Incidental Mutation 'R4982:Chsy3'
ID |
384957 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Chsy3
|
Ensembl Gene |
ENSMUSG00000058152 |
Gene Name |
chondroitin sulfate synthase 3 |
Synonyms |
4833446K15Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4982 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
59308412-59544408 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 59542647 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Leucine
at position 595
(S595L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000079546
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080721]
|
AlphaFold |
Q5DTK1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000080721
AA Change: S595L
PolyPhen 2
Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000079546 Gene: ENSMUSG00000058152 AA Change: S595L
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: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.1%
|
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
T |
11: 9,242,348 (GRCm39) |
I1404L |
possibly damaging |
Het |
Adra1b |
A |
G |
11: 43,726,057 (GRCm39) |
S287P |
probably damaging |
Het |
Atxn2 |
G |
T |
5: 121,952,406 (GRCm39) |
A1280S |
possibly damaging |
Het |
Bbip1 |
T |
C |
19: 53,920,639 (GRCm39) |
|
probably null |
Het |
Bbs2 |
A |
G |
8: 94,808,982 (GRCm39) |
|
probably null |
Het |
Bcl11b |
A |
T |
12: 107,932,031 (GRCm39) |
C180* |
probably null |
Het |
Bltp3a |
T |
C |
17: 28,105,580 (GRCm39) |
F702S |
probably benign |
Het |
Bod1l |
A |
G |
5: 41,977,816 (GRCm39) |
V1166A |
probably benign |
Het |
Bora |
C |
T |
14: 99,284,788 (GRCm39) |
P13S |
probably damaging |
Het |
C2cd4c |
T |
C |
10: 79,449,075 (GRCm39) |
E24G |
probably benign |
Het |
Ccne1 |
A |
T |
7: 37,799,996 (GRCm39) |
I196N |
probably damaging |
Het |
Cntrob |
T |
A |
11: 69,202,188 (GRCm39) |
|
probably null |
Het |
Col5a2 |
G |
A |
1: 45,428,618 (GRCm39) |
P983S |
possibly damaging |
Het |
Crat |
T |
A |
2: 30,297,148 (GRCm39) |
|
probably null |
Het |
Ctnnbl1 |
C |
T |
2: 157,678,473 (GRCm39) |
H359Y |
probably benign |
Het |
D430041D05Rik |
A |
G |
2: 104,085,732 (GRCm39) |
V83A |
possibly damaging |
Het |
Dixdc1 |
A |
G |
9: 50,593,902 (GRCm39) |
S488P |
possibly damaging |
Het |
Dmrta1 |
T |
C |
4: 89,576,801 (GRCm39) |
C86R |
probably damaging |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
Fam171a1 |
G |
A |
2: 3,179,505 (GRCm39) |
|
probably null |
Het |
Fam222b |
T |
C |
11: 78,045,569 (GRCm39) |
C249R |
probably damaging |
Het |
Fbxw18 |
T |
A |
9: 109,531,719 (GRCm39) |
|
probably benign |
Het |
Fes |
T |
C |
7: 80,036,952 (GRCm39) |
Y44C |
probably damaging |
Het |
Gimap6 |
A |
G |
6: 48,684,933 (GRCm39) |
V51A |
probably benign |
Het |
Gpr75 |
C |
T |
11: 30,841,463 (GRCm39) |
L123F |
possibly damaging |
Het |
Gpr75 |
C |
A |
11: 30,841,462 (GRCm39) |
H122Q |
probably damaging |
Het |
Greb1 |
A |
G |
12: 16,774,762 (GRCm39) |
S212P |
probably damaging |
Het |
Grin3a |
T |
C |
4: 49,665,512 (GRCm39) |
H1041R |
probably benign |
Het |
Ifna5 |
A |
G |
4: 88,753,861 (GRCm39) |
N34D |
probably damaging |
Het |
Ift140 |
A |
T |
17: 25,255,968 (GRCm39) |
H221L |
probably damaging |
Het |
Igsf3 |
T |
C |
3: 101,342,983 (GRCm39) |
V540A |
probably benign |
Het |
Il10ra |
A |
G |
9: 45,180,357 (GRCm39) |
L5S |
probably damaging |
Het |
Klra2 |
A |
T |
6: 131,197,152 (GRCm39) |
D282E |
probably benign |
Het |
Lyst |
T |
A |
13: 13,900,539 (GRCm39) |
H3138Q |
probably damaging |
Het |
Malrd1 |
A |
G |
2: 16,046,940 (GRCm39) |
T1689A |
probably benign |
Het |
Mon2 |
A |
T |
10: 122,831,694 (GRCm39) |
L1671M |
probably damaging |
Het |
Mpped1 |
T |
C |
15: 83,720,528 (GRCm39) |
F71S |
probably damaging |
Het |
Mtpap |
C |
A |
18: 4,396,332 (GRCm39) |
H541Q |
probably benign |
Het |
Muc5ac |
T |
A |
7: 141,363,193 (GRCm39) |
|
probably benign |
Het |
Mybbp1a |
T |
C |
11: 72,336,040 (GRCm39) |
I451T |
probably damaging |
Het |
Myh7 |
T |
A |
14: 55,210,224 (GRCm39) |
E1827V |
probably damaging |
Het |
Or1j14 |
A |
T |
2: 36,417,409 (GRCm39) |
|
probably null |
Het |
Or2h15 |
A |
T |
17: 38,441,468 (GRCm39) |
I205N |
probably damaging |
Het |
Or5p75-ps1 |
T |
A |
7: 108,107,855 (GRCm39) |
Y197* |
probably null |
Het |
Or8b8 |
C |
A |
9: 37,808,811 (GRCm39) |
T37N |
probably damaging |
Het |
Os9 |
C |
T |
10: 126,956,920 (GRCm39) |
R23H |
possibly damaging |
Het |
Otud6b |
A |
G |
4: 14,815,607 (GRCm39) |
L261P |
probably damaging |
Het |
Pcdhga2 |
A |
G |
18: 37,802,476 (GRCm39) |
N107D |
probably benign |
Het |
Pclo |
C |
T |
5: 14,729,308 (GRCm39) |
|
probably benign |
Het |
Peg10 |
T |
TCCG |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
Phtf1 |
T |
A |
3: 103,906,024 (GRCm39) |
S524T |
probably damaging |
Het |
Pkdrej |
A |
C |
15: 85,703,197 (GRCm39) |
L913R |
probably damaging |
Het |
Pld1 |
C |
A |
3: 28,085,447 (GRCm39) |
A201D |
probably damaging |
Het |
Rorb |
T |
A |
19: 18,955,052 (GRCm39) |
Q103L |
probably benign |
Het |
Sec24d |
C |
T |
3: 123,093,255 (GRCm39) |
T284M |
probably benign |
Het |
Serpinb3b |
T |
C |
1: 107,085,484 (GRCm39) |
I86V |
probably benign |
Het |
Serpinb6a |
A |
T |
13: 34,102,857 (GRCm39) |
M201K |
probably damaging |
Het |
Snx8 |
A |
G |
5: 140,337,989 (GRCm39) |
S219P |
probably benign |
Het |
Sp8 |
C |
T |
12: 118,812,160 (GRCm39) |
T5I |
probably damaging |
Het |
Tanc1 |
A |
G |
2: 59,630,287 (GRCm39) |
N749D |
probably damaging |
Het |
Tarm1 |
G |
C |
7: 3,537,612 (GRCm39) |
P284A |
probably damaging |
Het |
Tbx15 |
A |
T |
3: 99,161,390 (GRCm39) |
E65V |
probably benign |
Het |
Ticam1 |
T |
A |
17: 56,579,020 (GRCm39) |
H25L |
probably benign |
Het |
Tmprss11g |
T |
A |
5: 86,640,674 (GRCm39) |
L170F |
probably damaging |
Het |
Tnfsf9 |
A |
G |
17: 57,414,504 (GRCm39) |
*310W |
probably null |
Het |
Tsks |
C |
T |
7: 44,593,418 (GRCm39) |
T128I |
possibly damaging |
Het |
Vmn1r175 |
A |
T |
7: 23,508,494 (GRCm39) |
N44K |
possibly damaging |
Het |
Vmn1r45 |
A |
G |
6: 89,910,847 (GRCm39) |
I41T |
probably damaging |
Het |
Ythdc2 |
A |
G |
18: 45,004,532 (GRCm39) |
N1102S |
probably benign |
Het |
Zswim4 |
C |
T |
8: 84,953,296 (GRCm39) |
|
probably null |
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 |
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'- AGTACATATTGGACCTGCTACTC -3'
(R):5'- TTGATGGACTCTTGGCCAGC -3'
Sequencing Primer
(F):5'- TTGGACCTGCTACTCCTGTACAAAAG -3'
(R):5'- CATCCCTGCTGAAAAGGATGATGAC -3'
|
Posted On |
2016-05-10 |