Incidental Mutation 'R7129:Chsy3'
| ID |
552550 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chsy3
|
| Ensembl Gene |
ENSMUSG00000058152 |
| Gene Name |
chondroitin sulfate synthase 3 |
| Synonyms |
4833446K15Rik |
| MMRRC Submission |
045214-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7129 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
59308412-59544408 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 59543370 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 836
(H836L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000079546
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080721]
|
| AlphaFold |
Q5DTK1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000080721
AA Change: H836L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000079546
Gene: ENSMUSG00000058152
AA Change: H836L
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (58/59) |
| 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 |
|---|
| 1700030K09Rik |
A |
G |
8: 73,209,199 (GRCm39) |
E443G |
probably damaging |
Het |
| 2700049A03Rik |
A |
G |
12: 71,263,004 (GRCm39) |
|
probably null |
Het |
| 3110082I17Rik |
A |
G |
5: 139,349,738 (GRCm39) |
Y104H |
probably damaging |
Het |
| Abcg4 |
T |
C |
9: 44,190,681 (GRCm39) |
K282E |
probably benign |
Het |
| Adamts17 |
T |
C |
7: 66,770,758 (GRCm39) |
S956P |
probably damaging |
Het |
| Adh1 |
T |
C |
3: 137,986,235 (GRCm39) |
V74A |
probably damaging |
Het |
| Akt1 |
A |
T |
12: 112,626,083 (GRCm39) |
M63K |
probably benign |
Het |
| Arfrp1 |
G |
A |
2: 181,001,344 (GRCm39) |
R177* |
probably null |
Het |
| Arl11 |
A |
G |
14: 61,548,346 (GRCm39) |
E52G |
possibly damaging |
Het |
| BC051019 |
T |
C |
7: 109,319,825 (GRCm39) |
S10G |
|
Het |
| Bfsp2 |
T |
A |
9: 103,357,118 (GRCm39) |
E103V |
probably damaging |
Het |
| Bms1 |
G |
T |
6: 118,380,122 (GRCm39) |
C728* |
probably null |
Het |
| Cachd1 |
T |
G |
4: 100,775,263 (GRCm39) |
N159K |
probably null |
Het |
| Cd38 |
A |
G |
5: 44,067,651 (GRCm39) |
N294S |
probably benign |
Het |
| Cfap54 |
T |
C |
10: 92,852,433 (GRCm39) |
N891S |
probably benign |
Het |
| Cldn16 |
A |
T |
16: 26,301,388 (GRCm39) |
D232V |
probably damaging |
Het |
| Dhx33 |
A |
T |
11: 70,884,689 (GRCm39) |
I425N |
probably damaging |
Het |
| Dock4 |
A |
G |
12: 40,878,878 (GRCm39) |
N1506D |
probably damaging |
Het |
| Dok7 |
T |
C |
5: 35,236,392 (GRCm39) |
S227P |
probably damaging |
Het |
| Elf2 |
T |
C |
3: 51,168,432 (GRCm39) |
R201G |
probably damaging |
Het |
| Elp1 |
T |
C |
4: 56,787,944 (GRCm39) |
H329R |
probably damaging |
Het |
| Etaa1 |
T |
C |
11: 17,890,339 (GRCm39) |
R841G |
possibly damaging |
Het |
| Exoc4 |
T |
C |
6: 33,948,934 (GRCm39) |
Y926H |
probably damaging |
Het |
| Fras1 |
A |
G |
5: 96,929,143 (GRCm39) |
H3849R |
probably benign |
Het |
| Hapln3 |
C |
T |
7: 78,771,572 (GRCm39) |
G106R |
probably damaging |
Het |
| Hmcn1 |
A |
C |
1: 150,452,961 (GRCm39) |
|
probably null |
Het |
| Ifitm7 |
A |
T |
16: 13,801,600 (GRCm39) |
I53N |
possibly damaging |
Het |
| Il6ra |
T |
C |
3: 89,778,554 (GRCm39) |
N433D |
probably damaging |
Het |
| Iqch |
C |
T |
9: 63,329,191 (GRCm39) |
V1048I |
probably benign |
Het |
| Kif20a |
A |
G |
18: 34,765,588 (GRCm39) |
T862A |
probably benign |
Het |
| Mcrs1 |
G |
A |
15: 99,146,609 (GRCm39) |
L141F |
probably damaging |
Het |
| Nkx3-2 |
A |
G |
5: 41,919,017 (GRCm39) |
S324P |
probably damaging |
Het |
| Nmi |
A |
T |
2: 51,845,936 (GRCm39) |
|
probably null |
Het |
| Nufip1 |
A |
G |
14: 76,372,325 (GRCm39) |
K480E |
possibly damaging |
Het |
| Oit3 |
T |
A |
10: 59,264,166 (GRCm39) |
I323F |
probably damaging |
Het |
| Or2ag17 |
T |
C |
7: 106,389,690 (GRCm39) |
K173E |
probably benign |
Het |
| Or5b98 |
A |
T |
19: 12,931,478 (GRCm39) |
H175L |
possibly damaging |
Het |
| Pcdha11 |
A |
G |
18: 37,140,291 (GRCm39) |
E640G |
probably benign |
Het |
| Phip |
C |
T |
9: 82,759,353 (GRCm39) |
V1366I |
probably damaging |
Het |
| Plin5 |
T |
C |
17: 56,422,174 (GRCm39) |
M162V |
probably null |
Het |
| Podxl2 |
A |
G |
6: 88,820,487 (GRCm39) |
|
probably null |
Het |
| Ptprb |
GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT |
GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT |
10: 116,119,582 (GRCm39) |
|
probably benign |
Het |
| Rab4a |
A |
T |
8: 124,554,069 (GRCm39) |
D40V |
probably benign |
Het |
| Scn7a |
A |
G |
2: 66,530,537 (GRCm39) |
F603L |
probably benign |
Het |
| Slfn5 |
A |
T |
11: 82,851,976 (GRCm39) |
K701* |
probably null |
Het |
| Speer4f2 |
A |
G |
5: 17,582,446 (GRCm39) |
D223G |
|
Het |
| Stip1 |
C |
T |
19: 6,999,178 (GRCm39) |
G467S |
possibly damaging |
Het |
| Tas2r117 |
A |
T |
6: 132,780,350 (GRCm39) |
T163S |
probably benign |
Het |
| Tecta |
T |
C |
9: 42,259,287 (GRCm39) |
D1532G |
probably damaging |
Het |
| Tmem63a |
T |
C |
1: 180,782,441 (GRCm39) |
I146T |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,646,515 (GRCm39) |
G12844W |
probably damaging |
Het |
| Usp22 |
T |
C |
11: 61,053,775 (GRCm39) |
I190V |
probably damaging |
Het |
| Usp24 |
T |
C |
4: 106,219,412 (GRCm39) |
I536T |
probably damaging |
Het |
| Vmn1r23 |
A |
G |
6: 57,903,061 (GRCm39) |
V239A |
possibly damaging |
Het |
| Vmn1r9 |
A |
C |
6: 57,048,611 (GRCm39) |
T229P |
probably damaging |
Het |
| Zbtb21 |
AGCTGCTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGC |
AGCTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGC |
16: 97,752,887 (GRCm39) |
|
probably benign |
Het |
| Zbtb8a |
G |
C |
4: 129,254,188 (GRCm39) |
A102G |
probably damaging |
Het |
| Zfp51 |
T |
C |
17: 21,681,971 (GRCm39) |
W57R |
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 |
|
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 |
|
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'- CTTTGTATTCTCAAAGGAAACTGGG -3'
(R):5'- GAGGTAAACTCCCCTTTCCAAAGG -3'
Sequencing Primer
(F):5'- CTCAAAGGAAACTGGGTTTTGG -3'
(R):5'- TCTAACCAGAGTTCAGCC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation