Incidental Mutation 'R6879:Il33'
| ID |
536583 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Il33
|
| Ensembl Gene |
ENSMUSG00000024810 |
| Gene Name |
interleukin 33 |
| Synonyms |
Il1f11, 9230117N10Rik, NF-HEV, Il-33 |
| MMRRC Submission |
044975-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6879 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
29902514-29938118 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 29936362 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 224
(V224A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135854
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025724]
[ENSMUST00000120388]
[ENSMUST00000177518]
|
| AlphaFold |
Q8BVZ5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025724
AA Change: V241A
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000025724
Gene: ENSMUSG00000024810
AA Change: V241A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IL33
|
5 |
264 |
4.6e-146 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120388
AA Change: V241A
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000113829
Gene: ENSMUSG00000024810
AA Change: V241A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IL33
|
5 |
264 |
3.4e-129 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000177518
AA Change: V224A
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000135854
Gene: ENSMUSG00000024810
AA Change: V224A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IL33
|
5 |
228 |
4.1e-115 |
PFAM |
|
| Meta Mutation Damage Score |
0.1362 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
100% (42/42) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a cytokine that binds to the IL1RL1/ST2 receptor. The encoded protein is involved in the maturation of Th2 cells and the activation of mast cells, basophils, eosinophils and natural killer cells. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]
PHENOTYPE: Nullizygous mutations lead to altered Type 2 immunity and increased susceptibility to parasite infection. Homozygotes for a null allele show accelerated ovarian functional decline and early reproductive aging due to impaired migration of ovarian macrophages and failed disposal of atretic follicles. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adat3 |
A |
G |
10: 80,442,621 (GRCm39) |
D153G |
probably damaging |
Het |
| Agap1 |
A |
T |
1: 89,694,177 (GRCm39) |
I492F |
probably benign |
Het |
| Arhgap31 |
G |
A |
16: 38,422,676 (GRCm39) |
T1130I |
probably benign |
Het |
| Atg2a |
T |
A |
19: 6,301,882 (GRCm39) |
C923S |
possibly damaging |
Het |
| B3gnt8 |
C |
A |
7: 25,328,277 (GRCm39) |
Q236K |
probably benign |
Het |
| Bptf |
T |
G |
11: 106,933,516 (GRCm39) |
I261L |
probably benign |
Het |
| Cacna1s |
T |
C |
1: 136,043,697 (GRCm39) |
F1592S |
probably benign |
Het |
| Catspere2 |
A |
T |
1: 177,926,338 (GRCm39) |
T335S |
possibly damaging |
Het |
| Cops7a |
A |
T |
6: 124,935,748 (GRCm39) |
|
probably null |
Het |
| Defb10 |
A |
G |
8: 22,351,898 (GRCm39) |
I48V |
probably benign |
Het |
| Gabrg3 |
A |
C |
7: 57,031,387 (GRCm39) |
L51R |
probably damaging |
Het |
| Gins2 |
G |
A |
8: 121,312,850 (GRCm39) |
T96M |
probably damaging |
Het |
| Gm11568 |
A |
G |
11: 99,749,053 (GRCm39) |
Q86R |
unknown |
Het |
| Kcnh3 |
C |
A |
15: 99,136,048 (GRCm39) |
Q682K |
probably damaging |
Het |
| Kif19a |
A |
G |
11: 114,672,159 (GRCm39) |
I249V |
probably benign |
Het |
| Kif26a |
T |
C |
12: 112,144,087 (GRCm39) |
V1447A |
probably benign |
Het |
| Klhdc10 |
T |
A |
6: 30,449,589 (GRCm39) |
M217K |
probably damaging |
Het |
| Mcc |
T |
C |
18: 44,945,179 (GRCm39) |
S18G |
unknown |
Het |
| Mical1 |
A |
T |
10: 41,360,515 (GRCm39) |
Q651H |
probably damaging |
Het |
| Mpdz |
G |
A |
4: 81,266,893 (GRCm39) |
T340I |
possibly damaging |
Het |
| Or5b95 |
T |
C |
19: 12,658,135 (GRCm39) |
I221T |
probably benign |
Het |
| Or6c202 |
T |
G |
10: 128,996,848 (GRCm39) |
K2Q |
probably benign |
Het |
| Pira12 |
A |
T |
7: 3,899,961 (GRCm39) |
S214T |
probably benign |
Het |
| Plekha6 |
A |
T |
1: 133,187,793 (GRCm39) |
M105L |
possibly damaging |
Het |
| Ppp4r4 |
T |
A |
12: 103,518,179 (GRCm39) |
|
probably null |
Het |
| Samd12 |
T |
C |
15: 53,521,826 (GRCm39) |
N128S |
probably benign |
Het |
| Six6 |
A |
G |
12: 72,987,298 (GRCm39) |
K157E |
probably benign |
Het |
| Slc13a3 |
C |
A |
2: 165,272,221 (GRCm39) |
G274V |
probably damaging |
Het |
| Slc25a54 |
T |
A |
3: 109,020,150 (GRCm39) |
V388E |
possibly damaging |
Het |
| Smad2 |
A |
G |
18: 76,395,725 (GRCm39) |
T55A |
possibly damaging |
Het |
| Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
| Spats2 |
T |
C |
15: 99,071,293 (GRCm39) |
V39A |
probably damaging |
Het |
| Stk32b |
A |
G |
5: 37,647,867 (GRCm39) |
I167T |
possibly damaging |
Het |
| Taf1b |
T |
A |
12: 24,550,516 (GRCm39) |
C34S |
possibly damaging |
Het |
| Tex2 |
T |
C |
11: 106,424,836 (GRCm39) |
E812G |
unknown |
Het |
| Tlcd2 |
T |
A |
11: 75,360,514 (GRCm39) |
W186R |
probably damaging |
Het |
| Txn2 |
G |
A |
15: 77,803,922 (GRCm39) |
|
probably benign |
Het |
| Uggt2 |
T |
C |
14: 119,239,271 (GRCm39) |
K1387R |
probably benign |
Het |
| Unc79 |
T |
A |
12: 103,115,046 (GRCm39) |
|
probably null |
Het |
| Usp21 |
T |
C |
1: 171,110,077 (GRCm39) |
D538G |
probably damaging |
Het |
| Zfp109 |
C |
T |
7: 23,928,615 (GRCm39) |
E265K |
probably benign |
Het |
| Zfp263 |
A |
G |
16: 3,567,719 (GRCm39) |
H390R |
probably damaging |
Het |
|
| Other mutations in Il33 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01310:Il33
|
APN |
19 |
29,930,156 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01531:Il33
|
APN |
19 |
29,929,381 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL01627:Il33
|
APN |
19 |
29,929,390 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02535:Il33
|
APN |
19 |
29,930,147 (GRCm39) |
missense |
probably benign |
0.04 |
|
lacquer
|
UTSW |
19 |
29,929,390 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
PIT4504001:Il33
|
UTSW |
19 |
29,930,139 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0548:Il33
|
UTSW |
19 |
29,932,047 (GRCm39) |
missense |
probably benign |
0.37 |
|
R0557:Il33
|
UTSW |
19 |
29,932,036 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1511:Il33
|
UTSW |
19 |
29,932,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1512:Il33
|
UTSW |
19 |
29,929,390 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1993:Il33
|
UTSW |
19 |
29,934,304 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R1994:Il33
|
UTSW |
19 |
29,934,304 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R2035:Il33
|
UTSW |
19 |
29,932,037 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4779:Il33
|
UTSW |
19 |
29,936,311 (GRCm39) |
nonsense |
probably null |
|
|
R6429:Il33
|
UTSW |
19 |
29,929,400 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6498:Il33
|
UTSW |
19 |
29,927,137 (GRCm39) |
missense |
probably benign |
|
|
R7218:Il33
|
UTSW |
19 |
29,936,325 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7571:Il33
|
UTSW |
19 |
29,934,341 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0025:Il33
|
UTSW |
19 |
29,932,012 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGCAATGGTAGCTCTGGAC -3'
(R):5'- GTGAGTCTATTGAACATGTAGCTG -3'
Sequencing Primer
(F):5'- AATGGTAGCTCTGGACTCCCC -3'
(R):5'- TTCCACAACATCGTAAGCCAAGAATG -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation