Incidental Mutation 'R6390:Irak4'
| ID |
515737 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Irak4
|
| Ensembl Gene |
ENSMUSG00000059883 |
| Gene Name |
interleukin-1 receptor-associated kinase 4 |
| Synonyms |
9330209D03Rik, 8430405M07Rik, IRAK-4, NY-REN-64 |
| MMRRC Submission |
044539-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.463)
|
| Stock # |
R6390 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
94441495-94466198 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 94459367 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 328
(S328P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104871
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074936]
[ENSMUST00000109248]
|
| AlphaFold |
Q8R4K2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000074936
AA Change: S328P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000074471
Gene: ENSMUSG00000059883
AA Change: S328P
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1WH4|A
|
1 |
114 |
1e-78 |
PDB |
|
Pfam:Pkinase_Tyr
|
187 |
454 |
3.3e-53 |
PFAM |
|
Pfam:Pkinase
|
187 |
456 |
4.9e-53 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109248
AA Change: S328P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104871
Gene: ENSMUSG00000059883
AA Change: S328P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Death
|
20 |
101 |
1.6e-6 |
PFAM |
|
Pfam:Pkinase_Tyr
|
187 |
452 |
1.9e-51 |
PFAM |
|
Pfam:Pkinase
|
188 |
452 |
1.3e-54 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138306
|
| Meta Mutation Damage Score |
0.6481 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.4%
|
| Validation Efficiency |
100% (29/29) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a kinase that activates NF-kappaB in both the Toll-like receptor (TLR) and T-cell receptor (TCR) signaling pathways. The protein is essential for most innate immune responses. Mutations in this gene result in IRAK4 deficiency and recurrent invasive pneumococcal disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
PHENOTYPE: Homozygous mutant mice exhibit defects of the innate immune system and show increased susceptibility to bacterial infection. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(6) : Targeted(5) Chemically induced(1)
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atg9a |
G |
T |
1: 75,164,625 (GRCm39) |
P113Q |
probably damaging |
Het |
| Ccdc150 |
A |
G |
1: 54,407,176 (GRCm39) |
D1073G |
probably benign |
Het |
| Cd8a |
A |
G |
6: 71,350,913 (GRCm39) |
Y126C |
probably damaging |
Het |
| Cdca8 |
A |
G |
4: 124,830,168 (GRCm39) |
M68T |
probably damaging |
Het |
| Cyp2d26 |
G |
A |
15: 82,676,825 (GRCm39) |
P174S |
possibly damaging |
Het |
| Dnai3 |
A |
G |
3: 145,801,143 (GRCm39) |
L105P |
probably damaging |
Het |
| Esco1 |
T |
G |
18: 10,567,528 (GRCm39) |
N311H |
probably damaging |
Het |
| Evx1 |
A |
G |
6: 52,292,842 (GRCm39) |
M183V |
probably benign |
Het |
| Fam111a |
T |
G |
19: 12,565,524 (GRCm39) |
Y424* |
probably null |
Het |
| Fat4 |
T |
C |
3: 39,034,529 (GRCm39) |
I2727T |
probably damaging |
Het |
| Ggt6 |
T |
A |
11: 72,327,437 (GRCm39) |
Y107N |
possibly damaging |
Het |
| Habp2 |
G |
C |
19: 56,295,255 (GRCm39) |
E49Q |
possibly damaging |
Het |
| Hibadh |
A |
C |
6: 52,533,474 (GRCm39) |
L214R |
probably damaging |
Het |
| Ift57 |
T |
G |
16: 49,582,836 (GRCm39) |
|
probably null |
Het |
| Krtap6-2 |
A |
T |
16: 89,216,834 (GRCm39) |
Y44* |
probably null |
Het |
| Lrrc46 |
T |
C |
11: 96,931,757 (GRCm39) |
T22A |
probably damaging |
Het |
| Muc2 |
G |
T |
7: 141,305,883 (GRCm39) |
V230L |
probably damaging |
Het |
| Ncan |
T |
C |
8: 70,567,899 (GRCm39) |
D71G |
probably benign |
Het |
| Nsd2 |
T |
C |
5: 34,038,525 (GRCm39) |
S779P |
probably damaging |
Het |
| Rps6ka5 |
G |
T |
12: 100,537,251 (GRCm39) |
T493K |
probably damaging |
Het |
| Slc6a21 |
A |
T |
7: 44,936,426 (GRCm39) |
M135L |
probably benign |
Het |
| Sprtn |
A |
G |
8: 125,629,958 (GRCm39) |
N417S |
probably benign |
Het |
| Trim61 |
T |
A |
8: 65,466,842 (GRCm39) |
M140L |
probably benign |
Het |
| Vars1 |
C |
A |
17: 35,234,615 (GRCm39) |
A1148E |
probably benign |
Het |
| Vmn2r106 |
C |
T |
17: 20,488,725 (GRCm39) |
C558Y |
probably damaging |
Het |
| Vmn2r112 |
T |
C |
17: 22,824,230 (GRCm39) |
V495A |
probably benign |
Het |
| Vmn2r117 |
A |
T |
17: 23,679,088 (GRCm39) |
V712E |
possibly damaging |
Het |
| Wdfy4 |
T |
C |
14: 32,826,051 (GRCm39) |
D1200G |
probably damaging |
Het |
| Zbtb6 |
A |
T |
2: 37,318,690 (GRCm39) |
S413T |
probably benign |
Het |
| Zp2 |
G |
T |
7: 119,740,453 (GRCm39) |
N170K |
probably benign |
Het |
|
| Other mutations in Irak4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00679:Irak4
|
APN |
15 |
94,454,509 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL00688:Irak4
|
APN |
15 |
94,464,744 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL01870:Irak4
|
APN |
15 |
94,445,751 (GRCm39) |
missense |
probably benign |
0.28 |
|
IGL02740:Irak4
|
APN |
15 |
94,464,925 (GRCm39) |
makesense |
probably null |
|
|
IGL02897:Irak4
|
APN |
15 |
94,451,872 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03290:Irak4
|
APN |
15 |
94,449,780 (GRCm39) |
missense |
probably benign |
0.01 |
|
otiose
|
UTSW |
15 |
94,459,365 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0057:Irak4
|
UTSW |
15 |
94,451,753 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2010:Irak4
|
UTSW |
15 |
94,449,687 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3751:Irak4
|
UTSW |
15 |
94,459,476 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3752:Irak4
|
UTSW |
15 |
94,459,476 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3753:Irak4
|
UTSW |
15 |
94,459,476 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3973:Irak4
|
UTSW |
15 |
94,452,621 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4687:Irak4
|
UTSW |
15 |
94,464,704 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4704:Irak4
|
UTSW |
15 |
94,464,781 (GRCm39) |
splice site |
probably null |
|
|
R5001:Irak4
|
UTSW |
15 |
94,456,154 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5392:Irak4
|
UTSW |
15 |
94,454,566 (GRCm39) |
missense |
probably benign |
0.39 |
|
R5392:Irak4
|
UTSW |
15 |
94,454,565 (GRCm39) |
missense |
probably benign |
|
|
R6280:Irak4
|
UTSW |
15 |
94,449,691 (GRCm39) |
nonsense |
probably null |
|
|
R7643:Irak4
|
UTSW |
15 |
94,456,709 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8209:Irak4
|
UTSW |
15 |
94,456,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8222:Irak4
|
UTSW |
15 |
94,459,110 (GRCm39) |
splice site |
probably null |
|
|
R8226:Irak4
|
UTSW |
15 |
94,456,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8512:Irak4
|
UTSW |
15 |
94,464,659 (GRCm39) |
missense |
probably benign |
|
|
R8678:Irak4
|
UTSW |
15 |
94,464,666 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9259:Irak4
|
UTSW |
15 |
94,456,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9287:Irak4
|
UTSW |
15 |
94,460,917 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9685:Irak4
|
UTSW |
15 |
94,451,812 (GRCm39) |
missense |
probably benign |
0.22 |
|
V8831:Irak4
|
UTSW |
15 |
94,459,365 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0019:Irak4
|
UTSW |
15 |
94,451,881 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0027:Irak4
|
UTSW |
15 |
94,449,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCACATATAAAATGACACACAATGTG -3'
(R):5'- AAAGACTCATGCACCAAAATATTCT -3'
Sequencing Primer
(F):5'- CTGTTGGATATCCTAGGCA -3'
(R):5'- GCTTAGCAAAGTAAAGGCTCCTGC -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation