Incidental Mutation 'R8700:Chsy3'
ID |
669028 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Chsy3
|
Ensembl Gene |
ENSMUSG00000058152 |
Gene Name |
chondroitin sulfate synthase 3 |
Synonyms |
4833446K15Rik |
MMRRC Submission |
068554-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8700 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
59308412-59544408 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 59309487 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 247
(Y247H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000079546
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080721]
|
AlphaFold |
Q5DTK1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000080721
AA Change: Y247H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000079546 Gene: ENSMUSG00000058152 AA Change: Y247H
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 |
|
Meta Mutation Damage Score |
0.7711 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
Validation Efficiency |
98% (59/60) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933414I15Rik |
T |
A |
11: 50,833,344 (GRCm39) |
D86V |
unknown |
Het |
Abtb2 |
C |
A |
2: 103,397,289 (GRCm39) |
T73K |
probably damaging |
Het |
Akr1c14 |
T |
C |
13: 4,131,157 (GRCm39) |
|
probably benign |
Het |
Anapc7 |
T |
A |
5: 122,560,669 (GRCm39) |
M10K |
probably damaging |
Het |
Ano7 |
T |
G |
1: 93,316,329 (GRCm39) |
I204S |
probably damaging |
Het |
Arhgef39 |
T |
A |
4: 43,496,715 (GRCm39) |
Q333L |
probably benign |
Het |
Art5 |
T |
C |
7: 101,748,862 (GRCm39) |
|
probably benign |
Het |
Asah1 |
T |
C |
8: 41,813,312 (GRCm39) |
T34A |
probably benign |
Het |
Atp9b |
T |
C |
18: 80,796,361 (GRCm39) |
E894G |
|
Het |
Atxn7l3 |
A |
T |
11: 102,184,747 (GRCm39) |
M126K |
possibly damaging |
Het |
Cacna2d4 |
A |
G |
6: 119,258,654 (GRCm39) |
D580G |
probably damaging |
Het |
Calcoco2 |
T |
A |
11: 95,994,330 (GRCm39) |
K74N |
probably benign |
Het |
Ccdc163 |
T |
C |
4: 116,571,348 (GRCm39) |
|
probably null |
Het |
Cep164 |
T |
C |
9: 45,686,667 (GRCm39) |
|
probably null |
Het |
Chd7 |
T |
A |
4: 8,833,892 (GRCm39) |
N1215K |
probably damaging |
Het |
Clec16a |
A |
G |
16: 10,506,422 (GRCm39) |
Y714C |
probably damaging |
Het |
Col12a1 |
A |
G |
9: 79,527,371 (GRCm39) |
V2653A |
probably benign |
Het |
Daam2 |
T |
A |
17: 49,803,180 (GRCm39) |
K77N |
probably damaging |
Het |
Dhx35 |
T |
A |
2: 158,682,552 (GRCm39) |
M495K |
possibly damaging |
Het |
Disp2 |
T |
A |
2: 118,620,340 (GRCm39) |
C357* |
probably null |
Het |
Dnah6 |
T |
A |
6: 73,052,873 (GRCm39) |
|
probably benign |
Het |
Dnah7a |
T |
G |
1: 53,535,088 (GRCm39) |
D2724A |
possibly damaging |
Het |
Entpd5 |
A |
T |
12: 84,443,508 (GRCm39) |
D53E |
probably damaging |
Het |
Fto |
T |
A |
8: 92,249,461 (GRCm39) |
I431N |
probably damaging |
Het |
Gabrr2 |
T |
C |
4: 33,095,488 (GRCm39) |
I459T |
probably damaging |
Het |
Gm5565 |
T |
A |
5: 146,097,236 (GRCm39) |
I29F |
probably damaging |
Het |
Gm9195 |
C |
T |
14: 72,720,171 (GRCm39) |
G87R |
probably damaging |
Het |
Grin2a |
T |
C |
16: 9,397,412 (GRCm39) |
S892G |
probably benign |
Het |
Katnip |
A |
G |
7: 125,429,042 (GRCm39) |
|
probably benign |
Het |
Mki67 |
T |
C |
7: 135,307,436 (GRCm39) |
N106S |
|
Het |
Myo16 |
T |
C |
8: 10,463,172 (GRCm39) |
S580P |
unknown |
Het |
Neo1 |
A |
G |
9: 58,825,913 (GRCm39) |
S672P |
probably benign |
Het |
Nxph3 |
A |
T |
11: 95,401,706 (GRCm39) |
V236E |
probably damaging |
Het |
Or10j7 |
G |
T |
1: 173,011,429 (GRCm39) |
P191T |
probably benign |
Het |
Or7e171-ps1 |
A |
C |
9: 19,852,996 (GRCm39) |
L247V |
unknown |
Het |
Pcdhb14 |
T |
C |
18: 37,582,652 (GRCm39) |
V586A |
probably damaging |
Het |
Peg10 |
T |
TCCA |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
Pja2 |
C |
T |
17: 64,599,949 (GRCm39) |
D512N |
probably damaging |
Het |
Ppfibp2 |
A |
G |
7: 107,345,602 (GRCm39) |
T875A |
possibly damaging |
Het |
Ppp3cc |
C |
A |
14: 70,474,001 (GRCm39) |
C332F |
probably damaging |
Het |
Pramel16 |
T |
A |
4: 143,675,701 (GRCm39) |
H375L |
possibly damaging |
Het |
Psg18 |
A |
T |
7: 18,087,550 (GRCm39) |
V36D |
probably damaging |
Het |
Ptprh |
A |
G |
7: 4,567,190 (GRCm39) |
S561P |
probably damaging |
Het |
Rhbdf2 |
G |
A |
11: 116,498,230 (GRCm39) |
|
probably benign |
Het |
Ripk2 |
T |
A |
4: 16,158,422 (GRCm39) |
N61I |
possibly damaging |
Het |
Setdb2 |
T |
C |
14: 59,654,888 (GRCm39) |
Y318C |
probably damaging |
Het |
Shc1 |
A |
G |
3: 89,334,740 (GRCm39) |
D533G |
possibly damaging |
Het |
Sirpb1a |
T |
C |
3: 15,476,419 (GRCm39) |
E193G |
probably damaging |
Het |
Slc41a2 |
T |
C |
10: 83,152,097 (GRCm39) |
E126G |
probably damaging |
Het |
Spata31h1 |
A |
T |
10: 82,127,859 (GRCm39) |
I1717N |
possibly damaging |
Het |
Srms |
C |
A |
2: 180,848,521 (GRCm39) |
A413S |
probably damaging |
Het |
Tob2 |
G |
T |
15: 81,735,802 (GRCm39) |
R56S |
probably damaging |
Het |
Unc119 |
T |
C |
11: 78,238,137 (GRCm39) |
I105T |
probably benign |
Het |
Unc13c |
T |
C |
9: 73,479,679 (GRCm39) |
I1742V |
probably benign |
Het |
Vmn1r46 |
C |
T |
6: 89,953,325 (GRCm39) |
T58I |
probably benign |
Het |
Vmn2r81 |
G |
T |
10: 79,129,517 (GRCm39) |
V803F |
probably damaging |
Het |
Zfp365 |
T |
C |
10: 67,745,535 (GRCm39) |
K81R |
possibly damaging |
Het |
Zfp974 |
G |
T |
7: 27,609,472 (GRCm39) |
T751K |
possibly damaging |
Het |
Zfpl1 |
T |
C |
19: 6,132,464 (GRCm39) |
N149S |
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 |
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'- ACAGAAGTACCTGGGCAGTC -3'
(R):5'- TTCAGGCTAAGAATGATGGGC -3'
Sequencing Primer
(F):5'- CGTGGAGTTCTTTTCCAG -3'
(R):5'- TGGATAGCTGGCCAGGG -3'
|
Posted On |
2021-04-30 |