Incidental Mutation 'R5088:Chsy3'
ID |
387610 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Chsy3
|
Ensembl Gene |
ENSMUSG00000058152 |
Gene Name |
chondroitin sulfate synthase 3 |
Synonyms |
4833446K15Rik |
MMRRC Submission |
042677-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5088 (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 59312607 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 360
(V360D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000079546
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080721]
|
AlphaFold |
Q5DTK1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000080721
AA Change: V360D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000079546 Gene: ENSMUSG00000058152 AA Change: V360D
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 |
0.1550 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.9%
|
Validation Efficiency |
99% (72/73) |
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930522L14Rik |
A |
T |
5: 109,883,939 (GRCm39) |
C640S |
probably damaging |
Het |
4931429L15Rik |
T |
C |
9: 46,217,038 (GRCm39) |
R246G |
probably benign |
Het |
Aak1 |
T |
C |
6: 86,921,462 (GRCm39) |
|
probably null |
Het |
Abcc5 |
A |
G |
16: 20,195,412 (GRCm39) |
L695P |
probably damaging |
Het |
Alcam |
T |
A |
16: 52,109,290 (GRCm39) |
T328S |
probably damaging |
Het |
Alpk1 |
A |
G |
3: 127,478,969 (GRCm39) |
|
probably benign |
Het |
Arel1 |
A |
G |
12: 84,970,889 (GRCm39) |
L642P |
probably damaging |
Het |
Atrip |
T |
C |
9: 108,888,964 (GRCm39) |
D741G |
probably damaging |
Het |
Bmp1 |
T |
C |
14: 70,723,659 (GRCm39) |
T726A |
possibly damaging |
Het |
Bnip3 |
A |
G |
7: 138,496,337 (GRCm39) |
|
probably null |
Het |
Cacng5 |
C |
G |
11: 107,768,215 (GRCm39) |
C264S |
possibly damaging |
Het |
Calr4 |
T |
A |
4: 109,101,859 (GRCm39) |
|
probably benign |
Het |
Cdhr1 |
T |
A |
14: 36,811,422 (GRCm39) |
T230S |
probably benign |
Het |
Cdk16 |
T |
C |
X: 20,562,566 (GRCm39) |
|
probably benign |
Het |
Cenpj |
T |
C |
14: 56,791,148 (GRCm39) |
E337G |
probably damaging |
Het |
Chd9 |
A |
G |
8: 91,704,147 (GRCm39) |
I694V |
possibly damaging |
Het |
Col16a1 |
C |
T |
4: 129,972,988 (GRCm39) |
T643M |
probably benign |
Het |
Col5a1 |
G |
A |
2: 27,908,614 (GRCm39) |
W67* |
probably null |
Het |
Cyp20a1 |
A |
T |
1: 60,402,509 (GRCm39) |
H198L |
probably damaging |
Het |
Dnai1 |
T |
A |
4: 41,597,630 (GRCm39) |
S38T |
probably benign |
Het |
Dnai1 |
T |
G |
4: 41,632,251 (GRCm39) |
S562A |
probably benign |
Het |
Dpy19l4 |
G |
T |
4: 11,303,357 (GRCm39) |
T188K |
probably damaging |
Het |
Ergic2 |
A |
G |
6: 148,084,621 (GRCm39) |
V304A |
probably damaging |
Het |
Fam83a |
A |
G |
15: 57,873,196 (GRCm39) |
T342A |
probably benign |
Het |
Fbxo7 |
A |
G |
10: 85,857,784 (GRCm39) |
|
probably benign |
Het |
Gins4 |
T |
C |
8: 23,727,084 (GRCm39) |
E3G |
possibly damaging |
Het |
Glis3 |
G |
A |
19: 28,508,979 (GRCm39) |
P335L |
probably benign |
Het |
Golph3l |
A |
T |
3: 95,524,501 (GRCm39) |
T251S |
possibly damaging |
Het |
Hnf4g |
C |
T |
3: 3,722,181 (GRCm39) |
A445V |
probably benign |
Het |
Hykk |
A |
G |
9: 54,853,763 (GRCm39) |
I362V |
probably benign |
Het |
Il6st |
G |
A |
13: 112,627,089 (GRCm39) |
V294M |
probably damaging |
Het |
Itpr1 |
A |
G |
6: 108,366,348 (GRCm39) |
I92V |
probably damaging |
Het |
Kdm4c |
T |
C |
4: 74,252,936 (GRCm39) |
L501P |
probably benign |
Het |
Mpi |
G |
A |
9: 57,457,887 (GRCm39) |
T105M |
probably damaging |
Het |
Mrpl37 |
A |
T |
4: 106,921,919 (GRCm39) |
L132H |
probably damaging |
Het |
Muc5ac |
A |
T |
7: 141,350,056 (GRCm39) |
T600S |
possibly damaging |
Het |
Npl |
A |
T |
1: 153,384,890 (GRCm39) |
I249N |
possibly damaging |
Het |
Or10j27 |
C |
T |
1: 172,958,606 (GRCm39) |
M59I |
probably damaging |
Het |
Or7g30 |
A |
G |
9: 19,353,067 (GRCm39) |
N286S |
probably damaging |
Het |
Pkd1 |
A |
G |
17: 24,809,812 (GRCm39) |
K3497E |
possibly damaging |
Het |
Ptprt |
T |
C |
2: 162,080,095 (GRCm39) |
N235D |
probably benign |
Het |
Rangap1 |
A |
C |
15: 81,594,664 (GRCm39) |
D388E |
probably benign |
Het |
Rcvrn |
A |
T |
11: 67,586,340 (GRCm39) |
Q33L |
probably benign |
Het |
Rif1 |
A |
T |
2: 51,982,307 (GRCm39) |
K524I |
possibly damaging |
Het |
Rnf139 |
A |
T |
15: 58,771,790 (GRCm39) |
N605I |
possibly damaging |
Het |
Ryr2 |
C |
A |
13: 11,727,129 (GRCm39) |
G2411* |
probably null |
Het |
Scn3a |
A |
T |
2: 65,302,643 (GRCm39) |
S1268T |
probably damaging |
Het |
Sema6a |
T |
A |
18: 47,382,196 (GRCm39) |
I784F |
probably damaging |
Het |
Sgms2 |
C |
T |
3: 131,124,005 (GRCm39) |
V232M |
probably benign |
Het |
Skint7 |
T |
C |
4: 111,837,627 (GRCm39) |
I135T |
possibly damaging |
Het |
Smchd1 |
A |
T |
17: 71,738,343 (GRCm39) |
N507K |
possibly damaging |
Het |
Spata31d1a |
A |
C |
13: 59,848,966 (GRCm39) |
|
probably null |
Het |
Spata7 |
A |
T |
12: 98,635,761 (GRCm39) |
D527V |
probably benign |
Het |
Srcap |
A |
G |
7: 127,140,833 (GRCm39) |
T1477A |
probably benign |
Het |
Srl |
C |
A |
16: 4,300,633 (GRCm39) |
D375Y |
probably damaging |
Het |
Stk4 |
A |
T |
2: 163,925,608 (GRCm39) |
K58* |
probably null |
Het |
Svep1 |
T |
G |
4: 58,120,648 (GRCm39) |
H795P |
possibly damaging |
Het |
Trak2 |
T |
A |
1: 58,974,967 (GRCm39) |
Q75L |
probably benign |
Het |
Ubxn2a |
T |
A |
12: 4,933,904 (GRCm39) |
N169I |
probably damaging |
Het |
Vmn1r216 |
T |
A |
13: 23,283,473 (GRCm39) |
L52* |
probably null |
Het |
Vmn2r108 |
A |
T |
17: 20,690,454 (GRCm39) |
N459K |
possibly damaging |
Het |
Vstm5 |
A |
G |
9: 15,168,601 (GRCm39) |
D55G |
possibly damaging |
Het |
Wdr24 |
T |
A |
17: 26,047,181 (GRCm39) |
|
probably null |
Het |
Zfp13 |
C |
A |
17: 23,796,035 (GRCm39) |
E179* |
probably null |
Het |
Zfp839 |
T |
C |
12: 110,834,610 (GRCm39) |
S546P |
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 |
|
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 |
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'- CTGGGCAATACTGAAGAACTTG -3'
(R):5'- TCCAGCGGCAGAGATGTAAC -3'
Sequencing Primer
(F):5'- CAATACTGAAGAACTTGGAAAGCTG -3'
(R):5'- TGTAACGGAAAGTGTGCTTAAAG -3'
|
Posted On |
2016-06-06 |