Incidental Mutation 'R5558:Chsy3'
ID |
436434 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Chsy3
|
Ensembl Gene |
ENSMUSG00000058152 |
Gene Name |
chondroitin sulfate synthase 3 |
Synonyms |
4833446K15Rik |
MMRRC Submission |
043115-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5558 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
59308412-59544408 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 59309469 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Alanine
at position 241
(S241A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000079546
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080721]
|
AlphaFold |
Q5DTK1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000080721
AA Change: S241A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000079546 Gene: ENSMUSG00000058152 AA Change: S241A
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: 98.2%
- 20x: 94.6%
|
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg4 |
T |
C |
9: 44,192,705 (GRCm39) |
K177E |
probably damaging |
Het |
Acvr1 |
T |
C |
2: 58,349,029 (GRCm39) |
T378A |
probably damaging |
Het |
Agtpbp1 |
A |
G |
13: 59,630,394 (GRCm39) |
V779A |
probably benign |
Het |
Alms1 |
C |
T |
6: 85,618,311 (GRCm39) |
Q2786* |
probably null |
Het |
Arhgef28 |
A |
C |
13: 98,097,968 (GRCm39) |
L882R |
probably damaging |
Het |
Cbx2 |
A |
G |
11: 118,919,775 (GRCm39) |
T447A |
probably benign |
Het |
Ch25h |
A |
G |
19: 34,451,863 (GRCm39) |
W222R |
probably damaging |
Het |
Cyfip1 |
T |
C |
7: 55,541,749 (GRCm39) |
S345P |
possibly damaging |
Het |
Cyp4a30b |
C |
A |
4: 115,316,063 (GRCm39) |
D291E |
probably damaging |
Het |
Dcstamp |
A |
G |
15: 39,622,936 (GRCm39) |
Y419C |
probably damaging |
Het |
Eif3d |
G |
A |
15: 77,846,047 (GRCm39) |
R359C |
probably damaging |
Het |
Elavl4 |
C |
A |
4: 110,063,800 (GRCm39) |
G267V |
probably benign |
Het |
Gars1 |
T |
C |
6: 55,042,592 (GRCm39) |
S442P |
probably damaging |
Het |
Gas6 |
C |
T |
8: 13,516,764 (GRCm39) |
R578Q |
probably null |
Het |
H4c4 |
C |
A |
13: 23,765,779 (GRCm39) |
N65K |
possibly damaging |
Het |
Ifitm6 |
T |
C |
7: 140,595,985 (GRCm39) |
I103V |
probably benign |
Het |
Igsf5 |
T |
A |
16: 96,187,731 (GRCm39) |
I241N |
possibly damaging |
Het |
Iqce |
A |
G |
5: 140,657,560 (GRCm39) |
|
probably null |
Het |
Khdc4 |
A |
C |
3: 88,600,403 (GRCm39) |
H164P |
probably damaging |
Het |
Kif20b |
C |
A |
19: 34,928,949 (GRCm39) |
Q1192K |
probably damaging |
Het |
Lap3 |
A |
G |
5: 45,662,093 (GRCm39) |
N298D |
probably benign |
Het |
Lca5 |
A |
T |
9: 83,283,796 (GRCm39) |
S246T |
probably damaging |
Het |
Mrps5 |
G |
A |
2: 127,444,355 (GRCm39) |
G330S |
probably damaging |
Het |
Myh15 |
C |
T |
16: 48,889,900 (GRCm39) |
R164C |
probably benign |
Het |
Myo19 |
C |
G |
11: 84,801,274 (GRCm39) |
P940R |
probably damaging |
Het |
Or10j7 |
T |
C |
1: 173,011,585 (GRCm39) |
R139G |
probably benign |
Het |
Or5b12b |
T |
C |
19: 12,861,751 (GRCm39) |
F169L |
probably benign |
Het |
Pcdh10 |
A |
G |
3: 45,338,603 (GRCm39) |
D920G |
probably damaging |
Het |
Pgm5 |
A |
T |
19: 24,801,815 (GRCm39) |
|
probably null |
Het |
Phactr4 |
T |
C |
4: 132,105,766 (GRCm39) |
E137G |
probably damaging |
Het |
Pkn1 |
C |
T |
8: 84,411,351 (GRCm39) |
V239M |
probably damaging |
Het |
Plcz1 |
T |
A |
6: 139,985,481 (GRCm39) |
D20V |
probably damaging |
Het |
Prkca |
A |
T |
11: 107,872,473 (GRCm39) |
I429N |
probably damaging |
Het |
Ptk2 |
A |
T |
15: 73,176,294 (GRCm39) |
Y251N |
probably damaging |
Het |
R3hdm2 |
T |
C |
10: 127,280,271 (GRCm39) |
F31S |
probably damaging |
Het |
Rab11fip1 |
T |
A |
8: 27,642,003 (GRCm39) |
E932V |
probably damaging |
Het |
Rilp |
A |
G |
11: 75,402,251 (GRCm39) |
Y250C |
probably damaging |
Het |
Sclt1 |
A |
G |
3: 41,616,025 (GRCm39) |
I474T |
probably benign |
Het |
Slc14a2 |
T |
A |
18: 78,202,381 (GRCm39) |
D583V |
possibly damaging |
Het |
Slc30a4 |
A |
G |
2: 122,528,903 (GRCm39) |
I324T |
probably damaging |
Het |
Slc6a5 |
G |
A |
7: 49,577,321 (GRCm39) |
V326I |
probably benign |
Het |
Slco1c1 |
C |
T |
6: 141,513,222 (GRCm39) |
T617I |
probably damaging |
Het |
Sntg1 |
A |
G |
1: 8,484,495 (GRCm39) |
S442P |
possibly damaging |
Het |
Sys1 |
G |
T |
2: 164,306,429 (GRCm39) |
A128S |
possibly damaging |
Het |
Tbc1d2 |
C |
T |
4: 46,629,912 (GRCm39) |
G252R |
probably benign |
Het |
Tmed5 |
A |
G |
5: 108,272,462 (GRCm39) |
I212T |
probably benign |
Het |
Tnks |
T |
C |
8: 35,432,819 (GRCm39) |
M1V |
probably null |
Het |
Trpa1 |
T |
C |
1: 14,968,492 (GRCm39) |
H452R |
probably damaging |
Het |
Trpm3 |
T |
C |
19: 22,955,937 (GRCm39) |
V1133A |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,555,395 (GRCm39) |
I30537F |
probably damaging |
Het |
Ush2a |
T |
C |
1: 188,530,024 (GRCm39) |
V3271A |
possibly damaging |
Het |
Utp20 |
C |
G |
10: 88,587,329 (GRCm39) |
G2489R |
probably damaging |
Het |
Vmn1r70 |
A |
T |
7: 10,368,402 (GRCm39) |
S278C |
probably benign |
Het |
Wdpcp |
G |
A |
11: 21,661,732 (GRCm39) |
A335T |
probably benign |
Het |
Zc3h18 |
G |
T |
8: 123,113,659 (GRCm39) |
R217L |
probably damaging |
Het |
Zfp384 |
ACAGCAGCAGCAGCAGCAGCAGC |
ACAGCAGCAGCAGCAGCAGC |
6: 125,013,472 (GRCm39) |
|
probably benign |
Het |
Zfp955b |
C |
T |
17: 33,521,161 (GRCm39) |
T210I |
possibly 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 |
|
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 |
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'- ACAGAAGTACCTGGGCAGTC -3'
(R):5'- TCAGGCTAAGAATGATGGGC -3'
Sequencing Primer
(F):5'- CGTGGAGTTCTTTTCCAG -3'
(R):5'- TGGATAGCTGGCCAGGG -3'
|
Posted On |
2016-10-24 |