Incidental Mutation 'R6985:Chsy3'
| ID |
557095 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chsy3
|
| Ensembl Gene |
ENSMUSG00000058152 |
| Gene Name |
chondroitin sulfate synthase 3 |
| Synonyms |
4833446K15Rik |
| MMRRC Submission |
045092-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6985 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
59308412-59544408 bp(+) (GRCm39) |
| Type of Mutation |
splice site (4 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 59309560 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000079546
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080721]
|
| AlphaFold |
Q5DTK1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000080721
|
| SMART Domains |
Protein: ENSMUSP00000079546
Gene: ENSMUSG00000058152
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.4%
|
| Validation Efficiency |
100% (66/66) |
| 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 |
|---|
| Akirin1 |
A |
G |
4: 123,630,649 (GRCm39) |
*192R |
probably null |
Het |
| Ankar |
A |
C |
1: 72,697,641 (GRCm39) |
L836R |
probably damaging |
Het |
| Anxa7 |
G |
T |
14: 20,521,636 (GRCm39) |
A20E |
unknown |
Het |
| Arhgap1 |
T |
A |
2: 91,498,543 (GRCm39) |
Y147N |
probably damaging |
Het |
| Arid2 |
T |
C |
15: 96,268,029 (GRCm39) |
V714A |
probably benign |
Het |
| Arrdc3 |
T |
C |
13: 81,031,776 (GRCm39) |
L3P |
probably damaging |
Het |
| Bhmt2 |
T |
C |
13: 93,799,830 (GRCm39) |
D202G |
possibly damaging |
Het |
| Bub1b |
A |
G |
2: 118,437,095 (GRCm39) |
R98G |
probably damaging |
Het |
| Capn10 |
T |
C |
1: 92,871,146 (GRCm39) |
Y319H |
probably damaging |
Het |
| Cep95 |
T |
C |
11: 106,709,529 (GRCm39) |
F115S |
probably damaging |
Het |
| Cnot1 |
T |
C |
8: 96,460,757 (GRCm39) |
N1755S |
probably benign |
Het |
| Cntn4 |
A |
G |
6: 106,656,378 (GRCm39) |
N893S |
probably benign |
Het |
| Ctsh |
G |
A |
9: 89,936,657 (GRCm39) |
A19T |
possibly damaging |
Het |
| Cttn |
C |
A |
7: 144,006,324 (GRCm39) |
E214* |
probably null |
Het |
| Des |
A |
G |
1: 75,343,431 (GRCm39) |
E438G |
possibly damaging |
Het |
| Dnaja4 |
T |
C |
9: 54,615,679 (GRCm39) |
V109A |
probably benign |
Het |
| Dock1 |
A |
G |
7: 134,765,132 (GRCm39) |
E1708G |
possibly damaging |
Het |
| Dst |
T |
C |
1: 34,229,934 (GRCm39) |
I2184T |
probably benign |
Het |
| Enc1 |
C |
T |
13: 97,381,628 (GRCm39) |
T46I |
possibly damaging |
Het |
| Etaa1 |
A |
G |
11: 17,896,108 (GRCm39) |
S670P |
probably damaging |
Het |
| Fam168b |
G |
A |
1: 34,858,789 (GRCm39) |
T131M |
probably damaging |
Het |
| Fbn2 |
A |
T |
18: 58,201,460 (GRCm39) |
V1319E |
probably damaging |
Het |
| Fcrl1 |
T |
A |
3: 87,296,957 (GRCm39) |
V302E |
probably benign |
Het |
| Fgfr3 |
G |
C |
5: 33,892,785 (GRCm39) |
E744Q |
probably null |
Het |
| Gmps |
T |
A |
3: 63,922,960 (GRCm39) |
I641N |
probably damaging |
Het |
| Gpc2 |
T |
A |
5: 138,276,670 (GRCm39) |
Y152F |
probably damaging |
Het |
| Herc2 |
G |
A |
7: 55,756,201 (GRCm39) |
R747H |
possibly damaging |
Het |
| Herc2 |
A |
G |
7: 55,782,228 (GRCm39) |
D1305G |
probably damaging |
Het |
| Ighv1-37 |
T |
C |
12: 114,860,252 (GRCm39) |
T14A |
probably benign |
Het |
| Insr |
T |
A |
8: 3,211,372 (GRCm39) |
M1156L |
possibly damaging |
Het |
| Kirrel2 |
C |
A |
7: 30,154,731 (GRCm39) |
G127C |
probably damaging |
Het |
| Krt10 |
T |
C |
11: 99,276,456 (GRCm39) |
N65S |
possibly damaging |
Het |
| Lrig3 |
A |
G |
10: 125,850,738 (GRCm39) |
I1101M |
possibly damaging |
Het |
| Lrrc55 |
T |
G |
2: 85,022,274 (GRCm39) |
N306H |
probably benign |
Het |
| Map4k3 |
A |
G |
17: 80,944,161 (GRCm39) |
S329P |
probably damaging |
Het |
| Mapkap1 |
T |
G |
2: 34,322,122 (GRCm39) |
H13Q |
probably damaging |
Het |
| Mki67 |
A |
G |
7: 135,315,594 (GRCm39) |
L60S |
probably damaging |
Het |
| Muc4 |
A |
T |
16: 32,570,817 (GRCm39) |
M626L |
probably benign |
Het |
| Mycbp2 |
C |
T |
14: 103,444,117 (GRCm39) |
V1914I |
possibly damaging |
Het |
| Myo5b |
T |
C |
18: 74,786,432 (GRCm39) |
F442L |
possibly damaging |
Het |
| Naa35 |
T |
A |
13: 59,775,757 (GRCm39) |
M545K |
probably benign |
Het |
| Nrxn2 |
T |
A |
19: 6,531,275 (GRCm39) |
V645E |
probably damaging |
Het |
| Or52z14 |
A |
G |
7: 103,252,875 (GRCm39) |
T5A |
probably benign |
Het |
| Or5af2 |
T |
C |
11: 58,707,939 (GRCm39) |
F35S |
probably damaging |
Het |
| Otx1 |
A |
T |
11: 21,946,615 (GRCm39) |
Y231* |
probably null |
Het |
| Pcdhb19 |
A |
G |
18: 37,630,211 (GRCm39) |
E2G |
probably benign |
Het |
| Pik3c2a |
G |
A |
7: 116,017,223 (GRCm39) |
T178I |
probably damaging |
Het |
| Plxna4 |
A |
G |
6: 32,214,643 (GRCm39) |
S613P |
probably damaging |
Het |
| Pon1 |
T |
G |
6: 5,168,345 (GRCm39) |
D354A |
probably benign |
Het |
| Prtg |
T |
G |
9: 72,758,783 (GRCm39) |
I379S |
probably damaging |
Het |
| Rbm17 |
T |
G |
2: 11,595,504 (GRCm39) |
M234L |
probably benign |
Het |
| Rex1bd |
T |
C |
8: 70,958,555 (GRCm39) |
S71G |
probably benign |
Het |
| Rictor |
C |
T |
15: 6,801,635 (GRCm39) |
S441L |
probably benign |
Het |
| Samd7 |
G |
C |
3: 30,805,272 (GRCm39) |
K18N |
probably benign |
Het |
| Shank1 |
A |
G |
7: 43,994,337 (GRCm39) |
I833V |
unknown |
Het |
| Slc35f1 |
C |
A |
10: 52,898,007 (GRCm39) |
D139E |
probably benign |
Het |
| Spata31d1a |
T |
C |
13: 59,850,907 (GRCm39) |
N407S |
probably benign |
Het |
| Spata31d1d |
T |
A |
13: 59,879,429 (GRCm39) |
I36F |
probably benign |
Het |
| Sstr4 |
T |
A |
2: 148,238,169 (GRCm39) |
M260K |
probably damaging |
Het |
| Ticam1 |
C |
T |
17: 56,576,900 (GRCm39) |
E732K |
probably benign |
Het |
| Trat1 |
A |
G |
16: 48,574,634 (GRCm39) |
Y55H |
probably damaging |
Het |
| Trgv6 |
G |
T |
13: 19,374,814 (GRCm39) |
G40W |
possibly damaging |
Het |
| Vcan |
T |
C |
13: 89,828,075 (GRCm39) |
T3124A |
probably damaging |
Het |
| Wdfy4 |
A |
T |
14: 32,821,074 (GRCm39) |
F1385Y |
possibly damaging |
Het |
| Xrcc3 |
T |
C |
12: 111,778,530 (GRCm39) |
D7G |
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 |
|
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 |
|
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'- TGACCGCACAGAAGTACCTG -3'
(R):5'- TCAGGCTAAGAATGATGGGC -3'
Sequencing Primer
(F):5'- AGTCAGCAATCTCCCAGTGCTG -3'
(R):5'- CTAAGAATGATGGGCGGATGC -3'
|
| Posted On |
2019-06-14 |
Incidental Mutation