Incidental Mutation 'R5259:Chsy3'
ID |
401336 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Chsy3
|
Ensembl Gene |
ENSMUSG00000058152 |
Gene Name |
chondroitin sulfate synthase 3 |
Synonyms |
4833446K15Rik |
MMRRC Submission |
042856-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5259 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
59308412-59544408 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 59543318 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 819
(S819T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000079546
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080721]
|
AlphaFold |
Q5DTK1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000080721
AA Change: S819T
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000079546 Gene: ENSMUSG00000058152 AA Change: S819T
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 |
0.3376 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.7%
|
Validation Efficiency |
100% (68/68) |
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd18 |
A |
C |
3: 40,871,325 (GRCm39) |
T50P |
probably damaging |
Het |
Adam5 |
T |
A |
8: 25,300,850 (GRCm39) |
L226F |
possibly damaging |
Het |
Adi1 |
T |
C |
12: 28,725,544 (GRCm39) |
|
probably benign |
Het |
Apc |
T |
C |
18: 34,447,343 (GRCm39) |
V1379A |
probably benign |
Het |
Atp13a4 |
G |
A |
16: 29,275,428 (GRCm39) |
T352M |
probably damaging |
Het |
Baat |
T |
A |
4: 49,490,070 (GRCm39) |
N338I |
probably benign |
Het |
Bdnf |
A |
G |
2: 109,554,327 (GRCm39) |
T234A |
probably benign |
Het |
Catsperd |
A |
C |
17: 56,967,235 (GRCm39) |
T539P |
possibly damaging |
Het |
Cd109 |
A |
T |
9: 78,617,434 (GRCm39) |
T1311S |
probably benign |
Het |
Ceacam18 |
T |
C |
7: 43,286,536 (GRCm39) |
|
probably null |
Het |
Cfap96 |
T |
C |
8: 46,415,373 (GRCm39) |
E211G |
probably benign |
Het |
Cfhr4 |
C |
T |
1: 139,668,233 (GRCm39) |
C300Y |
probably damaging |
Het |
Col4a4 |
G |
T |
1: 82,431,614 (GRCm39) |
R1557S |
unknown |
Het |
Ddx18 |
A |
G |
1: 121,495,518 (GRCm39) |
|
probably null |
Het |
Depdc5 |
C |
T |
5: 33,095,635 (GRCm39) |
P824L |
probably damaging |
Het |
Fam13c |
C |
G |
10: 70,276,893 (GRCm39) |
A17G |
probably benign |
Het |
Fermt1 |
T |
C |
2: 132,748,685 (GRCm39) |
Y646C |
probably damaging |
Het |
Fra10ac1 |
A |
G |
19: 38,188,110 (GRCm39) |
S229P |
probably benign |
Het |
Gbp8 |
A |
T |
5: 105,198,845 (GRCm39) |
H23Q |
probably benign |
Het |
Gdf2 |
T |
C |
14: 33,666,788 (GRCm39) |
V170A |
probably benign |
Het |
Gm15723 |
T |
C |
10: 114,652,722 (GRCm39) |
|
noncoding transcript |
Het |
Gm815 |
G |
A |
19: 26,863,806 (GRCm39) |
V16I |
unknown |
Het |
Ighv1-75 |
T |
A |
12: 115,797,797 (GRCm39) |
K42* |
probably null |
Het |
Isx |
A |
G |
8: 75,619,473 (GRCm39) |
T222A |
probably benign |
Het |
Itgax |
G |
A |
7: 127,747,450 (GRCm39) |
D1018N |
probably damaging |
Het |
Kcnc4 |
A |
G |
3: 107,355,401 (GRCm39) |
F349S |
probably damaging |
Het |
Lama3 |
A |
C |
18: 12,598,565 (GRCm39) |
S991R |
probably damaging |
Het |
Larp4b |
C |
T |
13: 9,208,220 (GRCm39) |
A398V |
probably damaging |
Het |
Ltbp1 |
A |
G |
17: 75,670,357 (GRCm39) |
N1466S |
probably benign |
Het |
Metrn |
A |
T |
17: 26,015,514 (GRCm39) |
L67Q |
probably damaging |
Het |
Morc1 |
G |
A |
16: 48,451,132 (GRCm39) |
R937Q |
probably benign |
Het |
Mta3 |
A |
G |
17: 84,112,003 (GRCm39) |
Y577C |
probably damaging |
Het |
Nalcn |
A |
G |
14: 123,753,063 (GRCm39) |
F308L |
possibly damaging |
Het |
Nat8 |
A |
T |
6: 85,807,873 (GRCm39) |
S87T |
probably benign |
Het |
Oplah |
A |
T |
15: 76,185,410 (GRCm39) |
|
probably null |
Het |
Or2ak6 |
A |
G |
11: 58,592,778 (GRCm39) |
N84D |
probably benign |
Het |
Or2ak6 |
A |
C |
11: 58,592,779 (GRCm39) |
N84T |
possibly damaging |
Het |
Or7e166 |
A |
G |
9: 19,624,109 (GRCm39) |
|
probably null |
Het |
Pcdh15 |
A |
T |
10: 74,232,204 (GRCm39) |
I668L |
possibly damaging |
Het |
Pecr |
A |
G |
1: 72,316,444 (GRCm39) |
|
probably null |
Het |
Plxna4 |
T |
C |
6: 32,493,956 (GRCm39) |
E220G |
possibly damaging |
Het |
Pnma8b |
A |
G |
7: 16,679,199 (GRCm39) |
K61R |
unknown |
Het |
Prl8a6 |
C |
T |
13: 27,620,179 (GRCm39) |
W81* |
probably null |
Het |
Rab33b |
C |
T |
3: 51,392,033 (GRCm39) |
|
probably benign |
Het |
Rbm33 |
T |
A |
5: 28,557,772 (GRCm39) |
|
probably null |
Het |
Relch |
A |
G |
1: 105,649,101 (GRCm39) |
S747G |
probably benign |
Het |
Reln |
C |
T |
5: 22,308,395 (GRCm39) |
V325M |
possibly damaging |
Het |
Rheb |
A |
C |
5: 25,008,743 (GRCm39) |
D158E |
probably benign |
Het |
Rhebl1 |
T |
A |
15: 98,778,464 (GRCm39) |
|
probably benign |
Het |
Rmdn2 |
T |
A |
17: 79,975,446 (GRCm39) |
Y312N |
probably damaging |
Het |
Scamp1 |
T |
G |
13: 94,368,594 (GRCm39) |
N58T |
probably benign |
Het |
Semp2l1 |
A |
T |
1: 32,584,598 (GRCm39) |
C437* |
probably null |
Het |
Slc35a1 |
C |
T |
4: 34,683,322 (GRCm39) |
V53M |
probably benign |
Het |
Slc35f3 |
A |
T |
8: 127,115,872 (GRCm39) |
L266F |
probably damaging |
Het |
Slc45a2 |
C |
T |
15: 11,027,871 (GRCm39) |
T480I |
probably damaging |
Het |
Ticrr |
T |
A |
7: 79,344,471 (GRCm39) |
S1445R |
probably benign |
Het |
Ttc23l |
T |
C |
15: 10,515,236 (GRCm39) |
N381D |
probably damaging |
Het |
Usp17ld |
T |
A |
7: 102,899,781 (GRCm39) |
K384* |
probably null |
Het |
Vmn1r20 |
T |
A |
6: 57,409,050 (GRCm39) |
Y125* |
probably null |
Het |
Zfp738 |
G |
T |
13: 67,817,805 (GRCm39) |
Q729K |
probably benign |
Het |
Zfp770 |
T |
A |
2: 114,027,674 (GRCm39) |
M132L |
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 |
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 |
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'- TCTTTAGCCAGTATGACCCAAAG -3'
(R):5'- AGTTCGATTATCCCTGACACC -3'
Sequencing Primer
(F):5'- GGTCACCCATATGAGAAATCCTC -3'
(R):5'- GTTCGATTATCCCTGACACCCAAATG -3'
|
Posted On |
2016-07-06 |