Incidental Mutation 'R3787:Chsy3'
| ID |
272350 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chsy3
|
| Ensembl Gene |
ENSMUSG00000058152 |
| Gene Name |
chondroitin sulfate synthase 3 |
| Synonyms |
4833446K15Rik |
| MMRRC Submission |
040754-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3787 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
59308412-59544408 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 59542070 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 403
(Y403H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000079546
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080721]
|
| AlphaFold |
Q5DTK1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000080721
AA Change: Y403H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000079546
Gene: ENSMUSG00000058152
AA Change: Y403H
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| 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 |
|---|
| 3110082I17Rik |
G |
T |
5: 139,441,197 (GRCm39) |
P35Q |
probably damaging |
Het |
| Aoc1 |
T |
C |
6: 48,882,589 (GRCm39) |
L177P |
probably damaging |
Het |
| Aprt |
T |
C |
8: 123,302,268 (GRCm39) |
D65G |
probably benign |
Het |
| Auh |
C |
A |
13: 53,083,493 (GRCm39) |
R62L |
possibly damaging |
Het |
| Bmp4 |
C |
T |
14: 46,623,171 (GRCm39) |
|
probably null |
Het |
| Bptf |
C |
A |
11: 106,964,653 (GRCm39) |
D1514Y |
probably damaging |
Het |
| Carmil3 |
T |
C |
14: 55,734,433 (GRCm39) |
F418S |
probably damaging |
Het |
| Ccdc112 |
C |
T |
18: 46,432,365 (GRCm39) |
R72H |
probably benign |
Het |
| Ccdc138 |
T |
C |
10: 58,374,092 (GRCm39) |
Y371H |
probably damaging |
Het |
| Cul4a |
T |
C |
8: 13,183,668 (GRCm39) |
V352A |
probably damaging |
Het |
| Dennd3 |
T |
C |
15: 73,419,426 (GRCm39) |
V739A |
possibly damaging |
Het |
| Dmxl1 |
G |
A |
18: 49,998,189 (GRCm39) |
S763N |
probably damaging |
Het |
| Dmxl2 |
T |
C |
9: 54,277,162 (GRCm39) |
D2893G |
probably damaging |
Het |
| Dnah8 |
A |
G |
17: 30,974,015 (GRCm39) |
D2800G |
probably damaging |
Het |
| Dnaja2 |
C |
T |
8: 86,267,015 (GRCm39) |
G281R |
probably damaging |
Het |
| Exo1 |
A |
G |
1: 175,727,035 (GRCm39) |
T449A |
probably benign |
Het |
| Fancd2 |
T |
G |
6: 113,542,165 (GRCm39) |
S770A |
probably damaging |
Het |
| Fmo1 |
A |
T |
1: 162,657,583 (GRCm39) |
S519R |
possibly damaging |
Het |
| Fryl |
T |
C |
5: 73,258,819 (GRCm39) |
Y655C |
probably benign |
Het |
| Gpt2 |
G |
T |
8: 86,252,202 (GRCm39) |
V506L |
probably benign |
Het |
| Heatr1 |
G |
T |
13: 12,449,341 (GRCm39) |
L1946F |
probably damaging |
Het |
| Inpp5k |
T |
C |
11: 75,538,512 (GRCm39) |
L461P |
probably damaging |
Het |
| Magi2 |
C |
T |
5: 20,670,907 (GRCm39) |
T580M |
probably damaging |
Het |
| Mcm9 |
A |
G |
10: 53,492,076 (GRCm39) |
V415A |
possibly damaging |
Het |
| Mki67 |
A |
T |
7: 135,302,012 (GRCm39) |
N1007K |
possibly damaging |
Het |
| Mpped1 |
A |
T |
15: 83,680,784 (GRCm39) |
|
probably benign |
Het |
| Mtpap |
T |
C |
18: 4,380,670 (GRCm39) |
V116A |
probably damaging |
Het |
| Myo15a |
A |
T |
11: 60,368,398 (GRCm39) |
Y386F |
probably damaging |
Het |
| Neurod1 |
T |
A |
2: 79,284,939 (GRCm39) |
N148I |
probably damaging |
Het |
| Nfs1 |
A |
G |
2: 155,970,503 (GRCm39) |
I270T |
possibly damaging |
Het |
| Nr1i3 |
A |
G |
1: 171,041,994 (GRCm39) |
D26G |
probably damaging |
Het |
| Nsa2 |
G |
T |
13: 97,272,042 (GRCm39) |
Q60K |
possibly damaging |
Het |
| Or13a28 |
G |
A |
7: 140,217,748 (GRCm39) |
V45I |
probably benign |
Het |
| Or8g32 |
T |
C |
9: 39,305,678 (GRCm39) |
V197A |
probably benign |
Het |
| Pde4dip |
G |
T |
3: 97,622,868 (GRCm39) |
P1447Q |
possibly damaging |
Het |
| Plxna2 |
A |
G |
1: 194,326,242 (GRCm39) |
T59A |
probably benign |
Het |
| Pmepa1 |
G |
A |
2: 173,069,926 (GRCm39) |
R210W |
probably damaging |
Het |
| Ppp1r12c |
G |
A |
7: 4,489,583 (GRCm39) |
A193V |
probably damaging |
Het |
| Pramel48 |
T |
A |
5: 95,630,756 (GRCm39) |
L211Q |
probably damaging |
Het |
| Prdm15 |
G |
T |
16: 97,598,945 (GRCm39) |
H904Q |
probably benign |
Het |
| Rala |
T |
A |
13: 18,057,031 (GRCm39) |
E185V |
probably benign |
Het |
| Reep1 |
T |
A |
6: 71,772,199 (GRCm39) |
D162E |
probably damaging |
Het |
| Rev3l |
T |
A |
10: 39,722,206 (GRCm39) |
L2528Q |
probably damaging |
Het |
| Rfc1 |
A |
T |
5: 65,453,357 (GRCm39) |
S264T |
probably benign |
Het |
| Sall4 |
A |
G |
2: 168,598,043 (GRCm39) |
S266P |
probably damaging |
Het |
| Sipa1l2 |
C |
T |
8: 126,149,944 (GRCm39) |
A1602T |
probably benign |
Het |
| Sipa1l2 |
C |
A |
8: 126,177,122 (GRCm39) |
C1164F |
possibly damaging |
Het |
| Slc4a1ap |
T |
A |
5: 31,685,483 (GRCm39) |
L254I |
possibly damaging |
Het |
| Slc5a3 |
A |
G |
16: 91,874,816 (GRCm39) |
N291S |
possibly damaging |
Het |
| Stab2 |
T |
A |
10: 86,805,141 (GRCm39) |
D279V |
possibly damaging |
Het |
| Synrg |
T |
C |
11: 83,892,746 (GRCm39) |
F613S |
probably damaging |
Het |
| Tekt1 |
A |
G |
11: 72,235,720 (GRCm39) |
I376T |
probably damaging |
Het |
| Thbs4 |
T |
C |
13: 92,909,672 (GRCm39) |
N375S |
probably benign |
Het |
| Tro |
G |
A |
X: 149,438,048 (GRCm39) |
T203I |
possibly damaging |
Het |
| Txnl4b |
C |
T |
8: 110,299,409 (GRCm39) |
A123V |
probably damaging |
Het |
| Vmn1r63 |
T |
A |
7: 5,805,751 (GRCm39) |
M294L |
probably benign |
Het |
| Vmn2r58 |
C |
T |
7: 41,513,498 (GRCm39) |
D382N |
probably benign |
Het |
| Wap |
G |
A |
11: 6,588,550 (GRCm39) |
Q25* |
probably null |
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 |
|
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 |
|
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'- ATTAACGAAGTGCCACATTAGTTCG -3'
(R):5'- GGAACTCCCACTCCATGACTTC -3'
Sequencing Primer
(F):5'- ATTAACTATTTTCATGCTCCTTCTCC -3'
(R):5'- ATTTCTCTCCCGAGGCTGGAAG -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation