Incidental Mutation 'IGL01015:Irak3'
| ID |
53811 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Irak3
|
| Ensembl Gene |
ENSMUSG00000020227 |
| Gene Name |
interleukin-1 receptor-associated kinase 3 |
| Synonyms |
IRAK-M, 4833428C18Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.530)
|
| Stock # |
IGL01015
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
119977553-120038035 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 119978695 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 493
(Y493*)
|
| 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: Y585*
|
| SMART Domains |
Protein: ENSMUSP00000020448
Gene: ENSMUSG00000020227
AA Change: Y585*
| 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 benign
Transcript: ENSMUST00000135106
|
| SMART Domains |
Protein: ENSMUSP00000123604
Gene: ENSMUSG00000020227
| 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 |
probably null
Transcript: ENSMUST00000145665
AA Change: Y493*
|
| SMART Domains |
Protein: ENSMUSP00000118038
Gene: ENSMUSG00000020227
AA Change: Y493*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
86 |
364 |
8.4e-35 |
PFAM |
|
Pfam:Pkinase_Tyr
|
86 |
364 |
1.7e-34 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano4 |
A |
G |
10: 88,870,961 (GRCm39) |
Y238H |
probably damaging |
Het |
| Apol7a |
T |
C |
15: 77,274,055 (GRCm39) |
|
probably benign |
Het |
| Cacna1d |
A |
T |
14: 29,773,699 (GRCm39) |
|
probably benign |
Het |
| Col12a1 |
A |
G |
9: 79,541,023 (GRCm39) |
V2368A |
probably damaging |
Het |
| Creb3l4 |
A |
G |
3: 90,150,138 (GRCm39) |
M1T |
probably null |
Het |
| Dpys |
T |
C |
15: 39,710,045 (GRCm39) |
D128G |
probably damaging |
Het |
| Ero1b |
A |
G |
13: 12,616,623 (GRCm39) |
|
probably null |
Het |
| Fcgbpl1 |
T |
C |
7: 27,854,743 (GRCm39) |
C1790R |
probably damaging |
Het |
| Fcgr4 |
A |
G |
1: 170,853,358 (GRCm39) |
S188G |
possibly damaging |
Het |
| Fry |
A |
G |
5: 150,346,252 (GRCm39) |
D1587G |
probably benign |
Het |
| Gm43638 |
T |
A |
5: 87,634,473 (GRCm39) |
R45* |
probably null |
Het |
| Gm7647 |
T |
A |
5: 95,111,746 (GRCm39) |
C152S |
probably benign |
Het |
| Golga3 |
T |
G |
5: 110,335,583 (GRCm39) |
M299R |
probably benign |
Het |
| Iqub |
A |
T |
6: 24,501,005 (GRCm39) |
|
probably benign |
Het |
| Jakmip1 |
G |
T |
5: 37,242,750 (GRCm39) |
E13* |
probably null |
Het |
| Morc3 |
G |
A |
16: 93,659,534 (GRCm39) |
C446Y |
probably damaging |
Het |
| Mroh2b |
G |
A |
15: 4,971,024 (GRCm39) |
D1010N |
probably damaging |
Het |
| Or14c44 |
A |
G |
7: 86,061,998 (GRCm39) |
T184A |
probably damaging |
Het |
| Or2y16 |
T |
A |
11: 49,335,201 (GRCm39) |
N174K |
probably damaging |
Het |
| Or5m9 |
A |
T |
2: 85,876,996 (GRCm39) |
M57L |
possibly damaging |
Het |
| Pkhd1 |
G |
A |
1: 20,593,482 (GRCm39) |
H1544Y |
possibly damaging |
Het |
| Rps2-ps10 |
C |
T |
18: 61,392,896 (GRCm39) |
|
probably benign |
Het |
| Smco1 |
T |
C |
16: 32,092,887 (GRCm39) |
V186A |
probably damaging |
Het |
| Snx1 |
C |
T |
9: 66,001,713 (GRCm39) |
E314K |
possibly damaging |
Het |
| Timd2 |
T |
C |
11: 46,567,170 (GRCm39) |
Y255C |
probably benign |
Het |
| Tnc |
A |
T |
4: 63,935,571 (GRCm39) |
I455K |
probably benign |
Het |
| Tsc22d1 |
A |
G |
14: 76,656,181 (GRCm39) |
I31V |
possibly damaging |
Het |
| Tyk2 |
A |
G |
9: 21,031,996 (GRCm39) |
S360P |
probably benign |
Het |
| Uroc1 |
G |
T |
6: 90,335,883 (GRCm39) |
|
probably benign |
Het |
| Vmn1r122 |
A |
T |
7: 20,867,761 (GRCm39) |
V98E |
probably damaging |
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 |
|
|
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 |
|
R0031:Irak3
|
UTSW |
10 |
120,012,225 (GRCm39) |
nonsense |
probably null |
|
|
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 |
2013-06-28 |
Incidental Mutation