Incidental Mutation 'R8332:Chsy3'
ID |
644454 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Chsy3
|
Ensembl Gene |
ENSMUSG00000058152 |
Gene Name |
chondroitin sulfate synthase 3 |
Synonyms |
4833446K15Rik |
MMRRC Submission |
067728-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8332 (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 59542087 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 408
(H408Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000079546
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080721]
|
AlphaFold |
Q5DTK1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000080721
AA Change: H408Q
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000079546 Gene: ENSMUSG00000058152 AA Change: H408Q
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: 99.1%
|
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca14 |
A |
G |
7: 119,815,436 (GRCm39) |
D228G |
probably benign |
Het |
Adgrv1 |
C |
T |
13: 81,593,462 (GRCm39) |
R4175H |
probably damaging |
Het |
Ahdc1 |
A |
G |
4: 132,791,282 (GRCm39) |
D841G |
possibly damaging |
Het |
Alms1 |
G |
A |
6: 85,597,561 (GRCm39) |
V796I |
probably benign |
Het |
Angptl8 |
A |
T |
9: 21,748,137 (GRCm39) |
|
probably null |
Het |
Arhgap23 |
A |
T |
11: 97,381,960 (GRCm39) |
S61T |
unknown |
Het |
Bcl9 |
C |
T |
3: 97,117,086 (GRCm39) |
G536D |
possibly damaging |
Het |
Bscl2 |
A |
G |
19: 8,823,594 (GRCm39) |
D220G |
probably benign |
Het |
Ccl28 |
C |
A |
13: 120,107,514 (GRCm39) |
C58* |
probably null |
Het |
Ccr8 |
A |
T |
9: 119,923,440 (GRCm39) |
Y185F |
probably damaging |
Het |
Cntrl |
A |
G |
2: 35,016,037 (GRCm39) |
E351G |
probably damaging |
Het |
Cog5 |
A |
T |
12: 31,883,222 (GRCm39) |
K384* |
probably null |
Het |
Cpne1 |
T |
C |
2: 155,920,317 (GRCm39) |
T187A |
probably benign |
Het |
Crat |
T |
A |
2: 30,295,084 (GRCm39) |
I444F |
possibly damaging |
Het |
Crb1 |
T |
A |
1: 139,165,152 (GRCm39) |
M1052L |
probably damaging |
Het |
Cstdc1 |
A |
G |
2: 148,625,377 (GRCm39) |
K104E |
probably damaging |
Het |
Erp44 |
A |
G |
4: 48,243,475 (GRCm39) |
|
probably null |
Het |
Flad1 |
G |
T |
3: 89,314,828 (GRCm39) |
Q290K |
probably benign |
Het |
Gata3os |
G |
A |
2: 9,887,650 (GRCm39) |
R17H |
unknown |
Het |
Gli3 |
G |
T |
13: 15,888,133 (GRCm39) |
R516L |
possibly damaging |
Het |
Gm19402 |
A |
T |
10: 77,526,048 (GRCm39) |
C182S |
unknown |
Het |
Herc2 |
T |
C |
7: 55,796,343 (GRCm39) |
I1905T |
probably damaging |
Het |
Ikbkb |
A |
T |
8: 23,155,641 (GRCm39) |
V617D |
possibly damaging |
Het |
Intu |
A |
G |
3: 40,629,719 (GRCm39) |
I350V |
probably benign |
Het |
Limd1 |
A |
G |
9: 123,308,319 (GRCm39) |
D6G |
probably damaging |
Het |
Llgl1 |
A |
G |
11: 60,601,210 (GRCm39) |
D716G |
possibly damaging |
Het |
Lrp1 |
G |
A |
10: 127,407,805 (GRCm39) |
T1828I |
probably damaging |
Het |
Or2at1 |
T |
C |
7: 99,417,334 (GRCm39) |
*322Q |
probably null |
Het |
Or6c38 |
A |
G |
10: 128,929,174 (GRCm39) |
I223T |
possibly damaging |
Het |
Piezo2 |
A |
T |
18: 63,145,857 (GRCm39) |
I2689N |
possibly damaging |
Het |
Prag1 |
T |
C |
8: 36,613,457 (GRCm39) |
I1003T |
probably damaging |
Het |
Rbm8a2 |
T |
C |
1: 175,805,967 (GRCm39) |
D170G |
unknown |
Het |
Rnf213 |
A |
C |
11: 119,374,524 (GRCm39) |
Q5027P |
|
Het |
Robo1 |
T |
C |
16: 72,775,466 (GRCm39) |
Y664H |
probably damaging |
Het |
Rrn3 |
T |
A |
16: 13,616,484 (GRCm39) |
D287E |
possibly damaging |
Het |
Slc22a16 |
G |
A |
10: 40,449,741 (GRCm39) |
R80Q |
possibly damaging |
Het |
Slc4a4 |
A |
T |
5: 89,327,680 (GRCm39) |
T706S |
probably benign |
Het |
Srek1ip1 |
A |
T |
13: 104,970,757 (GRCm39) |
R69S |
possibly damaging |
Het |
St3gal5 |
T |
A |
6: 72,119,165 (GRCm39) |
C119* |
probably null |
Het |
T2 |
A |
G |
17: 8,609,784 (GRCm39) |
M78V |
probably null |
Het |
Taok1 |
A |
T |
11: 77,432,545 (GRCm39) |
V756D |
possibly damaging |
Het |
Tecta |
C |
T |
9: 42,286,310 (GRCm39) |
G782D |
probably damaging |
Het |
Thbs2 |
G |
A |
17: 14,900,032 (GRCm39) |
P615L |
probably damaging |
Het |
Ttll11 |
T |
A |
2: 35,830,721 (GRCm39) |
I217F |
possibly damaging |
Het |
Vmn2r57 |
C |
T |
7: 41,049,677 (GRCm39) |
V691M |
probably benign |
Het |
Xkr4 |
T |
C |
1: 3,492,122 (GRCm39) |
Y267C |
probably damaging |
Het |
Zfp59 |
A |
G |
7: 27,552,971 (GRCm39) |
D141G |
probably benign |
Het |
Zfp760 |
A |
G |
17: 21,942,301 (GRCm39) |
E492G |
probably 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 |
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 |
|
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'- TAACGAAGTGCCACATTAGTTCG -3'
(R):5'- TCAGGAACTCCCACTCCATG -3'
Sequencing Primer
(F):5'- ATTAACTATTTTCATGCTCCTTCTCC -3'
(R):5'- GGAACTCCCACTCCATGACTTC -3'
|
Posted On |
2020-09-02 |