Incidental Mutation 'IGL03292:Chsy1'
ID |
415928 |
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 # |
IGL03292
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
65759263-65823546 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 65775120 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 150
(M150L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000047487
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036372]
|
AlphaFold |
Q6ZQ11 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000036372
AA Change: M150L
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000047487 Gene: ENSMUSG00000032640 AA Change: M150L
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205601
|
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: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1a |
G |
A |
5: 8,765,827 (GRCm39) |
C713Y |
possibly damaging |
Het |
Arhgap45 |
A |
G |
10: 79,856,803 (GRCm39) |
N205S |
probably benign |
Het |
Arhgef5 |
T |
G |
6: 43,257,180 (GRCm39) |
F1244V |
probably damaging |
Het |
Bbs2 |
A |
G |
8: 94,801,749 (GRCm39) |
|
probably null |
Het |
Dync1h1 |
T |
A |
12: 110,632,989 (GRCm39) |
|
probably null |
Het |
Efhc1 |
T |
C |
1: 21,030,496 (GRCm39) |
I143T |
possibly damaging |
Het |
Elf4 |
A |
C |
X: 47,503,583 (GRCm39) |
F642C |
probably damaging |
Het |
Fgfr1 |
A |
G |
8: 26,047,771 (GRCm39) |
D128G |
possibly damaging |
Het |
Fras1 |
T |
A |
5: 96,855,350 (GRCm39) |
I1953N |
probably damaging |
Het |
Frmpd4 |
A |
T |
X: 166,260,586 (GRCm39) |
I1052K |
probably benign |
Het |
Ift52 |
T |
A |
2: 162,865,320 (GRCm39) |
I57N |
probably damaging |
Het |
Lilrb4a |
G |
A |
10: 51,370,942 (GRCm39) |
|
probably null |
Het |
Mob3a |
A |
T |
10: 80,526,920 (GRCm39) |
I135N |
probably benign |
Het |
Pcdhb16 |
T |
A |
18: 37,613,437 (GRCm39) |
I799N |
probably damaging |
Het |
Rad52 |
T |
C |
6: 119,895,934 (GRCm39) |
L265P |
possibly damaging |
Het |
Sorbs1 |
T |
A |
19: 40,362,009 (GRCm39) |
Q155L |
possibly damaging |
Het |
Taok1 |
A |
T |
11: 77,430,962 (GRCm39) |
M821K |
probably benign |
Het |
Tars1 |
T |
A |
15: 11,384,107 (GRCm39) |
E720V |
probably benign |
Het |
Tec |
T |
C |
5: 72,914,707 (GRCm39) |
E603G |
probably null |
Het |
Timp1 |
A |
G |
X: 20,739,057 (GRCm39) |
T56A |
probably benign |
Het |
Txnrd2 |
C |
A |
16: 18,296,479 (GRCm39) |
H511Q |
possibly damaging |
Het |
Ubr4 |
A |
T |
4: 139,167,746 (GRCm39) |
D2743V |
probably damaging |
Het |
Vmn1r211 |
C |
T |
13: 23,036,613 (GRCm39) |
G18D |
probably damaging |
Het |
Zfhx4 |
C |
T |
3: 5,476,840 (GRCm39) |
Q3127* |
probably null |
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 |
IGL02961:Chsy1
|
APN |
7 |
65,821,530 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03290:Chsy1
|
APN |
7 |
65,820,779 (GRCm39) |
missense |
probably benign |
0.15 |
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 |
2016-08-02 |