Incidental Mutation 'R8375:Chsy3'
ID |
646655 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Chsy3
|
Ensembl Gene |
ENSMUSG00000058152 |
Gene Name |
chondroitin sulfate synthase 3 |
Synonyms |
4833446K15Rik |
MMRRC Submission |
067743-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8375 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
59308412-59544408 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 59312585 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Serine
at position 353
(R353S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000079546
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080721]
|
AlphaFold |
Q5DTK1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000080721
AA Change: R353S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000079546 Gene: ENSMUSG00000058152 AA Change: R353S
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: 99.8%
- 20x: 99.3%
|
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
C |
A |
11: 9,265,416 (GRCm39) |
F3030L |
probably benign |
Het |
Abca13 |
A |
T |
11: 9,347,841 (GRCm39) |
I3565F |
probably damaging |
Het |
Ak7 |
A |
T |
12: 105,708,600 (GRCm39) |
I352F |
probably damaging |
Het |
Alkal2 |
G |
T |
12: 30,934,850 (GRCm39) |
G23V |
probably damaging |
Het |
Anapc7 |
C |
T |
5: 122,566,342 (GRCm39) |
P84S |
probably benign |
Het |
Apol7a |
A |
T |
15: 77,273,547 (GRCm39) |
I305N |
probably damaging |
Het |
Asf1b |
C |
T |
8: 84,694,559 (GRCm39) |
R108C |
probably damaging |
Het |
Bicd1 |
A |
T |
6: 149,421,989 (GRCm39) |
E903D |
probably benign |
Het |
Bpifb3 |
A |
T |
2: 153,767,715 (GRCm39) |
I263F |
probably benign |
Het |
Cavin3 |
T |
A |
7: 105,130,228 (GRCm39) |
S195C |
probably damaging |
Het |
Col5a2 |
A |
G |
1: 45,481,890 (GRCm39) |
V78A |
unknown |
Het |
Cpxm1 |
C |
T |
2: 130,236,146 (GRCm39) |
E339K |
probably damaging |
Het |
Cyp26c1 |
G |
T |
19: 37,675,660 (GRCm39) |
A175S |
probably benign |
Het |
Dnah5 |
A |
T |
15: 28,327,489 (GRCm39) |
T2069S |
probably benign |
Het |
Ednrb |
A |
G |
14: 104,057,383 (GRCm39) |
F393S |
probably damaging |
Het |
Fstl4 |
T |
C |
11: 53,053,502 (GRCm39) |
S385P |
possibly damaging |
Het |
Gabpb2 |
G |
A |
3: 95,112,109 (GRCm39) |
S40L |
probably damaging |
Het |
Gabrb1 |
T |
C |
5: 72,187,172 (GRCm39) |
I155T |
probably damaging |
Het |
Hc |
T |
A |
2: 34,873,731 (GRCm39) |
N1668Y |
probably benign |
Het |
Kcnh1 |
A |
G |
1: 192,117,124 (GRCm39) |
H670R |
probably damaging |
Het |
Krt31 |
G |
A |
11: 99,938,603 (GRCm39) |
A330V |
probably benign |
Het |
Lrfn2 |
T |
A |
17: 49,403,851 (GRCm39) |
M658K |
possibly damaging |
Het |
Lrrc1 |
T |
A |
9: 77,365,129 (GRCm39) |
N184I |
probably damaging |
Het |
Lrrc69 |
T |
C |
4: 14,795,994 (GRCm39) |
I18V |
probably benign |
Het |
Lvrn |
G |
A |
18: 46,983,289 (GRCm39) |
V11M |
probably damaging |
Het |
Map4k4 |
T |
C |
1: 40,063,801 (GRCm39) |
S1199P |
possibly damaging |
Het |
Mib1 |
T |
C |
18: 10,768,233 (GRCm39) |
|
probably null |
Het |
Mpv17l |
A |
T |
16: 13,758,863 (GRCm39) |
I96L |
probably benign |
Het |
Myo18b |
C |
T |
5: 112,908,259 (GRCm39) |
V2005I |
possibly damaging |
Het |
Myo6 |
T |
A |
9: 80,162,206 (GRCm39) |
H314Q |
unknown |
Het |
Nat8f6 |
A |
C |
6: 85,785,888 (GRCm39) |
M87R |
probably benign |
Het |
Net1 |
A |
G |
13: 3,943,458 (GRCm39) |
|
probably benign |
Het |
Notch4 |
C |
T |
17: 34,787,228 (GRCm39) |
T294I |
possibly damaging |
Het |
Nrros |
A |
G |
16: 31,966,456 (GRCm39) |
L36P |
probably damaging |
Het |
Or8b12i |
T |
C |
9: 20,082,037 (GRCm39) |
M277V |
probably benign |
Het |
Or8c9 |
G |
C |
9: 38,241,231 (GRCm39) |
W113S |
probably benign |
Het |
Padi3 |
T |
C |
4: 140,525,407 (GRCm39) |
H202R |
probably damaging |
Het |
Pik3ap1 |
A |
T |
19: 41,316,538 (GRCm39) |
M284K |
probably damaging |
Het |
Prr27 |
C |
A |
5: 87,990,710 (GRCm39) |
Y107* |
probably null |
Het |
Rab5c |
G |
T |
11: 100,607,609 (GRCm39) |
N188K |
probably damaging |
Het |
Rlf |
A |
T |
4: 121,005,532 (GRCm39) |
S1259R |
probably damaging |
Het |
Rrm2 |
T |
C |
12: 24,762,751 (GRCm39) |
V298A |
probably damaging |
Het |
Rtn4rl2 |
A |
T |
2: 84,711,033 (GRCm39) |
L77H |
possibly damaging |
Het |
Skint4 |
A |
G |
4: 111,975,173 (GRCm39) |
I44M |
probably damaging |
Het |
Spaca7 |
T |
C |
8: 12,648,998 (GRCm39) |
I164T |
probably benign |
Het |
Spg7 |
A |
G |
8: 123,800,568 (GRCm39) |
S153G |
probably damaging |
Het |
Spink5 |
T |
C |
18: 44,123,786 (GRCm39) |
S358P |
probably benign |
Het |
Stx5a |
T |
C |
19: 8,732,462 (GRCm39) |
M377T |
unknown |
Het |
Tchh |
CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC |
CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC |
3: 93,354,015 (GRCm39) |
|
probably benign |
Het |
Ttc41 |
A |
G |
10: 86,599,844 (GRCm39) |
D1048G |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,557,509 (GRCm39) |
W29862R |
probably damaging |
Het |
Vmn1r203 |
T |
G |
13: 22,709,154 (GRCm39) |
*312G |
probably null |
Het |
Vmn2r74 |
T |
G |
7: 85,601,914 (GRCm39) |
T575P |
possibly damaging |
Het |
Zfp14 |
A |
T |
7: 29,738,579 (GRCm39) |
N135K |
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 |
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 |
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'- CCTGGGCAATACTGAAGAACTTG -3'
(R):5'- TCCAGCGGCAGAGATGTAAC -3'
Sequencing Primer
(F):5'- CAATACTGAAGAACTTGGAAAGCTG -3'
(R):5'- TCTGATAAGAAAGATGCATCCCG -3'
|
Posted On |
2020-09-02 |