Incidental Mutation 'R0071:Chi3l1'
| ID |
17998 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chi3l1
|
| Ensembl Gene |
ENSMUSG00000064246 |
| Gene Name |
chitinase 3 like 1 |
| Synonyms |
Brp39, Chil1, Gp39 |
| MMRRC Submission |
038362-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.092)
|
| Stock # |
R0071 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
134109894-134117769 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 134113017 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 150
(Y150H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117117
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000082060]
[ENSMUST00000132873]
[ENSMUST00000133701]
[ENSMUST00000153856]
[ENSMUST00000156873]
|
| AlphaFold |
Q61362 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000082060
AA Change: Y158H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000080717
Gene: ENSMUSG00000064246
AA Change: Y158H
| 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
AA Change: Y85H
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000118289
Gene: ENSMUSG00000064246
AA Change: Y85H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_hydro_18
|
2 |
110 |
4.4e-33 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133701
AA Change: Y85H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000121471
Gene: ENSMUSG00000064246
AA Change: Y85H
| 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: ENSMUST00000153856
AA Change: Y150H
PolyPhen 2
Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000117117
Gene: ENSMUSG00000064246
AA Change: Y150H
| 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: ENSMUST00000156873
AA Change: Y148H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000119205
Gene: ENSMUSG00000064246
AA Change: Y148H
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Glyco_18
|
20 |
356 |
1.2e-143 |
SMART |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 88.2%
- 3x: 84.4%
- 10x: 70.8%
- 20x: 43.5%
|
| Validation Efficiency |
93% (94/101) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acrbp |
T |
C |
6: 125,027,915 (GRCm39) |
|
probably benign |
Het |
| Amotl1 |
G |
A |
9: 14,460,069 (GRCm39) |
A890V |
probably benign |
Het |
| Aox3 |
T |
A |
1: 58,211,050 (GRCm39) |
C931* |
probably null |
Het |
| Apob |
T |
A |
12: 8,052,111 (GRCm39) |
V1184E |
probably damaging |
Het |
| Bbx |
C |
T |
16: 50,100,755 (GRCm39) |
E47K |
probably benign |
Het |
| Bccip |
A |
G |
7: 133,315,960 (GRCm39) |
D72G |
probably damaging |
Het |
| Bckdha |
A |
T |
7: 25,329,868 (GRCm39) |
|
probably null |
Het |
| Bmerb1 |
A |
G |
16: 13,906,818 (GRCm39) |
D11G |
probably damaging |
Het |
| Cald1 |
C |
T |
6: 34,735,069 (GRCm39) |
|
probably benign |
Het |
| Cdk11b |
T |
C |
4: 155,733,880 (GRCm39) |
|
probably benign |
Het |
| Cebpe |
G |
T |
14: 54,948,061 (GRCm39) |
R261S |
probably damaging |
Het |
| Cep95 |
C |
T |
11: 106,681,554 (GRCm39) |
|
probably benign |
Het |
| Chrnd |
T |
C |
1: 87,120,559 (GRCm39) |
|
probably benign |
Het |
| Cog2 |
T |
C |
8: 125,275,407 (GRCm39) |
|
probably benign |
Het |
| Coro7 |
A |
T |
16: 4,488,391 (GRCm39) |
L93Q |
probably damaging |
Het |
| Csmd3 |
T |
C |
15: 47,460,217 (GRCm39) |
T3525A |
probably benign |
Het |
| Fam227b |
T |
A |
2: 125,965,994 (GRCm39) |
N144Y |
probably benign |
Het |
| Fhod1 |
A |
T |
8: 106,063,857 (GRCm39) |
|
probably null |
Het |
| Folr1 |
A |
G |
7: 101,513,130 (GRCm39) |
|
probably null |
Het |
| Glis3 |
C |
T |
19: 28,241,255 (GRCm39) |
|
probably benign |
Het |
| Golgb1 |
G |
A |
16: 36,735,865 (GRCm39) |
R1704Q |
probably benign |
Het |
| Helz2 |
T |
C |
2: 180,878,200 (GRCm39) |
Y866C |
probably damaging |
Het |
| Kcnma1 |
C |
T |
14: 23,576,835 (GRCm39) |
R236H |
probably damaging |
Het |
| Lct |
C |
T |
1: 128,219,755 (GRCm39) |
W1631* |
probably null |
Het |
| Limk1 |
G |
T |
5: 134,690,245 (GRCm39) |
Q104K |
probably benign |
Het |
| Ly75 |
T |
C |
2: 60,152,163 (GRCm39) |
K1130R |
probably benign |
Het |
| Mdm1 |
A |
G |
10: 117,982,701 (GRCm39) |
E112G |
probably damaging |
Het |
| Myo7a |
A |
T |
7: 97,706,037 (GRCm39) |
Y1836N |
probably damaging |
Het |
| Nsun7 |
A |
G |
5: 66,421,388 (GRCm39) |
Y118C |
probably benign |
Het |
| Or13a20 |
A |
T |
7: 140,232,170 (GRCm39) |
I93F |
probably benign |
Het |
| Or2d36 |
A |
G |
7: 106,746,919 (GRCm39) |
Y132C |
probably damaging |
Het |
| Osbpl11 |
T |
C |
16: 33,034,708 (GRCm39) |
|
probably benign |
Het |
| Pik3cb |
A |
T |
9: 98,926,918 (GRCm39) |
D886E |
probably benign |
Het |
| Pkhd1 |
T |
A |
1: 20,271,568 (GRCm39) |
Y2995F |
probably benign |
Het |
| Raver2 |
C |
T |
4: 100,977,642 (GRCm39) |
|
probably benign |
Het |
| Sec22c |
A |
G |
9: 121,521,979 (GRCm39) |
F44L |
probably damaging |
Het |
| Sephs1 |
A |
G |
2: 4,904,371 (GRCm39) |
T250A |
probably benign |
Het |
| Shoc1 |
A |
G |
4: 59,059,643 (GRCm39) |
Y1006H |
possibly damaging |
Het |
| Sobp |
A |
G |
10: 43,033,993 (GRCm39) |
L111P |
probably damaging |
Het |
| Sparcl1 |
G |
T |
5: 104,233,707 (GRCm39) |
Y547* |
probably null |
Het |
| Spata31d1b |
G |
A |
13: 59,863,163 (GRCm39) |
A104T |
probably benign |
Het |
| Spsb3 |
A |
G |
17: 25,106,878 (GRCm39) |
D184G |
probably damaging |
Het |
| Sptan1 |
A |
T |
2: 29,893,354 (GRCm39) |
K1148* |
probably null |
Het |
| Tdrd12 |
A |
G |
7: 35,228,671 (GRCm39) |
V17A |
possibly damaging |
Het |
| Tlr9 |
A |
G |
9: 106,100,777 (GRCm39) |
T23A |
probably benign |
Het |
| Tra2b |
A |
T |
16: 22,073,151 (GRCm39) |
|
probably benign |
Het |
| Tspan15 |
A |
G |
10: 62,038,849 (GRCm39) |
|
probably benign |
Het |
| Ttc41 |
A |
G |
10: 86,572,710 (GRCm39) |
N694S |
probably benign |
Het |
| Ube3b |
G |
A |
5: 114,557,558 (GRCm39) |
G1014D |
probably damaging |
Het |
| Unc5d |
A |
G |
8: 29,209,854 (GRCm39) |
V422A |
possibly damaging |
Het |
| Vmn2r80 |
C |
T |
10: 79,007,566 (GRCm39) |
T514I |
possibly 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 |
|
R0662:Chi3l1
|
UTSW |
1 |
134,116,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1263:Chi3l1
|
UTSW |
1 |
134,116,980 (GRCm39) |
missense |
probably benign |
0.02 |
|
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 |
|
|
| Posted On |
2013-03-25 |
Incidental Mutation