Incidental Mutation 'R7151:Chsy3'
ID |
554169 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Chsy3
|
Ensembl Gene |
ENSMUSG00000058152 |
Gene Name |
chondroitin sulfate synthase 3 |
Synonyms |
4833446K15Rik |
MMRRC Submission |
045253-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7151 (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 A
at 59542357 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 498
(D498E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000079546
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080721]
|
AlphaFold |
Q5DTK1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000080721
AA Change: D498E
PolyPhen 2
Score 0.554 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000079546 Gene: ENSMUSG00000058152 AA Change: D498E
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: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
|
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: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6330409D20Rik |
T |
A |
2: 32,630,618 (GRCm39) |
Q52L |
unknown |
Het |
Acsl1 |
A |
G |
8: 46,966,634 (GRCm39) |
D202G |
probably damaging |
Het |
Adam3 |
A |
T |
8: 25,185,271 (GRCm39) |
C476S |
probably damaging |
Het |
Adam34 |
T |
A |
8: 44,104,499 (GRCm39) |
E382V |
probably benign |
Het |
Akap5 |
G |
A |
12: 76,375,023 (GRCm39) |
V152I |
probably benign |
Het |
Aldh5a1 |
C |
T |
13: 25,121,382 (GRCm39) |
W57* |
probably null |
Het |
Angptl2 |
C |
T |
2: 33,133,922 (GRCm39) |
Q415* |
probably null |
Het |
Bnc1 |
G |
T |
7: 81,623,055 (GRCm39) |
T724N |
possibly damaging |
Het |
Brca2 |
T |
C |
5: 150,464,901 (GRCm39) |
V1555A |
probably benign |
Het |
Btn1a1 |
T |
A |
13: 23,643,483 (GRCm39) |
D322V |
probably damaging |
Het |
Ddx24 |
T |
C |
12: 103,390,347 (GRCm39) |
T215A |
probably benign |
Het |
Dhx57 |
A |
T |
17: 80,580,476 (GRCm39) |
V492E |
probably damaging |
Het |
Dnhd1 |
G |
A |
7: 105,359,234 (GRCm39) |
R3523Q |
probably benign |
Het |
Dock3 |
T |
A |
9: 106,841,916 (GRCm39) |
D971V |
possibly damaging |
Het |
Ercc8 |
T |
C |
13: 108,323,816 (GRCm39) |
|
probably null |
Het |
Erich5 |
T |
A |
15: 34,471,095 (GRCm39) |
L108Q |
probably damaging |
Het |
F5 |
A |
T |
1: 164,029,230 (GRCm39) |
Y1743F |
probably damaging |
Het |
Gale |
T |
C |
4: 135,694,503 (GRCm39) |
V243A |
probably damaging |
Het |
Gspt1 |
T |
A |
16: 11,071,692 (GRCm39) |
Q57L |
probably benign |
Het |
Gtf3a |
C |
A |
5: 146,888,085 (GRCm39) |
Q129K |
probably benign |
Het |
Heyl |
T |
C |
4: 123,140,254 (GRCm39) |
V271A |
probably benign |
Het |
Hsd17b4 |
T |
C |
18: 50,261,437 (GRCm39) |
F7L |
probably damaging |
Het |
Hspa12a |
T |
C |
19: 58,810,594 (GRCm39) |
T150A |
probably benign |
Het |
Ift140 |
T |
A |
17: 25,274,699 (GRCm39) |
D790E |
probably damaging |
Het |
Igkv4-69 |
T |
A |
6: 69,260,917 (GRCm39) |
Y70F |
probably damaging |
Het |
Il1rap |
T |
C |
16: 26,530,878 (GRCm39) |
Y405H |
probably damaging |
Het |
Insyn2a |
A |
C |
7: 134,520,374 (GRCm39) |
I52S |
probably damaging |
Het |
Irf2bpl |
G |
T |
12: 86,930,127 (GRCm39) |
P182Q |
probably benign |
Het |
Itm2b |
C |
A |
14: 73,605,829 (GRCm39) |
|
probably benign |
Het |
Kcnc2 |
T |
C |
10: 112,294,414 (GRCm39) |
V106A |
possibly damaging |
Het |
Krt87 |
C |
A |
15: 101,387,529 (GRCm39) |
D170Y |
probably damaging |
Het |
Lca5 |
T |
A |
9: 83,280,693 (GRCm39) |
Y369F |
probably benign |
Het |
Mgat5 |
T |
A |
1: 127,373,999 (GRCm39) |
D466E |
probably damaging |
Het |
Mier3 |
C |
T |
13: 111,851,302 (GRCm39) |
P428L |
probably benign |
Het |
Myo6 |
T |
C |
9: 80,152,418 (GRCm39) |
Y167H |
unknown |
Het |
Neu2 |
A |
G |
1: 87,524,297 (GRCm39) |
E94G |
probably benign |
Het |
Nlrp9a |
A |
T |
7: 26,256,672 (GRCm39) |
K97* |
probably null |
Het |
Npdc1 |
A |
G |
2: 25,299,120 (GRCm39) |
M306V |
probably damaging |
Het |
Odf2l |
A |
T |
3: 144,832,827 (GRCm39) |
N95I |
probably benign |
Het |
Or10j3 |
A |
G |
1: 173,031,633 (GRCm39) |
K237E |
probably damaging |
Het |
Or13d1 |
G |
T |
4: 52,970,665 (GRCm39) |
V15L |
probably benign |
Het |
Or5t16 |
A |
G |
2: 86,819,385 (GRCm39) |
V45A |
probably benign |
Het |
Or7g21 |
A |
G |
9: 19,033,037 (GRCm39) |
Y259C |
possibly damaging |
Het |
P2ry12 |
A |
G |
3: 59,125,127 (GRCm39) |
F183L |
probably benign |
Het |
Proser3 |
A |
G |
7: 30,239,749 (GRCm39) |
F452L |
possibly damaging |
Het |
Ptgfrn |
G |
T |
3: 100,987,511 (GRCm39) |
Y117* |
probably null |
Het |
Rab3gap2 |
G |
T |
1: 184,980,250 (GRCm39) |
V360F |
probably benign |
Het |
Rp1l1 |
A |
T |
14: 64,266,475 (GRCm39) |
D687V |
possibly damaging |
Het |
Rxfp2 |
T |
G |
5: 149,966,572 (GRCm39) |
N103K |
probably benign |
Het |
Scfd2 |
T |
A |
5: 74,558,326 (GRCm39) |
Q517L |
possibly damaging |
Het |
Scnn1b |
G |
A |
7: 121,517,109 (GRCm39) |
A582T |
probably damaging |
Het |
Serpinb6e |
T |
C |
13: 34,021,818 (GRCm39) |
E170G |
probably damaging |
Het |
Serpinb8 |
T |
A |
1: 107,533,527 (GRCm39) |
V194E |
probably damaging |
Het |
Sgcz |
T |
A |
8: 38,006,833 (GRCm39) |
H191L |
possibly damaging |
Het |
Sirt1 |
A |
T |
10: 63,159,775 (GRCm39) |
L435Q |
probably damaging |
Het |
Sorcs1 |
G |
A |
19: 50,301,420 (GRCm39) |
P315S |
probably damaging |
Het |
Spdef |
T |
A |
17: 27,939,134 (GRCm39) |
S71C |
possibly damaging |
Het |
Spta1 |
T |
A |
1: 174,025,317 (GRCm39) |
H727Q |
probably damaging |
Het |
Srsf1 |
C |
T |
11: 87,940,084 (GRCm39) |
Q199* |
probably null |
Het |
Stard9 |
A |
T |
2: 120,526,623 (GRCm39) |
D960V |
probably benign |
Het |
Tcp10c |
A |
T |
17: 13,576,166 (GRCm39) |
I49F |
possibly damaging |
Het |
Tgm2 |
T |
C |
2: 157,971,315 (GRCm39) |
N308S |
possibly damaging |
Het |
Tiam2 |
A |
G |
17: 3,498,660 (GRCm39) |
D812G |
probably benign |
Het |
Tph1 |
A |
T |
7: 46,311,541 (GRCm39) |
V67D |
possibly damaging |
Het |
Trps1 |
C |
T |
15: 50,685,793 (GRCm39) |
R794H |
possibly damaging |
Het |
Ttn |
C |
T |
2: 76,683,505 (GRCm39) |
A906T |
|
Het |
Vmn1r124 |
G |
A |
7: 20,994,184 (GRCm39) |
P120L |
probably benign |
Het |
Vmn2r92 |
A |
T |
17: 18,387,005 (GRCm39) |
T115S |
probably benign |
Het |
Wdr11 |
A |
G |
7: 129,208,376 (GRCm39) |
D377G |
probably damaging |
Het |
Wdr55 |
G |
T |
18: 36,895,989 (GRCm39) |
A251S |
possibly damaging |
Het |
Zbtb7b |
C |
T |
3: 89,288,209 (GRCm39) |
R203H |
probably benign |
Het |
Zfp109 |
A |
T |
7: 23,929,231 (GRCm39) |
H67Q |
probably benign |
Het |
Zfp462 |
G |
A |
4: 55,051,271 (GRCm39) |
C2248Y |
probably damaging |
Het |
Zyg11b |
T |
C |
4: 108,102,119 (GRCm39) |
H534R |
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 |
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 |
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'- CAAGCTCAGCAACAGTGAAG -3'
(R):5'- GCTGCTGAAGATAGGCATGG -3'
Sequencing Primer
(F):5'- CTCAGCAACAGTGAAGTGAGC -3'
(R):5'- TCACAGGCACAGTCAGTTTC -3'
|
Posted On |
2019-05-15 |