Incidental Mutation 'R8215:Chsy3'
ID |
636397 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Chsy3
|
Ensembl Gene |
ENSMUSG00000058152 |
Gene Name |
chondroitin sulfate synthase 3 |
Synonyms |
4833446K15Rik |
MMRRC Submission |
067657-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8215 (G1)
|
Quality Score |
111.008 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
59308412-59544408 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 59308941 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 65
(Q65*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000079546
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080721]
|
AlphaFold |
Q5DTK1 |
Predicted Effect |
probably null
Transcript: ENSMUST00000080721
AA Change: Q65*
|
SMART Domains |
Protein: ENSMUSP00000079546 Gene: ENSMUSG00000058152 AA Change: Q65*
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 |
0.9707 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 93.8%
|
Validation Efficiency |
100% (59/59) |
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930407I10Rik |
G |
T |
15: 81,949,301 (GRCm39) |
R1066L |
probably benign |
Het |
Abca14 |
A |
C |
7: 119,893,425 (GRCm39) |
I1292L |
probably benign |
Het |
Adam34l |
T |
A |
8: 44,079,538 (GRCm39) |
T229S |
probably benign |
Het |
Adamtsl1 |
T |
G |
4: 86,261,382 (GRCm39) |
F1206V |
probably benign |
Het |
Agl |
T |
C |
3: 116,582,293 (GRCm39) |
H243R |
probably damaging |
Het |
Btn2a2 |
A |
C |
13: 23,666,040 (GRCm39) |
L264R |
probably damaging |
Het |
Ccdc33 |
A |
T |
9: 57,939,995 (GRCm39) |
S749T |
probably benign |
Het |
Cd55b |
CTTTT |
CTTTTT |
1: 130,347,337 (GRCm39) |
|
probably null |
Het |
Cdh8 |
A |
G |
8: 99,757,498 (GRCm39) |
I700T |
possibly damaging |
Het |
Cfap65 |
A |
G |
1: 74,949,902 (GRCm39) |
L1201P |
probably damaging |
Het |
Clic5 |
T |
A |
17: 44,586,228 (GRCm39) |
L239* |
probably null |
Het |
Corin |
T |
C |
5: 72,462,361 (GRCm39) |
D957G |
probably damaging |
Het |
Cped1 |
A |
T |
6: 22,132,277 (GRCm39) |
Y486F |
probably damaging |
Het |
Csnk1g3 |
C |
T |
18: 54,081,151 (GRCm39) |
T374M |
probably benign |
Het |
D930020B18Rik |
T |
A |
10: 121,503,429 (GRCm39) |
C201* |
probably null |
Het |
Dnah2 |
A |
G |
11: 69,326,193 (GRCm39) |
F3653L |
probably damaging |
Het |
F11r |
GGTGTG |
GGTGTGTG |
1: 171,290,656 (GRCm39) |
|
probably null |
Het |
Foxj3 |
T |
G |
4: 119,478,808 (GRCm39) |
S455R |
unknown |
Het |
Gcnt3 |
T |
C |
9: 69,941,455 (GRCm39) |
D371G |
probably damaging |
Het |
Gm10837 |
A |
G |
14: 122,728,193 (GRCm39) |
E23G |
unknown |
Het |
Hivep3 |
T |
C |
4: 119,980,098 (GRCm39) |
V1712A |
probably damaging |
Het |
Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
Hoxa2 |
A |
G |
6: 52,140,041 (GRCm39) |
V315A |
probably damaging |
Het |
Irx5 |
A |
T |
8: 93,086,241 (GRCm39) |
Y108F |
possibly damaging |
Het |
Itsn1 |
T |
C |
16: 91,608,996 (GRCm39) |
I248T |
probably damaging |
Het |
Kcnb1 |
T |
C |
2: 166,946,361 (GRCm39) |
K829R |
probably benign |
Het |
Klhl17 |
A |
G |
4: 156,314,510 (GRCm39) |
V635A |
unknown |
Het |
Krr1 |
C |
T |
10: 111,815,834 (GRCm39) |
R234* |
probably null |
Het |
Lrrc7 |
A |
T |
3: 157,915,387 (GRCm39) |
D209E |
probably benign |
Het |
Mcm2 |
T |
C |
6: 88,874,293 (GRCm39) |
E71G |
probably damaging |
Het |
Mroh5 |
C |
A |
15: 73,691,139 (GRCm39) |
K10N |
probably damaging |
Het |
Myh3 |
A |
G |
11: 66,992,005 (GRCm39) |
E1850G |
probably damaging |
Het |
Nedd9 |
T |
C |
13: 41,492,319 (GRCm39) |
I64V |
probably benign |
Het |
Nisch |
A |
G |
14: 30,908,658 (GRCm39) |
S456P |
possibly damaging |
Het |
Nrcam |
T |
C |
12: 44,610,896 (GRCm39) |
V532A |
probably benign |
Het |
Or51k1 |
T |
C |
7: 103,661,330 (GRCm39) |
D193G |
possibly damaging |
Het |
Or5p51 |
T |
G |
7: 107,444,124 (GRCm39) |
D272A |
probably damaging |
Het |
Or7g32 |
T |
C |
9: 19,408,796 (GRCm39) |
F251L |
probably damaging |
Het |
Or8k17 |
C |
T |
2: 86,066,862 (GRCm39) |
V106M |
probably benign |
Het |
Plekhg1 |
C |
T |
10: 3,907,521 (GRCm39) |
P868S |
|
Het |
Ptf1a |
A |
G |
2: 19,450,760 (GRCm39) |
Q30R |
possibly damaging |
Het |
Ptgs1 |
G |
T |
2: 36,141,179 (GRCm39) |
C542F |
probably damaging |
Het |
Rere |
T |
A |
4: 150,701,424 (GRCm39) |
M1268K |
possibly damaging |
Het |
Rp1 |
A |
G |
1: 4,315,318 (GRCm39) |
F485L |
unknown |
Het |
Samd14 |
A |
T |
11: 94,905,213 (GRCm39) |
E8D |
probably benign |
Het |
Serpinh1 |
A |
G |
7: 98,995,545 (GRCm39) |
Y346H |
possibly damaging |
Het |
Shq1 |
A |
T |
6: 100,648,021 (GRCm39) |
M1K |
probably null |
Het |
Tfrc |
T |
C |
16: 32,443,848 (GRCm39) |
S551P |
probably damaging |
Het |
Tnr |
A |
C |
1: 159,715,860 (GRCm39) |
N874T |
possibly damaging |
Het |
Trak1 |
C |
A |
9: 121,298,096 (GRCm39) |
T667N |
probably damaging |
Het |
Trpv2 |
A |
C |
11: 62,481,757 (GRCm39) |
T423P |
probably damaging |
Het |
Ugt1a1 |
CAGAGAGAGAGAGA |
CAGAGAGAGAGA |
1: 88,139,706 (GRCm39) |
|
probably benign |
Het |
Vmn2r24 |
A |
G |
6: 123,756,077 (GRCm39) |
T50A |
probably benign |
Het |
Xirp2 |
T |
A |
2: 67,346,853 (GRCm39) |
D3031E |
probably benign |
Het |
Zbed6 |
G |
T |
1: 133,586,530 (GRCm39) |
A269E |
probably damaging |
Het |
Zbtb4 |
A |
C |
11: 69,669,598 (GRCm39) |
I774L |
probably benign |
Het |
Zbtb47 |
T |
C |
9: 121,596,344 (GRCm39) |
S604P |
probably benign |
Het |
Zfhx3 |
A |
G |
8: 109,677,349 (GRCm39) |
T2800A |
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 |
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 |
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'- TGTTCCGAGCCGCTACGAT -3'
(R):5'- ACTTCTGTGCGGTCATCACA -3'
Sequencing Primer
(F):5'- AGCCGCTACGATGGCCG -3'
(R):5'- ACGTACAGGAAGTCCCCG -3'
|
Posted On |
2020-07-13 |