Incidental Mutation 'IGL02054:Irak3'
| ID |
185166 |
| 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 # |
IGL02054
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
119977553-120038035 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 120012164 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 200
(Q200L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123604
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020448]
[ENSMUST00000135106]
[ENSMUST00000145665]
|
| AlphaFold |
Q8K4B2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020448
AA Change: Q200L
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000020448
Gene: ENSMUSG00000020227
AA Change: Q200L
| 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
AA Change: Q200L
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000123604
Gene: ENSMUSG00000020227
AA Change: Q200L
| 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 benign
Transcript: ENSMUST00000145665
AA Change: Q108L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000118038
Gene: ENSMUSG00000020227
AA Change: Q108L
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
G |
T |
11: 110,182,949 (GRCm39) |
P1036Q |
probably damaging |
Het |
| Bag4 |
T |
C |
8: 26,261,253 (GRCm39) |
S163G |
probably benign |
Het |
| Camkk1 |
G |
A |
11: 72,916,708 (GRCm39) |
R102Q |
probably damaging |
Het |
| Caprin1 |
A |
C |
2: 103,602,143 (GRCm39) |
|
probably null |
Het |
| Cct8 |
A |
T |
16: 87,287,364 (GRCm39) |
|
probably benign |
Het |
| Dlgap2 |
A |
G |
8: 14,893,552 (GRCm39) |
M941V |
probably damaging |
Het |
| Dock7 |
C |
T |
4: 98,861,646 (GRCm39) |
R1327Q |
probably damaging |
Het |
| Fhip1b |
A |
G |
7: 105,033,630 (GRCm39) |
S529P |
probably damaging |
Het |
| Gbp9 |
T |
C |
5: 105,230,673 (GRCm39) |
D417G |
probably benign |
Het |
| Gemin2 |
G |
A |
12: 59,068,523 (GRCm39) |
|
probably null |
Het |
| Grk6 |
G |
T |
13: 55,602,210 (GRCm39) |
A346S |
probably benign |
Het |
| Gtf2h1 |
A |
G |
7: 46,464,849 (GRCm39) |
|
probably benign |
Het |
| Irx4 |
A |
G |
13: 73,416,947 (GRCm39) |
T448A |
probably damaging |
Het |
| Iws1 |
T |
C |
18: 32,223,595 (GRCm39) |
|
probably null |
Het |
| Kcnk18 |
G |
A |
19: 59,224,045 (GRCm39) |
|
probably benign |
Het |
| Klk1b11 |
C |
A |
7: 43,648,251 (GRCm39) |
S86Y |
possibly damaging |
Het |
| Lgals7 |
T |
C |
7: 28,565,614 (GRCm39) |
F136S |
probably damaging |
Het |
| Luc7l |
T |
A |
17: 26,498,314 (GRCm39) |
|
probably benign |
Het |
| Mta2 |
T |
A |
19: 8,928,276 (GRCm39) |
V525E |
probably benign |
Het |
| Mtnr1b |
G |
T |
9: 15,785,536 (GRCm39) |
A74E |
possibly damaging |
Het |
| Myo1c |
A |
G |
11: 75,551,962 (GRCm39) |
T354A |
probably benign |
Het |
| Nat1 |
T |
C |
8: 67,944,074 (GRCm39) |
F153S |
probably damaging |
Het |
| Oasl2 |
T |
C |
5: 115,035,867 (GRCm39) |
C48R |
probably damaging |
Het |
| Or4f60 |
T |
G |
2: 111,902,269 (GRCm39) |
I220L |
probably benign |
Het |
| Pkm |
C |
A |
9: 59,585,484 (GRCm39) |
R489S |
probably damaging |
Het |
| Pth2r |
T |
A |
1: 65,375,940 (GRCm39) |
I66N |
probably damaging |
Het |
| Slc25a18 |
T |
C |
6: 120,769,358 (GRCm39) |
|
probably null |
Het |
| Tnip3 |
T |
C |
6: 65,567,595 (GRCm39) |
S2P |
possibly damaging |
Het |
| Vmn2r61 |
T |
C |
7: 41,926,158 (GRCm39) |
|
probably null |
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 |
|
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 |
2014-05-07 |
Incidental Mutation