Incidental Mutation 'IGL02797:Chsy1'
| ID |
359992 |
| 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 # |
IGL02797
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
65759263-65823546 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 65821412 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 549
(F549S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047487
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036372]
|
| AlphaFold |
Q6ZQ11 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036372
AA Change: F549S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000047487
Gene: ENSMUSG00000032640
AA Change: F549S
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
A |
G |
16: 20,187,214 (GRCm39) |
M924T |
probably benign |
Het |
| Afg2a |
A |
G |
3: 37,512,465 (GRCm39) |
|
probably benign |
Het |
| B3gat2 |
A |
G |
1: 23,854,360 (GRCm39) |
Y218C |
probably damaging |
Het |
| Bcs1l |
T |
C |
1: 74,629,620 (GRCm39) |
|
probably null |
Het |
| Cd109 |
T |
A |
9: 78,568,995 (GRCm39) |
I358N |
probably damaging |
Het |
| Cd276 |
T |
C |
9: 58,444,719 (GRCm39) |
D84G |
possibly damaging |
Het |
| Clca3a2 |
T |
C |
3: 144,787,024 (GRCm39) |
N549S |
probably benign |
Het |
| Cma1 |
A |
G |
14: 56,181,271 (GRCm39) |
S32P |
possibly damaging |
Het |
| Col23a1 |
G |
A |
11: 51,452,743 (GRCm39) |
|
probably null |
Het |
| Ctps1 |
A |
T |
4: 120,420,021 (GRCm39) |
I131K |
probably benign |
Het |
| Cyp2w1 |
T |
C |
5: 139,342,628 (GRCm39) |
L441P |
probably damaging |
Het |
| Dnajc21 |
A |
G |
15: 10,461,441 (GRCm39) |
Y170H |
probably damaging |
Het |
| Eif3a |
A |
T |
19: 60,761,164 (GRCm39) |
L648Q |
probably damaging |
Het |
| Eif3l |
T |
A |
15: 78,959,477 (GRCm39) |
D6E |
probably benign |
Het |
| Fam228a |
A |
T |
12: 4,781,484 (GRCm39) |
L125Q |
probably damaging |
Het |
| Foxa2 |
A |
G |
2: 147,886,045 (GRCm39) |
C263R |
possibly damaging |
Het |
| Gm17455 |
A |
G |
10: 60,239,107 (GRCm39) |
E124G |
possibly damaging |
Het |
| Gpc6 |
T |
G |
14: 117,163,394 (GRCm39) |
L16R |
probably damaging |
Het |
| Hdac9 |
A |
G |
12: 34,443,273 (GRCm39) |
|
probably benign |
Het |
| Herc3 |
A |
G |
6: 58,845,679 (GRCm39) |
N400S |
probably benign |
Het |
| Herc4 |
G |
A |
10: 63,152,586 (GRCm39) |
|
probably null |
Het |
| Il12b |
A |
G |
11: 44,301,180 (GRCm39) |
|
probably null |
Het |
| Lama4 |
A |
G |
10: 38,932,920 (GRCm39) |
R599G |
probably null |
Het |
| Lrp1b |
T |
A |
2: 41,561,069 (GRCm39) |
E286V |
|
Het |
| Mink1 |
C |
T |
11: 70,501,176 (GRCm39) |
P784S |
probably damaging |
Het |
| Musk |
T |
C |
4: 58,366,921 (GRCm39) |
F513S |
probably benign |
Het |
| Nfasc |
T |
A |
1: 132,538,186 (GRCm39) |
D474V |
probably damaging |
Het |
| Nhsl3 |
C |
T |
4: 129,117,104 (GRCm39) |
R565H |
probably damaging |
Het |
| Nos2 |
T |
G |
11: 78,831,170 (GRCm39) |
F420V |
probably damaging |
Het |
| Or52ab2 |
A |
T |
7: 102,970,058 (GRCm39) |
I147L |
probably benign |
Het |
| Pcdhb14 |
A |
G |
18: 37,582,904 (GRCm39) |
Y670C |
probably damaging |
Het |
| Polr1b |
A |
G |
2: 128,944,899 (GRCm39) |
E65G |
probably damaging |
Het |
| Ppp1r10 |
T |
G |
17: 36,238,904 (GRCm39) |
|
probably null |
Het |
| Prag1 |
C |
T |
8: 36,606,655 (GRCm39) |
R799C |
probably damaging |
Het |
| Prb1c |
T |
A |
6: 132,340,008 (GRCm39) |
|
probably null |
Het |
| Ptch1 |
T |
C |
13: 63,681,421 (GRCm39) |
N485S |
probably benign |
Het |
| Rgsl1 |
T |
C |
1: 153,683,454 (GRCm39) |
T19A |
probably damaging |
Het |
| Sgpl1 |
A |
C |
10: 60,937,507 (GRCm39) |
S507A |
probably benign |
Het |
| Sgpp2 |
A |
G |
1: 78,393,819 (GRCm39) |
D274G |
probably benign |
Het |
| Skap1 |
A |
G |
11: 96,603,843 (GRCm39) |
D211G |
possibly damaging |
Het |
| Smc3 |
A |
G |
19: 53,627,189 (GRCm39) |
T830A |
probably benign |
Het |
| Smpd2 |
G |
A |
10: 41,364,074 (GRCm39) |
T215I |
possibly damaging |
Het |
| Sntg2 |
T |
G |
12: 30,276,891 (GRCm39) |
Y387S |
possibly damaging |
Het |
| Sorl1 |
T |
G |
9: 41,948,355 (GRCm39) |
D810A |
probably damaging |
Het |
| Spop |
T |
A |
11: 95,372,909 (GRCm39) |
I217N |
probably damaging |
Het |
| Stac2 |
T |
C |
11: 97,934,345 (GRCm39) |
R120G |
possibly damaging |
Het |
| Stau1 |
A |
T |
2: 166,791,266 (GRCm39) |
*496R |
probably null |
Het |
| Tmeff2 |
C |
T |
1: 50,967,206 (GRCm39) |
R34C |
probably damaging |
Het |
| Treml2 |
C |
T |
17: 48,609,739 (GRCm39) |
A57V |
possibly damaging |
Het |
| Vmn2r15 |
T |
C |
5: 109,445,250 (GRCm39) |
D58G |
probably benign |
Het |
| Vmn2r7 |
T |
C |
3: 64,598,666 (GRCm39) |
I721M |
possibly damaging |
Het |
| Vmn2r70 |
C |
A |
7: 85,208,295 (GRCm39) |
M727I |
probably benign |
Het |
| Vwa8 |
T |
A |
14: 79,162,702 (GRCm39) |
C161S |
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 |
|
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 |
|
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 |
Incidental Mutation