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 |
Incidental Mutation