Incidental Mutation 'R5257:Chsy3'
| ID |
399838 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chsy3
|
| Ensembl Gene |
ENSMUSG00000058152 |
| Gene Name |
chondroitin sulfate synthase 3 |
| Synonyms |
4833446K15Rik |
| MMRRC Submission |
042855-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5257 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
59308412-59544408 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 59542866 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 668
(E668G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000079546
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080721]
|
| AlphaFold |
Q5DTK1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000080721
AA Change: E668G
PolyPhen 2
Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000079546
Gene: ENSMUSG00000058152
AA Change: E668G
| 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 |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.5%
|
| Validation Efficiency |
97% (63/65) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
T |
11: 9,199,684 (GRCm39) |
T128S |
possibly damaging |
Het |
| Abca16 |
T |
G |
7: 120,035,992 (GRCm39) |
|
probably null |
Het |
| Acp3 |
T |
C |
9: 104,186,674 (GRCm39) |
I266V |
probably benign |
Het |
| Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
| Asf1b |
C |
T |
8: 84,695,896 (GRCm39) |
T179I |
probably benign |
Het |
| Astn1 |
A |
G |
1: 158,440,102 (GRCm39) |
K890R |
probably damaging |
Het |
| Card11 |
G |
A |
5: 140,862,180 (GRCm39) |
P1039L |
possibly damaging |
Het |
| Cep43 |
T |
C |
17: 8,391,775 (GRCm39) |
S152P |
probably benign |
Het |
| Cnot8 |
T |
A |
11: 58,008,348 (GRCm39) |
N271K |
possibly damaging |
Het |
| Dcaf5 |
G |
T |
12: 80,444,493 (GRCm39) |
P200H |
probably damaging |
Het |
| Dkk4 |
C |
A |
8: 23,117,031 (GRCm39) |
L215I |
probably damaging |
Het |
| Dnhd1 |
C |
T |
7: 105,323,244 (GRCm39) |
T584I |
probably benign |
Het |
| Dock3 |
T |
C |
9: 106,874,124 (GRCm39) |
Y449C |
probably damaging |
Het |
| Dsg1a |
A |
G |
18: 20,453,988 (GRCm39) |
D31G |
probably damaging |
Het |
| Foxi2 |
C |
T |
7: 135,012,256 (GRCm39) |
T48M |
probably benign |
Het |
| Gdf3 |
T |
C |
6: 122,583,345 (GRCm39) |
M341V |
probably damaging |
Het |
| Gm21738 |
A |
G |
14: 19,415,942 (GRCm38) |
L199S |
probably benign |
Het |
| Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
| Igkv4-80 |
T |
A |
6: 68,993,811 (GRCm39) |
T27S |
probably benign |
Het |
| Ipo9 |
A |
T |
1: 135,313,173 (GRCm39) |
C1019S |
probably damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Ktn1 |
T |
A |
14: 47,904,820 (GRCm39) |
H199Q |
probably benign |
Het |
| Kyat3 |
A |
G |
3: 142,440,337 (GRCm39) |
M354V |
probably benign |
Het |
| Lbhd1 |
A |
G |
19: 8,861,453 (GRCm39) |
|
probably benign |
Het |
| Llgl1 |
G |
C |
11: 60,602,389 (GRCm39) |
|
probably null |
Het |
| Lyzl6 |
T |
A |
11: 103,525,899 (GRCm39) |
I74F |
probably damaging |
Het |
| Mfsd4b2 |
T |
A |
10: 39,798,017 (GRCm39) |
M113L |
probably benign |
Het |
| Mslnl |
T |
C |
17: 25,965,139 (GRCm39) |
Y502H |
probably benign |
Het |
| Nckap5 |
A |
G |
1: 125,952,245 (GRCm39) |
S1372P |
probably damaging |
Het |
| Nle1 |
T |
C |
11: 82,795,772 (GRCm39) |
D225G |
probably damaging |
Het |
| Or5au1 |
T |
C |
14: 52,273,341 (GRCm39) |
T76A |
possibly damaging |
Het |
| P2rx7 |
A |
G |
5: 122,819,066 (GRCm39) |
E496G |
probably damaging |
Het |
| Padi4 |
C |
T |
4: 140,473,515 (GRCm39) |
V641M |
probably benign |
Het |
| Phf11d |
T |
C |
14: 59,590,160 (GRCm39) |
I221V |
possibly damaging |
Het |
| Pla2g2c |
G |
A |
4: 138,458,856 (GRCm39) |
|
probably benign |
Het |
| Prdm16 |
A |
T |
4: 154,451,671 (GRCm39) |
D179E |
possibly damaging |
Het |
| Psca |
A |
T |
15: 74,588,240 (GRCm39) |
I56F |
probably damaging |
Het |
| Ptrhd1 |
A |
G |
12: 4,286,481 (GRCm39) |
Y124C |
probably damaging |
Het |
| Sardh |
T |
C |
2: 27,134,271 (GRCm39) |
T82A |
probably damaging |
Het |
| Sesn1 |
C |
T |
10: 41,770,984 (GRCm39) |
P172S |
probably benign |
Het |
| Setd4 |
T |
C |
16: 93,393,221 (GRCm39) |
T57A |
probably damaging |
Het |
| Skint5 |
T |
C |
4: 113,434,859 (GRCm39) |
T1037A |
unknown |
Het |
| Slc18a3 |
T |
C |
14: 32,185,777 (GRCm39) |
D202G |
probably damaging |
Het |
| Slc44a5 |
G |
A |
3: 153,948,760 (GRCm39) |
C176Y |
probably damaging |
Het |
| Slc6a5 |
G |
A |
7: 49,579,740 (GRCm39) |
V373M |
probably damaging |
Het |
| Sorbs3 |
T |
C |
14: 70,422,483 (GRCm39) |
I523V |
probably benign |
Het |
| Sspo |
T |
C |
6: 48,453,428 (GRCm39) |
V2872A |
probably damaging |
Het |
| Stard9 |
T |
A |
2: 120,529,824 (GRCm39) |
L2027H |
probably damaging |
Het |
| Tex2 |
T |
A |
11: 106,458,585 (GRCm39) |
|
probably benign |
Het |
| Tfdp1 |
C |
T |
8: 13,419,529 (GRCm39) |
T86M |
possibly damaging |
Het |
| Ttc6 |
A |
T |
12: 57,749,061 (GRCm39) |
D1331V |
possibly damaging |
Het |
| Vps13b |
A |
G |
15: 35,794,567 (GRCm39) |
T2326A |
possibly damaging |
Het |
| Wnk1 |
A |
G |
6: 120,014,149 (GRCm39) |
S149P |
probably benign |
Het |
| Zfp521 |
G |
A |
18: 13,980,035 (GRCm39) |
S126F |
probably damaging |
Het |
| Zfp958 |
A |
T |
8: 4,678,456 (GRCm39) |
E160D |
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 |
|
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'- AGCGGTACACAGTCATTCTCC -3'
(R):5'- ACAGCGTTGGAGGAAGTCTC -3'
Sequencing Primer
(F):5'- TCTTCTCTTCAAGAGGCCAAAG -3'
(R):5'- GGAAGTCTCCTCTGAAAATCAAGTC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation