Incidental Mutation 'R1065:Il1b'
| ID |
85953 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Il1b
|
| Ensembl Gene |
ENSMUSG00000027398 |
| Gene Name |
interleukin 1 beta |
| Synonyms |
IL-1B, IL-1beta |
| MMRRC Submission |
039151-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.097)
|
| Stock # |
R1065 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
129206490-129213059 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 129209927 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 83
(T83I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028881
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028881]
|
| AlphaFold |
P10749 |
| PDB Structure |
THE STRUCTURE OF MURINE INTERLEUKIN-1 BETA AT 2.8 ANGSTROMS RESOLUTION [X-RAY DIFFRACTION]
A COMPARISON OF THE HIGH RESOLUTION STRUCTURES OF HUMAN AND MURINE INTERLEUKIN-1B [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028881
AA Change: T83I
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000028881
Gene: ENSMUSG00000027398
AA Change: T83I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IL1_propep
|
1 |
102 |
3.3e-37 |
PFAM |
|
IL1
|
120 |
265 |
1.74e-87 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141979
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143500
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155994
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156601
|
| Meta Mutation Damage Score |
0.1132 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.5%
|
| Validation Efficiency |
97% (36/37) |
| MGI Phenotype |
FUNCTION: The protein encoded by this gene is a member of the interleukin 1 cytokine family. This cytokine is produced by activated macrophages as a proprotein, which is proteolytically processed to its active form by caspase 1. The encoded protein plays a role in thymocyte proliferation and is involved in the inflammatory response. [provided by RefSeq, Aug 2015]
PHENOTYPE: Homozygous null mutants show impaired contact hypersensitivity and reduced acute-phase inflammatory response. Lung tumors and metastases of B16 melanoma do not occur in null mutant mice, suggesting inability to support tumor invasiveness and angiogenesis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cd300ld2 |
T |
C |
11: 114,904,586 (GRCm39) |
T94A |
probably damaging |
Het |
| Cdc42bpg |
G |
A |
19: 6,372,856 (GRCm39) |
S1515N |
probably damaging |
Het |
| Ckb |
T |
C |
12: 111,637,681 (GRCm39) |
E150G |
probably benign |
Het |
| Clec2m |
A |
G |
6: 129,300,013 (GRCm39) |
I155T |
possibly damaging |
Het |
| Cobl |
T |
A |
11: 12,204,327 (GRCm39) |
M785L |
possibly damaging |
Het |
| Col6a5 |
T |
C |
9: 105,758,982 (GRCm39) |
N2075D |
probably damaging |
Het |
| Commd7 |
G |
C |
2: 153,461,447 (GRCm39) |
|
probably benign |
Het |
| Corin |
G |
A |
5: 72,458,993 (GRCm39) |
R927* |
probably null |
Het |
| Dync2i1 |
C |
T |
12: 116,219,696 (GRCm39) |
R82H |
probably damaging |
Het |
| Ift122 |
A |
T |
6: 115,852,286 (GRCm39) |
|
probably null |
Het |
| Ints4 |
T |
C |
7: 97,157,099 (GRCm39) |
|
probably null |
Het |
| Msh6 |
T |
G |
17: 88,295,891 (GRCm39) |
|
probably benign |
Het |
| Mtmr3 |
T |
C |
11: 4,442,859 (GRCm39) |
K392E |
probably damaging |
Het |
| Or5t9 |
A |
G |
2: 86,659,888 (GRCm39) |
H264R |
probably damaging |
Het |
| Pde3a |
T |
C |
6: 141,422,458 (GRCm39) |
|
probably benign |
Het |
| Pde6h |
A |
C |
6: 136,936,368 (GRCm39) |
K37T |
probably damaging |
Het |
| Plat |
C |
A |
8: 23,266,879 (GRCm39) |
D290E |
probably damaging |
Het |
| Polk |
A |
C |
13: 96,644,760 (GRCm39) |
L122R |
probably damaging |
Het |
| Ppp1r3g |
T |
A |
13: 36,153,418 (GRCm39) |
D279E |
probably benign |
Het |
| Ptpru |
T |
C |
4: 131,535,651 (GRCm39) |
E370G |
possibly damaging |
Het |
| Ralgapa2 |
T |
C |
2: 146,292,478 (GRCm39) |
Y187C |
probably benign |
Het |
| Rps6ka2 |
C |
T |
17: 7,549,157 (GRCm39) |
|
probably benign |
Het |
| Slit3 |
T |
C |
11: 35,012,462 (GRCm39) |
S41P |
possibly damaging |
Het |
| Smarca5 |
A |
T |
8: 81,431,343 (GRCm39) |
L958Q |
probably damaging |
Het |
| Snx9 |
T |
C |
17: 5,952,636 (GRCm39) |
|
probably benign |
Het |
| Stkld1 |
A |
T |
2: 26,830,050 (GRCm39) |
N72I |
probably damaging |
Het |
| Strc |
C |
A |
2: 121,197,132 (GRCm39) |
D1532Y |
probably damaging |
Het |
| Sucla2 |
C |
T |
14: 73,798,074 (GRCm39) |
|
probably benign |
Het |
| Svil |
T |
G |
18: 5,063,777 (GRCm39) |
|
probably benign |
Het |
| Traf3ip1 |
T |
A |
1: 91,428,506 (GRCm39) |
D122E |
unknown |
Het |
| Vmn2r7 |
A |
T |
3: 64,614,559 (GRCm39) |
D509E |
possibly damaging |
Het |
| Vps52 |
C |
A |
17: 34,180,213 (GRCm39) |
Q306K |
probably benign |
Het |
| Zfp407 |
C |
T |
18: 84,577,898 (GRCm39) |
A1072T |
probably benign |
Het |
| Zfp418 |
C |
A |
7: 7,184,561 (GRCm39) |
Q175K |
probably benign |
Het |
| Zxdc |
T |
C |
6: 90,355,885 (GRCm39) |
S465P |
probably damaging |
Het |
|
| Other mutations in Il1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00898:Il1b
|
APN |
2 |
129,209,253 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL01488:Il1b
|
APN |
2 |
129,209,154 (GRCm39) |
splice site |
probably benign |
|
|
IGL01810:Il1b
|
APN |
2 |
129,211,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02041:Il1b
|
APN |
2 |
129,211,662 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02726:Il1b
|
APN |
2 |
129,209,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02793:Il1b
|
APN |
2 |
129,209,171 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02875:Il1b
|
APN |
2 |
129,209,171 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02884:Il1b
|
APN |
2 |
129,207,022 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1656:Il1b
|
UTSW |
2 |
129,207,989 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1761:Il1b
|
UTSW |
2 |
129,207,101 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2166:Il1b
|
UTSW |
2 |
129,206,968 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2568:Il1b
|
UTSW |
2 |
129,209,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4807:Il1b
|
UTSW |
2 |
129,212,226 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7684:Il1b
|
UTSW |
2 |
129,209,277 (GRCm39) |
missense |
probably benign |
0.03 |
|
Z1177:Il1b
|
UTSW |
2 |
129,211,665 (GRCm39) |
missense |
probably benign |
0.08 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCAAGTCAATGGTTGAGTTGCAAG -3'
(R):5'- TTCTCCACAGGGCTGCTTCCAAAC -3'
Sequencing Primer
(F):5'- TGAGTTGCAAGTGTAAGCATC -3'
(R):5'- AAACCTTTGACCTGGGCTG -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation