Incidental Mutation 'R4492:Chil3'
ID |
330768 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Chil3
|
Ensembl Gene |
ENSMUSG00000040809 |
Gene Name |
chitinase-like 3 |
Synonyms |
Ym1, Chi3l3 |
MMRRC Submission |
041581-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.489)
|
Stock # |
R4492 (G1)
|
Quality Score |
138 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
106054870-106074852 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 106063017 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 191
(I191T)
|
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: I191T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000053923 Gene: ENSMUSG00000040809 AA Change: I191T
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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actr6 |
T |
G |
10: 89,561,676 (GRCm39) |
I157L |
probably benign |
Het |
Amph |
T |
C |
13: 19,333,928 (GRCm39) |
V663A |
possibly damaging |
Het |
Anapc16 |
A |
G |
10: 59,826,724 (GRCm39) |
S50P |
possibly damaging |
Het |
Ank3 |
T |
A |
10: 69,644,755 (GRCm39) |
V60D |
probably damaging |
Het |
Btbd9 |
A |
G |
17: 30,746,545 (GRCm39) |
Y94H |
probably damaging |
Het |
Clpb |
T |
C |
7: 101,436,929 (GRCm39) |
L668P |
probably damaging |
Het |
Cyp2d22 |
G |
A |
15: 82,258,571 (GRCm39) |
H97Y |
probably benign |
Het |
Dhrs7 |
A |
T |
12: 72,699,899 (GRCm39) |
N244K |
probably damaging |
Het |
Dusp4 |
C |
T |
8: 35,274,890 (GRCm39) |
T3M |
possibly damaging |
Het |
Edc4 |
GGATTTTAGCCA |
G |
8: 106,611,700 (GRCm39) |
|
probably null |
Het |
Etl4 |
G |
A |
2: 20,811,676 (GRCm39) |
S1621N |
possibly damaging |
Het |
Fam174a |
T |
C |
1: 95,241,701 (GRCm39) |
S54P |
probably benign |
Het |
Fdxacb1 |
T |
C |
9: 50,681,547 (GRCm39) |
F7S |
probably damaging |
Het |
Focad |
G |
A |
4: 88,278,142 (GRCm39) |
|
probably null |
Het |
Gpr156 |
T |
A |
16: 37,812,468 (GRCm39) |
L268H |
probably damaging |
Het |
Gpr17 |
A |
T |
18: 32,080,304 (GRCm39) |
I253N |
possibly damaging |
Het |
H2-T23 |
A |
T |
17: 36,343,058 (GRCm39) |
N106K |
probably damaging |
Het |
Hspa4 |
T |
C |
11: 53,171,296 (GRCm39) |
R303G |
probably damaging |
Het |
Irgm1 |
G |
A |
11: 48,756,955 (GRCm39) |
|
silent |
Het |
Jph1 |
A |
C |
1: 17,067,770 (GRCm39) |
I114S |
probably damaging |
Het |
Kcna1 |
C |
T |
6: 126,619,238 (GRCm39) |
D361N |
possibly damaging |
Het |
Kcna4 |
G |
A |
2: 107,126,436 (GRCm39) |
R390Q |
probably damaging |
Het |
Lum |
C |
A |
10: 97,404,300 (GRCm39) |
P65H |
probably damaging |
Het |
Mc4r |
A |
G |
18: 66,992,711 (GRCm39) |
L134P |
probably benign |
Het |
Mroh8 |
A |
T |
2: 157,099,960 (GRCm39) |
I248N |
probably damaging |
Het |
Nos2 |
A |
G |
11: 78,840,921 (GRCm39) |
T677A |
probably benign |
Het |
Nup37 |
T |
A |
10: 88,010,791 (GRCm39) |
F257I |
possibly damaging |
Het |
Or13c3 |
T |
C |
4: 52,855,764 (GRCm39) |
I250V |
probably benign |
Het |
Or6k6 |
C |
T |
1: 173,944,770 (GRCm39) |
V271I |
probably benign |
Het |
Pdzd2 |
C |
T |
15: 12,385,723 (GRCm39) |
D1016N |
possibly damaging |
Het |
Pdzd2 |
A |
C |
15: 12,419,567 (GRCm39) |
M501R |
possibly damaging |
Het |
Pitx1 |
T |
C |
13: 55,976,465 (GRCm39) |
K65E |
probably benign |
Het |
Pla1a |
C |
T |
16: 38,229,972 (GRCm39) |
A247T |
probably benign |
Het |
Prex2 |
T |
A |
1: 11,232,487 (GRCm39) |
S851R |
probably benign |
Het |
Prss8 |
A |
G |
7: 127,528,979 (GRCm39) |
S26P |
probably damaging |
Het |
Rasef |
A |
C |
4: 73,652,740 (GRCm39) |
L587R |
probably damaging |
Het |
Rock2 |
T |
A |
12: 17,027,684 (GRCm39) |
C1334S |
probably damaging |
Het |
Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,130 (GRCm39) |
|
probably benign |
Het |
Serpina6 |
A |
G |
12: 103,613,146 (GRCm39) |
W385R |
probably damaging |
Het |
Slc12a5 |
T |
C |
2: 164,821,263 (GRCm39) |
M249T |
probably benign |
Het |
Srsf9 |
T |
A |
5: 115,470,651 (GRCm39) |
I117N |
probably damaging |
Het |
Taf1 |
G |
T |
X: 100,586,665 (GRCm39) |
M313I |
possibly damaging |
Het |
Tmem30a |
T |
C |
9: 79,684,567 (GRCm39) |
H95R |
probably damaging |
Het |
Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
Ttc21a |
T |
C |
9: 119,770,346 (GRCm39) |
V139A |
probably benign |
Het |
Zfp236 |
A |
T |
18: 82,648,125 (GRCm39) |
V1012D |
probably damaging |
Het |
Zfp612 |
C |
A |
8: 110,815,929 (GRCm39) |
Q379K |
probably damaging |
Het |
Zfp930 |
C |
T |
8: 69,680,898 (GRCm39) |
Q198* |
probably null |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACAAAGTTAGAATTCTATCTTAGGGCC -3'
(R):5'- TTGAACAGACATTGGAGTTCCTAAAAC -3'
Sequencing Primer
(F):5'- AGAATTCTATCTTAGGGCCATTTTCC -3'
(R):5'- CTTTTTGTAGGAAATGCGTA -3'
|
Posted On |
2015-07-21 |