389A |
probably benign |
Het |
| Wdfy4 |
A |
G |
14: 32,693,707 (GRCm39) |
F2706S |
possibly damaging |
Het |
| Xpo4 |
C |
A |
14: 57,866,877 (GRCm39) |
V222L |
possibly damaging |
Het |
| Zfc3h1 |
A |
G |
10: 115,236,809 (GRCm39) |
S428G |
probably benign |
Het |
| Zfp286 |
T |
C |
11: 62,678,786 (GRCm39) |
Q47R |
probably damaging |
Het |
| Zfp318 |
A |
G |
17: 46,709,680 (GRCm39) |
K468E |
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 |
|
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 |
|
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 |
2015-12-18 |
Incidental Mutation