Incidental Mutation 'R5032:Chsy3'
ID |
391790 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Chsy3
|
Ensembl Gene |
ENSMUSG00000058152 |
Gene Name |
chondroitin sulfate synthase 3 |
Synonyms |
4833446K15Rik |
MMRRC Submission |
042623-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5032 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
59308412-59544408 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 59312543 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 339
(Y339H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000079546
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080721]
|
AlphaFold |
Q5DTK1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000080721
AA Change: Y339H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000079546 Gene: ENSMUSG00000058152 AA Change: Y339H
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 |
0.3946 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.6%
- 20x: 93.0%
|
Validation Efficiency |
97% (77/79) |
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 |
1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
Actl9 |
A |
G |
17: 33,653,062 (GRCm39) |
N374S |
probably benign |
Het |
Adam34l |
T |
C |
8: 44,079,508 (GRCm39) |
N239D |
probably damaging |
Het |
Ahcyl2 |
T |
A |
6: 29,768,555 (GRCm39) |
|
probably benign |
Het |
Arfgef2 |
T |
C |
2: 166,720,464 (GRCm39) |
M1501T |
probably benign |
Het |
Asb17 |
A |
T |
3: 153,550,175 (GRCm39) |
D69V |
probably damaging |
Het |
Atp13a5 |
T |
C |
16: 29,082,202 (GRCm39) |
Y877C |
probably damaging |
Het |
Atrip |
T |
C |
9: 108,894,271 (GRCm39) |
Q64R |
probably benign |
Het |
Auts2 |
A |
G |
5: 131,505,730 (GRCm39) |
|
probably benign |
Het |
Cacna2d1 |
G |
T |
5: 16,564,068 (GRCm39) |
R893L |
probably damaging |
Het |
Ccdc138 |
C |
T |
10: 58,409,458 (GRCm39) |
R596C |
probably damaging |
Het |
Cd163 |
A |
G |
6: 124,288,628 (GRCm39) |
Y353C |
probably damaging |
Het |
Cdon |
T |
C |
9: 35,400,330 (GRCm39) |
Y1015H |
probably damaging |
Het |
Cspp1 |
T |
C |
1: 10,136,744 (GRCm39) |
W190R |
probably benign |
Het |
Ddx1 |
A |
T |
12: 13,273,993 (GRCm39) |
I570N |
probably damaging |
Het |
Duox1 |
G |
A |
2: 122,167,798 (GRCm39) |
R1027H |
probably benign |
Het |
Dync1h1 |
C |
T |
12: 110,593,326 (GRCm39) |
Q1198* |
probably null |
Het |
Ecel1 |
G |
A |
1: 87,081,975 (GRCm39) |
S246L |
probably damaging |
Het |
Fam228b |
T |
G |
12: 4,813,042 (GRCm39) |
R109S |
probably damaging |
Het |
Fut9 |
T |
A |
4: 25,799,245 (GRCm39) |
|
probably benign |
Het |
Gm5592 |
A |
G |
7: 40,939,159 (GRCm39) |
R814G |
probably damaging |
Het |
Gmps |
A |
G |
3: 63,897,746 (GRCm39) |
K233E |
probably benign |
Het |
Gramd1c |
A |
G |
16: 43,811,026 (GRCm39) |
Y438H |
probably damaging |
Het |
Gsdmc |
A |
T |
15: 63,673,882 (GRCm39) |
D134E |
possibly damaging |
Het |
Gxylt2 |
A |
G |
6: 100,760,142 (GRCm39) |
I226V |
probably benign |
Het |
Hc |
T |
C |
2: 34,903,544 (GRCm39) |
I1037V |
probably benign |
Het |
Hspa4 |
T |
G |
11: 53,179,950 (GRCm39) |
R69S |
possibly damaging |
Het |
Hspg2 |
C |
T |
4: 137,246,251 (GRCm39) |
R1010C |
probably damaging |
Het |
Kifc3 |
A |
G |
8: 95,829,354 (GRCm39) |
S508P |
probably damaging |
Het |
Krt7 |
G |
A |
15: 101,310,428 (GRCm39) |
R25H |
probably benign |
Het |
Lhfpl6 |
T |
A |
3: 52,950,854 (GRCm39) |
S43T |
possibly damaging |
Het |
Lrrc7 |
T |
A |
3: 157,887,217 (GRCm39) |
K394N |
possibly damaging |
Het |
Lypd4 |
A |
T |
7: 24,566,240 (GRCm39) |
L28Q |
probably damaging |
Het |
Mdc1 |
A |
G |
17: 36,161,481 (GRCm39) |
E798G |
probably benign |
Het |
Mta1 |
T |
A |
12: 113,097,145 (GRCm39) |
|
probably null |
Het |
Mtg2 |
A |
T |
2: 179,725,183 (GRCm39) |
Q132L |
possibly damaging |
Het |
Myh1 |
G |
T |
11: 67,096,874 (GRCm39) |
E382* |
probably null |
Het |
Myo3a |
T |
C |
2: 22,287,413 (GRCm39) |
L175P |
probably damaging |
Het |
Nckap5 |
A |
T |
1: 125,904,786 (GRCm39) |
F144L |
possibly damaging |
Het |
Nfrkb |
T |
A |
9: 31,300,351 (GRCm39) |
|
probably null |
Het |
Nmt2 |
C |
T |
2: 3,285,429 (GRCm39) |
P5L |
probably benign |
Het |
Nsmf |
T |
C |
2: 24,945,073 (GRCm39) |
|
probably null |
Het |
Oprl1 |
C |
T |
2: 181,360,795 (GRCm39) |
R257C |
probably damaging |
Het |
Or51q1 |
A |
T |
7: 103,628,581 (GRCm39) |
M61L |
probably damaging |
Het |
Or5a1 |
T |
A |
19: 12,097,420 (GRCm39) |
I219F |
probably benign |
Het |
Pcdhgc3 |
T |
A |
18: 37,940,638 (GRCm39) |
N346K |
probably damaging |
Het |
Pcnt |
G |
A |
10: 76,190,911 (GRCm39) |
P2791S |
probably benign |
Het |
Pdia3 |
A |
G |
2: 121,244,620 (GRCm39) |
N11S |
probably benign |
Het |
Pik3c2g |
A |
T |
6: 139,841,928 (GRCm39) |
T778S |
probably benign |
Het |
Pik3ip1 |
T |
A |
11: 3,283,520 (GRCm39) |
I75N |
probably damaging |
Het |
Pla2g4d |
A |
T |
2: 120,112,176 (GRCm39) |
Y118* |
probably null |
Het |
Ppargc1b |
A |
G |
18: 61,440,336 (GRCm39) |
S845P |
probably damaging |
Het |
Prdm2 |
A |
T |
4: 142,905,937 (GRCm39) |
L50* |
probably null |
Het |
Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
Pxdn |
G |
A |
12: 30,053,140 (GRCm39) |
V926I |
probably benign |
Het |
Rab11fip2 |
A |
T |
19: 59,925,799 (GRCm39) |
N139K |
probably damaging |
Het |
Rcn2 |
T |
A |
9: 55,960,300 (GRCm39) |
M189K |
probably damaging |
Het |
Rev1 |
A |
T |
1: 38,113,570 (GRCm39) |
|
probably benign |
Het |
Rhbg |
C |
A |
3: 88,152,441 (GRCm39) |
G368C |
probably damaging |
Het |
Rnf214 |
A |
G |
9: 45,811,042 (GRCm39) |
|
probably null |
Het |
Sf3a3 |
T |
C |
4: 124,618,959 (GRCm39) |
S307P |
probably benign |
Het |
Slc6a18 |
T |
A |
13: 73,814,442 (GRCm39) |
Y494F |
probably damaging |
Het |
Son |
T |
C |
16: 91,454,552 (GRCm39) |
S1100P |
probably damaging |
Het |
Spag16 |
T |
G |
1: 69,892,511 (GRCm39) |
N97K |
probably benign |
Het |
Tmem192 |
T |
C |
8: 65,412,163 (GRCm39) |
V114A |
possibly damaging |
Het |
Urb1 |
G |
T |
16: 90,553,059 (GRCm39) |
P1901T |
probably benign |
Het |
Vwa5b2 |
A |
G |
16: 20,419,459 (GRCm39) |
T601A |
probably damaging |
Het |
Wdtc1 |
G |
T |
4: 133,036,162 (GRCm39) |
T126K |
possibly damaging |
Het |
Xirp2 |
T |
C |
2: 67,356,014 (GRCm39) |
Y3592H |
possibly damaging |
Het |
Xylt2 |
A |
T |
11: 94,560,842 (GRCm39) |
V232E |
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 |
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'- AGGTGACTCTCGGCTTTCTC -3'
(R):5'- TTCCAAATCCGTGGTAAAGTCAC -3'
Sequencing Primer
(F):5'- TTCTAAGATCCCTAAATAGCAGCAAG -3'
(R):5'- GTGGTAAAGTCACGTGCTATG -3'
|
Posted On |
2016-06-06 |