Incidental Mutation 'R6881:Chsy3'
ID |
536693 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Chsy3
|
Ensembl Gene |
ENSMUSG00000058152 |
Gene Name |
chondroitin sulfate synthase 3 |
Synonyms |
4833446K15Rik |
MMRRC Submission |
045030-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6881 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
59308412-59544408 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 59312480 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 318
(I318V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000079546
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080721]
|
AlphaFold |
Q5DTK1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000080721
AA Change: I318V
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000079546 Gene: ENSMUSG00000058152 AA Change: I318V
Domain | Start | End | E-Value | Type |
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
low complexity region
|
60 |
78 |
N/A |
INTRINSIC |
low complexity region
|
84 |
96 |
N/A |
INTRINSIC |
low complexity region
|
125 |
144 |
N/A |
INTRINSIC |
Pfam:Fringe
|
169 |
410 |
9.4e-19 |
PFAM |
Pfam:CHGN
|
330 |
866 |
1.4e-194 |
PFAM |
Pfam:Glyco_tranf_2_2
|
652 |
841 |
1.8e-7 |
PFAM |
Pfam:Glyco_transf_7C
|
769 |
839 |
3.2e-12 |
PFAM |
|
Meta Mutation Damage Score |
0.0964 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
Validation Efficiency |
98% (53/54) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] CSS3 is a glycosyltransferase that has both glucuronyltransferase and N-acetylgalactosaminyltransferase activities (Yada et al., 2003 [PubMed 12907687]).[supplied by OMIM, Mar 2008]
|
Allele List at MGI |
All alleles(1) : Gene trapped(1)
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931406C07Rik |
A |
C |
9: 15,202,061 (GRCm39) |
C187G |
possibly damaging |
Het |
Abhd16a |
C |
T |
17: 35,315,577 (GRCm39) |
T208I |
probably benign |
Het |
Ahcyl1 |
A |
T |
3: 107,575,425 (GRCm39) |
H425Q |
probably damaging |
Het |
Ankrd22 |
T |
A |
19: 34,126,782 (GRCm39) |
N16I |
probably damaging |
Het |
Cc2d2b |
A |
G |
19: 40,813,483 (GRCm39) |
E1321G |
probably damaging |
Het |
Ccdc7b |
A |
G |
8: 129,799,028 (GRCm39) |
E35G |
probably damaging |
Het |
Clrn2 |
G |
A |
5: 45,611,164 (GRCm39) |
W4* |
probably null |
Het |
Cmip |
T |
C |
8: 118,163,334 (GRCm39) |
I355T |
possibly damaging |
Het |
Cmya5 |
C |
T |
13: 93,226,800 (GRCm39) |
V2763M |
probably damaging |
Het |
Cnnm2 |
T |
C |
19: 46,865,658 (GRCm39) |
S749P |
probably damaging |
Het |
Cyp1a1 |
G |
T |
9: 57,608,002 (GRCm39) |
R210L |
possibly damaging |
Het |
Dmxl1 |
G |
A |
18: 50,068,372 (GRCm39) |
S2715N |
probably benign |
Het |
Dync1h1 |
T |
C |
12: 110,590,995 (GRCm39) |
L1021P |
probably damaging |
Het |
Ecm2 |
C |
T |
13: 49,683,818 (GRCm39) |
Q599* |
probably null |
Het |
Galnt11 |
G |
T |
5: 25,455,097 (GRCm39) |
K144N |
possibly damaging |
Het |
Gm45861 |
A |
G |
8: 28,025,279 (GRCm39) |
|
probably null |
Het |
Kcnk18 |
T |
A |
19: 59,208,390 (GRCm39) |
D75E |
probably benign |
Het |
Kcnk2 |
C |
T |
1: 188,942,187 (GRCm39) |
V346M |
probably benign |
Het |
Klhl33 |
T |
A |
14: 51,128,929 (GRCm39) |
M767L |
probably benign |
Het |
Knl1 |
T |
C |
2: 118,925,665 (GRCm39) |
I1898T |
possibly damaging |
Het |
Lama5 |
G |
A |
2: 179,833,455 (GRCm39) |
P1519L |
probably damaging |
Het |
Lamp3 |
T |
C |
16: 19,518,368 (GRCm39) |
T290A |
probably benign |
Het |
Larp1 |
T |
A |
11: 57,940,849 (GRCm39) |
D658E |
probably damaging |
Het |
Macf1 |
T |
A |
4: 123,326,246 (GRCm39) |
I3521F |
probably damaging |
Het |
Med12l |
T |
C |
3: 59,174,586 (GRCm39) |
S1835P |
probably benign |
Het |
Mef2c |
C |
A |
13: 83,741,061 (GRCm39) |
N73K |
probably damaging |
Het |
Mtmr3 |
T |
C |
11: 4,439,725 (GRCm39) |
S572G |
probably benign |
Het |
Neto2 |
A |
T |
8: 86,367,185 (GRCm39) |
S520T |
probably damaging |
Het |
Or10ak16 |
A |
G |
4: 118,750,304 (GRCm39) |
N8S |
probably damaging |
Het |
Or1o4 |
A |
G |
17: 37,591,200 (GRCm39) |
L37S |
probably benign |
Het |
Or4c110 |
A |
T |
2: 88,832,281 (GRCm39) |
M117K |
probably damaging |
Het |
P3h2 |
G |
A |
16: 25,811,495 (GRCm39) |
R243C |
probably damaging |
Het |
Pld1 |
T |
C |
3: 28,132,563 (GRCm39) |
S584P |
possibly damaging |
Het |
Prkcz |
T |
C |
4: 155,353,513 (GRCm39) |
N278S |
possibly damaging |
Het |
Radil |
A |
G |
5: 142,472,672 (GRCm39) |
S913P |
probably benign |
Het |
Retreg2 |
A |
C |
1: 75,123,083 (GRCm39) |
Q337P |
probably damaging |
Het |
Sh3gl3 |
A |
G |
7: 81,956,178 (GRCm39) |
E305G |
possibly damaging |
Het |
Shank1 |
G |
T |
7: 44,001,217 (GRCm39) |
D979Y |
unknown |
Het |
Slc35a5 |
A |
T |
16: 44,964,443 (GRCm39) |
N263K |
possibly damaging |
Het |
Slc4a7 |
A |
T |
14: 14,737,452 (GRCm38) |
M127L |
probably benign |
Het |
Slc8a2 |
G |
A |
7: 15,891,282 (GRCm39) |
G774E |
probably damaging |
Het |
Smim45 |
C |
A |
15: 82,143,786 (GRCm39) |
H3N |
possibly damaging |
Het |
Snap91 |
A |
G |
9: 86,655,646 (GRCm39) |
S847P |
possibly damaging |
Het |
Stoml1 |
T |
C |
9: 58,168,177 (GRCm39) |
L296P |
probably damaging |
Het |
Tap1 |
G |
T |
17: 34,407,008 (GRCm39) |
G52V |
probably damaging |
Het |
Tent4b |
T |
C |
8: 88,977,416 (GRCm39) |
V363A |
possibly damaging |
Het |
Tnfrsf11b |
T |
C |
15: 54,117,539 (GRCm39) |
R239G |
probably benign |
Het |
Ttn |
T |
C |
2: 76,536,846 (GRCm39) |
Y34993C |
probably damaging |
Het |
Uchl1 |
T |
C |
5: 66,841,065 (GRCm39) |
F165L |
probably damaging |
Het |
Xrcc1 |
C |
T |
7: 24,246,776 (GRCm39) |
Q15* |
probably null |
Het |
Zkscan7 |
C |
G |
9: 122,717,766 (GRCm39) |
Q54E |
possibly damaging |
Het |
|
Other mutations in Chsy3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01472:Chsy3
|
APN |
18 |
59,309,439 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01543:Chsy3
|
APN |
18 |
59,543,472 (GRCm39) |
nonsense |
probably null |
|
IGL01627:Chsy3
|
APN |
18 |
59,309,367 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02232:Chsy3
|
APN |
18 |
59,542,383 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL02604:Chsy3
|
APN |
18 |
59,542,187 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02888:Chsy3
|
APN |
18 |
59,543,067 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03199:Chsy3
|
APN |
18 |
59,309,473 (GRCm39) |
missense |
probably damaging |
1.00 |
bajo
|
UTSW |
18 |
59,309,238 (GRCm39) |
frame shift |
probably null |
|
bajo2
|
UTSW |
18 |
59,309,491 (GRCm39) |
missense |
probably damaging |
1.00 |
inferior
|
UTSW |
18 |
59,309,487 (GRCm39) |
missense |
probably damaging |
1.00 |
P0045:Chsy3
|
UTSW |
18 |
59,542,078 (GRCm39) |
nonsense |
probably null |
|
R0456:Chsy3
|
UTSW |
18 |
59,309,550 (GRCm39) |
missense |
probably damaging |
1.00 |
R0605:Chsy3
|
UTSW |
18 |
59,542,125 (GRCm39) |
missense |
probably damaging |
0.97 |
R1068:Chsy3
|
UTSW |
18 |
59,543,361 (GRCm39) |
missense |
probably damaging |
1.00 |
R1479:Chsy3
|
UTSW |
18 |
59,541,985 (GRCm39) |
missense |
probably benign |
0.09 |
R1654:Chsy3
|
UTSW |
18 |
59,309,488 (GRCm39) |
missense |
probably damaging |
1.00 |
R1868:Chsy3
|
UTSW |
18 |
59,309,560 (GRCm39) |
splice site |
probably null |
|
R1938:Chsy3
|
UTSW |
18 |
59,542,584 (GRCm39) |
missense |
probably damaging |
1.00 |
R2114:Chsy3
|
UTSW |
18 |
59,312,561 (GRCm39) |
missense |
probably damaging |
1.00 |
R2146:Chsy3
|
UTSW |
18 |
59,309,544 (GRCm39) |
missense |
probably benign |
0.04 |
R3693:Chsy3
|
UTSW |
18 |
59,309,080 (GRCm39) |
missense |
possibly damaging |
0.88 |
R3787:Chsy3
|
UTSW |
18 |
59,542,070 (GRCm39) |
missense |
probably damaging |
1.00 |
R3811:Chsy3
|
UTSW |
18 |
59,309,242 (GRCm39) |
missense |
probably benign |
0.42 |
R3878:Chsy3
|
UTSW |
18 |
59,542,845 (GRCm39) |
missense |
probably damaging |
1.00 |
R4385:Chsy3
|
UTSW |
18 |
59,312,546 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4385:Chsy3
|
UTSW |
18 |
59,309,424 (GRCm39) |
missense |
probably benign |
0.00 |
R4512:Chsy3
|
UTSW |
18 |
59,543,259 (GRCm39) |
missense |
probably damaging |
1.00 |
R4734:Chsy3
|
UTSW |
18 |
59,312,485 (GRCm39) |
missense |
probably benign |
0.07 |
R4751:Chsy3
|
UTSW |
18 |
59,308,872 (GRCm39) |
missense |
possibly damaging |
0.66 |
R4982:Chsy3
|
UTSW |
18 |
59,542,839 (GRCm39) |
missense |
possibly damaging |
0.78 |
R4982:Chsy3
|
UTSW |
18 |
59,542,647 (GRCm39) |
missense |
probably benign |
0.07 |
R5032:Chsy3
|
UTSW |
18 |
59,312,543 (GRCm39) |
missense |
probably damaging |
1.00 |
R5088:Chsy3
|
UTSW |
18 |
59,312,607 (GRCm39) |
missense |
probably damaging |
1.00 |
R5220:Chsy3
|
UTSW |
18 |
59,543,102 (GRCm39) |
missense |
probably damaging |
0.99 |
R5257:Chsy3
|
UTSW |
18 |
59,542,866 (GRCm39) |
missense |
possibly damaging |
0.50 |
R5259:Chsy3
|
UTSW |
18 |
59,543,318 (GRCm39) |
missense |
probably damaging |
0.96 |
R5558:Chsy3
|
UTSW |
18 |
59,309,469 (GRCm39) |
missense |
probably damaging |
1.00 |
R5872:Chsy3
|
UTSW |
18 |
59,309,268 (GRCm39) |
missense |
probably damaging |
1.00 |
R5990:Chsy3
|
UTSW |
18 |
59,309,238 (GRCm39) |
frame shift |
probably null |
|
R5992:Chsy3
|
UTSW |
18 |
59,309,238 (GRCm39) |
frame shift |
probably null |
|
R6064:Chsy3
|
UTSW |
18 |
59,309,238 (GRCm39) |
frame shift |
probably null |
|
R6065:Chsy3
|
UTSW |
18 |
59,309,238 (GRCm39) |
frame shift |
probably null |
|
R6182:Chsy3
|
UTSW |
18 |
59,312,414 (GRCm39) |
missense |
probably benign |
0.00 |
R6985:Chsy3
|
UTSW |
18 |
59,309,560 (GRCm39) |
splice site |
probably null |
|
R7046:Chsy3
|
UTSW |
18 |
59,542,875 (GRCm39) |
missense |
probably benign |
0.00 |
R7078:Chsy3
|
UTSW |
18 |
59,309,149 (GRCm39) |
missense |
possibly damaging |
0.51 |
R7105:Chsy3
|
UTSW |
18 |
59,309,491 (GRCm39) |
missense |
probably damaging |
1.00 |
R7129:Chsy3
|
UTSW |
18 |
59,543,370 (GRCm39) |
missense |
probably damaging |
1.00 |
R7151:Chsy3
|
UTSW |
18 |
59,542,357 (GRCm39) |
missense |
possibly damaging |
0.55 |
R7224:Chsy3
|
UTSW |
18 |
59,542,047 (GRCm39) |
missense |
probably damaging |
1.00 |
R7860:Chsy3
|
UTSW |
18 |
59,542,299 (GRCm39) |
missense |
probably benign |
0.10 |
R7936:Chsy3
|
UTSW |
18 |
59,542,418 (GRCm39) |
missense |
probably damaging |
1.00 |
R8010:Chsy3
|
UTSW |
18 |
59,543,226 (GRCm39) |
missense |
probably damaging |
1.00 |
R8029:Chsy3
|
UTSW |
18 |
59,312,519 (GRCm39) |
missense |
possibly damaging |
0.87 |
R8215:Chsy3
|
UTSW |
18 |
59,308,941 (GRCm39) |
nonsense |
probably null |
|
R8332:Chsy3
|
UTSW |
18 |
59,542,087 (GRCm39) |
missense |
probably damaging |
0.98 |
R8375:Chsy3
|
UTSW |
18 |
59,312,585 (GRCm39) |
missense |
probably damaging |
1.00 |
R8560:Chsy3
|
UTSW |
18 |
59,543,130 (GRCm39) |
missense |
possibly damaging |
0.91 |
R8700:Chsy3
|
UTSW |
18 |
59,309,487 (GRCm39) |
missense |
probably damaging |
1.00 |
R9040:Chsy3
|
UTSW |
18 |
59,542,760 (GRCm39) |
missense |
probably damaging |
0.98 |
R9290:Chsy3
|
UTSW |
18 |
59,542,928 (GRCm39) |
missense |
probably benign |
0.00 |
R9413:Chsy3
|
UTSW |
18 |
59,309,170 (GRCm39) |
missense |
possibly damaging |
0.66 |
R9490:Chsy3
|
UTSW |
18 |
59,312,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- ATGGCGGAAATTCTCTCACTC -3'
(R):5'- AAGGTTATCTCGTCACACCTTC -3'
Sequencing Primer
(F):5'- GCGGAAATTCTCTCACTCCATTGAAC -3'
(R):5'- TCGTCACACCTTCAAGGC -3'
|
Posted On |
2018-10-18 |