Incidental Mutation 'R9040:Chsy3'
ID |
687695 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Chsy3
|
Ensembl Gene |
ENSMUSG00000058152 |
Gene Name |
chondroitin sulfate synthase 3 |
Synonyms |
4833446K15Rik |
MMRRC Submission |
068867-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9040 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
59308412-59544408 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 59542760 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 633
(Y633H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000079546
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080721]
|
AlphaFold |
Q5DTK1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000080721
AA Change: Y633H
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000079546 Gene: ENSMUSG00000058152 AA Change: Y633H
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: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (59/59) |
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam34 |
A |
C |
8: 44,103,363 (GRCm39) |
|
probably benign |
Het |
Agap1 |
T |
C |
1: 89,671,466 (GRCm39) |
V391A |
probably damaging |
Het |
Apba2 |
C |
T |
7: 64,393,072 (GRCm39) |
A531V |
possibly damaging |
Het |
Apcdd1 |
T |
A |
18: 63,070,414 (GRCm39) |
V227E |
probably damaging |
Het |
Bbs7 |
A |
G |
3: 36,629,987 (GRCm39) |
V564A |
probably benign |
Het |
Ccdc154 |
T |
A |
17: 25,382,793 (GRCm39) |
M141K |
possibly damaging |
Het |
Cd200l1 |
C |
A |
16: 45,264,509 (GRCm39) |
K16N |
possibly damaging |
Het |
Cdk9 |
C |
A |
2: 32,597,999 (GRCm39) |
Q352H |
probably benign |
Het |
Cpz |
T |
A |
5: 35,672,835 (GRCm39) |
Y195F |
possibly damaging |
Het |
Cyp3a16 |
T |
C |
5: 145,392,922 (GRCm39) |
R128G |
possibly damaging |
Het |
Dhodh |
A |
T |
8: 110,328,781 (GRCm39) |
|
probably benign |
Het |
Dlec1 |
G |
A |
9: 118,950,985 (GRCm39) |
S517N |
probably benign |
Het |
Dock7 |
A |
T |
4: 98,889,364 (GRCm39) |
L175* |
probably null |
Het |
Duxf1 |
A |
G |
10: 58,059,608 (GRCm39) |
I382T |
unknown |
Het |
Ect2l |
A |
T |
10: 18,077,098 (GRCm39) |
S2T |
possibly damaging |
Het |
Epn3 |
G |
A |
11: 94,382,749 (GRCm39) |
S445F |
possibly damaging |
Het |
Gm40460 |
GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG |
GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG |
7: 141,794,171 (GRCm39) |
|
probably benign |
Het |
Gm7298 |
T |
C |
6: 121,764,438 (GRCm39) |
F1439S |
probably benign |
Het |
Hormad1 |
A |
T |
3: 95,487,470 (GRCm39) |
E289D |
possibly damaging |
Het |
Idua |
T |
C |
5: 108,828,929 (GRCm39) |
L391P |
probably damaging |
Het |
Kank2 |
G |
T |
9: 21,706,115 (GRCm39) |
A301E |
probably damaging |
Het |
Kcnk10 |
C |
T |
12: 98,401,098 (GRCm39) |
E526K |
probably benign |
Het |
Kif16b |
T |
C |
2: 142,691,798 (GRCm39) |
I229V |
probably benign |
Het |
Krt25 |
T |
C |
11: 99,207,379 (GRCm39) |
Y400C |
probably benign |
Het |
Krt26 |
C |
T |
11: 99,222,093 (GRCm39) |
G405S |
probably benign |
Het |
Krt42 |
G |
A |
11: 100,157,859 (GRCm39) |
R202W |
probably damaging |
Het |
Lbr |
A |
G |
1: 181,644,910 (GRCm39) |
V547A |
probably damaging |
Het |
Lrrc8b |
T |
C |
5: 105,628,161 (GRCm39) |
L169P |
probably benign |
Het |
Midn |
T |
A |
10: 79,989,918 (GRCm39) |
V262D |
probably damaging |
Het |
Mroh9 |
T |
A |
1: 162,890,069 (GRCm39) |
I223F |
probably benign |
Het |
Mtor |
C |
A |
4: 148,548,205 (GRCm39) |
A490E |
probably benign |
Het |
Muc16 |
G |
A |
9: 18,556,082 (GRCm39) |
Q3404* |
probably null |
Het |
Myo5a |
A |
T |
9: 75,081,341 (GRCm39) |
E975D |
probably benign |
Het |
Ncoa7 |
T |
C |
10: 30,530,389 (GRCm39) |
Y764C |
probably benign |
Het |
Nedd4l |
T |
C |
18: 65,342,734 (GRCm39) |
L769P |
probably damaging |
Het |
Or11g25 |
G |
T |
14: 50,722,995 (GRCm39) |
G27W |
probably benign |
Het |
Pank4 |
C |
G |
4: 155,064,559 (GRCm39) |
T706R |
probably benign |
Het |
Plxnc1 |
G |
T |
10: 94,779,379 (GRCm39) |
C354* |
probably null |
Het |
Prkca |
A |
G |
11: 107,905,186 (GRCm39) |
I184T |
possibly damaging |
Het |
Prune2 |
T |
C |
19: 17,097,991 (GRCm39) |
V1165A |
probably damaging |
Het |
Psmc6 |
T |
A |
14: 45,581,111 (GRCm39) |
D302E |
probably benign |
Het |
Rab11fip5 |
A |
G |
6: 85,324,915 (GRCm39) |
L464P |
probably damaging |
Het |
Reg1 |
A |
T |
6: 78,403,268 (GRCm39) |
|
probably benign |
Het |
Rhbdf1 |
T |
C |
11: 32,163,063 (GRCm39) |
T438A |
probably benign |
Het |
Ryr2 |
T |
C |
13: 11,609,672 (GRCm39) |
R4385G |
probably damaging |
Het |
Ryr3 |
A |
G |
2: 112,784,731 (GRCm39) |
Y237H |
probably damaging |
Het |
Scai |
G |
T |
2: 38,965,164 (GRCm39) |
T560K |
probably benign |
Het |
Scn1a |
A |
G |
2: 66,148,245 (GRCm39) |
L80P |
probably damaging |
Het |
Sez6 |
T |
C |
11: 77,864,762 (GRCm39) |
L574P |
probably benign |
Het |
Slc41a1 |
T |
G |
1: 131,768,623 (GRCm39) |
S194A |
probably damaging |
Het |
Slc6a7 |
T |
C |
18: 61,134,360 (GRCm39) |
|
probably benign |
Het |
Slit3 |
A |
G |
11: 35,594,136 (GRCm39) |
H1442R |
probably damaging |
Het |
Sra1 |
A |
T |
18: 36,808,790 (GRCm39) |
L281Q |
probably damaging |
Het |
Steap2 |
A |
T |
5: 5,732,722 (GRCm39) |
W101R |
probably benign |
Het |
Tfap2b |
C |
T |
1: 19,304,314 (GRCm39) |
R375W |
probably damaging |
Het |
Tfr2 |
A |
T |
5: 137,572,967 (GRCm39) |
T233S |
probably benign |
Het |
Traf3ip1 |
T |
A |
1: 91,429,092 (GRCm39) |
H286Q |
probably damaging |
Het |
Ubash3a |
A |
G |
17: 31,457,960 (GRCm39) |
|
probably benign |
Het |
Vmn2r85 |
A |
G |
10: 130,254,311 (GRCm39) |
I791T |
probably damaging |
Het |
Zkscan4 |
T |
C |
13: 21,668,229 (GRCm39) |
C256R |
probably benign |
Het |
Zscan4-ps3 |
A |
T |
7: 11,346,638 (GRCm39) |
N225Y |
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 |
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 |
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 |
|
Posted On |
2021-11-19 |