Incidental Mutation 'IGL01087:Chsy1'
| ID |
51486 |
| 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 # |
IGL01087
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
65759263-65823546 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 65821874 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 703
(V703G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047487
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036372]
|
| AlphaFold |
Q6ZQ11 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000036372
AA Change: V703G
PolyPhen 2
Score 0.699 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000047487
Gene: ENSMUSG00000032640
AA Change: V703G
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003E16Rik |
A |
T |
6: 83,139,770 (GRCm39) |
|
probably null |
Het |
| Abca6 |
C |
A |
11: 110,082,476 (GRCm39) |
A1166S |
probably benign |
Het |
| Arhgdib |
C |
A |
6: 136,910,622 (GRCm39) |
K46N |
probably damaging |
Het |
| Ash1l |
T |
A |
3: 88,971,209 (GRCm39) |
V2507D |
probably damaging |
Het |
| B4galnt1 |
A |
T |
10: 127,002,060 (GRCm39) |
I63F |
probably damaging |
Het |
| Bclaf1 |
A |
G |
10: 20,201,056 (GRCm39) |
D394G |
probably damaging |
Het |
| Btbd10 |
T |
C |
7: 112,915,763 (GRCm39) |
D442G |
probably damaging |
Het |
| Cd44 |
A |
T |
2: 102,652,607 (GRCm39) |
L492H |
probably damaging |
Het |
| Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
| Clrn2 |
T |
C |
5: 45,621,311 (GRCm39) |
|
probably benign |
Het |
| Crtc3 |
T |
C |
7: 80,248,487 (GRCm39) |
|
probably benign |
Het |
| Cul1 |
A |
G |
6: 47,485,978 (GRCm39) |
T342A |
probably benign |
Het |
| Dgki |
T |
C |
6: 36,989,846 (GRCm39) |
D631G |
probably damaging |
Het |
| Eif3b |
T |
C |
5: 140,426,862 (GRCm39) |
I706T |
probably damaging |
Het |
| Fam120a |
A |
G |
13: 49,055,549 (GRCm39) |
L713P |
probably damaging |
Het |
| I830077J02Rik |
C |
A |
3: 105,836,049 (GRCm39) |
|
probably null |
Het |
| Jmjd8 |
A |
C |
17: 26,048,145 (GRCm39) |
|
probably benign |
Het |
| Kmt5a |
T |
C |
5: 124,589,443 (GRCm39) |
|
probably benign |
Het |
| Krt87 |
C |
A |
15: 101,329,706 (GRCm39) |
C486F |
probably benign |
Het |
| Lrp2 |
A |
T |
2: 69,354,417 (GRCm39) |
N470K |
probably damaging |
Het |
| Med1 |
C |
A |
11: 98,071,111 (GRCm39) |
D79Y |
probably damaging |
Het |
| Myo1d |
A |
G |
11: 80,573,261 (GRCm39) |
S189P |
probably damaging |
Het |
| Myo9a |
T |
A |
9: 59,697,361 (GRCm39) |
Y381N |
possibly damaging |
Het |
| Nipbl |
C |
A |
15: 8,379,981 (GRCm39) |
S937I |
possibly damaging |
Het |
| Nlrp4g |
A |
G |
9: 124,353,858 (GRCm38) |
|
noncoding transcript |
Het |
| Nutm2 |
A |
G |
13: 50,623,665 (GRCm39) |
T121A |
probably damaging |
Het |
| Opa1 |
C |
T |
16: 29,405,815 (GRCm39) |
P127S |
probably damaging |
Het |
| Or2h1b |
C |
T |
17: 37,462,332 (GRCm39) |
C177Y |
probably damaging |
Het |
| Pcdh15 |
A |
T |
10: 74,178,464 (GRCm39) |
I574F |
possibly damaging |
Het |
| Pcnx1 |
G |
A |
12: 82,042,113 (GRCm39) |
|
probably benign |
Het |
| Prex2 |
A |
G |
1: 11,138,328 (GRCm39) |
T136A |
probably benign |
Het |
| Prph2 |
A |
G |
17: 47,222,085 (GRCm39) |
T155A |
probably damaging |
Het |
| Rsl1d1 |
T |
C |
16: 11,012,539 (GRCm39) |
K296E |
possibly damaging |
Het |
| Syne1 |
A |
T |
10: 5,375,708 (GRCm39) |
I128N |
probably damaging |
Het |
| Tlk1 |
A |
T |
2: 70,582,660 (GRCm39) |
N156K |
possibly damaging |
Het |
| Trem2 |
C |
T |
17: 48,658,956 (GRCm39) |
T222I |
probably damaging |
Het |
| Trip12 |
A |
T |
1: 84,735,580 (GRCm39) |
F872L |
probably damaging |
Het |
| Trrap |
T |
A |
5: 144,783,349 (GRCm39) |
S3393T |
probably damaging |
Het |
| Vwa8 |
T |
A |
14: 79,172,669 (GRCm39) |
S304T |
probably benign |
Het |
| Zc3h7a |
T |
C |
16: 10,971,046 (GRCm39) |
T328A |
probably benign |
Het |
|
| Other mutations in Chsy1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2013-06-21 |
Incidental Mutation