Incidental Mutation 'R1263:Chi3l1'
| ID |
151638 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chi3l1
|
| Ensembl Gene |
ENSMUSG00000064246 |
| Gene Name |
chitinase 3 like 1 |
| Synonyms |
Brp39, Chil1, Gp39 |
| MMRRC Submission |
039330-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.109)
|
| Stock # |
R1263 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
134109894-134117769 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 134116980 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 315
(E315K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117117
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038445]
[ENSMUST00000082060]
[ENSMUST00000132873]
[ENSMUST00000133701]
[ENSMUST00000156873]
[ENSMUST00000153856]
[ENSMUST00000191577]
|
| AlphaFold |
Q61362 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038445
|
| SMART Domains |
Protein: ENSMUSP00000042195
Gene: ENSMUSG00000042451
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
41 |
66 |
N/A |
INTRINSIC |
|
FN3
|
77 |
160 |
4.84e-9 |
SMART |
|
IG
|
187 |
270 |
9.78e-7 |
SMART |
|
FN3
|
273 |
355 |
1.1e-7 |
SMART |
|
IGc2
|
400 |
467 |
1.38e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000082060
AA Change: E323K
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000080717
Gene: ENSMUSG00000064246
AA Change: E323K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
Glyco_18
|
30 |
366 |
1.2e-143 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132873
|
| SMART Domains |
Protein: ENSMUSP00000118289
Gene: ENSMUSG00000064246
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_hydro_18
|
2 |
110 |
4.4e-33 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133701
|
| SMART Domains |
Protein: ENSMUSP00000121471
Gene: ENSMUSG00000064246
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_hydro_18
|
2 |
106 |
2e-32 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134812
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139254
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144819
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156873
AA Change: E313K
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000119205
Gene: ENSMUSG00000064246
AA Change: E313K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Glyco_18
|
20 |
356 |
1.2e-143 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153856
AA Change: E315K
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000117117
Gene: ENSMUSG00000064246
AA Change: E315K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Glyco_18
|
22 |
358 |
1.2e-143 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000191577
|
| SMART Domains |
Protein: ENSMUSP00000141104
Gene: ENSMUSG00000042451
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
41 |
66 |
N/A |
INTRINSIC |
|
FN3
|
77 |
160 |
4.84e-9 |
SMART |
|
IG
|
187 |
270 |
9.78e-7 |
SMART |
|
FN3
|
273 |
355 |
1.1e-7 |
SMART |
|
IGc2
|
400 |
467 |
1.38e-6 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 93.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Chitinases catalyze the hydrolysis of chitin, which is an abundant glycopolymer found in insect exoskeletons and fungal cell walls. The glycoside hydrolase 18 family of chitinases includes eight human family members. This gene encodes a glycoprotein member of the glycosyl hydrolase 18 family. The protein lacks chitinase activity and is secreted by activated macrophages, chondrocytes, neutrophils and synovial cells. The protein is thought to play a role in the process of inflammation and tissue remodeling. [provided by RefSeq, Sep 2009]
PHENOTYPE: Homozygous null mice show impaired OVA-induced Th2 responses with reduced splenocyte proliferation, cytokine production and IgE levels, impaired dendritic cell recruitment, higher CD4 T cell, macrophage and eosinophil apoptosis, and reduced CD4 T cell and alternatively activated macrophage numbers. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
A |
C |
11: 109,832,433 (GRCm39) |
H1231Q |
possibly damaging |
Het |
| Acbd4 |
T |
A |
11: 102,994,677 (GRCm39) |
|
probably null |
Het |
| Atp13a4 |
T |
A |
16: 29,290,771 (GRCm39) |
Y226F |
possibly damaging |
Het |
| Brd3 |
A |
C |
2: 27,352,534 (GRCm39) |
F132C |
probably damaging |
Het |
| Btaf1 |
A |
T |
19: 36,933,924 (GRCm39) |
N184I |
probably benign |
Het |
| Ccdc180 |
A |
G |
4: 45,903,887 (GRCm39) |
E351G |
possibly damaging |
Het |
| Ccdc185 |
A |
T |
1: 182,574,918 (GRCm39) |
Y590* |
probably null |
Het |
| Col6a6 |
T |
A |
9: 105,586,688 (GRCm39) |
M1778L |
probably benign |
Het |
| Cyp3a59 |
A |
C |
5: 146,041,521 (GRCm39) |
Y355S |
probably damaging |
Het |
| Cyp4a31 |
A |
G |
4: 115,431,908 (GRCm39) |
T396A |
probably benign |
Het |
| Dnaaf6rt |
A |
T |
1: 31,262,296 (GRCm39) |
I93F |
probably damaging |
Het |
| Dnah6 |
A |
T |
6: 73,121,948 (GRCm39) |
I1373N |
probably damaging |
Het |
| Dop1b |
C |
A |
16: 93,574,274 (GRCm39) |
H1598N |
probably benign |
Het |
| Erich4 |
T |
A |
7: 25,314,559 (GRCm39) |
K118M |
probably damaging |
Het |
| Gkap1 |
A |
T |
13: 58,403,587 (GRCm39) |
V179E |
probably benign |
Het |
| Gpr107 |
T |
G |
2: 31,068,267 (GRCm39) |
I243S |
possibly damaging |
Het |
| Hs3st6 |
A |
G |
17: 24,977,504 (GRCm39) |
N328S |
probably damaging |
Het |
| Kcnq5 |
A |
T |
1: 21,549,602 (GRCm39) |
I375N |
probably damaging |
Het |
| Klhdc3 |
A |
T |
17: 46,987,892 (GRCm39) |
H266Q |
probably benign |
Het |
| Krt71 |
C |
T |
15: 101,643,901 (GRCm39) |
G446R |
probably damaging |
Het |
| L3mbtl2 |
A |
G |
15: 81,567,169 (GRCm39) |
T423A |
probably benign |
Het |
| Mical3 |
T |
C |
6: 120,929,430 (GRCm39) |
E1812G |
probably damaging |
Het |
| Nlrp1a |
A |
G |
11: 70,987,948 (GRCm39) |
I1174T |
probably benign |
Het |
| Npas2 |
C |
A |
1: 39,373,849 (GRCm39) |
Q450K |
possibly damaging |
Het |
| Nrp1 |
T |
A |
8: 129,194,870 (GRCm39) |
I442N |
probably damaging |
Het |
| Or1j10 |
T |
A |
2: 36,267,006 (GRCm39) |
S73T |
probably damaging |
Het |
| Or2y1 |
A |
T |
11: 49,385,848 (GRCm39) |
M163L |
probably benign |
Het |
| Palld |
TGCGTAGCG |
TGCG |
8: 61,966,491 (GRCm39) |
|
probably null |
Het |
| Pold3 |
T |
A |
7: 99,768,890 (GRCm39) |
Q36L |
possibly damaging |
Het |
| Polg |
T |
C |
7: 79,109,534 (GRCm39) |
T428A |
probably benign |
Het |
| Rfx7 |
T |
A |
9: 72,484,329 (GRCm39) |
V57E |
possibly damaging |
Het |
| Rnf122 |
T |
G |
8: 31,602,177 (GRCm39) |
M1R |
probably null |
Het |
| Sanbr |
A |
T |
11: 23,570,278 (GRCm39) |
Y207* |
probably null |
Het |
| Scn10a |
T |
A |
9: 119,446,799 (GRCm39) |
T1410S |
probably damaging |
Het |
| Serpinb13 |
T |
A |
1: 106,928,466 (GRCm39) |
V362E |
probably damaging |
Het |
| Setdb1 |
T |
C |
3: 95,234,922 (GRCm39) |
N927S |
probably damaging |
Het |
| Sft2d1 |
A |
G |
17: 8,539,470 (GRCm39) |
K91R |
probably benign |
Het |
| Shprh |
A |
G |
10: 11,035,274 (GRCm39) |
H327R |
probably damaging |
Het |
| Slc9b2 |
C |
A |
3: 135,042,156 (GRCm39) |
H478Q |
probably benign |
Het |
| Styxl1 |
G |
T |
5: 135,782,737 (GRCm39) |
S117R |
probably damaging |
Het |
| Synj2 |
T |
C |
17: 6,069,634 (GRCm39) |
F150L |
probably damaging |
Het |
| Tep1 |
C |
A |
14: 51,082,970 (GRCm39) |
V1013L |
possibly damaging |
Het |
| Tgfbi |
T |
A |
13: 56,778,468 (GRCm39) |
L413Q |
probably damaging |
Het |
| Tmc5 |
G |
A |
7: 118,266,093 (GRCm39) |
R789Q |
probably damaging |
Het |
| Tonsl |
T |
A |
15: 76,506,762 (GRCm39) |
I115F |
possibly damaging |
Het |
| Trim38 |
A |
G |
13: 23,975,117 (GRCm39) |
Y352C |
probably damaging |
Het |
| Txnl4a |
T |
A |
18: 80,250,536 (GRCm39) |
V44D |
probably benign |
Het |
| Vars2 |
A |
G |
17: 35,972,501 (GRCm39) |
V39A |
probably damaging |
Het |
| Vmn2r105 |
A |
G |
17: 20,428,584 (GRCm39) |
C831R |
probably damaging |
Het |
| Vmn2r26 |
T |
A |
6: 124,027,667 (GRCm39) |
I469N |
probably benign |
Het |
| Vmn2r53 |
T |
C |
7: 12,315,533 (GRCm39) |
Y762C |
probably benign |
Het |
| Vps13d |
T |
A |
4: 144,896,918 (GRCm39) |
Q334L |
probably benign |
Het |
| Zfp277 |
A |
T |
12: 40,414,164 (GRCm39) |
I227N |
probably damaging |
Het |
|
| Other mutations in Chi3l1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00977:Chi3l1
|
APN |
1 |
134,115,711 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL01305:Chi3l1
|
APN |
1 |
134,110,554 (GRCm39) |
splice site |
probably benign |
|
|
IGL02051:Chi3l1
|
APN |
1 |
134,111,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02724:Chi3l1
|
APN |
1 |
134,116,981 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02754:Chi3l1
|
APN |
1 |
134,111,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0071:Chi3l1
|
UTSW |
1 |
134,113,017 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0071:Chi3l1
|
UTSW |
1 |
134,113,017 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0662:Chi3l1
|
UTSW |
1 |
134,116,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1728:Chi3l1
|
UTSW |
1 |
134,116,267 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1729:Chi3l1
|
UTSW |
1 |
134,116,267 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1730:Chi3l1
|
UTSW |
1 |
134,116,267 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1739:Chi3l1
|
UTSW |
1 |
134,116,267 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1762:Chi3l1
|
UTSW |
1 |
134,116,267 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1783:Chi3l1
|
UTSW |
1 |
134,116,267 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1784:Chi3l1
|
UTSW |
1 |
134,116,267 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1785:Chi3l1
|
UTSW |
1 |
134,116,267 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4992:Chi3l1
|
UTSW |
1 |
134,116,364 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5860:Chi3l1
|
UTSW |
1 |
134,112,909 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6019:Chi3l1
|
UTSW |
1 |
134,117,310 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6320:Chi3l1
|
UTSW |
1 |
134,109,996 (GRCm39) |
start codon destroyed |
probably null |
0.07 |
|
R7748:Chi3l1
|
UTSW |
1 |
134,116,966 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8419:Chi3l1
|
UTSW |
1 |
134,117,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8992:Chi3l1
|
UTSW |
1 |
134,115,662 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9051:Chi3l1
|
UTSW |
1 |
134,111,919 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9238:Chi3l1
|
UTSW |
1 |
134,115,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9509:Chi3l1
|
UTSW |
1 |
134,116,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF012:Chi3l1
|
UTSW |
1 |
134,112,909 (GRCm39) |
missense |
probably benign |
|
|
X0025:Chi3l1
|
UTSW |
1 |
134,111,370 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
Z1088:Chi3l1
|
UTSW |
1 |
134,117,238 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Chi3l1
|
UTSW |
1 |
134,116,968 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Z1176:Chi3l1
|
UTSW |
1 |
134,110,517 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAATTTGCATGAAGCCAGCAGCC -3'
(R):5'- TGGAAATCATCCAAATCCAGTGCCC -3'
Sequencing Primer
(F):5'- AAGCCAGCAGCCTGGAG -3'
(R):5'- TTCAGGAACCCAACCTGGTG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation