Incidental Mutation 'R0456:Chsy3'
ID |
40058 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Chsy3
|
Ensembl Gene |
ENSMUSG00000058152 |
Gene Name |
chondroitin sulfate synthase 3 |
Synonyms |
4833446K15Rik |
MMRRC Submission |
038656-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0456 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
59308412-59544408 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 59309550 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 268
(I268F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000079546
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080721]
|
AlphaFold |
Q5DTK1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000080721
AA Change: I268F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000079546 Gene: ENSMUSG00000058152 AA Change: I268F
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: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.1%
|
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd29 |
G |
A |
18: 12,429,036 (GRCm39) |
P11L |
probably damaging |
Het |
Antxr1 |
A |
C |
6: 87,194,257 (GRCm39) |
V347G |
probably damaging |
Het |
Atp13a5 |
T |
C |
16: 29,051,492 (GRCm39) |
N1127D |
probably benign |
Het |
Bivm |
T |
A |
1: 44,165,969 (GRCm39) |
W140R |
probably damaging |
Het |
Camta1 |
C |
A |
4: 151,159,597 (GRCm39) |
R1614L |
probably damaging |
Het |
Ceacam5 |
T |
C |
7: 17,494,776 (GRCm39) |
V928A |
possibly damaging |
Het |
Chia1 |
T |
C |
3: 106,035,795 (GRCm39) |
Y152H |
probably damaging |
Het |
CK137956 |
A |
T |
4: 127,839,100 (GRCm39) |
N439K |
probably damaging |
Het |
Csf3r |
C |
A |
4: 125,929,654 (GRCm39) |
N392K |
probably damaging |
Het |
Cyp1b1 |
T |
C |
17: 80,017,704 (GRCm39) |
I484V |
probably benign |
Het |
Dsc1 |
T |
C |
18: 20,232,169 (GRCm39) |
K280E |
probably damaging |
Het |
Eefsec |
A |
G |
6: 88,274,870 (GRCm39) |
Y365H |
probably benign |
Het |
Epb41l4b |
C |
T |
4: 57,142,843 (GRCm39) |
|
probably null |
Het |
Erap1 |
G |
A |
13: 74,812,339 (GRCm39) |
V385I |
probably benign |
Het |
Fat1 |
A |
T |
8: 45,482,571 (GRCm39) |
I3077F |
probably damaging |
Het |
Fras1 |
T |
G |
5: 96,862,202 (GRCm39) |
|
probably null |
Het |
Fras1 |
G |
T |
5: 96,702,647 (GRCm39) |
G230C |
probably damaging |
Het |
Gsg1l |
A |
G |
7: 125,522,682 (GRCm39) |
M182T |
possibly damaging |
Het |
Gzmg |
A |
G |
14: 56,395,779 (GRCm39) |
V60A |
probably damaging |
Het |
H4c6 |
T |
C |
13: 23,735,561 (GRCm39) |
D86G |
probably damaging |
Het |
Hapln4 |
A |
T |
8: 70,537,645 (GRCm39) |
Y113F |
probably benign |
Het |
Ikzf4 |
T |
A |
10: 128,471,677 (GRCm39) |
T274S |
probably damaging |
Het |
Kansl1l |
T |
A |
1: 66,774,885 (GRCm39) |
H302L |
probably damaging |
Het |
Klhl41 |
T |
C |
2: 69,500,893 (GRCm39) |
V118A |
probably damaging |
Het |
Kpna1 |
T |
C |
16: 35,823,270 (GRCm39) |
S41P |
possibly damaging |
Het |
Krt23 |
A |
G |
11: 99,377,604 (GRCm39) |
V134A |
probably benign |
Het |
Lamb1 |
G |
A |
12: 31,354,729 (GRCm39) |
C992Y |
probably damaging |
Het |
Lrif1 |
C |
T |
3: 106,639,094 (GRCm39) |
P35S |
probably benign |
Het |
Lrrc4 |
A |
G |
6: 28,831,103 (GRCm39) |
S171P |
probably damaging |
Het |
Lvrn |
G |
A |
18: 46,997,883 (GRCm39) |
|
probably null |
Het |
Matr3 |
T |
A |
18: 35,705,917 (GRCm39) |
F281I |
probably damaging |
Het |
Meak7 |
A |
T |
8: 120,495,162 (GRCm39) |
F199I |
probably damaging |
Het |
Nxn |
G |
A |
11: 76,153,963 (GRCm39) |
Q291* |
probably null |
Het |
Or5b113 |
A |
G |
19: 13,342,102 (GRCm39) |
T37A |
probably damaging |
Het |
Pdp2 |
G |
T |
8: 105,320,421 (GRCm39) |
R90L |
probably damaging |
Het |
Ppp1r3c |
C |
A |
19: 36,711,291 (GRCm39) |
E160* |
probably null |
Het |
Ppp2r5c |
T |
G |
12: 110,489,013 (GRCm39) |
S118R |
probably damaging |
Het |
Ptpn23 |
G |
T |
9: 110,218,861 (GRCm39) |
|
probably null |
Het |
Ptpro |
G |
T |
6: 137,391,228 (GRCm39) |
V783L |
probably benign |
Het |
Rab40c |
A |
G |
17: 26,103,631 (GRCm39) |
V144A |
possibly damaging |
Het |
Rasal2 |
T |
C |
1: 156,977,413 (GRCm39) |
N1087S |
probably damaging |
Het |
Rfc3 |
T |
A |
5: 151,570,988 (GRCm39) |
S103C |
possibly damaging |
Het |
Rgl2 |
A |
G |
17: 34,155,823 (GRCm39) |
|
probably null |
Het |
Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
Rit2 |
A |
T |
18: 31,108,504 (GRCm39) |
F160L |
probably benign |
Het |
Rnh1 |
A |
G |
7: 140,742,461 (GRCm39) |
S366P |
possibly damaging |
Het |
Sdk2 |
T |
C |
11: 113,682,292 (GRCm39) |
Y2029C |
possibly damaging |
Het |
Smpd3 |
T |
A |
8: 106,986,288 (GRCm39) |
I505F |
probably benign |
Het |
Sorcs3 |
A |
T |
19: 48,642,483 (GRCm39) |
S379C |
possibly damaging |
Het |
Sult1e1 |
A |
G |
5: 87,726,493 (GRCm39) |
L207P |
possibly damaging |
Het |
Sycp2 |
C |
G |
2: 178,023,648 (GRCm39) |
S456T |
probably benign |
Het |
Syne1 |
T |
C |
10: 5,292,252 (GRCm39) |
T1339A |
probably benign |
Het |
Tas2r117 |
A |
G |
6: 132,780,354 (GRCm39) |
N164S |
probably benign |
Het |
Tigd3 |
A |
G |
19: 5,942,821 (GRCm39) |
L103P |
probably damaging |
Het |
Tmem132b |
T |
C |
5: 125,864,788 (GRCm39) |
S965P |
probably damaging |
Het |
Tmem82 |
T |
C |
4: 141,344,701 (GRCm39) |
T81A |
probably benign |
Het |
Tmem8b |
A |
G |
4: 43,685,618 (GRCm39) |
T156A |
probably benign |
Het |
Tnfrsf21 |
A |
G |
17: 43,348,982 (GRCm39) |
E198G |
probably benign |
Het |
Tnpo2 |
A |
G |
8: 85,781,045 (GRCm39) |
N767S |
probably damaging |
Het |
Trf |
T |
C |
9: 103,104,102 (GRCm39) |
Y87C |
probably damaging |
Het |
Tst |
A |
G |
15: 78,289,780 (GRCm39) |
V85A |
probably damaging |
Het |
Usp37 |
A |
T |
1: 74,507,507 (GRCm39) |
N503K |
probably damaging |
Het |
Utp20 |
C |
T |
10: 88,590,435 (GRCm39) |
M2346I |
possibly damaging |
Het |
Vax2 |
A |
G |
6: 83,688,388 (GRCm39) |
D37G |
probably benign |
Het |
Vmn1r77 |
T |
A |
7: 11,775,665 (GRCm39) |
L79* |
probably null |
Het |
Zbtb3 |
A |
T |
19: 8,780,564 (GRCm39) |
D59V |
probably damaging |
Het |
Zdhhc13 |
T |
C |
7: 48,458,602 (GRCm39) |
F182S |
probably benign |
Het |
Zfp426 |
A |
G |
9: 20,381,593 (GRCm39) |
F465L |
probably damaging |
Het |
Zfp526 |
A |
G |
7: 24,925,637 (GRCm39) |
E632G |
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 |
|
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 |
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'- TTTTCCAGTCAGCAATCTCCCAGTG -3'
(R):5'- TGCAATCCTTTAGCCAGGACACG -3'
Sequencing Primer
(F):5'- CTCCCCAGAAAAAGTCCTTCATG -3'
(R):5'- TTCGCCTTCAGAGTAGAGACC -3'
|
Posted On |
2013-05-23 |