Incidental Mutation 'R0031:Irak3'
ID |
18635 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Irak3
|
Ensembl Gene |
ENSMUSG00000020227 |
Gene Name |
interleukin-1 receptor-associated kinase 3 |
Synonyms |
IRAK-M, 4833428C18Rik |
MMRRC Submission |
038325-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.530)
|
Stock # |
R0031 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
119977553-120038035 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 120012225 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Stop codon
at position 88
(K88*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118038
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020448]
[ENSMUST00000135106]
[ENSMUST00000145665]
|
AlphaFold |
Q8K4B2 |
Predicted Effect |
probably null
Transcript: ENSMUST00000020448
AA Change: K180*
|
SMART Domains |
Protein: ENSMUSP00000020448 Gene: ENSMUSG00000020227 AA Change: K180*
Domain | Start | End | E-Value | Type |
Pfam:Death
|
26 |
106 |
1.3e-15 |
PFAM |
Pfam:Pkinase
|
178 |
456 |
8.4e-37 |
PFAM |
Pfam:Pkinase_Tyr
|
178 |
456 |
2e-35 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000135106
AA Change: K180*
|
SMART Domains |
Protein: ENSMUSP00000123604 Gene: ENSMUSG00000020227 AA Change: K180*
Domain | Start | End | E-Value | Type |
Pfam:Death
|
26 |
106 |
2.2e-16 |
PFAM |
Pfam:Pkinase_Tyr
|
178 |
301 |
3.1e-15 |
PFAM |
Pfam:Pkinase
|
178 |
302 |
4.9e-18 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143100
|
Predicted Effect |
probably null
Transcript: ENSMUST00000145665
AA Change: K88*
|
SMART Domains |
Protein: ENSMUSP00000118038 Gene: ENSMUSG00000020227 AA Change: K88*
Domain | Start | End | E-Value | Type |
Pfam:Pkinase
|
86 |
364 |
8.4e-35 |
PFAM |
Pfam:Pkinase_Tyr
|
86 |
364 |
1.7e-34 |
PFAM |
|
Meta Mutation Damage Score |
0.9710 |
Coding Region Coverage |
- 1x: 81.0%
- 3x: 73.5%
- 10x: 52.2%
- 20x: 32.1%
|
Validation Efficiency |
93% (95/102) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the interleukin-1 receptor-associated kinase protein family. Members of this family are essential components of the Toll/IL-R immune signal transduction pathways. This protein is primarily expressed in monocytes and macrophages and functions as a negative regulator of Toll-like receptor signaling. Mutations in this gene are associated with a susceptibility to asthma. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010] PHENOTYPE: Mice homozygous for disruptions in this gene display abnormal inflammatory responses to bacterial infections and loose bone mass with age. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb11 |
G |
A |
2: 69,115,652 (GRCm39) |
R571C |
probably damaging |
Het |
Agr3 |
T |
C |
12: 35,997,590 (GRCm39) |
M100T |
probably benign |
Het |
Ankrd7 |
T |
A |
6: 18,870,007 (GRCm39) |
Y253* |
probably null |
Het |
Atp2c2 |
A |
T |
8: 120,475,801 (GRCm39) |
T565S |
probably benign |
Het |
Ccdc88b |
G |
T |
19: 6,831,151 (GRCm39) |
S597Y |
possibly damaging |
Het |
Celsr2 |
T |
C |
3: 108,320,379 (GRCm39) |
N811S |
probably damaging |
Het |
Cep170 |
A |
T |
1: 176,583,657 (GRCm39) |
D907E |
probably damaging |
Het |
Cip2a |
C |
T |
16: 48,837,736 (GRCm39) |
S812F |
probably benign |
Het |
Clstn1 |
G |
A |
4: 149,719,253 (GRCm39) |
V361M |
probably damaging |
Het |
Cmss1 |
T |
G |
16: 57,131,612 (GRCm39) |
|
probably null |
Het |
Cobl |
T |
C |
11: 12,204,945 (GRCm39) |
T579A |
probably benign |
Het |
Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
Csrp2 |
C |
T |
10: 110,774,601 (GRCm39) |
S172L |
probably benign |
Het |
Fip1l1 |
T |
C |
5: 74,717,770 (GRCm39) |
S235P |
probably damaging |
Het |
Gbgt1 |
T |
A |
2: 28,388,462 (GRCm39) |
|
probably benign |
Het |
Gml2 |
T |
C |
15: 74,696,125 (GRCm39) |
I173T |
probably benign |
Het |
Gucy2c |
T |
A |
6: 136,674,997 (GRCm39) |
I1005F |
probably damaging |
Het |
Klc1 |
T |
C |
12: 111,743,467 (GRCm39) |
Y265H |
probably damaging |
Het |
Lamb1 |
G |
A |
12: 31,351,155 (GRCm39) |
V754I |
probably benign |
Het |
Lrguk |
A |
T |
6: 34,020,431 (GRCm39) |
Q58H |
probably damaging |
Het |
Lyst |
A |
G |
13: 13,882,741 (GRCm39) |
D2902G |
probably benign |
Het |
Mtpap |
T |
A |
18: 4,383,244 (GRCm39) |
I207N |
probably damaging |
Het |
Ncdn |
A |
T |
4: 126,643,901 (GRCm39) |
|
probably null |
Het |
Nup160 |
A |
G |
2: 90,547,931 (GRCm39) |
|
probably null |
Het |
Ormdl1 |
A |
G |
1: 53,338,318 (GRCm39) |
|
probably benign |
Het |
Pde5a |
A |
G |
3: 122,596,704 (GRCm39) |
M432V |
probably benign |
Het |
Pikfyve |
T |
A |
1: 65,255,088 (GRCm39) |
|
probably benign |
Het |
Plcb2 |
A |
G |
2: 118,545,942 (GRCm39) |
V581A |
probably benign |
Het |
Plpp6 |
T |
A |
19: 28,942,243 (GRCm39) |
N281K |
probably benign |
Het |
Pwp1 |
T |
C |
10: 85,721,760 (GRCm39) |
I422T |
probably benign |
Het |
Rims1 |
T |
C |
1: 22,367,103 (GRCm39) |
N1199S |
probably damaging |
Het |
Sema3c |
T |
C |
5: 17,899,726 (GRCm39) |
L406P |
probably damaging |
Het |
Senp6 |
C |
T |
9: 80,033,525 (GRCm39) |
P84L |
probably damaging |
Het |
Setx |
A |
G |
2: 29,066,941 (GRCm39) |
I2361V |
probably benign |
Het |
Slc25a12 |
C |
T |
2: 71,163,958 (GRCm39) |
V106M |
possibly damaging |
Het |
Slc3a1 |
A |
G |
17: 85,340,274 (GRCm39) |
Y232C |
probably damaging |
Het |
Spata31g1 |
A |
T |
4: 42,973,712 (GRCm39) |
K1015M |
probably damaging |
Het |
Taf1c |
A |
T |
8: 120,325,829 (GRCm39) |
C678S |
probably benign |
Het |
Tcp11l2 |
G |
T |
10: 84,427,004 (GRCm39) |
C156F |
probably damaging |
Het |
Tmem62 |
A |
G |
2: 120,829,594 (GRCm39) |
T316A |
probably benign |
Het |
Ulk4 |
A |
G |
9: 121,102,048 (GRCm39) |
I10T |
probably damaging |
Het |
Vps54 |
T |
C |
11: 21,262,899 (GRCm39) |
I824T |
probably damaging |
Het |
Wdfy3 |
A |
T |
5: 102,037,161 (GRCm39) |
V2042E |
probably damaging |
Het |
Wfdc6b |
A |
T |
2: 164,455,779 (GRCm39) |
E36V |
probably damaging |
Het |
Xpc |
C |
T |
6: 91,468,208 (GRCm39) |
A860T |
probably benign |
Het |
|
Other mutations in Irak3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00332:Irak3
|
APN |
10 |
120,013,972 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01015:Irak3
|
APN |
10 |
119,978,695 (GRCm39) |
nonsense |
probably null |
|
IGL01530:Irak3
|
APN |
10 |
119,978,699 (GRCm39) |
missense |
probably benign |
0.10 |
IGL01641:Irak3
|
APN |
10 |
120,012,252 (GRCm39) |
missense |
probably benign |
0.35 |
IGL01730:Irak3
|
APN |
10 |
120,014,005 (GRCm39) |
missense |
probably benign |
0.04 |
IGL02054:Irak3
|
APN |
10 |
120,012,164 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02938:Irak3
|
APN |
10 |
120,018,429 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02954:Irak3
|
APN |
10 |
120,012,147 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02992:Irak3
|
APN |
10 |
120,018,566 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03376:Irak3
|
APN |
10 |
119,982,541 (GRCm39) |
splice site |
probably benign |
|
iracema
|
UTSW |
10 |
119,981,687 (GRCm39) |
missense |
probably damaging |
0.99 |
R0734:Irak3
|
UTSW |
10 |
119,981,542 (GRCm39) |
splice site |
probably benign |
|
R1017:Irak3
|
UTSW |
10 |
119,978,789 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1025:Irak3
|
UTSW |
10 |
120,012,251 (GRCm39) |
missense |
probably damaging |
1.00 |
R1486:Irak3
|
UTSW |
10 |
119,978,966 (GRCm39) |
missense |
probably damaging |
1.00 |
R1538:Irak3
|
UTSW |
10 |
120,001,035 (GRCm39) |
missense |
probably benign |
0.00 |
R1596:Irak3
|
UTSW |
10 |
120,018,451 (GRCm39) |
missense |
probably damaging |
1.00 |
R1689:Irak3
|
UTSW |
10 |
119,982,457 (GRCm39) |
missense |
probably damaging |
0.98 |
R2133:Irak3
|
UTSW |
10 |
120,001,082 (GRCm39) |
missense |
probably benign |
0.10 |
R3609:Irak3
|
UTSW |
10 |
119,981,582 (GRCm39) |
missense |
possibly damaging |
0.95 |
R3947:Irak3
|
UTSW |
10 |
120,006,278 (GRCm39) |
missense |
probably benign |
0.00 |
R3948:Irak3
|
UTSW |
10 |
120,006,278 (GRCm39) |
missense |
probably benign |
0.00 |
R4510:Irak3
|
UTSW |
10 |
119,981,813 (GRCm39) |
missense |
probably damaging |
0.99 |
R4511:Irak3
|
UTSW |
10 |
119,981,813 (GRCm39) |
missense |
probably damaging |
0.99 |
R4885:Irak3
|
UTSW |
10 |
120,018,586 (GRCm39) |
missense |
probably damaging |
1.00 |
R5007:Irak3
|
UTSW |
10 |
119,982,334 (GRCm39) |
critical splice donor site |
probably null |
|
R5180:Irak3
|
UTSW |
10 |
119,981,687 (GRCm39) |
missense |
probably damaging |
0.99 |
R5704:Irak3
|
UTSW |
10 |
119,981,594 (GRCm39) |
missense |
probably benign |
0.04 |
R5715:Irak3
|
UTSW |
10 |
119,978,641 (GRCm39) |
missense |
possibly damaging |
0.66 |
R6020:Irak3
|
UTSW |
10 |
119,979,042 (GRCm39) |
missense |
probably damaging |
1.00 |
R6916:Irak3
|
UTSW |
10 |
120,037,270 (GRCm39) |
missense |
probably damaging |
1.00 |
R7182:Irak3
|
UTSW |
10 |
120,002,416 (GRCm39) |
missense |
probably damaging |
1.00 |
R7707:Irak3
|
UTSW |
10 |
119,982,489 (GRCm39) |
missense |
probably damaging |
0.99 |
R7787:Irak3
|
UTSW |
10 |
120,012,256 (GRCm39) |
missense |
probably benign |
0.06 |
R8087:Irak3
|
UTSW |
10 |
120,018,440 (GRCm39) |
missense |
probably benign |
0.02 |
R8673:Irak3
|
UTSW |
10 |
119,982,493 (GRCm39) |
missense |
possibly damaging |
0.68 |
X0023:Irak3
|
UTSW |
10 |
119,979,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-03-25 |