Incidental Mutation 'R1486:Irak3'
| ID |
163483 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Irak3
|
| Ensembl Gene |
ENSMUSG00000020227 |
| Gene Name |
interleukin-1 receptor-associated kinase 3 |
| Synonyms |
IRAK-M, 4833428C18Rik |
| MMRRC Submission |
039539-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.530)
|
| Stock # |
R1486 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
119977553-120038035 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 119978966 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 495
(D495G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020448
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020448]
[ENSMUST00000135106]
[ENSMUST00000145665]
|
| AlphaFold |
Q8K4B2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020448
AA Change: D495G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000020448
Gene: ENSMUSG00000020227
AA Change: D495G
| 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 damaging
Transcript: ENSMUST00000145665
AA Change: D403G
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000118038
Gene: ENSMUSG00000020227
AA Change: D403G
| 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 |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 93.1%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A730015C16Rik |
A |
G |
4: 108,705,143 (GRCm39) |
E19G |
probably benign |
Het |
| A730018C14Rik |
T |
C |
12: 112,382,129 (GRCm39) |
|
noncoding transcript |
Het |
| Acrbp |
T |
A |
6: 125,027,585 (GRCm39) |
Y78N |
probably damaging |
Het |
| Adamtsl4 |
T |
C |
3: 95,589,166 (GRCm39) |
S422G |
probably benign |
Het |
| Apba2 |
T |
C |
7: 64,386,696 (GRCm39) |
V429A |
probably damaging |
Het |
| Atf6 |
A |
G |
1: 170,622,260 (GRCm39) |
C454R |
probably damaging |
Het |
| Bhlhe40 |
T |
C |
6: 108,641,890 (GRCm39) |
I278T |
probably damaging |
Het |
| Birc6 |
G |
T |
17: 74,946,815 (GRCm39) |
V2845L |
probably damaging |
Het |
| Card11 |
T |
C |
5: 140,862,274 (GRCm39) |
I1008V |
probably benign |
Het |
| Catsperg1 |
C |
A |
7: 28,884,920 (GRCm39) |
K900N |
probably damaging |
Het |
| Cep20 |
A |
G |
16: 14,118,004 (GRCm39) |
V172A |
probably benign |
Het |
| Chek2 |
T |
G |
5: 110,989,093 (GRCm39) |
|
probably benign |
Het |
| Dnaaf9 |
A |
G |
2: 130,579,338 (GRCm39) |
L633P |
probably damaging |
Het |
| Dnah9 |
A |
T |
11: 65,725,098 (GRCm39) |
S4352T |
probably damaging |
Het |
| Eif3c |
C |
T |
7: 126,163,893 (GRCm39) |
R50Q |
probably damaging |
Het |
| Eml6 |
A |
C |
11: 29,755,114 (GRCm39) |
I887S |
possibly damaging |
Het |
| Gipc1 |
C |
T |
8: 84,387,808 (GRCm39) |
Q63* |
probably null |
Het |
| Grm4 |
A |
G |
17: 27,653,691 (GRCm39) |
L706P |
probably damaging |
Het |
| Itga9 |
T |
G |
9: 118,455,518 (GRCm39) |
V64G |
probably damaging |
Het |
| Iws1 |
T |
C |
18: 32,230,309 (GRCm39) |
I759T |
probably damaging |
Het |
| Kdm3b |
T |
A |
18: 34,967,357 (GRCm39) |
F1721I |
probably damaging |
Het |
| Lrrc8c |
T |
A |
5: 105,755,395 (GRCm39) |
V390E |
probably damaging |
Het |
| Mki67 |
G |
A |
7: 135,301,449 (GRCm39) |
T1195I |
probably benign |
Het |
| Mphosph8 |
C |
T |
14: 56,926,496 (GRCm39) |
T646I |
probably damaging |
Het |
| Ncdn |
A |
T |
4: 126,642,391 (GRCm39) |
V422D |
probably damaging |
Het |
| Nrg1 |
T |
C |
8: 32,308,372 (GRCm39) |
E548G |
probably damaging |
Het |
| Nt5el |
T |
C |
13: 105,246,291 (GRCm39) |
V284A |
probably benign |
Het |
| Nup37 |
T |
C |
10: 87,984,116 (GRCm39) |
Y11H |
probably damaging |
Het |
| Or1ad1 |
G |
A |
11: 50,875,608 (GRCm39) |
V27I |
probably benign |
Het |
| Or51f1e |
A |
T |
7: 102,747,637 (GRCm39) |
I230F |
probably damaging |
Het |
| Or52s19 |
T |
A |
7: 103,008,201 (GRCm39) |
M67L |
possibly damaging |
Het |
| Or8j3c |
T |
A |
2: 86,253,825 (GRCm39) |
H65L |
probably damaging |
Het |
| Pcgf1 |
T |
G |
6: 83,056,107 (GRCm39) |
S70R |
probably damaging |
Het |
| Potefam1 |
T |
G |
2: 111,030,703 (GRCm39) |
Q402P |
possibly damaging |
Het |
| Prps1l3 |
C |
T |
12: 57,285,573 (GRCm39) |
A121V |
probably benign |
Het |
| Rasal1 |
T |
C |
5: 120,792,917 (GRCm39) |
Y57H |
probably damaging |
Het |
| Rbm12b2 |
A |
G |
4: 12,094,841 (GRCm39) |
R567G |
probably benign |
Het |
| Rep15 |
T |
A |
6: 146,934,577 (GRCm39) |
F139I |
probably damaging |
Het |
| Ros1 |
T |
C |
10: 52,048,954 (GRCm39) |
Y92C |
probably damaging |
Het |
| Sin3b |
A |
G |
8: 73,477,141 (GRCm39) |
T803A |
probably benign |
Het |
| Skint11 |
G |
A |
4: 114,052,015 (GRCm39) |
|
probably null |
Het |
| Sobp |
T |
G |
10: 42,898,518 (GRCm39) |
S356R |
probably benign |
Het |
| Spats2l |
T |
C |
1: 57,939,970 (GRCm39) |
I228T |
probably damaging |
Het |
| Sqor |
G |
A |
2: 122,649,565 (GRCm39) |
|
probably null |
Het |
| Stox1 |
T |
C |
10: 62,500,415 (GRCm39) |
D715G |
probably benign |
Het |
| Tln2 |
C |
A |
9: 67,219,121 (GRCm39) |
G275W |
probably damaging |
Het |
| Tmc5 |
C |
T |
7: 118,272,655 (GRCm39) |
P942S |
probably benign |
Het |
| Tor4a |
A |
T |
2: 25,084,691 (GRCm39) |
I404N |
possibly damaging |
Het |
| Ttc3 |
G |
A |
16: 94,248,988 (GRCm39) |
R1162Q |
probably damaging |
Het |
| Zfp451 |
T |
C |
1: 33,816,808 (GRCm39) |
K164E |
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 |
|
|
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGAACACCTCTTCTCCATTGGCTTG -3'
(R):5'- TCAAATTCCTTGATGTGGCTCTCGG -3'
Sequencing Primer
(F):5'- AAGAATGGCCTGGTACTTCC -3'
(R):5'- CTTGATGTGGCTCTCGGAATAAAG -3'
|
| Posted On |
2014-03-28 |
Incidental Mutation