Incidental Mutation 'R0035:Il36b'
ID |
15405 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Il36b
|
Ensembl Gene |
ENSMUSG00000026985 |
Gene Name |
interleukin 36B |
Synonyms |
If36b, Il1f8, 2310043N20Rik |
MMRRC Submission |
038329-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.068)
|
Stock # |
R0035 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
24043184-24050115 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 24049890 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 167
(H167L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000028363
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028363]
|
AlphaFold |
Q9D6Z6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028363
AA Change: H167L
PolyPhen 2
Score 0.188 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000028363 Gene: ENSMUSG00000026985 AA Change: H167L
Domain | Start | End | E-Value | Type |
IL1
|
33 |
180 |
3.19e-22 |
SMART |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 75.6%
- 3x: 61.5%
- 10x: 31.6%
- 20x: 15.2%
|
Validation Efficiency |
94% (51/54) |
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 member of the interleukin 1 cytokine family. Protein structure modeling indicated that this cytokine may contain a 12-stranded beta-trefoil structure that is conserved between IL1A (IL-A alpha) and IL1B (IL-1 beta). This gene and eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. Two alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3110040N11Rik |
T |
C |
7: 81,438,297 (GRCm39) |
T20A |
probably benign |
Het |
Acvr1c |
A |
G |
2: 58,205,791 (GRCm39) |
|
probably benign |
Het |
Aox1 |
T |
C |
1: 58,393,581 (GRCm39) |
V1247A |
probably benign |
Het |
Ap4b1 |
T |
C |
3: 103,727,980 (GRCm39) |
|
probably benign |
Het |
Cfap53 |
A |
G |
18: 74,433,278 (GRCm39) |
E121G |
probably damaging |
Het |
Clec4a3 |
T |
A |
6: 122,944,508 (GRCm39) |
Y185N |
probably damaging |
Het |
Clic5 |
A |
G |
17: 44,586,200 (GRCm39) |
T230A |
probably damaging |
Het |
Clspn |
G |
T |
4: 126,458,796 (GRCm39) |
|
probably null |
Het |
Deup1 |
T |
C |
9: 15,511,117 (GRCm39) |
R221G |
possibly damaging |
Het |
Dnah8 |
A |
T |
17: 30,902,595 (GRCm39) |
|
probably benign |
Het |
Dnase1l2 |
A |
G |
17: 24,660,049 (GRCm39) |
V273A |
probably damaging |
Het |
Gm5134 |
T |
A |
10: 75,829,698 (GRCm39) |
F328Y |
probably benign |
Het |
Il23r |
A |
G |
6: 67,450,772 (GRCm39) |
|
probably benign |
Het |
Ktn1 |
A |
G |
14: 47,967,836 (GRCm39) |
N1167D |
probably benign |
Het |
Map6 |
C |
T |
7: 98,966,815 (GRCm39) |
T345I |
probably damaging |
Het |
Mark2 |
A |
T |
19: 7,262,017 (GRCm39) |
|
probably benign |
Het |
Nr1h5 |
T |
A |
3: 102,856,889 (GRCm39) |
K208* |
probably null |
Het |
Obp2b |
T |
C |
2: 25,628,645 (GRCm39) |
L133P |
probably damaging |
Het |
Ptafr |
C |
A |
4: 132,306,864 (GRCm39) |
L85I |
probably benign |
Het |
Ptprk |
T |
A |
10: 28,139,504 (GRCm39) |
Y76* |
probably null |
Het |
Rad50 |
A |
G |
11: 53,545,854 (GRCm39) |
|
probably benign |
Het |
Rasef |
G |
T |
4: 73,681,091 (GRCm39) |
|
probably benign |
Het |
Tbc1d17 |
T |
C |
7: 44,490,832 (GRCm39) |
N587D |
probably benign |
Het |
Zc3h12c |
A |
T |
9: 52,055,047 (GRCm39) |
M235K |
probably benign |
Het |
Zfp619 |
G |
A |
7: 39,186,706 (GRCm39) |
G912D |
probably damaging |
Het |
Zfp982 |
A |
C |
4: 147,597,149 (GRCm39) |
K169Q |
probably benign |
Het |
|
Other mutations in Il36b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01288:Il36b
|
APN |
2 |
24,049,925 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01944:Il36b
|
APN |
2 |
24,045,291 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02379:Il36b
|
APN |
2 |
24,044,650 (GRCm39) |
missense |
probably benign |
0.01 |
R0035:Il36b
|
UTSW |
2 |
24,049,890 (GRCm39) |
missense |
probably benign |
0.19 |
R2137:Il36b
|
UTSW |
2 |
24,044,672 (GRCm39) |
missense |
probably benign |
0.00 |
R2139:Il36b
|
UTSW |
2 |
24,044,672 (GRCm39) |
missense |
probably benign |
0.00 |
R4052:Il36b
|
UTSW |
2 |
24,049,844 (GRCm39) |
missense |
probably damaging |
1.00 |
R4096:Il36b
|
UTSW |
2 |
24,048,826 (GRCm39) |
missense |
possibly damaging |
0.66 |
R4705:Il36b
|
UTSW |
2 |
24,044,630 (GRCm39) |
missense |
probably benign |
0.00 |
R5785:Il36b
|
UTSW |
2 |
24,044,661 (GRCm39) |
missense |
probably benign |
0.00 |
R6541:Il36b
|
UTSW |
2 |
24,049,827 (GRCm39) |
missense |
probably damaging |
1.00 |
R7517:Il36b
|
UTSW |
2 |
24,049,890 (GRCm39) |
missense |
probably benign |
0.02 |
R7752:Il36b
|
UTSW |
2 |
24,048,826 (GRCm39) |
missense |
possibly damaging |
0.66 |
R7858:Il36b
|
UTSW |
2 |
24,044,626 (GRCm39) |
missense |
probably benign |
0.00 |
R8252:Il36b
|
UTSW |
2 |
24,048,825 (GRCm39) |
missense |
possibly damaging |
0.46 |
R8820:Il36b
|
UTSW |
2 |
24,049,892 (GRCm39) |
nonsense |
probably null |
|
|
Posted On |
2012-12-17 |