Incidental Mutation 'R7647:Chil3'
ID |
590580 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Chil3
|
Ensembl Gene |
ENSMUSG00000040809 |
Gene Name |
chitinase-like 3 |
Synonyms |
Ym1, Chi3l3 |
MMRRC Submission |
045725-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.489)
|
Stock # |
R7647 (G1)
|
Quality Score |
179.009 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
106054870-106074852 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 106056122 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Serine
at position 344
(L344S)
|
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 |
possibly damaging
Transcript: ENSMUST00000063062
AA Change: L344S
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000053923 Gene: ENSMUSG00000040809 AA Change: L344S
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
Glyco_18
|
22 |
365 |
5.17e-134 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000149836
|
SMART Domains |
Protein: ENSMUSP00000121823 Gene: ENSMUSG00000040809
Domain | Start | End | E-Value | Type |
Blast:Glyco_18
|
2 |
37 |
1e-10 |
BLAST |
SCOP:d1goia2
|
2 |
44 |
2e-6 |
SMART |
PDB:1VF8|A
|
2 |
58 |
3e-28 |
PDB |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
100% (43/43) |
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5730507C01Rik |
C |
A |
12: 18,564,803 (GRCm39) |
T22K |
possibly damaging |
Het |
Abca7 |
G |
T |
10: 79,836,656 (GRCm39) |
M344I |
probably benign |
Het |
Alg14 |
T |
C |
3: 121,155,334 (GRCm39) |
S185P |
probably damaging |
Het |
Atg13 |
A |
T |
2: 91,519,006 (GRCm39) |
H146Q |
possibly damaging |
Het |
Atmin |
T |
G |
8: 117,684,661 (GRCm39) |
F774V |
possibly damaging |
Het |
Ccdc150 |
A |
G |
1: 54,395,863 (GRCm39) |
D782G |
probably damaging |
Het |
Ccdc86 |
A |
G |
19: 10,926,363 (GRCm39) |
S79P |
unknown |
Het |
Cd180 |
A |
T |
13: 102,842,451 (GRCm39) |
E499V |
probably damaging |
Het |
Cd24a |
C |
T |
10: 43,458,747 (GRCm39) |
H73Y |
unknown |
Het |
Cdh17 |
C |
T |
4: 11,814,698 (GRCm39) |
P751L |
probably damaging |
Het |
Cspp1 |
A |
G |
1: 10,206,162 (GRCm39) |
D1129G |
probably benign |
Het |
Cyth1 |
C |
A |
11: 118,068,114 (GRCm39) |
V288L |
probably benign |
Het |
Ddx19a |
A |
T |
8: 111,703,259 (GRCm39) |
|
probably null |
Het |
Dpysl4 |
T |
A |
7: 138,679,689 (GRCm39) |
Y520N |
possibly damaging |
Het |
Eif4b |
T |
A |
15: 101,997,129 (GRCm39) |
M249K |
unknown |
Het |
Enam |
G |
A |
5: 88,650,884 (GRCm39) |
D798N |
probably benign |
Het |
Fcgbpl1 |
A |
G |
7: 27,839,470 (GRCm39) |
K428E |
probably benign |
Het |
Gldc |
A |
G |
19: 30,096,067 (GRCm39) |
V648A |
probably damaging |
Het |
Gm7995 |
A |
G |
14: 42,133,308 (GRCm39) |
I62V |
possibly damaging |
Het |
Ice1 |
A |
G |
13: 70,737,916 (GRCm39) |
V2177A |
possibly damaging |
Het |
Kdm5a |
T |
A |
6: 120,404,747 (GRCm39) |
S1330T |
probably benign |
Het |
Mon2 |
G |
T |
10: 122,841,931 (GRCm39) |
P1553Q |
probably benign |
Het |
Mylk |
G |
C |
16: 34,699,894 (GRCm39) |
S419T |
probably benign |
Het |
Nphs1 |
T |
A |
7: 30,181,390 (GRCm39) |
|
probably null |
Het |
Nsd1 |
A |
G |
13: 55,447,648 (GRCm39) |
T1924A |
probably damaging |
Het |
Obscn |
T |
A |
11: 58,888,113 (GRCm39) |
|
probably null |
Het |
Or11l3 |
A |
T |
11: 58,516,029 (GRCm39) |
V281D |
probably damaging |
Het |
Or52h9 |
T |
C |
7: 104,202,893 (GRCm39) |
F256L |
probably benign |
Het |
Or6c213 |
A |
T |
10: 129,574,070 (GRCm39) |
C239S |
probably damaging |
Het |
Or6c6 |
T |
C |
10: 129,187,326 (GRCm39) |
V298A |
probably benign |
Het |
Pcsk1 |
A |
G |
13: 75,280,329 (GRCm39) |
D718G |
possibly damaging |
Het |
Pitrm1 |
A |
T |
13: 6,605,444 (GRCm39) |
N158I |
probably damaging |
Het |
Pkd1l1 |
C |
T |
11: 8,897,296 (GRCm39) |
V538M |
|
Het |
Prkdc |
G |
T |
16: 15,555,807 (GRCm39) |
G2194C |
probably damaging |
Het |
Psmc5 |
T |
C |
11: 106,152,433 (GRCm39) |
M150T |
possibly damaging |
Het |
Rint1 |
T |
C |
5: 24,005,800 (GRCm39) |
Y161H |
probably damaging |
Het |
Sdk2 |
T |
C |
11: 113,684,563 (GRCm39) |
K1966R |
probably damaging |
Het |
Sgcb |
A |
T |
5: 73,796,720 (GRCm39) |
|
probably null |
Het |
Slc4a7 |
G |
A |
14: 14,773,348 (GRCm38) |
E773K |
probably benign |
Het |
Sp100 |
A |
G |
1: 85,619,764 (GRCm39) |
K353E |
possibly damaging |
Het |
Ssh1 |
T |
C |
5: 114,081,019 (GRCm39) |
T804A |
probably benign |
Het |
Vipr1 |
T |
C |
9: 121,482,905 (GRCm39) |
L40P |
possibly damaging |
Het |
Vmn1r7 |
A |
G |
6: 57,002,255 (GRCm39) |
S2P |
probably benign |
Het |
Vwa8 |
T |
C |
14: 79,172,669 (GRCm39) |
S304P |
probably damaging |
Het |
Zbed4 |
T |
C |
15: 88,665,924 (GRCm39) |
M664T |
probably damaging |
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 |
IGL02538:Chil3
|
APN |
3 |
106,071,445 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GAGGGAAATGTCTCTGGTGAC -3'
(R):5'- CTGTTTACTCTAAGACAAGAAAGGCTC -3'
Sequencing Primer
(F):5'- TGACAGAAAGAACCACTGAAGTC -3'
(R):5'- CTCTAAGACAAGAAAGGCTCTTTAG -3'
|
Posted On |
2019-10-24 |