Incidental Mutation 'R8029:Chsy3'
| ID |
617862 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chsy3
|
| Ensembl Gene |
ENSMUSG00000058152 |
| Gene Name |
chondroitin sulfate synthase 3 |
| Synonyms |
4833446K15Rik |
| MMRRC Submission |
067468-MU
|
| Accession Numbers |
Ncbi RefSeq: NM_001081328.1; MGI:1926173
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8029 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
59175401-59410446 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 59179447 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 331
(I331V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000079546
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080721]
|
| AlphaFold |
Q5DTK1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000080721
AA Change: I331V
PolyPhen 2
Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000079546
Gene: ENSMUSG00000058152
AA Change: I331V
| 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: 99.7%
- 20x: 99.0%
|
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700014D04Rik |
T |
C |
13: 59,742,377 (GRCm38) |
H543R |
possibly damaging |
Het |
| Acvr1c |
A |
G |
2: 58,296,117 (GRCm38) |
I118T |
possibly damaging |
Het |
| Alpk1 |
T |
C |
3: 127,729,285 (GRCm38) |
D36G |
possibly damaging |
Het |
| Aox2 |
G |
A |
1: 58,343,668 (GRCm38) |
V1036I |
probably benign |
Het |
| Arhgef1 |
T |
C |
7: 24,919,738 (GRCm38) |
L468P |
probably damaging |
Het |
| Armc2 |
A |
T |
10: 41,927,000 (GRCm38) |
L559Q |
probably damaging |
Het |
| Asb3 |
A |
T |
11: 31,101,180 (GRCm38) |
R506* |
probably null |
Het |
| Asna1 |
T |
C |
8: 85,019,827 (GRCm38) |
M131V |
probably benign |
Het |
| Aspm |
A |
G |
1: 139,471,632 (GRCm38) |
H1045R |
probably benign |
Het |
| Cacna1g |
G |
T |
11: 94,409,738 (GRCm38) |
R2099S |
probably benign |
Het |
| Cd177 |
C |
T |
7: 24,756,169 (GRCm38) |
W309* |
probably null |
Het |
| Cd34 |
A |
C |
1: 194,958,552 (GRCm38) |
M242L |
probably benign |
Het |
| Cdh24 |
T |
A |
14: 54,639,399 (GRCm38) |
N49I |
probably damaging |
Het |
| Ces2b |
A |
G |
8: 104,834,850 (GRCm38) |
N192S |
probably damaging |
Het |
| Disp1 |
A |
G |
1: 183,089,288 (GRCm38) |
S523P |
probably damaging |
Het |
| Dlgap5 |
T |
C |
14: 47,416,440 (GRCm38) |
H44R |
probably benign |
Het |
| Dnajc30 |
G |
T |
5: 135,064,332 (GRCm38) |
A28S |
probably benign |
Het |
| Dsc2 |
C |
T |
18: 20,032,274 (GRCm38) |
G881R |
possibly damaging |
Het |
| Exd1 |
A |
T |
2: 119,528,723 (GRCm38) |
H226Q |
probably damaging |
Het |
| Gata6 |
T |
A |
18: 11,054,944 (GRCm38) |
V291E |
possibly damaging |
Het |
| Gfi1b |
A |
T |
2: 28,613,675 (GRCm38) |
|
probably null |
Het |
| Grk3 |
T |
A |
5: 112,961,642 (GRCm38) |
I150L |
probably benign |
Het |
| Gstcd |
C |
T |
3: 133,082,107 (GRCm38) |
V277M |
probably damaging |
Het |
| Idua |
T |
C |
5: 108,669,412 (GRCm38) |
F17S |
probably benign |
Het |
| Ighg1 |
T |
C |
12: 113,329,145 (GRCm38) |
K268R |
|
Het |
| Lama1 |
G |
T |
17: 67,817,594 (GRCm38) |
R2883M |
|
Het |
| Lpar3 |
T |
C |
3: 146,240,963 (GRCm38) |
M132T |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,444,892 (GRCm38) |
T4351A |
possibly damaging |
Het |
| March6 |
A |
G |
15: 31,496,002 (GRCm38) |
|
probably null |
Het |
| Mbtps1 |
C |
A |
8: 119,547,805 (GRCm38) |
|
probably benign |
Het |
| Mctp1 |
T |
C |
13: 77,029,886 (GRCm38) |
Y931H |
probably damaging |
Het |
| Mug2 |
A |
G |
6: 122,081,545 (GRCm38) |
|
probably null |
Het |
| Myh1 |
G |
T |
11: 67,211,240 (GRCm38) |
|
probably null |
Het |
| Mylk2 |
T |
C |
2: 152,920,299 (GRCm38) |
S497P |
probably damaging |
Het |
| Nectin4 |
A |
G |
1: 171,386,687 (GRCm38) |
D470G |
probably benign |
Het |
| Nop2 |
C |
T |
6: 125,144,420 (GRCm38) |
P722S |
possibly damaging |
Het |
| Nphp1 |
T |
C |
2: 127,741,116 (GRCm38) |
T626A |
probably benign |
Het |
| Nudt9 |
C |
T |
5: 104,050,611 (GRCm38) |
|
probably benign |
Het |
| Olfr1145 |
A |
G |
2: 87,810,032 (GRCm38) |
T71A |
probably benign |
Het |
| Olfr18 |
A |
G |
9: 20,314,347 (GRCm38) |
F191S |
possibly damaging |
Het |
| Olfr512 |
T |
A |
7: 108,713,830 (GRCm38) |
F159Y |
possibly damaging |
Het |
| Olfr835 |
T |
C |
9: 19,035,794 (GRCm38) |
S224P |
probably damaging |
Het |
| Oplah |
T |
C |
15: 76,305,696 (GRCm38) |
Y143C |
probably benign |
Het |
| Osbpl1a |
T |
G |
18: 12,914,521 (GRCm38) |
E125D |
probably benign |
Het |
| P2ry1 |
C |
A |
3: 61,003,522 (GRCm38) |
N27K |
possibly damaging |
Het |
| Palld |
A |
T |
8: 61,877,312 (GRCm38) |
I177N |
probably damaging |
Het |
| Plcl1 |
A |
T |
1: 55,696,078 (GRCm38) |
I193L |
probably benign |
Het |
| Polr1a |
T |
A |
6: 71,912,956 (GRCm38) |
L53* |
probably null |
Het |
| Ppp1r9a |
A |
G |
6: 5,057,518 (GRCm38) |
E531G |
possibly damaging |
Het |
| Prex1 |
C |
A |
2: 166,575,603 (GRCm38) |
Q1361H |
probably benign |
Het |
| Ptprc |
T |
C |
1: 138,078,459 (GRCm38) |
E795G |
probably damaging |
Het |
| Rars |
C |
T |
11: 35,821,165 (GRCm38) |
V295I |
probably damaging |
Het |
| Rnaseh2b |
T |
C |
14: 62,353,548 (GRCm38) |
V116A |
possibly damaging |
Het |
| Rnf43 |
T |
A |
11: 87,731,894 (GRCm38) |
L480H |
probably benign |
Het |
| Rttn |
A |
G |
18: 89,090,474 (GRCm38) |
T1601A |
not run |
Het |
| Setd1a |
C |
G |
7: 127,786,214 (GRCm38) |
Q698E |
probably benign |
Het |
| Sh3gl3 |
T |
C |
7: 82,270,883 (GRCm38) |
Y100H |
probably benign |
Het |
| Sis |
T |
C |
3: 72,921,142 (GRCm38) |
Y1200C |
probably damaging |
Het |
| Snx13 |
A |
C |
12: 35,119,886 (GRCm38) |
H610P |
probably damaging |
Het |
| Spdl1 |
T |
C |
11: 34,822,592 (GRCm38) |
R217G |
probably benign |
Het |
| Spop |
G |
A |
11: 95,474,367 (GRCm38) |
E113K |
probably benign |
Het |
| Sult2a3 |
G |
A |
7: 14,121,628 (GRCm38) |
P101L |
probably damaging |
Het |
| Tbl1xr1 |
C |
T |
3: 22,200,436 (GRCm38) |
H348Y |
probably damaging |
Het |
| Tmie |
T |
C |
9: 110,867,487 (GRCm38) |
T109A |
possibly damaging |
Het |
| Ttc12 |
A |
G |
9: 49,470,251 (GRCm38) |
V140A |
possibly damaging |
Het |
| Ube2m |
A |
G |
7: 13,036,597 (GRCm38) |
L58P |
probably damaging |
Het |
| Urb1 |
A |
G |
16: 90,779,152 (GRCm38) |
S839P |
possibly damaging |
Het |
| Vmn2r117 |
T |
A |
17: 23,477,770 (GRCm38) |
D221V |
probably benign |
Het |
| Vps41 |
C |
T |
13: 18,823,785 (GRCm38) |
Q263* |
probably null |
Het |
| Zfand3 |
A |
T |
17: 30,135,433 (GRCm38) |
T75S |
probably benign |
Het |
| Zscan26 |
A |
G |
13: 21,445,350 (GRCm38) |
C202R |
probably damaging |
Het |
|
| Other mutations in Chsy3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01472:Chsy3
|
APN |
18 |
59,176,367 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01543:Chsy3
|
APN |
18 |
59,410,400 (GRCm38) |
nonsense |
probably null |
|
|
IGL01627:Chsy3
|
APN |
18 |
59,176,295 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02232:Chsy3
|
APN |
18 |
59,409,311 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
IGL02604:Chsy3
|
APN |
18 |
59,409,115 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02888:Chsy3
|
APN |
18 |
59,409,995 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL03199:Chsy3
|
APN |
18 |
59,176,401 (GRCm38) |
missense |
probably damaging |
1.00 |
|
bajo
|
UTSW |
18 |
59,176,166 (GRCm38) |
frame shift |
probably null |
|
|
bajo2
|
UTSW |
18 |
59,176,419 (GRCm38) |
missense |
probably damaging |
1.00 |
|
inferior
|
UTSW |
18 |
59,176,415 (GRCm38) |
missense |
probably damaging |
1.00 |
|
P0045:Chsy3
|
UTSW |
18 |
59,409,006 (GRCm38) |
nonsense |
probably null |
|
|
R0456:Chsy3
|
UTSW |
18 |
59,176,478 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0605:Chsy3
|
UTSW |
18 |
59,409,053 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R1068:Chsy3
|
UTSW |
18 |
59,410,289 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1479:Chsy3
|
UTSW |
18 |
59,408,913 (GRCm38) |
missense |
probably benign |
0.09 |
|
R1654:Chsy3
|
UTSW |
18 |
59,176,416 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1868:Chsy3
|
UTSW |
18 |
59,176,488 (GRCm38) |
splice site |
probably null |
|
|
R1938:Chsy3
|
UTSW |
18 |
59,409,512 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2114:Chsy3
|
UTSW |
18 |
59,179,489 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2146:Chsy3
|
UTSW |
18 |
59,176,472 (GRCm38) |
missense |
probably benign |
0.04 |
|
R3693:Chsy3
|
UTSW |
18 |
59,176,008 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R3787:Chsy3
|
UTSW |
18 |
59,408,998 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3811:Chsy3
|
UTSW |
18 |
59,176,170 (GRCm38) |
missense |
probably benign |
0.42 |
|
R3878:Chsy3
|
UTSW |
18 |
59,409,773 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4385:Chsy3
|
UTSW |
18 |
59,179,474 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R4385:Chsy3
|
UTSW |
18 |
59,176,352 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4512:Chsy3
|
UTSW |
18 |
59,410,187 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4734:Chsy3
|
UTSW |
18 |
59,179,413 (GRCm38) |
missense |
probably benign |
0.07 |
|
R4751:Chsy3
|
UTSW |
18 |
59,175,800 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R4982:Chsy3
|
UTSW |
18 |
59,409,767 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R4982:Chsy3
|
UTSW |
18 |
59,409,575 (GRCm38) |
missense |
probably benign |
0.07 |
|
R5032:Chsy3
|
UTSW |
18 |
59,179,471 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5088:Chsy3
|
UTSW |
18 |
59,179,535 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5220:Chsy3
|
UTSW |
18 |
59,410,030 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5257:Chsy3
|
UTSW |
18 |
59,409,794 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
R5259:Chsy3
|
UTSW |
18 |
59,410,246 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R5558:Chsy3
|
UTSW |
18 |
59,176,397 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5872:Chsy3
|
UTSW |
18 |
59,176,196 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5990:Chsy3
|
UTSW |
18 |
59,176,166 (GRCm38) |
frame shift |
probably null |
|
|
R5992:Chsy3
|
UTSW |
18 |
59,176,166 (GRCm38) |
frame shift |
probably null |
|
|
R6064:Chsy3
|
UTSW |
18 |
59,176,166 (GRCm38) |
frame shift |
probably null |
|
|
R6065:Chsy3
|
UTSW |
18 |
59,176,166 (GRCm38) |
frame shift |
probably null |
|
|
R6182:Chsy3
|
UTSW |
18 |
59,179,342 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6881:Chsy3
|
UTSW |
18 |
59,179,408 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6985:Chsy3
|
UTSW |
18 |
59,176,488 (GRCm38) |
splice site |
probably null |
|
|
R7046:Chsy3
|
UTSW |
18 |
59,409,803 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7078:Chsy3
|
UTSW |
18 |
59,176,077 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
R7105:Chsy3
|
UTSW |
18 |
59,176,419 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7129:Chsy3
|
UTSW |
18 |
59,410,298 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7151:Chsy3
|
UTSW |
18 |
59,409,285 (GRCm38) |
missense |
possibly damaging |
0.55 |
|
R7224:Chsy3
|
UTSW |
18 |
59,408,975 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7860:Chsy3
|
UTSW |
18 |
59,409,227 (GRCm38) |
missense |
probably benign |
0.10 |
|
R7936:Chsy3
|
UTSW |
18 |
59,409,346 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8010:Chsy3
|
UTSW |
18 |
59,410,154 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8215:Chsy3
|
UTSW |
18 |
59,175,869 (GRCm38) |
nonsense |
probably null |
|
|
R8332:Chsy3
|
UTSW |
18 |
59,409,015 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8375:Chsy3
|
UTSW |
18 |
59,179,513 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8560:Chsy3
|
UTSW |
18 |
59,410,058 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R8700:Chsy3
|
UTSW |
18 |
59,176,415 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9040:Chsy3
|
UTSW |
18 |
59,409,688 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9290:Chsy3
|
UTSW |
18 |
59,409,856 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9413:Chsy3
|
UTSW |
18 |
59,176,098 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R9490:Chsy3
|
UTSW |
18 |
59,179,414 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCCTGTGAAATGAGGACAG -3'
(R):5'- TACATAGGACTGTTGCCCAGGATG -3'
Sequencing Primer
(F):5'- AGGTGACTCTCGGCTTTCTC -3'
(R):5'- ATGCAAAGCGCCATCCTTGTTAG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation