Incidental Mutation 'IGL01472:Chsy3'
ID |
88285 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Chsy3
|
Ensembl Gene |
ENSMUSG00000058152 |
Gene Name |
chondroitin sulfate synthase 3 |
Synonyms |
4833446K15Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01472
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
59308412-59544408 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 59309439 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 231
(V231I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000079546
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080721]
|
AlphaFold |
Q5DTK1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000080721
AA Change: V231I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000079546 Gene: ENSMUSG00000058152 AA Change: V231I
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 |
|
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsm2 |
G |
A |
7: 119,153,759 (GRCm39) |
|
probably null |
Het |
Adamts4 |
T |
C |
1: 171,080,419 (GRCm39) |
F324S |
probably damaging |
Het |
Alg10b |
T |
A |
15: 90,111,900 (GRCm39) |
L248Q |
possibly damaging |
Het |
Antxr2 |
T |
A |
5: 98,175,358 (GRCm39) |
T90S |
probably benign |
Het |
Arhgap21 |
C |
T |
2: 20,854,392 (GRCm39) |
E1657K |
probably damaging |
Het |
Atp13a5 |
T |
G |
16: 29,094,175 (GRCm39) |
D803A |
probably damaging |
Het |
Bzw2 |
T |
C |
12: 36,159,795 (GRCm39) |
D185G |
probably damaging |
Het |
Camta2 |
A |
G |
11: 70,574,950 (GRCm39) |
S62P |
probably damaging |
Het |
Cep85 |
T |
C |
4: 133,861,477 (GRCm39) |
Q599R |
possibly damaging |
Het |
Cnbd2 |
C |
T |
2: 156,217,268 (GRCm39) |
R457W |
probably damaging |
Het |
Col20a1 |
A |
G |
2: 180,649,625 (GRCm39) |
T1036A |
probably benign |
Het |
Colgalt2 |
T |
C |
1: 152,382,629 (GRCm39) |
Y494H |
probably damaging |
Het |
Cox15 |
G |
T |
19: 43,732,104 (GRCm39) |
Y237* |
probably null |
Het |
Cpne9 |
C |
A |
6: 113,269,983 (GRCm39) |
S281Y |
possibly damaging |
Het |
D830013O20Rik |
G |
A |
12: 73,411,090 (GRCm39) |
|
noncoding transcript |
Het |
Dnah5 |
C |
T |
15: 28,331,872 (GRCm39) |
R2153C |
probably damaging |
Het |
Fam228a |
A |
G |
12: 4,765,610 (GRCm39) |
I267T |
possibly damaging |
Het |
Fat4 |
G |
A |
3: 38,942,219 (GRCm39) |
A371T |
probably damaging |
Het |
Gm1818 |
T |
C |
12: 48,603,072 (GRCm39) |
|
noncoding transcript |
Het |
Gm5592 |
T |
C |
7: 40,935,498 (GRCm39) |
|
probably benign |
Het |
Golga4 |
C |
A |
9: 118,361,642 (GRCm39) |
L207I |
probably damaging |
Het |
Gtf3c1 |
A |
G |
7: 125,250,226 (GRCm39) |
|
probably benign |
Het |
Hao1 |
C |
T |
2: 134,396,150 (GRCm39) |
E35K |
probably benign |
Het |
Iqch |
T |
C |
9: 63,455,216 (GRCm39) |
I194V |
probably benign |
Het |
Ism1 |
A |
T |
2: 139,599,223 (GRCm39) |
T392S |
probably damaging |
Het |
Lcmt1 |
A |
G |
7: 123,027,376 (GRCm39) |
Y313C |
probably damaging |
Het |
Loxl4 |
A |
G |
19: 42,585,988 (GRCm39) |
C718R |
probably damaging |
Het |
Lyar |
T |
G |
5: 38,382,066 (GRCm39) |
I16R |
possibly damaging |
Het |
Map3k20 |
T |
C |
2: 72,185,897 (GRCm39) |
|
probably benign |
Het |
Mtus1 |
T |
C |
8: 41,455,449 (GRCm39) |
T941A |
probably benign |
Het |
Myh8 |
A |
G |
11: 67,179,205 (GRCm39) |
|
probably benign |
Het |
Myof |
T |
C |
19: 37,911,524 (GRCm39) |
D1482G |
probably benign |
Het |
Nr4a3 |
C |
A |
4: 48,071,133 (GRCm39) |
A534D |
probably damaging |
Het |
Oas1c |
A |
G |
5: 120,940,986 (GRCm39) |
V269A |
probably damaging |
Het |
Odf2 |
T |
A |
2: 29,783,071 (GRCm39) |
S5T |
probably damaging |
Het |
Or5d36 |
T |
A |
2: 87,901,322 (GRCm39) |
T135S |
possibly damaging |
Het |
Or5p4 |
T |
C |
7: 107,680,411 (GRCm39) |
S137P |
probably benign |
Het |
Or9s27 |
T |
A |
1: 92,516,694 (GRCm39) |
M214K |
possibly damaging |
Het |
Pbk |
A |
G |
14: 66,054,159 (GRCm39) |
T235A |
probably benign |
Het |
Phrf1 |
T |
C |
7: 140,836,403 (GRCm39) |
|
probably benign |
Het |
Prkci |
A |
G |
3: 31,104,341 (GRCm39) |
D568G |
probably damaging |
Het |
Prom2 |
T |
A |
2: 127,374,802 (GRCm39) |
Y578F |
probably benign |
Het |
Prph |
T |
C |
15: 98,956,474 (GRCm39) |
|
probably benign |
Het |
Ryr3 |
A |
G |
2: 112,502,593 (GRCm39) |
V3527A |
probably benign |
Het |
Scn10a |
C |
T |
9: 119,446,829 (GRCm39) |
V1400I |
probably damaging |
Het |
Slc10a2 |
A |
G |
8: 5,141,652 (GRCm39) |
L244P |
probably damaging |
Het |
Tardbp |
A |
G |
4: 148,706,521 (GRCm39) |
V96A |
probably benign |
Het |
Tbc1d4 |
C |
A |
14: 101,727,300 (GRCm39) |
E504* |
probably null |
Het |
Tmed3 |
T |
C |
9: 89,584,928 (GRCm39) |
E109G |
probably benign |
Het |
Tnc |
C |
T |
4: 63,924,656 (GRCm39) |
R1014H |
probably benign |
Het |
Tpcn2 |
C |
T |
7: 144,821,115 (GRCm39) |
R313Q |
probably damaging |
Het |
Trim45 |
A |
G |
3: 100,835,381 (GRCm39) |
T455A |
probably benign |
Het |
Txlna |
A |
G |
4: 129,525,908 (GRCm39) |
I313T |
probably damaging |
Het |
Vmn1r202 |
A |
T |
13: 22,686,159 (GRCm39) |
I86K |
possibly damaging |
Het |
Vmn2r14 |
C |
A |
5: 109,364,180 (GRCm39) |
E579* |
probably null |
Het |
Wrn |
T |
A |
8: 33,819,200 (GRCm39) |
I8F |
possibly damaging |
Het |
Zc3h18 |
A |
G |
8: 123,143,396 (GRCm39) |
|
probably benign |
Het |
Zfyve26 |
A |
T |
12: 79,323,117 (GRCm39) |
H876Q |
probably benign |
Het |
Znrf2 |
C |
T |
6: 54,840,957 (GRCm39) |
T177I |
probably damaging |
Het |
|
Other mutations in Chsy3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
|
Posted On |
2013-11-18 |