Incidental Mutation 'IGL01968:Chodl'
| ID |
181587 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Chodl
|
| Ensembl Gene |
ENSMUSG00000022860 |
| Gene Name |
chondrolectin |
| Synonyms |
MT75, PRED12, 3110074E07Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01968
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
78727836-78748621 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 78738557 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 138
(S138T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156041
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023568]
[ENSMUST00000069148]
[ENSMUST00000114216]
[ENSMUST00000232415]
|
| AlphaFold |
Q9CXM0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023568
AA Change: S138T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000023568
Gene: ENSMUSG00000022860
AA Change: S138T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
CLECT
|
31 |
179 |
4.07e-25 |
SMART |
|
transmembrane domain
|
218 |
240 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000069148
AA Change: S138T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000063961
Gene: ENSMUSG00000022860
AA Change: S138T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
CLECT
|
31 |
179 |
4.07e-25 |
SMART |
|
transmembrane domain
|
218 |
240 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114216
AA Change: S138T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000109854
Gene: ENSMUSG00000022860
AA Change: S138T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
CLECT
|
31 |
179 |
4.07e-25 |
SMART |
|
transmembrane domain
|
218 |
240 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231883
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000232415
AA Change: S138T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| 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 type I membrane protein with a carbohydrate recognition domain characteristic of C-type lectins in its extracellular portion. In other proteins, this domain is involved in endocytosis of glycoproteins and exogenous sugar-bearing pathogens. This protein localizes predominantly to the perinuclear region. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
A |
G |
5: 8,977,913 (GRCm39) |
D497G |
probably benign |
Het |
| Adgra2 |
A |
T |
8: 27,611,263 (GRCm39) |
R856* |
probably null |
Het |
| Cfap90 |
T |
G |
13: 68,759,363 (GRCm39) |
H112Q |
probably damaging |
Het |
| Dnah8 |
C |
T |
17: 30,875,572 (GRCm39) |
R465* |
probably null |
Het |
| Fgfr2 |
A |
G |
7: 129,786,978 (GRCm39) |
W358R |
probably damaging |
Het |
| Iqgap2 |
G |
T |
13: 95,772,090 (GRCm39) |
A1363E |
possibly damaging |
Het |
| Malt1 |
T |
A |
18: 65,582,087 (GRCm39) |
I317K |
probably benign |
Het |
| Mrps5 |
A |
G |
2: 127,433,827 (GRCm39) |
N72S |
probably null |
Het |
| Mst1r |
T |
A |
9: 107,794,005 (GRCm39) |
|
probably null |
Het |
| Nars1 |
A |
T |
18: 64,640,929 (GRCm39) |
C176S |
probably damaging |
Het |
| Nt5el |
T |
A |
13: 105,256,338 (GRCm39) |
M469K |
probably damaging |
Het |
| Or4l1 |
A |
T |
14: 50,166,555 (GRCm39) |
W149R |
probably damaging |
Het |
| Plxna4 |
T |
G |
6: 32,192,139 (GRCm39) |
D817A |
possibly damaging |
Het |
| Plxnb1 |
C |
T |
9: 108,930,052 (GRCm39) |
P303S |
probably benign |
Het |
| Prkd2 |
G |
T |
7: 16,603,501 (GRCm39) |
|
probably null |
Het |
| Sulf1 |
A |
T |
1: 12,888,675 (GRCm39) |
H320L |
probably damaging |
Het |
| Use1 |
G |
A |
8: 71,819,711 (GRCm39) |
|
probably benign |
Het |
| Vmn2r6 |
T |
C |
3: 64,463,766 (GRCm39) |
D356G |
possibly damaging |
Het |
|
| Other mutations in Chodl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01105:Chodl
|
APN |
16 |
78,738,151 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01632:Chodl
|
APN |
16 |
78,741,452 (GRCm39) |
intron |
probably benign |
|
|
IGL03095:Chodl
|
APN |
16 |
78,738,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0125:Chodl
|
UTSW |
16 |
78,738,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1852:Chodl
|
UTSW |
16 |
78,738,146 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1938:Chodl
|
UTSW |
16 |
78,738,314 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R2109:Chodl
|
UTSW |
16 |
78,738,251 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R4362:Chodl
|
UTSW |
16 |
78,741,546 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4502:Chodl
|
UTSW |
16 |
78,728,332 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5299:Chodl
|
UTSW |
16 |
78,738,296 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5386:Chodl
|
UTSW |
16 |
78,743,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5677:Chodl
|
UTSW |
16 |
78,738,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6959:Chodl
|
UTSW |
16 |
78,743,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7138:Chodl
|
UTSW |
16 |
78,738,335 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7147:Chodl
|
UTSW |
16 |
78,743,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8065:Chodl
|
UTSW |
16 |
78,743,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8067:Chodl
|
UTSW |
16 |
78,743,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8193:Chodl
|
UTSW |
16 |
78,738,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8924:Chodl
|
UTSW |
16 |
78,738,659 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R9329:Chodl
|
UTSW |
16 |
78,746,030 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
X0067:Chodl
|
UTSW |
16 |
78,728,261 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
YA93:Chodl
|
UTSW |
16 |
78,738,170 (GRCm39) |
missense |
probably benign |
0.11 |
|
Z1177:Chodl
|
UTSW |
16 |
78,738,351 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
| Posted On |
2014-05-07 |
Incidental Mutation