Incidental Mutation 'R6859:Chil3'
| ID |
537793 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chil3
|
| Ensembl Gene |
ENSMUSG00000040809 |
| Gene Name |
chitinase-like 3 |
| Synonyms |
Ym1, Chi3l3 |
| MMRRC Submission |
044961-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.489)
|
| Stock # |
R6859 (G1)
|
| Quality Score |
195.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
106054870-106074852 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 106067730 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 145
(R145L)
|
| 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: R145L
PolyPhen 2
Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000053923
Gene: ENSMUSG00000040809
AA Change: R145L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Glyco_18
|
22 |
365 |
5.17e-134 |
SMART |
|
| Meta Mutation Damage Score |
0.4676 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
100% (42/42) |
| 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 |
|---|
| 4930562C15Rik |
T |
C |
16: 4,669,799 (GRCm39) |
V788A |
possibly damaging |
Het |
| Abca15 |
A |
T |
7: 120,002,217 (GRCm39) |
K1577* |
probably null |
Het |
| Arhgap12 |
T |
C |
18: 6,111,803 (GRCm39) |
E187G |
probably damaging |
Het |
| Arhgef10 |
T |
A |
8: 15,025,005 (GRCm39) |
Y398N |
probably damaging |
Het |
| Baz2b |
C |
T |
2: 59,731,874 (GRCm39) |
V2055I |
probably benign |
Het |
| Btnl4 |
T |
C |
17: 34,688,353 (GRCm39) |
D475G |
probably damaging |
Het |
| C1qtnf12 |
T |
A |
4: 156,050,070 (GRCm39) |
F190Y |
probably damaging |
Het |
| Cacul1 |
A |
G |
19: 60,522,683 (GRCm39) |
S284P |
probably damaging |
Het |
| Ccdc166 |
C |
A |
15: 75,853,820 (GRCm39) |
V87L |
possibly damaging |
Het |
| Ceacam13 |
C |
T |
7: 17,747,032 (GRCm39) |
P162S |
probably damaging |
Het |
| Cep250 |
T |
A |
2: 155,834,446 (GRCm39) |
S2124T |
probably benign |
Het |
| Chd5 |
T |
C |
4: 152,462,664 (GRCm39) |
S1372P |
probably damaging |
Het |
| Cyp4f40 |
T |
C |
17: 32,894,923 (GRCm39) |
S454P |
probably benign |
Het |
| Defa3 |
T |
A |
8: 21,778,213 (GRCm39) |
C66S |
probably damaging |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Glmp |
C |
A |
3: 88,235,349 (GRCm39) |
N260K |
probably benign |
Het |
| Gsap |
T |
A |
5: 21,486,016 (GRCm39) |
L653Q |
probably damaging |
Het |
| Il18rap |
T |
A |
1: 40,564,255 (GRCm39) |
Y124* |
probably null |
Het |
| Lao1 |
A |
C |
4: 118,820,948 (GRCm39) |
K58T |
probably damaging |
Het |
| Lepr |
T |
A |
4: 101,622,487 (GRCm39) |
|
probably null |
Het |
| Mrgpra3 |
G |
C |
7: 47,239,781 (GRCm39) |
I48M |
probably benign |
Het |
| Nck2 |
T |
G |
1: 43,593,511 (GRCm39) |
N239K |
probably benign |
Het |
| Optc |
A |
T |
1: 133,825,554 (GRCm39) |
V324E |
possibly damaging |
Het |
| Or12k7 |
A |
T |
2: 36,958,794 (GRCm39) |
Y159F |
probably damaging |
Het |
| Or4p8 |
A |
G |
2: 88,727,278 (GRCm39) |
I221T |
probably benign |
Het |
| Or51b6 |
G |
A |
7: 103,555,908 (GRCm39) |
W84* |
probably null |
Het |
| Otog |
T |
C |
7: 45,923,205 (GRCm39) |
S1027P |
probably damaging |
Het |
| Plbd2 |
A |
G |
5: 120,641,407 (GRCm39) |
F84L |
probably benign |
Het |
| Plxnb1 |
T |
C |
9: 108,935,838 (GRCm39) |
L110P |
probably damaging |
Het |
| Prnp |
T |
C |
2: 131,778,708 (GRCm39) |
V120A |
possibly damaging |
Het |
| Ptprh |
C |
A |
7: 4,552,370 (GRCm39) |
E965* |
probably null |
Het |
| Reln |
T |
C |
5: 22,239,568 (GRCm39) |
T900A |
probably damaging |
Het |
| Stt3a |
A |
G |
9: 36,646,682 (GRCm39) |
Y644H |
probably damaging |
Het |
| Sulf2 |
A |
G |
2: 165,929,039 (GRCm39) |
Y311H |
probably damaging |
Het |
| Tbc1d32 |
A |
T |
10: 56,056,626 (GRCm39) |
I438N |
probably damaging |
Het |
| Tbcd |
T |
C |
11: 121,387,937 (GRCm39) |
V356A |
possibly damaging |
Het |
| Tecta |
T |
C |
9: 42,303,425 (GRCm39) |
N69S |
probably damaging |
Het |
| Topaz1 |
T |
C |
9: 122,631,023 (GRCm39) |
V1618A |
probably benign |
Het |
| Usp48 |
C |
T |
4: 137,352,587 (GRCm39) |
T627I |
possibly damaging |
Het |
| Vcl |
T |
C |
14: 21,037,143 (GRCm39) |
V247A |
probably damaging |
Het |
| Vmn2r59 |
A |
G |
7: 41,693,277 (GRCm39) |
L441P |
probably damaging |
Het |
| Zfp869 |
C |
T |
8: 70,159,175 (GRCm39) |
G466D |
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 |
|
|
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'- ACTGTGGTTCTAACACAGCATAG -3'
(R):5'- GCCCAAGGTGTCCATGTCATAG -3'
Sequencing Primer
(F):5'- CAGCATAGAAAGTAATGTCTCACATG -3'
(R):5'- CCAAGGTGTCCATGTCATAGAAGTC -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation