Incidental Mutation 'IGL02355:Chst15'
ID |
289655 |
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 # |
IGL02355
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
131837509-131918957 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 131868401 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 340
(N340D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000079105
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077472]
[ENSMUST00000080215]
[ENSMUST00000124096]
|
AlphaFold |
Q91XQ5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000077472
AA Change: N340D
PolyPhen 2
Score 0.264 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000076682 Gene: ENSMUSG00000030930 AA Change: N340D
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 benign
Transcript: ENSMUST00000080215
AA Change: N340D
PolyPhen 2
Score 0.264 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000079105 Gene: ENSMUSG00000030930 AA Change: N340D
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam3 |
C |
A |
8: 25,187,207 (GRCm39) |
C428F |
probably damaging |
Het |
Alas1 |
T |
C |
9: 106,113,838 (GRCm39) |
Y469C |
probably damaging |
Het |
Asxl1 |
C |
T |
2: 153,243,706 (GRCm39) |
L1419F |
probably benign |
Het |
Bcan |
C |
T |
3: 87,901,449 (GRCm39) |
D418N |
possibly damaging |
Het |
Cdc42bpg |
A |
G |
19: 6,360,839 (GRCm39) |
D199G |
possibly damaging |
Het |
Col12a1 |
T |
G |
9: 79,537,993 (GRCm39) |
|
probably benign |
Het |
Cyp2c67 |
T |
A |
19: 39,631,849 (GRCm39) |
H116L |
probably benign |
Het |
Cyp2c67 |
G |
A |
19: 39,605,826 (GRCm39) |
R357* |
probably null |
Het |
Ears2 |
T |
C |
7: 121,643,773 (GRCm39) |
D395G |
probably benign |
Het |
Fam227a |
A |
T |
15: 79,528,139 (GRCm39) |
|
probably benign |
Het |
Fap |
A |
G |
2: 62,403,842 (GRCm39) |
V11A |
probably benign |
Het |
Ganc |
A |
G |
2: 120,264,238 (GRCm39) |
D397G |
probably damaging |
Het |
Gjb6 |
C |
A |
14: 57,361,752 (GRCm39) |
G170C |
possibly damaging |
Het |
Gria2 |
A |
T |
3: 80,614,244 (GRCm39) |
W599R |
probably damaging |
Het |
Gvin-ps5 |
T |
C |
7: 105,929,480 (GRCm39) |
|
noncoding transcript |
Het |
Ighv1-64 |
A |
G |
12: 115,471,236 (GRCm39) |
S94P |
probably benign |
Het |
Kifc3 |
C |
T |
8: 95,836,507 (GRCm39) |
A85T |
probably damaging |
Het |
Lifr |
G |
A |
15: 7,194,174 (GRCm39) |
|
probably null |
Het |
Lonp2 |
T |
G |
8: 87,350,874 (GRCm39) |
S21R |
probably benign |
Het |
Nxpe3 |
A |
G |
16: 55,710,949 (GRCm39) |
V30A |
probably benign |
Het |
Olfml1 |
T |
C |
7: 107,167,010 (GRCm39) |
V13A |
probably benign |
Het |
Or10w1 |
T |
C |
19: 13,632,597 (GRCm39) |
V268A |
probably benign |
Het |
Or1af1 |
A |
G |
2: 37,109,681 (GRCm39) |
Y60C |
probably damaging |
Het |
Pcnt |
G |
A |
10: 76,210,996 (GRCm39) |
Q2376* |
probably null |
Het |
Pglyrp2 |
A |
G |
17: 32,635,996 (GRCm39) |
L380P |
probably damaging |
Het |
Plin3 |
A |
G |
17: 56,593,636 (GRCm39) |
V26A |
probably benign |
Het |
Potefam1 |
T |
C |
2: 111,041,996 (GRCm39) |
|
probably benign |
Het |
Pramel25 |
A |
G |
4: 143,519,580 (GRCm39) |
S114G |
probably damaging |
Het |
Rims1 |
A |
G |
1: 22,522,288 (GRCm39) |
I470T |
probably damaging |
Het |
Rora |
T |
C |
9: 69,281,374 (GRCm39) |
Y329H |
probably damaging |
Het |
Scnn1b |
G |
A |
7: 121,516,770 (GRCm39) |
R503H |
probably damaging |
Het |
Sec14l1 |
A |
G |
11: 117,035,675 (GRCm39) |
D237G |
possibly damaging |
Het |
Selplg |
A |
G |
5: 113,957,467 (GRCm39) |
S280P |
probably benign |
Het |
Serpina12 |
A |
G |
12: 104,004,140 (GRCm39) |
L164P |
probably benign |
Het |
Sik2 |
C |
T |
9: 50,828,903 (GRCm39) |
W176* |
probably null |
Het |
Slc2a1 |
T |
C |
4: 118,993,612 (GRCm39) |
F483S |
possibly damaging |
Het |
Speg |
A |
G |
1: 75,400,559 (GRCm39) |
D2573G |
possibly damaging |
Het |
Stil |
C |
T |
4: 114,867,308 (GRCm39) |
S239L |
probably damaging |
Het |
Tmem94 |
C |
A |
11: 115,685,571 (GRCm39) |
S941R |
probably damaging |
Het |
Tnfrsf11b |
T |
A |
15: 54,115,778 (GRCm39) |
D273V |
probably damaging |
Het |
Tns2 |
A |
G |
15: 102,020,725 (GRCm39) |
T864A |
probably benign |
Het |
Zfpm2 |
A |
G |
15: 40,962,890 (GRCm39) |
H184R |
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 |
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 |
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 |
2015-04-16 |