Incidental Mutation 'R8673:Irak3'
| ID |
661267 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Irak3
|
| Ensembl Gene |
ENSMUSG00000020227 |
| Gene Name |
interleukin-1 receptor-associated kinase 3 |
| Synonyms |
IRAK-M, 4833428C18Rik |
| MMRRC Submission |
068528-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.530)
|
| Stock # |
R8673 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
119977553-120038035 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 119982493 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 323
(T323K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020448
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020448]
[ENSMUST00000135106]
[ENSMUST00000145665]
|
| AlphaFold |
Q8K4B2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020448
AA Change: T323K
PolyPhen 2
Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000020448
Gene: ENSMUSG00000020227
AA Change: T323K
| 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 |
possibly damaging
Transcript: ENSMUST00000145665
AA Change: T231K
PolyPhen 2
Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000118038
Gene: ENSMUSG00000020227
AA Change: T231K
| 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 |
0.1712 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
98% (50/51) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700067P10Rik |
G |
T |
17: 48,400,849 (GRCm39) |
E45* |
probably null |
Het |
| Anxa9 |
C |
T |
3: 95,207,657 (GRCm39) |
R250Q |
probably benign |
Het |
| Apaf1 |
A |
G |
10: 90,831,530 (GRCm39) |
S1195P |
probably damaging |
Het |
| Baiap2l1 |
T |
A |
5: 144,212,852 (GRCm39) |
|
probably benign |
Het |
| Bpifb6 |
G |
T |
2: 153,747,212 (GRCm39) |
C172F |
probably damaging |
Het |
| Ccdc9 |
A |
T |
7: 16,018,286 (GRCm39) |
D7E |
probably damaging |
Het |
| Cdcp3 |
A |
T |
7: 130,844,846 (GRCm39) |
I580F |
probably damaging |
Het |
| Chchd6 |
T |
A |
6: 89,546,380 (GRCm39) |
S109C |
probably damaging |
Het |
| Cltc |
G |
A |
11: 86,648,201 (GRCm39) |
|
probably benign |
Het |
| Col4a6 |
G |
A |
X: 140,017,173 (GRCm39) |
P60L |
probably damaging |
Het |
| Cxxc1 |
C |
T |
18: 74,351,915 (GRCm39) |
T264I |
probably benign |
Het |
| D5Ertd579e |
A |
G |
5: 36,830,151 (GRCm39) |
S58P |
probably benign |
Het |
| Dlgap1 |
T |
A |
17: 71,122,293 (GRCm39) |
H907Q |
probably damaging |
Het |
| Dnah2 |
A |
T |
11: 69,405,523 (GRCm39) |
M663K |
probably benign |
Het |
| Dock8 |
G |
A |
19: 25,160,867 (GRCm39) |
M1791I |
probably damaging |
Het |
| Esd |
T |
C |
14: 74,969,952 (GRCm39) |
F8S |
probably benign |
Het |
| Etnk2 |
T |
C |
1: 133,302,300 (GRCm39) |
Y273H |
probably damaging |
Het |
| Fry |
C |
A |
5: 150,318,576 (GRCm39) |
H935Q |
possibly damaging |
Het |
| Gabrr3 |
T |
G |
16: 59,235,633 (GRCm39) |
M45R |
possibly damaging |
Het |
| Gata4 |
T |
C |
14: 63,478,258 (GRCm39) |
T114A |
probably benign |
Het |
| Gcnt4 |
G |
A |
13: 97,082,997 (GRCm39) |
D98N |
probably benign |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Igkv1-99 |
C |
T |
6: 68,519,387 (GRCm39) |
Q115* |
probably null |
Het |
| Lrp2 |
T |
C |
2: 69,302,804 (GRCm39) |
D2975G |
probably damaging |
Het |
| Mybph |
T |
A |
1: 134,126,142 (GRCm39) |
W319R |
probably damaging |
Het |
| Nell1 |
A |
G |
7: 49,869,343 (GRCm39) |
D206G |
probably damaging |
Het |
| Or10ag55-ps1 |
A |
T |
2: 87,114,658 (GRCm39) |
D8V |
probably benign |
Het |
| Or4c105 |
T |
C |
2: 88,647,590 (GRCm39) |
V25A |
probably benign |
Het |
| Or5b114-ps1 |
T |
C |
19: 13,352,581 (GRCm39) |
I85T |
probably benign |
Het |
| Pex1 |
A |
C |
5: 3,685,886 (GRCm39) |
D1209A |
possibly damaging |
Het |
| Phf10 |
T |
C |
17: 15,170,868 (GRCm39) |
D355G |
probably benign |
Het |
| Psmd2 |
T |
C |
16: 20,475,638 (GRCm39) |
S413P |
probably damaging |
Het |
| Ptgir |
G |
T |
7: 16,641,287 (GRCm39) |
C193F |
probably damaging |
Het |
| Rad21l |
A |
G |
2: 151,502,718 (GRCm39) |
I164T |
possibly damaging |
Het |
| Ralgapb |
G |
A |
2: 158,292,133 (GRCm39) |
R773H |
probably damaging |
Het |
| Rasgef1b |
G |
T |
5: 99,370,844 (GRCm39) |
N385K |
probably damaging |
Het |
| Shank3 |
C |
T |
15: 89,433,979 (GRCm39) |
R1575C |
probably damaging |
Het |
| Slc7a2 |
G |
T |
8: 41,365,446 (GRCm39) |
|
probably benign |
Het |
| Spata1 |
T |
A |
3: 146,181,079 (GRCm39) |
N293I |
probably damaging |
Het |
| Spen |
C |
T |
4: 141,197,681 (GRCm39) |
A3396T |
probably benign |
Het |
| Sphkap |
T |
C |
1: 83,253,561 (GRCm39) |
H1396R |
probably benign |
Het |
| Spire2 |
A |
G |
8: 124,086,867 (GRCm39) |
E446G |
probably damaging |
Het |
| Tdpoz2 |
A |
T |
3: 93,558,918 (GRCm39) |
C351* |
probably null |
Het |
| Thoc5 |
G |
A |
11: 4,876,061 (GRCm39) |
V605I |
possibly damaging |
Het |
| Ttll2 |
C |
T |
17: 7,619,340 (GRCm39) |
V196I |
possibly damaging |
Het |
| Uba6 |
A |
G |
5: 86,284,178 (GRCm39) |
Y576H |
probably damaging |
Het |
| Vegfb |
G |
A |
19: 6,962,812 (GRCm39) |
P188L |
unknown |
Het |
| Vmn1r62 |
A |
G |
7: 5,678,277 (GRCm39) |
|
probably benign |
Het |
| Vmn2r73 |
T |
A |
7: 85,521,902 (GRCm39) |
T146S |
probably benign |
Het |
| Wdr64 |
A |
G |
1: 175,633,584 (GRCm39) |
Y945C |
probably damaging |
Het |
| Zfp870 |
C |
T |
17: 33,101,904 (GRCm39) |
C475Y |
probably damaging |
Het |
| Zfp958 |
A |
T |
8: 4,678,268 (GRCm39) |
T98S |
possibly 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 |
|
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 |
|
X0023:Irak3
|
UTSW |
10 |
119,979,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACTGCTGTCGGGATTTAGAGC -3'
(R):5'- AGGTTTGAATTTGTACTCGCTCAAG -3'
Sequencing Primer
(F):5'- GCAGTGAATACTCTTCCGTAGCTAG -3'
(R):5'- ACTCGCTCAAGGGGATCTATG -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation