Incidental Mutation 'IGL02961:Chsy1'
ID |
365359 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Chsy1
|
Ensembl Gene |
ENSMUSG00000032640 |
Gene Name |
chondroitin sulfate synthase 1 |
Synonyms |
skt |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02961
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
65759263-65823546 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 65821530 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 588
(D588E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000047487
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036372]
|
AlphaFold |
Q6ZQ11 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000036372
AA Change: D588E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000047487 Gene: ENSMUSG00000032640 AA Change: D588E
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
Pfam:Fringe
|
81 |
307 |
3.8e-21 |
PFAM |
Pfam:CHGN
|
237 |
776 |
9.8e-197 |
PFAM |
Pfam:Glyco_tranf_2_2
|
548 |
751 |
1.2e-10 |
PFAM |
Pfam:Glyco_transf_7C
|
674 |
747 |
2.5e-13 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181911
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the chondroitin N-acetylgalactosaminyltransferase family. These enzymes possess dual glucuronyltransferase and galactosaminyltransferase activity and play critical roles in the biosynthesis of chondroitin sulfate, a glycosaminoglycan involved in many biological processes including cell proliferation and morphogenesis. Decreased expression of this gene may play a role in colorectal cancer, and mutations in this gene are a cause of temtamy preaxial brachydactyly syndrome. [provided by RefSeq, Dec 2011] PHENOTYPE: Homozygous mice are viable, but display chondrodysplasia, brachydactyly and decreased bone density. Retinal degeneration, impaired motor strength, and hematological abnormalities are also seen. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrv1 |
A |
G |
13: 81,671,731 (GRCm39) |
V2288A |
probably damaging |
Het |
Agbl4 |
T |
A |
4: 110,437,318 (GRCm39) |
N76K |
probably damaging |
Het |
AI182371 |
A |
T |
2: 34,976,124 (GRCm39) |
V258E |
possibly damaging |
Het |
Alg1 |
T |
A |
16: 5,052,861 (GRCm39) |
N80K |
probably benign |
Het |
Ambra1 |
A |
G |
2: 91,741,793 (GRCm39) |
M963V |
possibly damaging |
Het |
Avil |
C |
A |
10: 126,844,175 (GRCm39) |
Q245K |
probably benign |
Het |
Caml |
A |
G |
13: 55,779,695 (GRCm39) |
N256S |
probably benign |
Het |
Ccdc102a |
A |
C |
8: 95,629,978 (GRCm39) |
I521S |
possibly damaging |
Het |
Ccm2l |
A |
G |
2: 152,920,521 (GRCm39) |
T393A |
probably benign |
Het |
Cdh16 |
A |
G |
8: 105,341,837 (GRCm39) |
V91A |
probably damaging |
Het |
Chd7 |
A |
G |
4: 8,751,542 (GRCm39) |
D13G |
probably damaging |
Het |
Cilp |
T |
A |
9: 65,185,891 (GRCm39) |
V662E |
possibly damaging |
Het |
Cog8 |
A |
G |
8: 107,782,885 (GRCm39) |
|
probably benign |
Het |
Cpb2 |
T |
C |
14: 75,502,823 (GRCm39) |
V134A |
probably benign |
Het |
Ctcfl |
T |
A |
2: 172,943,712 (GRCm39) |
H546L |
possibly damaging |
Het |
Dclre1c |
A |
G |
2: 3,438,070 (GRCm39) |
D136G |
probably damaging |
Het |
Dnah2 |
T |
A |
11: 69,409,240 (GRCm39) |
E379D |
probably damaging |
Het |
Extl3 |
A |
G |
14: 65,294,408 (GRCm39) |
Y808H |
possibly damaging |
Het |
Gm7247 |
T |
A |
14: 51,602,812 (GRCm39) |
N49K |
probably damaging |
Het |
Insr |
T |
C |
8: 3,308,785 (GRCm39) |
I84V |
probably benign |
Het |
Ipo7 |
C |
T |
7: 109,646,223 (GRCm39) |
P541S |
probably benign |
Het |
Kcnc3 |
T |
C |
7: 44,240,916 (GRCm39) |
S203P |
probably damaging |
Het |
Myo5a |
A |
G |
9: 75,122,402 (GRCm39) |
D1732G |
probably benign |
Het |
Or10q3 |
T |
A |
19: 11,847,695 (GRCm39) |
N295I |
probably damaging |
Het |
Or52d1 |
C |
A |
7: 103,756,357 (GRCm39) |
Y290* |
probably null |
Het |
Or5p68 |
T |
C |
7: 107,945,334 (GRCm39) |
I285V |
probably benign |
Het |
Or5w22 |
A |
G |
2: 87,363,028 (GRCm39) |
Y217C |
probably damaging |
Het |
Or6x1 |
T |
C |
9: 40,098,897 (GRCm39) |
V162A |
probably benign |
Het |
Pde3a |
T |
A |
6: 141,405,426 (GRCm39) |
L426* |
probably null |
Het |
Pkd1 |
T |
A |
17: 24,797,089 (GRCm39) |
D8E |
possibly damaging |
Het |
Polr3a |
A |
T |
14: 24,517,108 (GRCm39) |
Y714* |
probably null |
Het |
Pramel16 |
T |
C |
4: 143,675,717 (GRCm39) |
T370A |
probably damaging |
Het |
Prb1c |
A |
T |
6: 132,338,371 (GRCm39) |
F282L |
unknown |
Het |
Rasgrf1 |
T |
C |
9: 89,863,702 (GRCm39) |
V556A |
possibly damaging |
Het |
Rev3l |
T |
C |
10: 39,703,941 (GRCm39) |
Y1996H |
possibly damaging |
Het |
Rttn |
T |
C |
18: 89,071,697 (GRCm39) |
L1248P |
probably damaging |
Het |
Slc11a1 |
T |
C |
1: 74,416,332 (GRCm39) |
L53P |
probably damaging |
Het |
Slc22a27 |
T |
C |
19: 7,903,886 (GRCm39) |
R84G |
probably damaging |
Het |
Sptbn4 |
A |
G |
7: 27,097,392 (GRCm39) |
L1302P |
probably damaging |
Het |
Srm |
T |
C |
4: 148,678,586 (GRCm39) |
V271A |
possibly damaging |
Het |
Sycp2 |
A |
G |
2: 178,022,655 (GRCm39) |
I492T |
probably benign |
Het |
Tmprss13 |
A |
G |
9: 45,256,301 (GRCm39) |
T472A |
probably damaging |
Het |
Togaram1 |
A |
G |
12: 65,013,484 (GRCm39) |
D245G |
probably damaging |
Het |
Vmn1r184 |
A |
T |
7: 25,967,075 (GRCm39) |
I274L |
probably benign |
Het |
Vmn1r21 |
T |
C |
6: 57,820,974 (GRCm39) |
M157V |
probably benign |
Het |
Wdr90 |
C |
A |
17: 26,067,649 (GRCm39) |
E1420* |
probably null |
Het |
Zfp518a |
A |
T |
19: 40,903,462 (GRCm39) |
R1130S |
probably benign |
Het |
|
Other mutations in Chsy1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01087:Chsy1
|
APN |
7 |
65,821,874 (GRCm39) |
missense |
possibly damaging |
0.70 |
IGL01734:Chsy1
|
APN |
7 |
65,821,058 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02037:Chsy1
|
APN |
7 |
65,821,576 (GRCm39) |
missense |
possibly damaging |
0.69 |
IGL02797:Chsy1
|
APN |
7 |
65,821,412 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03290:Chsy1
|
APN |
7 |
65,820,779 (GRCm39) |
missense |
probably benign |
0.15 |
IGL03292:Chsy1
|
APN |
7 |
65,775,120 (GRCm39) |
missense |
probably benign |
0.02 |
Chrysanthemum
|
UTSW |
7 |
65,759,977 (GRCm39) |
critical splice donor site |
probably null |
|
coesite
|
UTSW |
7 |
65,775,211 (GRCm39) |
missense |
probably damaging |
1.00 |
deprimido
|
UTSW |
7 |
65,821,435 (GRCm39) |
missense |
probably damaging |
1.00 |
Elevado
|
UTSW |
7 |
65,759,824 (GRCm39) |
nonsense |
probably null |
|
R0669:Chsy1
|
UTSW |
7 |
65,821,435 (GRCm39) |
missense |
probably damaging |
1.00 |
R1336:Chsy1
|
UTSW |
7 |
65,774,987 (GRCm39) |
splice site |
probably null |
|
R1499:Chsy1
|
UTSW |
7 |
65,821,750 (GRCm39) |
missense |
probably damaging |
1.00 |
R1640:Chsy1
|
UTSW |
7 |
65,821,262 (GRCm39) |
missense |
probably benign |
0.34 |
R1674:Chsy1
|
UTSW |
7 |
65,821,411 (GRCm39) |
missense |
probably damaging |
1.00 |
R1812:Chsy1
|
UTSW |
7 |
65,821,565 (GRCm39) |
missense |
probably benign |
0.12 |
R1934:Chsy1
|
UTSW |
7 |
65,821,991 (GRCm39) |
missense |
probably damaging |
1.00 |
R2964:Chsy1
|
UTSW |
7 |
65,821,912 (GRCm39) |
missense |
probably damaging |
1.00 |
R2965:Chsy1
|
UTSW |
7 |
65,821,912 (GRCm39) |
missense |
probably damaging |
1.00 |
R2966:Chsy1
|
UTSW |
7 |
65,821,912 (GRCm39) |
missense |
probably damaging |
1.00 |
R3692:Chsy1
|
UTSW |
7 |
65,821,001 (GRCm39) |
missense |
probably damaging |
1.00 |
R4890:Chsy1
|
UTSW |
7 |
65,759,974 (GRCm39) |
missense |
probably benign |
0.00 |
R5373:Chsy1
|
UTSW |
7 |
65,759,824 (GRCm39) |
nonsense |
probably null |
|
R5936:Chsy1
|
UTSW |
7 |
65,822,025 (GRCm39) |
missense |
possibly damaging |
0.89 |
R6149:Chsy1
|
UTSW |
7 |
65,775,133 (GRCm39) |
missense |
probably damaging |
1.00 |
R6192:Chsy1
|
UTSW |
7 |
65,820,625 (GRCm39) |
missense |
probably benign |
0.29 |
R6653:Chsy1
|
UTSW |
7 |
65,759,941 (GRCm39) |
missense |
probably benign |
0.10 |
R6848:Chsy1
|
UTSW |
7 |
65,820,785 (GRCm39) |
missense |
probably damaging |
1.00 |
R7318:Chsy1
|
UTSW |
7 |
65,759,977 (GRCm39) |
critical splice donor site |
probably null |
|
R7514:Chsy1
|
UTSW |
7 |
65,821,868 (GRCm39) |
missense |
probably damaging |
1.00 |
R7560:Chsy1
|
UTSW |
7 |
65,821,319 (GRCm39) |
missense |
probably damaging |
1.00 |
R7560:Chsy1
|
UTSW |
7 |
65,820,992 (GRCm39) |
missense |
possibly damaging |
0.85 |
R7655:Chsy1
|
UTSW |
7 |
65,820,778 (GRCm39) |
missense |
probably damaging |
0.98 |
R7656:Chsy1
|
UTSW |
7 |
65,820,778 (GRCm39) |
missense |
probably damaging |
0.98 |
R8410:Chsy1
|
UTSW |
7 |
65,775,211 (GRCm39) |
missense |
probably damaging |
1.00 |
R8478:Chsy1
|
UTSW |
7 |
65,820,748 (GRCm39) |
missense |
probably benign |
|
R8720:Chsy1
|
UTSW |
7 |
65,821,088 (GRCm39) |
missense |
possibly damaging |
0.67 |
R9368:Chsy1
|
UTSW |
7 |
65,821,499 (GRCm39) |
missense |
probably damaging |
0.99 |
R9457:Chsy1
|
UTSW |
7 |
65,822,148 (GRCm39) |
missense |
probably benign |
|
X0012:Chsy1
|
UTSW |
7 |
65,821,916 (GRCm39) |
missense |
probably damaging |
1.00 |
X0063:Chsy1
|
UTSW |
7 |
65,821,672 (GRCm39) |
missense |
probably benign |
0.05 |
Z1176:Chsy1
|
UTSW |
7 |
65,821,974 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-12-18 |