Incidental Mutation 'IGL01734:Chsy1'
| ID |
105617 |
| 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 # |
IGL01734
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
65759263-65823546 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 65821058 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 431
(I431T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047487
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036372]
|
| AlphaFold |
Q6ZQ11 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036372
AA Change: I431T
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000047487
Gene: ENSMUSG00000032640
AA Change: I431T
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932442E05Rik |
T |
A |
10: 118,697,371 (GRCm39) |
W210R |
possibly damaging |
Het |
| Aknad1 |
T |
C |
3: 108,659,217 (GRCm39) |
M77T |
probably benign |
Het |
| Aox1 |
A |
T |
1: 58,393,469 (GRCm39) |
I1210F |
possibly damaging |
Het |
| Brd8 |
A |
T |
18: 34,747,858 (GRCm39) |
|
probably benign |
Het |
| Cdh23 |
T |
C |
10: 60,139,292 (GRCm39) |
D3307G |
probably benign |
Het |
| Cobl |
A |
G |
11: 12,204,980 (GRCm39) |
|
probably benign |
Het |
| Col28a1 |
T |
C |
6: 8,158,134 (GRCm39) |
D308G |
probably damaging |
Het |
| Csmd3 |
A |
G |
15: 48,048,700 (GRCm39) |
Y568H |
probably damaging |
Het |
| Dmrt3 |
T |
C |
19: 25,599,947 (GRCm39) |
I264T |
probably damaging |
Het |
| Dusp22 |
G |
T |
13: 30,880,235 (GRCm39) |
C52F |
probably damaging |
Het |
| Fbxw22 |
A |
C |
9: 109,212,993 (GRCm39) |
M318R |
probably damaging |
Het |
| Ffar4 |
C |
T |
19: 38,102,295 (GRCm39) |
T310M |
probably damaging |
Het |
| Fn1 |
A |
G |
1: 71,658,644 (GRCm39) |
V1138A |
probably damaging |
Het |
| Glt6d1 |
T |
A |
2: 25,684,505 (GRCm39) |
Y167F |
probably benign |
Het |
| Hydin |
T |
A |
8: 111,217,421 (GRCm39) |
Y1436* |
probably null |
Het |
| Il12a |
G |
A |
3: 68,598,888 (GRCm39) |
C2Y |
possibly damaging |
Het |
| Inpp5a |
T |
C |
7: 139,034,006 (GRCm39) |
Y38H |
possibly damaging |
Het |
| Jmy |
A |
C |
13: 93,596,159 (GRCm39) |
L490R |
probably damaging |
Het |
| Kif26a |
T |
A |
12: 112,143,262 (GRCm39) |
L1172H |
probably benign |
Het |
| Kmo |
A |
T |
1: 175,482,668 (GRCm39) |
M331L |
probably benign |
Het |
| Lonp1 |
G |
A |
17: 56,923,026 (GRCm39) |
T627M |
probably damaging |
Het |
| Lrrc41 |
T |
C |
4: 115,950,331 (GRCm39) |
|
probably null |
Het |
| Mast4 |
A |
T |
13: 102,874,123 (GRCm39) |
S1556R |
probably damaging |
Het |
| Mmel1 |
A |
G |
4: 154,976,408 (GRCm39) |
N490S |
probably benign |
Het |
| Mpped2 |
A |
G |
2: 106,614,158 (GRCm39) |
D164G |
probably damaging |
Het |
| Nap1l1 |
A |
G |
10: 111,328,760 (GRCm39) |
T230A |
probably benign |
Het |
| Nrap |
C |
A |
19: 56,338,741 (GRCm39) |
A913S |
probably damaging |
Het |
| Nudt16 |
G |
T |
9: 105,008,707 (GRCm39) |
Q65K |
probably benign |
Het |
| Or1e23 |
C |
A |
11: 73,407,462 (GRCm39) |
A188S |
probably benign |
Het |
| Or5ac17 |
T |
G |
16: 59,036,792 (GRCm39) |
L61F |
probably benign |
Het |
| Or5ac19 |
T |
A |
16: 59,089,213 (GRCm39) |
K272N |
probably benign |
Het |
| Or5al5 |
T |
A |
2: 85,962,012 (GRCm39) |
|
probably benign |
Het |
| Or6c76b |
T |
A |
10: 129,692,671 (GRCm39) |
C95S |
probably benign |
Het |
| Parp14 |
A |
G |
16: 35,678,970 (GRCm39) |
F333L |
probably benign |
Het |
| Pi4ka |
G |
T |
16: 17,115,124 (GRCm39) |
Q1422K |
probably benign |
Het |
| Polr3c |
T |
C |
3: 96,620,836 (GRCm39) |
E494G |
probably damaging |
Het |
| Prss42 |
C |
A |
9: 110,627,411 (GRCm39) |
P49Q |
probably benign |
Het |
| Ptpra |
C |
T |
2: 130,385,997 (GRCm39) |
T568I |
probably damaging |
Het |
| Ring1 |
T |
C |
17: 34,242,294 (GRCm39) |
D71G |
probably damaging |
Het |
| Siae |
T |
A |
9: 37,542,782 (GRCm39) |
S193T |
probably damaging |
Het |
| Slf2 |
T |
C |
19: 44,961,706 (GRCm39) |
|
probably null |
Het |
| Spinkl |
T |
A |
18: 44,307,639 (GRCm39) |
K7N |
possibly damaging |
Het |
| Tbk1 |
G |
A |
10: 121,407,888 (GRCm39) |
R82* |
probably null |
Het |
| Tcf12 |
T |
C |
9: 71,829,930 (GRCm39) |
|
probably null |
Het |
| Tcl1b5 |
G |
A |
12: 105,145,214 (GRCm39) |
M59I |
probably benign |
Het |
| Thumpd3 |
C |
A |
6: 113,043,806 (GRCm39) |
T407K |
probably damaging |
Het |
| Timm29 |
T |
C |
9: 21,505,031 (GRCm39) |
V233A |
probably damaging |
Het |
| Tns3 |
A |
G |
11: 8,469,192 (GRCm39) |
|
probably benign |
Het |
| Ubash3b |
T |
C |
9: 40,937,543 (GRCm39) |
|
probably benign |
Het |
| Ugdh |
G |
T |
5: 65,580,031 (GRCm39) |
T253K |
probably benign |
Het |
| Zfp143 |
T |
A |
7: 109,671,416 (GRCm39) |
|
probably benign |
Het |
| Zfp738 |
A |
G |
13: 67,831,563 (GRCm39) |
|
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 |
|
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 |
|
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 |
2014-01-21 |
Incidental Mutation