Incidental Mutation 'R4543:Chil3'
| ID |
392056 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chil3
|
| Ensembl Gene |
ENSMUSG00000040809 |
| Gene Name |
chitinase-like 3 |
| Synonyms |
Ym1, Chi3l3 |
| MMRRC Submission |
041778-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.489)
|
| Stock # |
R4543 (G1)
|
| Quality Score |
146 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
106054870-106074852 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 106067686 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamine
at position 160
(K160Q)
|
| 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 benign
Transcript: ENSMUST00000063062
AA Change: K160Q
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000053923
Gene: ENSMUSG00000040809
AA Change: K160Q
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
94% (44/47) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1bg |
A |
T |
15: 60,789,749 (GRCm39) |
S500T |
probably damaging |
Het |
| Abhd3 |
T |
C |
18: 10,706,672 (GRCm39) |
D2G |
possibly damaging |
Het |
| Ablim1 |
C |
T |
19: 57,065,874 (GRCm39) |
R366H |
possibly damaging |
Het |
| Adgre1 |
T |
A |
17: 57,713,874 (GRCm39) |
H186Q |
probably benign |
Het |
| Ankmy1 |
G |
T |
1: 92,812,572 (GRCm39) |
A579E |
probably damaging |
Het |
| Ap2b1 |
C |
A |
11: 83,215,476 (GRCm39) |
T140K |
probably damaging |
Het |
| Arhgef28 |
T |
A |
13: 98,211,508 (GRCm39) |
E158D |
probably benign |
Het |
| Atp8b4 |
A |
G |
2: 126,199,986 (GRCm39) |
F885L |
probably damaging |
Het |
| Barx2 |
A |
G |
9: 31,758,092 (GRCm39) |
L282S |
unknown |
Het |
| Catsper2 |
C |
T |
2: 121,237,890 (GRCm39) |
W163* |
probably null |
Het |
| Cep295 |
T |
C |
9: 15,246,549 (GRCm39) |
T588A |
possibly damaging |
Het |
| Clca3a1 |
T |
A |
3: 144,452,749 (GRCm39) |
Q578L |
probably damaging |
Het |
| Crp |
A |
C |
1: 172,526,304 (GRCm39) |
I130L |
probably benign |
Het |
| Dtwd2 |
C |
A |
18: 49,857,175 (GRCm39) |
|
probably null |
Het |
| Fads3 |
T |
C |
19: 10,019,175 (GRCm39) |
F27S |
possibly damaging |
Het |
| Gm3604 |
T |
C |
13: 62,517,970 (GRCm39) |
D109G |
probably benign |
Het |
| Gtf2ird1 |
A |
G |
5: 134,392,754 (GRCm39) |
|
probably null |
Het |
| H2-K2 |
C |
T |
17: 34,218,532 (GRCm39) |
|
probably null |
Het |
| Hdac5 |
T |
C |
11: 102,104,770 (GRCm39) |
|
probably benign |
Het |
| Il6st |
G |
A |
13: 112,617,993 (GRCm39) |
V136M |
probably damaging |
Het |
| Immt |
T |
C |
6: 71,828,762 (GRCm39) |
S106P |
probably damaging |
Het |
| Kat2b |
T |
C |
17: 53,960,168 (GRCm39) |
I492T |
probably benign |
Het |
| Kcnn2 |
T |
C |
18: 45,692,715 (GRCm39) |
F97S |
probably benign |
Het |
| Kdm4c |
A |
G |
4: 74,248,997 (GRCm39) |
I84V |
probably benign |
Het |
| Kif7 |
G |
A |
7: 79,357,296 (GRCm39) |
P637S |
probably benign |
Het |
| Lrrcc1 |
T |
A |
3: 14,604,851 (GRCm39) |
I109K |
probably damaging |
Het |
| Med12l |
T |
A |
3: 58,998,929 (GRCm39) |
C619S |
probably damaging |
Het |
| Mgat4f |
T |
A |
1: 134,317,531 (GRCm39) |
M101K |
probably benign |
Het |
| Or8g51 |
A |
G |
9: 38,608,841 (GRCm39) |
S274P |
possibly damaging |
Het |
| Polq |
T |
C |
16: 36,881,147 (GRCm39) |
C1104R |
probably benign |
Het |
| Rbfox2 |
A |
T |
15: 77,190,568 (GRCm39) |
M59K |
probably benign |
Het |
| Rft1 |
T |
C |
14: 30,383,290 (GRCm39) |
V110A |
probably benign |
Het |
| Rsf1 |
GCGGCGGCG |
GCGGCGGCGTCGGCGGCG |
7: 97,229,129 (GRCm39) |
|
probably benign |
Het |
| Slc2a12 |
T |
A |
10: 22,540,685 (GRCm39) |
V180D |
probably damaging |
Het |
| Sox21 |
CCAGCGGCGGCGGCGGCAGCGGCGGCGGCGGCAGCGGC |
CCAGCGGCGGCGGCGGCAGCGGC |
14: 118,472,548 (GRCm39) |
|
probably benign |
Het |
| Stap2 |
C |
T |
17: 56,304,604 (GRCm39) |
|
probably null |
Het |
| Tenm4 |
A |
G |
7: 96,545,022 (GRCm39) |
N2375S |
probably benign |
Het |
| Tmem132c |
A |
G |
5: 127,582,041 (GRCm39) |
T419A |
probably benign |
Het |
| Tmprss11a |
G |
A |
5: 86,559,668 (GRCm39) |
Q375* |
probably null |
Het |
| Trav12-3 |
CTCTG |
CTCTGTCTG |
14: 53,859,693 (GRCm39) |
|
probably null |
Het |
| Vmn1r88 |
T |
A |
7: 12,911,907 (GRCm39) |
S88T |
possibly damaging |
Het |
| Zfp622 |
T |
A |
15: 25,991,623 (GRCm39) |
D143E |
possibly 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 |
|
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'- ATGCACTGTGGTTCTAACACAG -3'
(R):5'- AGGTGTCCATGTCATAGAAGTC -3'
Sequencing Primer
(F):5'- GCACTGTGGTTCTAACACAGCATAG -3'
(R):5'- GTGTCCATGTCATAGAAGTCTAACAC -3'
|
| Posted On |
2016-06-09 |
Incidental Mutation