Incidental Mutation 'R8560:Chsy3'
ID |
661017 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Chsy3
|
Ensembl Gene |
ENSMUSG00000058152 |
Gene Name |
chondroitin sulfate synthase 3 |
Synonyms |
4833446K15Rik |
MMRRC Submission |
068523-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8560 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
59308412-59544408 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 59543130 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 756
(V756A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000079546
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080721]
|
AlphaFold |
Q5DTK1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000080721
AA Change: V756A
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000079546 Gene: ENSMUSG00000058152 AA Change: V756A
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.6%
|
Validation Efficiency |
98% (62/63) |
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aak1 |
T |
C |
6: 86,958,374 (GRCm39) |
V819A |
unknown |
Het |
Ahi1 |
T |
C |
10: 20,835,814 (GRCm39) |
V49A |
probably benign |
Het |
BB014433 |
GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTACACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG |
GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG |
8: 15,092,160 (GRCm39) |
|
probably benign |
Het |
Ccdc87 |
C |
T |
19: 4,891,901 (GRCm39) |
R798W |
probably damaging |
Het |
Cd163 |
T |
C |
6: 124,294,360 (GRCm39) |
L506S |
possibly damaging |
Het |
Cisd3 |
G |
T |
11: 97,576,689 (GRCm39) |
W5L |
possibly damaging |
Het |
Coro1c |
A |
T |
5: 113,984,249 (GRCm39) |
H339Q |
probably damaging |
Het |
Cybc1 |
G |
T |
11: 121,115,041 (GRCm39) |
A154D |
probably damaging |
Het |
D630045J12Rik |
T |
A |
6: 38,126,649 (GRCm39) |
I1454F |
probably damaging |
Het |
Dab2ip |
T |
C |
2: 35,603,144 (GRCm39) |
S448P |
probably damaging |
Het |
Dennd5a |
A |
G |
7: 109,533,898 (GRCm39) |
|
probably null |
Het |
Depdc1a |
A |
G |
3: 159,219,912 (GRCm39) |
K139E |
probably damaging |
Het |
Dock6 |
T |
C |
9: 21,714,132 (GRCm39) |
K1874R |
probably benign |
Het |
Dst |
A |
G |
1: 34,307,970 (GRCm39) |
H4229R |
probably damaging |
Het |
Esyt3 |
T |
C |
9: 99,202,375 (GRCm39) |
D512G |
probably damaging |
Het |
Fastkd5 |
T |
A |
2: 130,457,865 (GRCm39) |
I242L |
probably benign |
Het |
Foxo3 |
G |
A |
10: 42,151,278 (GRCm39) |
T51M |
possibly damaging |
Het |
Gcfc2 |
T |
C |
6: 81,900,863 (GRCm39) |
V59A |
possibly damaging |
Het |
Gm14410 |
C |
A |
2: 176,885,445 (GRCm39) |
C273F |
probably damaging |
Het |
Gucy1b1 |
G |
T |
3: 81,942,685 (GRCm39) |
P486T |
probably damaging |
Het |
Hydin |
A |
G |
8: 111,265,106 (GRCm39) |
N2763S |
probably benign |
Het |
Ifna2 |
C |
A |
4: 88,601,502 (GRCm39) |
W172L |
possibly damaging |
Het |
Igkv6-29 |
T |
C |
6: 70,115,651 (GRCm39) |
N48D |
probably benign |
Het |
Il17ra |
C |
A |
6: 120,459,226 (GRCm39) |
D792E |
possibly damaging |
Het |
Kcnh5 |
G |
T |
12: 75,023,379 (GRCm39) |
A563E |
probably damaging |
Het |
Klra4 |
C |
A |
6: 130,042,235 (GRCm39) |
V11L |
probably benign |
Het |
Krt13 |
T |
C |
11: 100,009,676 (GRCm39) |
E368G |
possibly damaging |
Het |
Lrpprc |
T |
A |
17: 85,047,495 (GRCm39) |
|
probably benign |
Het |
Mal2 |
T |
C |
15: 54,461,826 (GRCm39) |
I107T |
probably benign |
Het |
Mc4r |
T |
C |
18: 66,992,166 (GRCm39) |
I316V |
possibly damaging |
Het |
Mdn1 |
T |
A |
4: 32,743,830 (GRCm39) |
V4022E |
probably benign |
Het |
Med12l |
A |
G |
3: 58,945,026 (GRCm39) |
N84D |
probably damaging |
Het |
Mx1 |
T |
G |
16: 97,253,987 (GRCm39) |
T298P |
probably damaging |
Het |
Myh7 |
T |
C |
14: 55,213,405 (GRCm39) |
E1367G |
possibly damaging |
Het |
Myh7b |
A |
G |
2: 155,465,124 (GRCm39) |
E660G |
possibly damaging |
Het |
Nbeal1 |
T |
A |
1: 60,274,316 (GRCm39) |
N242K |
probably benign |
Het |
Nsun5 |
A |
G |
5: 135,404,743 (GRCm39) |
T435A |
probably benign |
Het |
Or14j4 |
C |
T |
17: 37,920,949 (GRCm39) |
S231N |
possibly damaging |
Het |
Or4q3 |
T |
A |
14: 50,583,794 (GRCm39) |
D4V |
probably benign |
Het |
Or5b109 |
T |
C |
19: 13,211,656 (GRCm39) |
L14P |
possibly damaging |
Het |
Pcdhb17 |
C |
T |
18: 37,619,206 (GRCm39) |
T332M |
possibly damaging |
Het |
Pi4k2a |
C |
T |
19: 42,089,151 (GRCm39) |
Q171* |
probably null |
Het |
Plb1 |
T |
C |
5: 32,460,023 (GRCm39) |
V421A |
possibly damaging |
Het |
Prkag2 |
TTTTTTTTTTTTA |
T |
5: 25,071,063 (GRCm39) |
|
probably benign |
Het |
Prlhr |
A |
G |
19: 60,456,635 (GRCm39) |
|
probably benign |
Het |
Prpf8 |
T |
A |
11: 75,382,600 (GRCm39) |
C435* |
probably null |
Het |
Rnf183 |
T |
A |
4: 62,346,735 (GRCm39) |
N21I |
probably damaging |
Het |
Rnf41 |
T |
A |
10: 128,274,222 (GRCm39) |
C291* |
probably null |
Het |
Shd |
T |
C |
17: 56,278,616 (GRCm39) |
S60P |
probably benign |
Het |
Slc16a5 |
A |
G |
11: 115,360,545 (GRCm39) |
T243A |
probably benign |
Het |
Slc33a1 |
A |
T |
3: 63,850,773 (GRCm39) |
I517N |
possibly damaging |
Het |
Slc4a1 |
A |
C |
11: 102,244,083 (GRCm39) |
M682R |
possibly damaging |
Het |
Sphk2 |
A |
T |
7: 45,361,514 (GRCm39) |
N245K |
probably damaging |
Het |
Stx7 |
T |
C |
10: 24,057,454 (GRCm39) |
I160T |
possibly damaging |
Het |
Thbs4 |
T |
C |
13: 92,891,608 (GRCm39) |
I836V |
probably damaging |
Het |
Tmc5 |
A |
T |
7: 118,268,514 (GRCm39) |
N861Y |
probably damaging |
Het |
Trappc5 |
T |
A |
8: 3,729,303 (GRCm39) |
W94R |
probably damaging |
Het |
Trmt44 |
T |
C |
5: 35,715,295 (GRCm39) |
I673V |
probably benign |
Het |
Ttn |
T |
C |
2: 76,571,615 (GRCm39) |
Y26426C |
probably damaging |
Het |
Wdr81 |
C |
T |
11: 75,336,260 (GRCm39) |
G591R |
|
Het |
Zfp236 |
G |
A |
18: 82,664,340 (GRCm39) |
R482W |
probably damaging |
Het |
Zfp51 |
T |
A |
17: 21,685,635 (GRCm39) |
M750K |
probably benign |
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 |
R6881:Chsy3
|
UTSW |
18 |
59,312,480 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- AAGGGAGAGTTTTCCAGAGGTC -3'
(R):5'- TGACTTCTGAAGGGCCGTAAG -3'
Sequencing Primer
(F):5'- CCAGAGGTCTTGGTCTTGAAATG -3'
(R):5'- CCGTAAGCCAGATAGGATGAC -3'
|
Posted On |
2021-03-08 |