Incidental Mutation 'R5299:Chodl'
ID |
405588 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Chodl
|
Ensembl Gene |
ENSMUSG00000022860 |
Gene Name |
chondrolectin |
Synonyms |
MT75, PRED12, 3110074E07Rik |
MMRRC Submission |
042882-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5299 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
78727836-78748621 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 78738296 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 88
(T88I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000063961
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023568]
[ENSMUST00000069148]
[ENSMUST00000114216]
[ENSMUST00000232415]
|
AlphaFold |
Q9CXM0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000023568
AA Change: T88I
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000023568 Gene: ENSMUSG00000022860 AA Change: T88I
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: T88I
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000063961 Gene: ENSMUSG00000022860 AA Change: T88I
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: T88I
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000109854 Gene: ENSMUSG00000022860 AA Change: T88I
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: T88I
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.5%
|
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
G |
11: 9,381,861 (GRCm39) |
I3838V |
probably damaging |
Het |
Arid1a |
A |
T |
4: 133,414,537 (GRCm39) |
D1231E |
unknown |
Het |
Atxn1 |
A |
T |
13: 45,710,730 (GRCm39) |
I734K |
probably benign |
Het |
Axin1 |
A |
G |
17: 26,392,708 (GRCm39) |
S330G |
probably damaging |
Het |
Bend3 |
G |
A |
10: 43,369,686 (GRCm39) |
|
probably null |
Het |
Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
Dst |
A |
G |
1: 34,174,173 (GRCm39) |
I179M |
probably damaging |
Het |
Ehmt2 |
C |
T |
17: 35,118,067 (GRCm39) |
R40* |
probably null |
Het |
Exoc2 |
A |
T |
13: 31,055,901 (GRCm39) |
|
probably null |
Het |
Grk2 |
T |
C |
19: 4,342,799 (GRCm39) |
E45G |
probably damaging |
Het |
Ift81 |
T |
C |
5: 122,745,119 (GRCm39) |
Y144C |
probably damaging |
Het |
Ighv1-15 |
T |
C |
12: 114,620,998 (GRCm39) |
D109G |
probably damaging |
Het |
Igtp |
T |
C |
11: 58,097,959 (GRCm39) |
W377R |
possibly damaging |
Het |
Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
Map2k6 |
A |
G |
11: 110,383,789 (GRCm39) |
D145G |
probably benign |
Het |
Mcph1 |
T |
C |
8: 18,702,596 (GRCm39) |
|
probably benign |
Het |
Mdfi |
A |
G |
17: 48,131,759 (GRCm39) |
V95A |
possibly damaging |
Het |
Mical3 |
A |
G |
6: 120,936,473 (GRCm39) |
L1351P |
possibly damaging |
Het |
Nbas |
C |
T |
12: 13,491,926 (GRCm39) |
Q1506* |
probably null |
Het |
Nelfb |
A |
G |
2: 25,100,757 (GRCm39) |
V128A |
probably benign |
Het |
Otog |
A |
G |
7: 45,938,275 (GRCm39) |
T1995A |
probably benign |
Het |
Ppp1r7 |
A |
T |
1: 93,280,348 (GRCm39) |
I139L |
probably benign |
Het |
Ppp2r1b |
A |
G |
9: 50,768,340 (GRCm39) |
D19G |
probably benign |
Het |
Proca1 |
T |
C |
11: 78,096,078 (GRCm39) |
S150P |
probably damaging |
Het |
Rhof |
A |
G |
5: 123,258,611 (GRCm39) |
V100A |
probably damaging |
Het |
Rsbn1 |
G |
C |
3: 103,821,806 (GRCm39) |
G14R |
probably benign |
Het |
Serinc1 |
A |
G |
10: 57,399,147 (GRCm39) |
I252T |
probably damaging |
Het |
Skint4 |
A |
T |
4: 111,993,203 (GRCm39) |
I309F |
possibly damaging |
Het |
Slc12a3 |
A |
G |
8: 95,078,417 (GRCm39) |
Y815C |
probably damaging |
Het |
Slc25a24 |
A |
G |
3: 109,073,668 (GRCm39) |
S424G |
probably benign |
Het |
Spint2 |
G |
A |
7: 28,963,151 (GRCm39) |
A49V |
probably damaging |
Het |
Traf3ip3 |
T |
A |
1: 192,860,483 (GRCm39) |
K480* |
probably null |
Het |
Ube2g2 |
T |
C |
10: 77,480,379 (GRCm39) |
S162P |
possibly damaging |
Het |
Ubxn8 |
C |
A |
8: 34,131,947 (GRCm39) |
V7L |
possibly damaging |
Het |
Vmn1r200 |
T |
A |
13: 22,579,945 (GRCm39) |
C249* |
probably null |
Het |
Vmn1r38 |
T |
A |
6: 66,753,682 (GRCm39) |
T145S |
probably benign |
Het |
Wapl |
G |
A |
14: 34,455,765 (GRCm39) |
|
probably null |
Het |
Wfdc6a |
T |
C |
2: 164,422,311 (GRCm39) |
N96S |
possibly damaging |
Het |
Zfp503 |
A |
G |
14: 22,035,507 (GRCm39) |
S470P |
probably benign |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GAGACCTCACAATCAATTTGTCTG -3'
(R):5'- CCAGCAGGGTTCAAATTAACAC -3'
Sequencing Primer
(F):5'- AGGTCAAAAGGTGTGTTTTGC -3'
(R):5'- CAGCAGGGTTCAAATTAACACTTCGG -3'
|
Posted On |
2016-07-22 |