Incidental Mutation 'R7620:Chil3'
| ID |
589091 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chil3
|
| Ensembl Gene |
ENSMUSG00000040809 |
| Gene Name |
chitinase-like 3 |
| Synonyms |
Ym1, Chi3l3 |
| MMRRC Submission |
045687-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.489)
|
| Stock # |
R7620 (G1)
|
| Quality Score |
200.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
106054870-106074852 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 106067751 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 138
(D138V)
|
| 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: D138V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000053923
Gene: ENSMUSG00000040809
AA Change: D138V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Glyco_18
|
22 |
365 |
5.17e-134 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
98% (43/44) |
| 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 |
|---|
| Adnp2 |
T |
C |
18: 80,173,702 (GRCm39) |
T236A |
probably damaging |
Het |
| Alkbh7 |
A |
G |
17: 57,304,551 (GRCm39) |
Y63C |
probably damaging |
Het |
| Calhm6 |
A |
T |
10: 34,003,614 (GRCm39) |
C98S |
probably damaging |
Het |
| Ccr9 |
T |
A |
9: 123,608,911 (GRCm39) |
C198S |
probably damaging |
Het |
| Cntd1 |
A |
T |
11: 101,174,240 (GRCm39) |
E66D |
probably benign |
Het |
| Cpz |
A |
T |
5: 35,669,194 (GRCm39) |
N312K |
possibly damaging |
Het |
| Crat |
A |
G |
2: 30,298,090 (GRCm39) |
I203T |
probably damaging |
Het |
| Cyp2j13 |
T |
A |
4: 95,944,899 (GRCm39) |
H410L |
probably benign |
Het |
| Cyp39a1 |
G |
A |
17: 44,036,544 (GRCm39) |
|
probably null |
Het |
| Dnah1 |
A |
T |
14: 31,025,863 (GRCm39) |
I828N |
possibly damaging |
Het |
| Dnah7b |
A |
G |
1: 46,307,794 (GRCm39) |
D3036G |
probably damaging |
Het |
| Dnpep |
A |
G |
1: 75,290,092 (GRCm39) |
V295A |
probably benign |
Het |
| Efcab3 |
T |
A |
11: 104,722,969 (GRCm39) |
S1942T |
possibly damaging |
Het |
| Fam111a |
A |
G |
19: 12,565,301 (GRCm39) |
D394G |
possibly damaging |
Het |
| Fat1 |
A |
G |
8: 45,462,887 (GRCm39) |
K1235E |
possibly damaging |
Het |
| Gabre |
C |
A |
X: 71,313,865 (GRCm39) |
Q311H |
unknown |
Het |
| Garem1 |
T |
C |
18: 21,262,898 (GRCm39) |
S639G |
probably benign |
Het |
| Gsdma |
A |
G |
11: 98,557,429 (GRCm39) |
T123A |
probably benign |
Het |
| Iqcb1 |
A |
G |
16: 36,676,772 (GRCm39) |
N369S |
probably benign |
Het |
| Lepr |
G |
T |
4: 101,609,270 (GRCm39) |
V286F |
probably benign |
Het |
| Lgsn |
T |
C |
1: 31,242,461 (GRCm39) |
M181T |
probably benign |
Het |
| Mapk15 |
T |
G |
15: 75,870,697 (GRCm39) |
S512A |
probably benign |
Het |
| Mcm3ap |
A |
G |
10: 76,306,267 (GRCm39) |
T127A |
probably benign |
Het |
| Msto1 |
A |
G |
3: 88,818,614 (GRCm39) |
F315L |
possibly damaging |
Het |
| Myo5a |
T |
A |
9: 75,071,418 (GRCm39) |
D673E |
probably benign |
Het |
| Nup88 |
G |
C |
11: 70,860,605 (GRCm39) |
P58R |
probably benign |
Het |
| Or4x12-ps1 |
A |
C |
2: 89,915,977 (GRCm39) |
I276R |
probably damaging |
Het |
| Or52e15 |
C |
A |
7: 104,645,962 (GRCm39) |
V50L |
possibly damaging |
Het |
| Pierce1 |
TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC |
TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC |
2: 28,356,122 (GRCm39) |
|
probably benign |
Het |
| Ppp1r18 |
T |
C |
17: 36,178,191 (GRCm39) |
V22A |
probably benign |
Het |
| Psme1 |
T |
A |
14: 55,817,797 (GRCm39) |
C101* |
probably null |
Het |
| Rapgef4 |
G |
T |
2: 72,059,422 (GRCm39) |
C743F |
probably damaging |
Het |
| Rictor |
C |
T |
15: 6,801,635 (GRCm39) |
S441L |
probably benign |
Het |
| Rnmt |
T |
A |
18: 68,447,105 (GRCm39) |
Y330N |
probably damaging |
Het |
| Skint10 |
T |
A |
4: 112,573,014 (GRCm39) |
M261L |
possibly damaging |
Het |
| Slc35b1 |
T |
C |
11: 95,278,691 (GRCm39) |
Y192H |
probably damaging |
Het |
| Socs3 |
A |
G |
11: 117,858,396 (GRCm39) |
Y221H |
probably damaging |
Het |
| Spink12 |
A |
G |
18: 44,237,684 (GRCm39) |
|
probably benign |
Het |
| Sspo |
T |
C |
6: 48,444,020 (GRCm39) |
|
probably null |
Het |
| Trp73 |
G |
A |
4: 154,143,714 (GRCm39) |
Q551* |
probably null |
Het |
| Vmn2r45 |
C |
T |
7: 8,486,222 (GRCm39) |
W355* |
probably null |
Het |
| Wdr35 |
A |
G |
12: 9,066,042 (GRCm39) |
I678V |
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 |
|
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 |
|
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'- CACAGCATAGAAAGTAATGTCTCAC -3'
(R):5'- CTGAACTGTTTTGTGCCCAAG -3'
Sequencing Primer
(F):5'- GGACATGTACAGTGCTAAGATTC -3'
(R):5'- CCAAGGTGTCCATGTCATAGAAGTC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation