Incidental Mutation 'IGL03095:Chodl'
ID |
418523 |
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 # |
IGL03095
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
78727836-78748621 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 78738321 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 96
(D96E)
|
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: D96E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000023568 Gene: ENSMUSG00000022860 AA Change: D96E
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: D96E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000063961 Gene: ENSMUSG00000022860 AA Change: D96E
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: D96E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000109854 Gene: ENSMUSG00000022860 AA Change: D96E
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: D96E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Bche |
A |
G |
3: 73,609,216 (GRCm39) |
L70P |
probably damaging |
Het |
Cacna1h |
C |
A |
17: 25,602,752 (GRCm39) |
|
probably benign |
Het |
Ccdc60 |
A |
T |
5: 116,284,274 (GRCm39) |
|
probably benign |
Het |
Cep152 |
T |
C |
2: 125,460,371 (GRCm39) |
N194D |
probably benign |
Het |
Clca3b |
C |
A |
3: 144,552,671 (GRCm39) |
G122* |
probably null |
Het |
Crybg1 |
T |
C |
10: 43,865,245 (GRCm39) |
I1411V |
probably damaging |
Het |
Dock9 |
A |
C |
14: 121,876,940 (GRCm39) |
V477G |
probably damaging |
Het |
Fam149a |
T |
A |
8: 45,794,265 (GRCm39) |
E632D |
probably damaging |
Het |
Gabra4 |
A |
G |
5: 71,781,358 (GRCm39) |
V351A |
probably damaging |
Het |
Gen1 |
T |
A |
12: 11,298,265 (GRCm39) |
I319L |
probably benign |
Het |
Gne |
C |
A |
4: 44,055,211 (GRCm39) |
D255Y |
probably damaging |
Het |
Gpr146 |
A |
G |
5: 139,378,705 (GRCm39) |
H169R |
probably benign |
Het |
Htatip2 |
A |
G |
7: 49,409,522 (GRCm39) |
E92G |
probably benign |
Het |
Ipcef1 |
A |
G |
10: 6,869,732 (GRCm39) |
S223P |
probably damaging |
Het |
Kcnmb2 |
T |
A |
3: 32,252,276 (GRCm39) |
*37R |
probably null |
Het |
Lin54 |
A |
T |
5: 100,602,337 (GRCm39) |
V400E |
probably damaging |
Het |
Ltbp1 |
C |
A |
17: 75,589,413 (GRCm39) |
Q511K |
possibly damaging |
Het |
Lyg1 |
A |
G |
1: 37,989,849 (GRCm39) |
|
probably benign |
Het |
Nampt |
T |
A |
12: 32,892,685 (GRCm39) |
V324D |
possibly damaging |
Het |
Nat8b-ps |
T |
G |
6: 85,909,950 (GRCm39) |
|
probably benign |
Het |
Neb |
G |
A |
2: 52,059,100 (GRCm39) |
H213Y |
probably damaging |
Het |
Nfkb1 |
T |
C |
3: 135,324,591 (GRCm39) |
E179G |
possibly damaging |
Het |
Nlrc5 |
T |
A |
8: 95,248,536 (GRCm39) |
|
probably benign |
Het |
Or12d2 |
T |
A |
17: 37,624,664 (GRCm39) |
I204F |
probably benign |
Het |
Or8k38 |
A |
T |
2: 86,488,775 (GRCm39) |
L9Q |
possibly damaging |
Het |
Pcdh15 |
G |
A |
10: 74,191,706 (GRCm39) |
V601M |
probably damaging |
Het |
Pigc |
G |
A |
1: 161,798,345 (GRCm39) |
R109Q |
possibly damaging |
Het |
Plxna2 |
A |
G |
1: 194,483,435 (GRCm39) |
N1582S |
probably damaging |
Het |
Pros1 |
C |
T |
16: 62,728,132 (GRCm39) |
Q279* |
probably null |
Het |
Psmb5 |
A |
G |
14: 54,854,014 (GRCm39) |
S155P |
probably damaging |
Het |
Rock2 |
T |
A |
12: 17,003,341 (GRCm39) |
D393E |
probably benign |
Het |
Slc25a21 |
T |
C |
12: 56,785,410 (GRCm39) |
T156A |
probably benign |
Het |
Slc44a1 |
T |
A |
4: 53,536,374 (GRCm39) |
Y183* |
probably null |
Het |
Sytl2 |
C |
T |
7: 90,041,642 (GRCm39) |
P580L |
probably damaging |
Het |
Tktl2 |
G |
T |
8: 66,964,936 (GRCm39) |
V165F |
probably damaging |
Het |
Trim55 |
A |
G |
3: 19,728,629 (GRCm39) |
E480G |
probably benign |
Het |
Vmn2r92 |
T |
A |
17: 18,386,972 (GRCm39) |
S104T |
possibly damaging |
Het |
Vps51 |
C |
T |
19: 6,120,078 (GRCm39) |
R490H |
probably damaging |
Het |
Wdr43 |
G |
A |
17: 71,948,282 (GRCm39) |
V391I |
probably benign |
Het |
Zranb1 |
T |
G |
7: 132,551,635 (GRCm39) |
Y121* |
probably null |
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 |
|
IGL01968:Chodl
|
APN |
16 |
78,738,557 (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 |
2016-08-02 |