Mutagenetix > Incidental Mutation

Incidental Mutation 'R8226:Irak4'

637008

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

067643-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.543) question?

Stock #

R8226 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

94441495-94466198 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 94456244 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 277 (L277Q)

Ref Sequence

ENSEMBL: ENSMUSP00000074471 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074936] [ENSMUST00000109248]

AlphaFold

Q8R4K2

PDB Structure

Solution structure of the DEATH domain of Interleukin-1 receptor-associated kinase4 (IRAK4) from Mus musculus [SOLUTION NMR]
Molecular Structure of the Interleukin-1 Receptor-Associated Kinase-4 Death Domain [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000074936
AA Change: L277Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000074471
Gene: ENSMUSG00000059883
AA Change: L277Q

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: L277Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000104871
Gene: ENSMUSG00000059883
AA Change: L277Q

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.2%
20x: 97.7%

Validation Efficiency

100% (54/54)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	A	G	10: 29,094,195 (GRCm39)	N27S	probably damaging	Het
Abcb1b	T	A	5: 8,871,390 (GRCm39)	Y315N	probably damaging	Het
Acy1	A	G	9: 106,314,857 (GRCm39)	I22T	probably damaging	Het
Akap11	G	A	14: 78,748,649 (GRCm39)	T1246M		Het
Akr1b1	G	C	6: 34,288,867 (GRCm39)	T114R	probably damaging	Het
Apob	G	A	12: 8,059,056 (GRCm39)	V2513I	probably benign	Het
Arhgap21	C	T	2: 20,876,556 (GRCm39)	D820N	probably damaging	Het
Arl2	A	T	19: 6,187,506 (GRCm39)		probably null	Het
Bmp5	C	T	9: 75,683,606 (GRCm39)	P78S	probably damaging	Het
Cic	T	C	7: 24,987,213 (GRCm39)	C1374R	probably damaging	Het
Dennd5b	T	C	6: 148,915,746 (GRCm39)		probably null	Het
Dhx36	A	G	3: 62,377,991 (GRCm39)	Y1000H	probably benign	Het
Dnah14	A	G	1: 181,623,110 (GRCm39)	E3996G	possibly damaging	Het
Efcab6	T	C	15: 83,788,456 (GRCm39)	Y946C	probably benign	Het
Egfem1	A	G	3: 29,711,404 (GRCm39)	K328E	probably damaging	Het
F5	T	C	1: 164,021,959 (GRCm39)	V1478A	probably benign	Het
Fchsd2	C	T	7: 100,931,679 (GRCm39)	P745L	probably damaging	Het
Grb10	G	T	11: 11,901,533 (GRCm39)	L214M	probably damaging	Het
H6pd	A	G	4: 150,080,446 (GRCm39)	V133A	probably benign	Het
Krt78	A	T	15: 101,855,480 (GRCm39)	M777K	possibly damaging	Het
Lrch4	A	G	5: 137,637,997 (GRCm39)	H93R		Het
Lrrc38	G	A	4: 143,077,303 (GRCm39)	G189R	probably damaging	Het
Mga	A	G	2: 119,790,866 (GRCm39)	I2251V	probably benign	Het
Mtx3	A	G	13: 92,984,215 (GRCm39)	E164G	possibly damaging	Het
Muc21	T	C	17: 35,930,599 (GRCm39)		probably benign	Het
Nbeal1	A	T	1: 60,316,336 (GRCm39)	K1846N	probably damaging	Het
Nedd1	T	A	10: 92,527,797 (GRCm39)	M466L	probably benign	Het
Nr4a3	A	T	4: 48,056,588 (GRCm39)	K380M	probably damaging	Het
Nup107	T	C	10: 117,593,836 (GRCm39)	K786E	probably benign	Het
Or51f23b	T	C	7: 102,402,950 (GRCm39)	Y62C	probably benign	Het
Or5ak25	T	A	2: 85,268,981 (GRCm39)	I174F	probably damaging	Het
Or5m12	T	C	2: 85,734,547 (GRCm39)	I284V	probably benign	Het
Or5v1	A	T	17: 37,809,560 (GRCm39)	Q6L	probably benign	Het
Pira13	A	C	7: 3,828,109 (GRCm39)	L66R		Het
Pkhd1l1	A	G	15: 44,437,803 (GRCm39)	N3533D	possibly damaging	Het
Plpp1	A	T	13: 113,003,465 (GRCm39)	T230S	probably benign	Het
Plxnc1	A	C	10: 94,669,230 (GRCm39)	D1063E	possibly damaging	Het
Pramel20	T	G	4: 143,298,530 (GRCm39)	Y158D	probably benign	Het
Prokr2	C	A	2: 132,215,961 (GRCm39)	A167S	probably damaging	Het
Qser1	C	T	2: 104,619,070 (GRCm39)	A491T	probably benign	Het
Rc3h2	T	A	2: 37,267,001 (GRCm39)	Y1040F	possibly damaging	Het
Rgl2	C	T	17: 34,151,501 (GRCm39)	L182F	possibly damaging	Het
Rnf130	T	C	11: 49,962,097 (GRCm39)	V181A	probably benign	Het
Scd4	A	G	19: 44,322,572 (GRCm39)	D55G	probably benign	Het
Scn7a	T	G	2: 66,531,204 (GRCm39)	I558L	possibly damaging	Het
Serpinb7	G	A	1: 107,375,980 (GRCm39)		probably null	Het
Shtn1	T	C	19: 58,992,328 (GRCm39)	I417V	possibly damaging	Het
Svs3b	T	A	2: 164,098,140 (GRCm39)	E60D	possibly damaging	Het
Tex14	T	C	11: 87,375,585 (GRCm39)	I116T	probably damaging	Het
Trak1	C	T	9: 121,280,793 (GRCm39)	T394I	probably benign	Het
Trhde	C	T	10: 114,403,133 (GRCm39)	V497M	probably damaging	Het
Trpc2	A	G	7: 101,737,482 (GRCm39)	M425V	possibly damaging	Het
Trpm2	C	T	10: 77,783,807 (GRCm39)	R222Q	probably damaging	Het
Tuba1b	C	T	15: 98,829,591 (GRCm39)	G410S	probably benign	Het
Usp28	T	G	9: 48,926,697 (GRCm39)		probably null	Het
Vps13d	T	C	4: 144,875,860 (GRCm39)	Y1555C		Het
Wdr17	T	A	8: 55,146,155 (GRCm39)	N106Y	possibly damaging	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
R6390:Irak4	UTSW	15	94,459,367 (GRCm39)	missense	probably damaging	1.00
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
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'- AGGCAGGTATCTCCTAGATCTTTCC -3'
(R):5'- CAACATCTAGCCTTGGCTGATG -3'

Sequencing Primer
(F):5'- AAATTCTTAAATCTAGTAACCCCTGC -3'
(R):5'- CCTTGGCTGATGCGTCTGC -3'

Posted On

2020-07-13