Incidental Mutation 'R8065:Chodl'
| ID |
619968 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chodl
|
| Ensembl Gene |
ENSMUSG00000022860 |
| Gene Name |
chondrolectin |
| Synonyms |
MT75, PRED12, 3110074E07Rik |
| MMRRC Submission |
067501-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8065 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
78727836-78748621 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 78743601 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 229
(L229F)
|
| 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: L229F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000023568
Gene: ENSMUSG00000022860
AA Change: L229F
| 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: L229F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000063961
Gene: ENSMUSG00000022860
AA Change: L229F
| 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: L229F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000109854
Gene: ENSMUSG00000022860
AA Change: L229F
| 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: ENSMUST00000232415
AA Change: L224F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.2125 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (47/47) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cap2 |
T |
C |
13: 46,791,337 (GRCm39) |
V280A |
probably damaging |
Het |
| Cbx7 |
A |
T |
15: 79,818,099 (GRCm39) |
V1D |
unknown |
Het |
| Depdc5 |
C |
A |
5: 33,053,252 (GRCm39) |
N197K |
possibly damaging |
Het |
| Diaph3 |
A |
T |
14: 87,274,931 (GRCm39) |
L175Q |
probably damaging |
Het |
| Dlat |
A |
T |
9: 50,569,149 (GRCm39) |
M218K |
possibly damaging |
Het |
| Dnai1 |
T |
A |
4: 41,614,258 (GRCm39) |
D311E |
probably damaging |
Het |
| Dpp10 |
A |
G |
1: 123,280,389 (GRCm39) |
S646P |
probably benign |
Het |
| Ebf1 |
G |
A |
11: 44,511,374 (GRCm39) |
V90M |
probably benign |
Het |
| Efhd1 |
C |
T |
1: 87,192,313 (GRCm39) |
P48S |
probably benign |
Het |
| Fbxl16 |
G |
A |
17: 26,036,957 (GRCm39) |
V313I |
probably damaging |
Het |
| Flrt2 |
A |
G |
12: 95,747,548 (GRCm39) |
T629A |
probably benign |
Het |
| Gpr87 |
T |
A |
3: 59,087,308 (GRCm39) |
I66F |
probably damaging |
Het |
| Hmmr |
G |
A |
11: 40,612,499 (GRCm39) |
S206F |
probably damaging |
Het |
| Hsd17b4 |
A |
T |
18: 50,303,819 (GRCm39) |
I431F |
possibly damaging |
Het |
| Iba57 |
T |
C |
11: 59,054,086 (GRCm39) |
|
probably benign |
Het |
| Ibtk |
A |
C |
9: 85,602,916 (GRCm39) |
S696R |
probably benign |
Het |
| Igkv11-125 |
C |
A |
6: 67,890,814 (GRCm39) |
T44N |
probably benign |
Het |
| Itih2 |
T |
A |
2: 10,128,294 (GRCm39) |
I136F |
probably damaging |
Het |
| Itpr3 |
T |
A |
17: 27,329,836 (GRCm39) |
D1543E |
probably benign |
Het |
| Ldlr |
T |
A |
9: 21,649,241 (GRCm39) |
C339S |
probably damaging |
Het |
| Myh2 |
G |
A |
11: 67,072,170 (GRCm39) |
E633K |
probably null |
Het |
| Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
| Mylk |
A |
T |
16: 34,792,389 (GRCm39) |
E1570V |
probably benign |
Het |
| Myo15b |
G |
A |
11: 115,778,769 (GRCm39) |
|
probably null |
Het |
| N4bp2 |
T |
A |
5: 65,964,639 (GRCm39) |
L896H |
probably damaging |
Het |
| Naip2 |
A |
T |
13: 100,325,730 (GRCm39) |
S59R |
probably damaging |
Het |
| Ndc1 |
T |
A |
4: 107,247,595 (GRCm39) |
S468T |
probably benign |
Het |
| Ndst3 |
T |
C |
3: 123,395,094 (GRCm39) |
N512S |
probably damaging |
Het |
| Or51b6 |
A |
G |
7: 103,555,610 (GRCm39) |
|
probably benign |
Het |
| Or5w15 |
T |
A |
2: 87,568,147 (GRCm39) |
I174F |
probably damaging |
Het |
| Plekhn1 |
T |
C |
4: 156,312,697 (GRCm39) |
I54V |
possibly damaging |
Het |
| Polr3c |
T |
C |
3: 96,622,968 (GRCm39) |
E350G |
probably null |
Het |
| Pskh1 |
T |
G |
8: 106,656,487 (GRCm39) |
S388A |
possibly damaging |
Het |
| Pum1 |
T |
C |
4: 130,478,836 (GRCm39) |
V486A |
possibly damaging |
Het |
| Rin2 |
T |
G |
2: 145,702,977 (GRCm39) |
S558A |
probably damaging |
Het |
| Ripk4 |
A |
T |
16: 97,564,737 (GRCm39) |
V58D |
probably damaging |
Het |
| Slc17a3 |
A |
G |
13: 24,042,070 (GRCm39) |
R491G |
unknown |
Het |
| Smyd3 |
A |
G |
1: 179,238,028 (GRCm39) |
M113T |
possibly damaging |
Het |
| Ssh2 |
A |
G |
11: 77,332,811 (GRCm39) |
R431G |
probably damaging |
Het |
| Timm22 |
G |
A |
11: 76,304,931 (GRCm39) |
D190N |
probably damaging |
Het |
| Ube2g1 |
G |
A |
11: 72,568,591 (GRCm39) |
G103D |
probably benign |
Het |
| Zbtb5 |
A |
T |
4: 44,994,972 (GRCm39) |
S137R |
probably benign |
Het |
| Zfp105 |
A |
G |
9: 122,754,194 (GRCm39) |
T8A |
probably benign |
Het |
| Zfp286 |
A |
T |
11: 62,644,345 (GRCm39) |
I192K |
unknown |
Het |
| Zfp942 |
T |
C |
17: 22,149,391 (GRCm39) |
Y38C |
probably damaging |
Het |
| Zfpm1 |
T |
C |
8: 123,062,323 (GRCm39) |
S461P |
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 |
|
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 |
|
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'- GGGCTGTTTTCAAAGCATCC -3'
(R):5'- ATGCTGGAATTTTACTGACAGC -3'
Sequencing Primer
(F):5'- AACCTTGTATTGGGGTCC -3'
(R):5'- CCTTTAATTATCTGGACAGCAAT -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation