Incidental Mutation 'R6182:Chsy3'
ID |
487066 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Chsy3
|
Ensembl Gene |
ENSMUSG00000058152 |
Gene Name |
chondroitin sulfate synthase 3 |
Synonyms |
4833446K15Rik |
MMRRC Submission |
044324-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6182 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
59308412-59544408 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 59312414 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 296
(T296A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000079546
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080721]
|
AlphaFold |
Q5DTK1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000080721
AA Change: T296A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000079546 Gene: ENSMUSG00000058152 AA Change: T296A
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: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.4%
|
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts7 |
T |
C |
9: 90,074,489 (GRCm39) |
S884P |
probably benign |
Het |
Akap13 |
C |
A |
7: 75,236,028 (GRCm39) |
A201E |
probably benign |
Het |
Ces1f |
T |
G |
8: 93,983,124 (GRCm39) |
E540A |
probably benign |
Het |
Chid1 |
T |
A |
7: 141,108,415 (GRCm39) |
M137L |
probably benign |
Het |
Clec4f |
A |
G |
6: 83,622,284 (GRCm39) |
V519A |
probably benign |
Het |
Clk4 |
T |
A |
11: 51,159,009 (GRCm39) |
F41I |
possibly damaging |
Het |
Cntnap5c |
A |
G |
17: 58,183,390 (GRCm39) |
D32G |
probably benign |
Het |
Ctsl |
T |
C |
13: 64,515,786 (GRCm39) |
Y95C |
probably damaging |
Het |
Cyp2c54 |
T |
C |
19: 40,036,005 (GRCm39) |
M302V |
probably benign |
Het |
Cyp2c65 |
C |
G |
19: 39,049,606 (GRCm39) |
L45V |
probably benign |
Het |
Cyp2j6 |
G |
C |
4: 96,424,323 (GRCm39) |
L145V |
probably damaging |
Het |
Daam1 |
C |
T |
12: 72,006,661 (GRCm39) |
Q693* |
probably null |
Het |
Dgcr8 |
A |
T |
16: 18,098,172 (GRCm39) |
D406E |
probably benign |
Het |
Dock2 |
G |
T |
11: 34,179,476 (GRCm39) |
P1760Q |
probably damaging |
Het |
Epb41l2 |
G |
A |
10: 25,383,715 (GRCm39) |
R940H |
probably damaging |
Het |
Erc2 |
A |
C |
14: 28,039,210 (GRCm39) |
D951A |
probably damaging |
Het |
Fbxw7 |
T |
C |
3: 84,723,078 (GRCm39) |
|
probably null |
Het |
Frem2 |
T |
A |
3: 53,555,390 (GRCm39) |
I1716F |
probably damaging |
Het |
Fus |
A |
G |
7: 127,576,465 (GRCm39) |
D295G |
probably damaging |
Het |
Gm5093 |
A |
G |
17: 46,750,568 (GRCm39) |
I153T |
probably benign |
Het |
Gnptab |
T |
C |
10: 88,265,342 (GRCm39) |
V318A |
possibly damaging |
Het |
Gpc2 |
T |
C |
5: 138,276,676 (GRCm39) |
D150G |
probably benign |
Het |
Gsc2 |
A |
G |
16: 17,731,483 (GRCm39) |
*215R |
probably null |
Het |
Hectd3 |
T |
C |
4: 116,857,476 (GRCm39) |
S552P |
probably damaging |
Het |
Katnal1 |
C |
A |
5: 148,841,407 (GRCm39) |
K152N |
possibly damaging |
Het |
Kcnh1 |
A |
T |
1: 191,873,361 (GRCm39) |
T16S |
probably damaging |
Het |
Lrrc71 |
T |
C |
3: 87,653,101 (GRCm39) |
D105G |
probably benign |
Het |
Mon2 |
T |
C |
10: 122,874,564 (GRCm39) |
|
probably null |
Het |
Mroh9 |
G |
A |
1: 162,893,612 (GRCm39) |
Q188* |
probably null |
Het |
Mtmr14 |
A |
G |
6: 113,246,469 (GRCm39) |
S81G |
possibly damaging |
Het |
Nrap |
T |
A |
19: 56,350,130 (GRCm39) |
M628L |
probably benign |
Het |
Odad3 |
A |
G |
9: 21,901,698 (GRCm39) |
F553S |
probably damaging |
Het |
Or1o1 |
T |
A |
17: 37,716,883 (GRCm39) |
I148K |
possibly damaging |
Het |
Or5k1 |
A |
G |
16: 58,617,655 (GRCm39) |
Y185H |
probably damaging |
Het |
Pals2 |
A |
G |
6: 50,175,206 (GRCm39) |
I506V |
probably benign |
Het |
Pate4 |
A |
T |
9: 35,519,586 (GRCm39) |
S35T |
possibly damaging |
Het |
Pkd1l1 |
T |
C |
11: 8,815,555 (GRCm39) |
E1452G |
probably benign |
Het |
Pld5 |
T |
C |
1: 175,872,420 (GRCm39) |
D239G |
probably benign |
Het |
Ppef2 |
C |
T |
5: 92,374,925 (GRCm39) |
V728M |
probably damaging |
Het |
Rasip1 |
TGCCGCCGCCGCCGCCGCCGCCGC |
TGCCGCCGCCGCCGCCGCCGC |
7: 45,277,879 (GRCm39) |
|
probably benign |
Het |
Rsf1 |
G |
A |
7: 97,229,117 (GRCm39) |
|
probably benign |
Het |
Serpina3c |
C |
A |
12: 104,115,690 (GRCm39) |
V285L |
probably benign |
Het |
Serpinb9f |
T |
C |
13: 33,518,405 (GRCm39) |
S302P |
probably damaging |
Het |
Sis |
C |
T |
3: 72,811,626 (GRCm39) |
V1642I |
probably benign |
Het |
Slc12a4 |
G |
A |
8: 106,674,531 (GRCm39) |
L601F |
probably damaging |
Het |
Slc39a6 |
G |
T |
18: 24,734,013 (GRCm39) |
N225K |
probably benign |
Het |
Snrnp70 |
G |
A |
7: 45,026,497 (GRCm39) |
R291* |
probably null |
Het |
Spin1 |
C |
T |
13: 51,298,374 (GRCm39) |
T131I |
probably benign |
Het |
St18 |
T |
G |
1: 6,914,342 (GRCm39) |
|
probably null |
Het |
Stox1 |
A |
G |
10: 62,500,721 (GRCm39) |
L613P |
probably damaging |
Het |
Tgm3 |
T |
G |
2: 129,867,221 (GRCm39) |
Y155* |
probably null |
Het |
Tmem67 |
T |
C |
4: 12,051,402 (GRCm39) |
I809V |
probably benign |
Het |
Tnc |
T |
A |
4: 63,927,033 (GRCm39) |
D831V |
probably damaging |
Het |
Ttll13 |
A |
T |
7: 79,909,981 (GRCm39) |
E762D |
probably benign |
Het |
Unc5b |
A |
T |
10: 60,601,015 (GRCm39) |
V937E |
probably damaging |
Het |
Vmn1r34 |
A |
G |
6: 66,614,312 (GRCm39) |
I142T |
probably damaging |
Het |
Vmn2r104 |
A |
G |
17: 20,250,507 (GRCm39) |
M588T |
probably benign |
Het |
Vmn2r77 |
T |
C |
7: 86,460,957 (GRCm39) |
V761A |
probably damaging |
Het |
Wdr48 |
G |
T |
9: 119,753,832 (GRCm39) |
G665W |
probably damaging |
Het |
Xpot |
T |
A |
10: 121,442,163 (GRCm39) |
R550S |
probably damaging |
Het |
Ydjc |
A |
G |
16: 16,964,943 (GRCm39) |
T33A |
probably benign |
Het |
Zfc3h1 |
A |
G |
10: 115,226,764 (GRCm39) |
T274A |
probably benign |
Het |
Zfp202 |
G |
A |
9: 40,118,638 (GRCm39) |
G17E |
probably damaging |
Het |
Zfp788 |
T |
A |
7: 41,299,940 (GRCm39) |
C859S |
probably damaging |
Het |
Zscan4c |
T |
C |
7: 10,740,709 (GRCm39) |
M76T |
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 |
|
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 |
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'- GTTAAGAGAAATGGCGGAAATTCTC -3'
(R):5'- TCTCGTCACACCTTCAAGGC -3'
Sequencing Primer
(F):5'- GAGAAATGGCGGAAATTCTCTCACTC -3'
(R):5'- GTCACACCTTCAAGGCTTACC -3'
|
Posted On |
2017-10-10 |