Incidental Mutation 'R7936:Chsy3'
| ID |
648778 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chsy3
|
| Ensembl Gene |
ENSMUSG00000058152 |
| Gene Name |
chondroitin sulfate synthase 3 |
| Synonyms |
4833446K15Rik |
| MMRRC Submission |
045982-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7936 (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 59542418 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 519
(I519V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000079546
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080721]
|
| AlphaFold |
Q5DTK1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000080721
AA Change: I519V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000079546
Gene: ENSMUSG00000058152
AA Change: I519V
| 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: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (64/64) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930590J08Rik |
T |
A |
6: 91,900,445 (GRCm39) |
L438* |
probably null |
Het |
| Adamts18 |
T |
A |
8: 114,493,760 (GRCm39) |
I460F |
probably damaging |
Het |
| Api5 |
C |
T |
2: 94,268,392 (GRCm39) |
|
probably benign |
Het |
| Arap2 |
A |
G |
5: 62,888,048 (GRCm39) |
S433P |
probably damaging |
Het |
| Arhgap26 |
T |
C |
18: 39,338,340 (GRCm39) |
Y371H |
probably damaging |
Het |
| Asf1b |
T |
C |
8: 84,695,848 (GRCm39) |
I163T |
probably benign |
Het |
| Cacna2d2 |
A |
G |
9: 107,401,326 (GRCm39) |
N696S |
probably damaging |
Het |
| Carns1 |
A |
C |
19: 4,216,152 (GRCm39) |
S677A |
probably benign |
Het |
| Cd276 |
G |
A |
9: 58,448,113 (GRCm39) |
|
probably benign |
Het |
| Cdk8 |
T |
A |
5: 146,236,644 (GRCm39) |
M353K |
possibly damaging |
Het |
| Cfap57 |
C |
T |
4: 118,472,128 (GRCm39) |
V84I |
probably benign |
Het |
| Chtop |
T |
C |
3: 90,414,658 (GRCm39) |
|
probably benign |
Het |
| Clstn3 |
T |
A |
6: 124,408,972 (GRCm39) |
D892V |
possibly damaging |
Het |
| Col16a1 |
A |
T |
4: 129,990,664 (GRCm39) |
|
probably null |
Het |
| Dnah5 |
A |
G |
15: 28,345,983 (GRCm39) |
E2441G |
possibly damaging |
Het |
| Dpy19l2 |
T |
G |
9: 24,469,454 (GRCm39) |
D734A |
probably damaging |
Het |
| Dusp2 |
T |
A |
2: 127,178,812 (GRCm39) |
Y172* |
probably null |
Het |
| Efcab3 |
A |
G |
11: 104,890,524 (GRCm39) |
N4202S |
possibly damaging |
Het |
| Efcab3 |
G |
A |
11: 104,937,385 (GRCm39) |
|
probably null |
Het |
| Eml4 |
G |
A |
17: 83,781,115 (GRCm39) |
R771Q |
possibly damaging |
Het |
| Fat2 |
T |
A |
11: 55,200,993 (GRCm39) |
M694L |
probably benign |
Het |
| Fat2 |
C |
A |
11: 55,201,986 (GRCm39) |
E363* |
probably null |
Het |
| Gdpgp1 |
A |
G |
7: 79,888,826 (GRCm39) |
I286V |
probably damaging |
Het |
| Gps1 |
T |
A |
11: 120,677,199 (GRCm39) |
V166E |
probably damaging |
Het |
| H60b |
T |
A |
10: 22,162,055 (GRCm39) |
N93K |
probably benign |
Het |
| Imp4 |
C |
T |
1: 34,482,114 (GRCm39) |
T79I |
probably benign |
Het |
| Kank3 |
A |
G |
17: 34,037,841 (GRCm39) |
S485G |
probably benign |
Het |
| Kcnv2 |
A |
G |
19: 27,300,167 (GRCm39) |
N6S |
probably benign |
Het |
| Krba1 |
A |
T |
6: 48,388,603 (GRCm39) |
Q534L |
probably damaging |
Het |
| Lgr4 |
A |
G |
2: 109,836,863 (GRCm39) |
N399S |
probably damaging |
Het |
| Lgr5 |
A |
G |
10: 115,288,952 (GRCm39) |
V564A |
probably damaging |
Het |
| Lrtm2 |
A |
G |
6: 119,297,394 (GRCm39) |
F216L |
probably benign |
Het |
| Lsm8 |
T |
A |
6: 18,849,658 (GRCm39) |
M22K |
probably benign |
Het |
| Mboat2 |
C |
T |
12: 25,005,392 (GRCm39) |
T389M |
probably damaging |
Het |
| Mcoln1 |
T |
G |
8: 3,555,924 (GRCm39) |
I73S |
probably damaging |
Het |
| Myh7 |
T |
A |
14: 55,216,920 (GRCm39) |
I1146F |
possibly damaging |
Het |
| Naa16 |
G |
A |
14: 79,578,486 (GRCm39) |
T666I |
possibly damaging |
Het |
| Ncoa1 |
A |
G |
12: 4,385,873 (GRCm39) |
S88P |
possibly damaging |
Het |
| Obscn |
T |
C |
11: 58,941,334 (GRCm39) |
T4496A |
possibly damaging |
Het |
| Or13a28 |
T |
C |
7: 140,217,652 (GRCm39) |
F13L |
probably damaging |
Het |
| Or7a35 |
T |
A |
10: 78,853,872 (GRCm39) |
F239I |
probably damaging |
Het |
| Pdxk |
G |
T |
10: 78,277,012 (GRCm39) |
A262D |
possibly damaging |
Het |
| Pebp4 |
T |
A |
14: 70,089,082 (GRCm39) |
L68Q |
probably damaging |
Het |
| Pfdn5 |
C |
T |
15: 102,236,978 (GRCm39) |
H77Y |
possibly damaging |
Het |
| Pld1 |
T |
C |
3: 28,130,651 (GRCm39) |
Y484H |
probably damaging |
Het |
| Pou3f3 |
C |
A |
1: 42,736,560 (GRCm39) |
N85K |
unknown |
Het |
| Ppm1m |
C |
A |
9: 106,075,144 (GRCm39) |
A134S |
probably damaging |
Het |
| Prdm11 |
A |
T |
2: 92,806,106 (GRCm39) |
S281R |
possibly damaging |
Het |
| Prdm2 |
C |
A |
4: 142,862,434 (GRCm39) |
L285F |
probably damaging |
Het |
| Ptchd3 |
C |
T |
11: 121,721,939 (GRCm39) |
R271* |
probably null |
Het |
| Ptprq |
A |
C |
10: 107,488,572 (GRCm39) |
V955G |
probably damaging |
Het |
| Pygb |
A |
T |
2: 150,657,589 (GRCm39) |
M351L |
probably benign |
Het |
| Rcl1 |
G |
A |
19: 29,095,805 (GRCm39) |
|
probably null |
Het |
| Sgip1 |
A |
T |
4: 102,786,097 (GRCm39) |
T351S |
possibly damaging |
Het |
| Slc22a5 |
T |
C |
11: 53,760,215 (GRCm39) |
N367S |
probably damaging |
Het |
| Sox6 |
A |
G |
7: 115,143,830 (GRCm39) |
V437A |
probably benign |
Het |
| Spata16 |
T |
A |
3: 26,721,572 (GRCm39) |
M31K |
possibly damaging |
Het |
| Stab1 |
C |
A |
14: 30,879,372 (GRCm39) |
V703F |
possibly damaging |
Het |
| Tbc1d4 |
C |
T |
14: 101,703,190 (GRCm39) |
G752R |
probably damaging |
Het |
| Tent4b |
G |
A |
8: 88,978,913 (GRCm39) |
G505R |
probably null |
Het |
| Tes3-ps |
C |
T |
13: 49,647,460 (GRCm39) |
A112V |
probably benign |
Het |
| Tnfrsf19 |
T |
C |
14: 61,208,382 (GRCm39) |
T380A |
probably benign |
Het |
| Trim75 |
C |
T |
8: 65,435,190 (GRCm39) |
G420E |
probably damaging |
Het |
| Txlnb |
A |
G |
10: 17,703,712 (GRCm39) |
D290G |
probably benign |
Het |
| Unc5c |
T |
A |
3: 141,534,238 (GRCm39) |
F920I |
possibly damaging |
Het |
| Vmn1r233 |
T |
A |
17: 21,214,237 (GRCm39) |
R238* |
probably null |
Het |
| Vmn2r113 |
A |
G |
17: 23,176,917 (GRCm39) |
E567G |
probably benign |
Het |
| Vmn2r97 |
T |
A |
17: 19,150,662 (GRCm39) |
I503K |
probably damaging |
Het |
| Wdr62 |
A |
G |
7: 29,964,584 (GRCm39) |
W387R |
probably damaging |
Het |
| Zfp36l2 |
A |
T |
17: 84,495,090 (GRCm39) |
D11E |
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 |
|
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'- AGCTCAGCAACAGTGAAGTG -3'
(R):5'- CCTCTCTGAAGAAAGGCTTGC -3'
Sequencing Primer
(F):5'- AACCACTTCCAGCCTCGGG -3'
(R):5'- AAGGCTTGCTAAATGGCTGC -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation