Incidental Mutation 'IGL01944:Il36b'
| ID |
181184 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Il36b
|
| Ensembl Gene |
ENSMUSG00000026985 |
| Gene Name |
interleukin 36B |
| Synonyms |
If36b, Il1f8, 2310043N20Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
IGL01944
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
24043184-24050115 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 24045291 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 48
(W48R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028363
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028363]
|
| AlphaFold |
Q9D6Z6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028363
AA Change: W48R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000028363
Gene: ENSMUSG00000026985
AA Change: W48R
| Domain | Start | End | E-Value | Type |
|---|
|
IL1
|
33 |
180 |
3.19e-22 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd11 |
T |
A |
5: 135,040,230 (GRCm39) |
V202D |
probably damaging |
Het |
| Afdn |
A |
G |
17: 14,030,743 (GRCm39) |
N218S |
probably damaging |
Het |
| Arhgef1 |
G |
A |
7: 24,625,208 (GRCm39) |
|
probably null |
Het |
| Atp1a2 |
G |
T |
1: 172,103,754 (GRCm39) |
T959K |
probably damaging |
Het |
| Atp6v0a2 |
A |
G |
5: 124,774,043 (GRCm39) |
E96G |
probably benign |
Het |
| B9d1 |
A |
T |
11: 61,403,205 (GRCm39) |
M52L |
probably benign |
Het |
| Col6a6 |
T |
A |
9: 105,661,108 (GRCm39) |
I334F |
probably damaging |
Het |
| Drd3 |
T |
C |
16: 43,638,671 (GRCm39) |
F259L |
probably benign |
Het |
| Drosha |
T |
G |
15: 12,889,805 (GRCm39) |
L891R |
probably damaging |
Het |
| Ecpas |
G |
T |
4: 58,861,544 (GRCm39) |
T345K |
probably benign |
Het |
| Garin5b |
T |
C |
7: 4,773,694 (GRCm39) |
N67S |
possibly damaging |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Greb1l |
T |
C |
18: 10,557,280 (GRCm39) |
V1760A |
possibly damaging |
Het |
| Ipo9 |
C |
A |
1: 135,333,624 (GRCm39) |
V353F |
probably damaging |
Het |
| Kmt2a |
A |
T |
9: 44,761,064 (GRCm39) |
F126I |
probably damaging |
Het |
| Mmrn1 |
T |
C |
6: 60,948,167 (GRCm39) |
|
probably null |
Het |
| Nup214 |
T |
A |
2: 31,924,971 (GRCm39) |
C328* |
probably null |
Het |
| Or9g19 |
A |
G |
2: 85,600,384 (GRCm39) |
I80V |
probably damaging |
Het |
| Pcdh17 |
G |
T |
14: 84,684,960 (GRCm39) |
V476L |
probably benign |
Het |
| Pcdh17 |
T |
A |
14: 84,684,961 (GRCm39) |
V476E |
probably damaging |
Het |
| Prpf38b |
A |
T |
3: 108,811,991 (GRCm39) |
S291R |
probably benign |
Het |
| Rap1gap |
T |
C |
4: 137,452,931 (GRCm39) |
S601P |
probably damaging |
Het |
| Rnf213 |
T |
C |
11: 119,307,283 (GRCm39) |
Y648H |
probably benign |
Het |
| Slfn3 |
A |
G |
11: 83,103,974 (GRCm39) |
T282A |
possibly damaging |
Het |
| Ttll3 |
C |
T |
6: 113,391,076 (GRCm39) |
T887I |
probably benign |
Het |
| Vmn1r197 |
A |
G |
13: 22,512,508 (GRCm39) |
N143S |
possibly damaging |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Xpo4 |
T |
C |
14: 57,841,855 (GRCm39) |
I487V |
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 |
|
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 |
|
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 |
2014-05-07 |
Incidental Mutation