Incidental Mutation 'IGL02538:Chil3'
| ID |
297577 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Chil3
|
| Ensembl Gene |
ENSMUSG00000040809 |
| Gene Name |
chitinase-like 3 |
| Synonyms |
Ym1, Chi3l3 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.489)
|
| Stock # |
IGL02538
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
106054870-106074852 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 106071445 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 73
(D73G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000053923
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063062]
|
| AlphaFold |
O35744 |
| PDB Structure |
THE CRYSTAL STRUCTURE OF NOVEL MAMMALIAN LECTIN YM1 SUGGESTS A SACCHARIDE BINDING SITE [X-RAY DIFFRACTION]
The Crystal Structure of Ym1 at 1.31 A Resolution [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000063062
AA Change: D73G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000053923
Gene: ENSMUSG00000040809
AA Change: D73G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Glyco_18
|
22 |
365 |
5.17e-134 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129563
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: The protein encoded by this gene is similar to bacterial chitinases but lacks chitinase activity. The encoded protein is thought to function as a lectin and may be involved in inflammation and allergy. [provided by RefSeq, Sep 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
T |
A |
2: 69,136,949 (GRCm39) |
I171L |
possibly damaging |
Het |
| Amdhd1 |
C |
T |
10: 93,363,108 (GRCm39) |
V327I |
probably damaging |
Het |
| Ankrd1 |
T |
C |
19: 36,092,456 (GRCm39) |
H257R |
probably damaging |
Het |
| Ano5 |
G |
A |
7: 51,233,523 (GRCm39) |
R595H |
probably damaging |
Het |
| Atg2a |
A |
G |
19: 6,307,658 (GRCm39) |
T1531A |
probably benign |
Het |
| Bsn |
A |
G |
9: 107,982,435 (GRCm39) |
S1001P |
unknown |
Het |
| Btn1a1 |
T |
C |
13: 23,643,385 (GRCm39) |
T355A |
possibly damaging |
Het |
| Cd22 |
G |
T |
7: 30,576,985 (GRCm39) |
N107K |
probably benign |
Het |
| Ceacam10 |
A |
G |
7: 24,477,908 (GRCm39) |
H141R |
probably damaging |
Het |
| Cit |
C |
T |
5: 116,125,048 (GRCm39) |
Q1536* |
probably null |
Het |
| Dmgdh |
T |
A |
13: 93,845,261 (GRCm39) |
I418K |
possibly damaging |
Het |
| Efcab6 |
T |
A |
15: 83,938,722 (GRCm39) |
|
probably benign |
Het |
| Eif4g2 |
T |
C |
7: 110,678,523 (GRCm39) |
I110V |
probably benign |
Het |
| Fam217a |
T |
C |
13: 35,095,096 (GRCm39) |
Y221C |
probably damaging |
Het |
| Fezf1 |
T |
A |
6: 23,246,557 (GRCm39) |
K342N |
probably damaging |
Het |
| Git2 |
A |
T |
5: 114,869,047 (GRCm39) |
|
probably benign |
Het |
| Gm8126 |
A |
T |
14: 43,117,047 (GRCm39) |
R63W |
probably benign |
Het |
| Ica1l |
T |
C |
1: 60,049,345 (GRCm39) |
K203E |
probably benign |
Het |
| Iigp1c |
A |
T |
18: 60,378,944 (GRCm39) |
K160* |
probably null |
Het |
| Inpp5d |
A |
G |
1: 87,623,088 (GRCm39) |
M393V |
probably null |
Het |
| Kbtbd11 |
A |
G |
8: 15,078,841 (GRCm39) |
D480G |
probably damaging |
Het |
| Klhl1 |
T |
C |
14: 96,477,649 (GRCm39) |
N473S |
probably benign |
Het |
| Krt1c |
A |
G |
15: 101,719,589 (GRCm39) |
S694P |
unknown |
Het |
| Lhfpl6 |
C |
T |
3: 52,950,732 (GRCm39) |
A2V |
probably benign |
Het |
| Lipk |
T |
A |
19: 34,024,279 (GRCm39) |
L354Q |
probably damaging |
Het |
| Luzp2 |
T |
A |
7: 54,861,546 (GRCm39) |
L225* |
probably null |
Het |
| Mknk1 |
C |
T |
4: 115,717,288 (GRCm39) |
Q58* |
probably null |
Het |
| Mmut |
A |
T |
17: 41,249,510 (GRCm39) |
I162F |
probably damaging |
Het |
| Nol11 |
T |
A |
11: 107,064,199 (GRCm39) |
M518L |
probably benign |
Het |
| Nubpl |
T |
C |
12: 52,357,477 (GRCm39) |
|
probably benign |
Het |
| Nup35 |
T |
A |
2: 80,474,563 (GRCm39) |
S93R |
possibly damaging |
Het |
| Or2t48 |
T |
C |
11: 58,420,816 (GRCm39) |
|
probably benign |
Het |
| Or5ak22 |
T |
A |
2: 85,230,647 (GRCm39) |
I77F |
probably damaging |
Het |
| Pex3 |
T |
C |
10: 13,411,344 (GRCm39) |
E178G |
possibly damaging |
Het |
| Rad23b |
C |
A |
4: 55,370,457 (GRCm39) |
P161Q |
possibly damaging |
Het |
| Sipa1l2 |
A |
G |
8: 126,178,716 (GRCm39) |
S1128P |
probably damaging |
Het |
| Terb2 |
T |
C |
2: 122,035,289 (GRCm39) |
|
probably benign |
Het |
| Trim72 |
A |
G |
7: 127,603,942 (GRCm39) |
Y96C |
probably damaging |
Het |
| Tyk2 |
T |
C |
9: 21,022,339 (GRCm39) |
D830G |
possibly damaging |
Het |
| Uri1 |
A |
G |
7: 37,664,916 (GRCm39) |
S259P |
probably benign |
Het |
| Usp38 |
A |
T |
8: 81,712,187 (GRCm39) |
L616H |
probably damaging |
Het |
| Uspl1 |
T |
A |
5: 149,125,269 (GRCm39) |
C73S |
probably damaging |
Het |
| Wdr7 |
C |
A |
18: 63,929,306 (GRCm39) |
D1047E |
probably benign |
Het |
|
| Other mutations in Chil3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00332:Chil3
|
APN |
3 |
106,056,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01552:Chil3
|
APN |
3 |
106,056,164 (GRCm39) |
missense |
probably damaging |
0.98 |
|
PIT4382001:Chil3
|
UTSW |
3 |
106,055,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0145:Chil3
|
UTSW |
3 |
106,067,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0269:Chil3
|
UTSW |
3 |
106,063,072 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0310:Chil3
|
UTSW |
3 |
106,067,839 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R0453:Chil3
|
UTSW |
3 |
106,056,221 (GRCm39) |
missense |
probably benign |
0.26 |
|
R0541:Chil3
|
UTSW |
3 |
106,068,548 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0617:Chil3
|
UTSW |
3 |
106,063,072 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0831:Chil3
|
UTSW |
3 |
106,057,063 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1699:Chil3
|
UTSW |
3 |
106,067,682 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1851:Chil3
|
UTSW |
3 |
106,056,117 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1852:Chil3
|
UTSW |
3 |
106,056,117 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2105:Chil3
|
UTSW |
3 |
106,067,794 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R2202:Chil3
|
UTSW |
3 |
106,071,562 (GRCm39) |
missense |
probably benign |
0.11 |
|
R2204:Chil3
|
UTSW |
3 |
106,071,562 (GRCm39) |
missense |
probably benign |
0.11 |
|
R2205:Chil3
|
UTSW |
3 |
106,071,562 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4358:Chil3
|
UTSW |
3 |
106,067,815 (GRCm39) |
nonsense |
probably null |
|
|
R4492:Chil3
|
UTSW |
3 |
106,063,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4543:Chil3
|
UTSW |
3 |
106,067,686 (GRCm39) |
missense |
probably benign |
|
|
R4554:Chil3
|
UTSW |
3 |
106,067,686 (GRCm39) |
missense |
probably benign |
|
|
R4930:Chil3
|
UTSW |
3 |
106,071,524 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5011:Chil3
|
UTSW |
3 |
106,057,477 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5083:Chil3
|
UTSW |
3 |
106,071,405 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5231:Chil3
|
UTSW |
3 |
106,063,045 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5423:Chil3
|
UTSW |
3 |
106,055,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6804:Chil3
|
UTSW |
3 |
106,071,495 (GRCm39) |
nonsense |
probably null |
|
|
R6859:Chil3
|
UTSW |
3 |
106,067,730 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7218:Chil3
|
UTSW |
3 |
106,067,853 (GRCm39) |
splice site |
probably null |
|
|
R7391:Chil3
|
UTSW |
3 |
106,071,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7426:Chil3
|
UTSW |
3 |
106,063,022 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7582:Chil3
|
UTSW |
3 |
106,071,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7620:Chil3
|
UTSW |
3 |
106,067,751 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7647:Chil3
|
UTSW |
3 |
106,056,122 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7749:Chil3
|
UTSW |
3 |
106,056,161 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7944:Chil3
|
UTSW |
3 |
106,057,464 (GRCm39) |
nonsense |
probably null |
|
|
R8099:Chil3
|
UTSW |
3 |
106,055,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8181:Chil3
|
UTSW |
3 |
106,057,203 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8859:Chil3
|
UTSW |
3 |
106,071,440 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9011:Chil3
|
UTSW |
3 |
106,057,031 (GRCm39) |
nonsense |
probably null |
|
|
R9193:Chil3
|
UTSW |
3 |
106,063,081 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9352:Chil3
|
UTSW |
3 |
106,067,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9607:Chil3
|
UTSW |
3 |
106,067,685 (GRCm39) |
missense |
probably null |
0.01 |
|
| Posted On |
2015-04-16 |
Incidental Mutation