Incidental Mutation 'IGL03290:Chsy1'
| ID |
415869 |
| 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 # |
IGL03290
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
65759263-65823546 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 65820779 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 338
(V338A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047487
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036372]
|
| AlphaFold |
Q6ZQ11 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036372
AA Change: V338A
PolyPhen 2
Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000047487
Gene: ENSMUSG00000032640
AA Change: V338A
| 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 |
|---|
| Acsm4 |
A |
G |
7: 119,302,646 (GRCm39) |
|
probably benign |
Het |
| Asb18 |
A |
G |
1: 89,942,296 (GRCm39) |
S2P |
probably damaging |
Het |
| Atp2b2 |
A |
G |
6: 113,770,715 (GRCm39) |
F398S |
probably damaging |
Het |
| BC034090 |
T |
G |
1: 155,101,856 (GRCm39) |
D136A |
probably damaging |
Het |
| Ces5a |
A |
C |
8: 94,246,260 (GRCm39) |
F310V |
probably damaging |
Het |
| Dbh |
A |
G |
2: 27,064,944 (GRCm39) |
E385G |
probably damaging |
Het |
| Dnah14 |
T |
A |
1: 181,591,543 (GRCm39) |
|
probably benign |
Het |
| F2rl1 |
A |
G |
13: 95,650,097 (GRCm39) |
S262P |
possibly damaging |
Het |
| Fat2 |
T |
C |
11: 55,147,045 (GRCm39) |
N3984D |
probably benign |
Het |
| Fbxo38 |
A |
T |
18: 62,659,234 (GRCm39) |
H354Q |
probably benign |
Het |
| Fgf6 |
T |
A |
6: 127,001,095 (GRCm39) |
V201D |
probably damaging |
Het |
| Gm16181 |
A |
T |
17: 35,442,933 (GRCm39) |
|
probably benign |
Het |
| Gm6811 |
T |
C |
17: 21,314,311 (GRCm39) |
|
noncoding transcript |
Het |
| Gna11 |
A |
G |
10: 81,366,771 (GRCm39) |
F313S |
probably damaging |
Het |
| Gprc6a |
C |
T |
10: 51,491,968 (GRCm39) |
A523T |
probably damaging |
Het |
| Il22 |
T |
C |
10: 118,041,785 (GRCm39) |
|
probably null |
Het |
| Insr |
T |
C |
8: 3,308,574 (GRCm39) |
Y154C |
probably damaging |
Het |
| Irak4 |
T |
A |
15: 94,449,780 (GRCm39) |
D86E |
probably benign |
Het |
| Itk |
C |
A |
11: 46,225,764 (GRCm39) |
W529L |
probably damaging |
Het |
| Klhl6 |
C |
A |
16: 19,765,887 (GRCm39) |
A572S |
probably benign |
Het |
| Ldhc |
C |
T |
7: 46,519,112 (GRCm39) |
R112C |
probably damaging |
Het |
| Lrrc56 |
T |
C |
7: 140,779,685 (GRCm39) |
|
probably benign |
Het |
| Mdh2 |
A |
G |
5: 135,818,567 (GRCm39) |
E274G |
probably damaging |
Het |
| N4bp1 |
G |
T |
8: 87,575,161 (GRCm39) |
D711E |
probably benign |
Het |
| Ngly1 |
T |
A |
14: 16,281,866 (GRCm38) |
I248K |
probably damaging |
Het |
| Or2ab1 |
A |
G |
11: 58,489,149 (GRCm39) |
N309S |
probably damaging |
Het |
| Or7e176 |
T |
C |
9: 20,171,556 (GRCm39) |
I140T |
probably damaging |
Het |
| Pbrm1 |
A |
G |
14: 30,829,241 (GRCm39) |
E1421G |
probably damaging |
Het |
| Pcca |
G |
A |
14: 122,822,518 (GRCm39) |
R112H |
possibly damaging |
Het |
| Pgrmc2 |
T |
C |
3: 41,023,061 (GRCm39) |
|
probably benign |
Het |
| Podnl1 |
G |
A |
8: 84,858,818 (GRCm39) |
V548I |
probably benign |
Het |
| Pogz |
A |
T |
3: 94,782,402 (GRCm39) |
|
probably benign |
Het |
| Ppp1r3a |
A |
G |
6: 14,754,771 (GRCm39) |
Y159H |
probably damaging |
Het |
| Rax |
T |
C |
18: 66,071,231 (GRCm39) |
K135E |
probably damaging |
Het |
| Rbm7 |
T |
A |
9: 48,401,267 (GRCm39) |
M154L |
probably benign |
Het |
| Rp1 |
A |
G |
1: 4,420,264 (GRCm39) |
S283P |
probably damaging |
Het |
| Rpusd4 |
T |
C |
9: 35,179,273 (GRCm39) |
S30P |
probably benign |
Het |
| Samd13 |
T |
C |
3: 146,352,070 (GRCm39) |
T75A |
probably benign |
Het |
| Sfxn4 |
A |
G |
19: 60,848,508 (GRCm39) |
W22R |
probably damaging |
Het |
| Sh3pxd2a |
T |
A |
19: 47,412,955 (GRCm39) |
R43W |
probably damaging |
Het |
| Smc5 |
A |
G |
19: 23,251,022 (GRCm39) |
V54A |
probably benign |
Het |
| Snap47 |
A |
G |
11: 59,319,424 (GRCm39) |
I238T |
probably damaging |
Het |
| Tecpr2 |
T |
G |
12: 110,934,267 (GRCm39) |
I1309S |
possibly damaging |
Het |
| Trappc8 |
A |
G |
18: 20,953,992 (GRCm39) |
L1310P |
probably damaging |
Het |
| Vmn2r61 |
T |
A |
7: 41,915,408 (GRCm39) |
H118Q |
probably benign |
Het |
| Zbtb17 |
C |
T |
4: 141,194,244 (GRCm39) |
T731I |
probably damaging |
Het |
| Zfp287 |
A |
G |
11: 62,606,062 (GRCm39) |
F282L |
probably damaging |
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 |
|
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 |
2016-08-02 |
Incidental Mutation