Mutagenetix > Incidental Mutation

Incidental Mutation 'R9259:Irak4'

702132

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

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.463) question?

Stock #

R9259 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

94441495-94466198 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 94456726 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 303 (H303L)

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: H303L

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

SMART Domains

Protein: ENSMUSP00000074471
Gene: ENSMUSG00000059883
AA Change: H303L

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: H303L

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

SMART Domains

Protein: ENSMUSP00000104871
Gene: ENSMUSG00000059883
AA Change: H303L

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (65/65)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot6	A	G	12: 84,155,816 (GRCm39)	I255V	possibly damaging	Het
Adcy8	A	T	15: 64,576,604 (GRCm39)	I986N	probably damaging	Het
Agr2	T	A	12: 36,053,863 (GRCm39)	M164K	probably damaging	Het
Akap11	G	A	14: 78,749,949 (GRCm39)	H813Y		Het
Alas1	A	T	9: 106,118,835 (GRCm39)	S195T	probably benign	Het
Aldoart1	T	C	4: 72,770,680 (GRCm39)	T43A	probably benign	Het
Alms1	A	G	6: 85,644,873 (GRCm39)	D2537G	possibly damaging	Het
Alpk3	A	G	7: 80,743,302 (GRCm39)	T1040A	probably damaging	Het
Ankrd16	T	C	2: 11,784,532 (GRCm39)	I120T	probably damaging	Het
Anks4b	A	G	7: 119,773,278 (GRCm39)	E46G	probably benign	Het
Ap3d1	A	T	10: 80,559,661 (GRCm39)	V199E	probably damaging	Het
Atp1a3	A	G	7: 24,696,956 (GRCm39)	S236P	probably damaging	Het
Atp5mc2	T	A	15: 102,571,561 (GRCm39)	N110I	probably damaging	Het
Cabin1	A	G	10: 75,582,576 (GRCm39)	M280T	probably benign	Het
Cdc5l	T	C	17: 45,736,817 (GRCm39)	T134A	possibly damaging	Het
Clec4n	C	A	6: 123,212,424 (GRCm39)	P80Q	probably damaging	Het
Clip3	A	G	7: 29,998,375 (GRCm39)	K274E	probably benign	Het
Cntrob	A	T	11: 69,211,665 (GRCm39)	D186E	possibly damaging	Het
Cplane1	T	C	15: 8,232,787 (GRCm39)	V1102A	possibly damaging	Het
Dcun1d3	A	G	7: 119,457,052 (GRCm39)	V220A	probably benign	Het
Emsy	A	T	7: 98,242,757 (GRCm39)	N1127K	probably benign	Het
Entpd2	C	T	2: 25,288,614 (GRCm39)	S206L	probably damaging	Het
Fgd4	T	C	16: 16,295,325 (GRCm39)	E218G	probably damaging	Het
Fkbp2	G	T	19: 6,955,960 (GRCm39)	Q82K	probably benign	Het
Gpr161	T	C	1: 165,138,025 (GRCm39)	Y204H	probably damaging	Het
Grip1	G	A	10: 119,874,569 (GRCm39)	E778K	possibly damaging	Het
Gstt2	C	T	10: 75,669,511 (GRCm39)	D59N	possibly damaging	Het
Havcr1	A	T	11: 46,661,318 (GRCm39)	D206V	probably damaging	Het
Hoxb9	G	A	11: 96,162,762 (GRCm39)	G132D	probably damaging	Het
Ifi44	C	T	3: 151,454,875 (GRCm39)	V117M	possibly damaging	Het
Inhbe	A	G	10: 127,186,844 (GRCm39)	F112S	probably damaging	Het
Iqgap2	A	T	13: 95,766,561 (GRCm39)	Y1481N	probably damaging	Het
Kdm5d	A	G	Y: 942,640 (GRCm39)	E1435G	possibly damaging	Het
Kifc1	G	T	17: 34,101,165 (GRCm39)	T599K	possibly damaging	Het
Klhl38	T	C	15: 58,186,471 (GRCm39)	E86G	probably benign	Het
Mcub	G	C	3: 129,720,070 (GRCm39)	T141R	probably benign	Het
Moxd2	A	T	6: 40,860,969 (GRCm39)	V274D	probably damaging	Het
Nol6	C	T	4: 41,118,229 (GRCm39)	V803M	possibly damaging	Het
Or8b51	C	T	9: 38,569,642 (GRCm39)		probably benign	Het
Ovgp1	T	C	3: 105,893,883 (GRCm39)		probably benign	Het
Pbld1	A	G	10: 62,897,436 (GRCm39)	T46A	possibly damaging	Het
Peli3	T	C	19: 4,984,486 (GRCm39)	D192G	probably benign	Het
Perm1	C	T	4: 156,303,607 (GRCm39)	T717I	probably benign	Het
Pim1	G	A	17: 29,710,181 (GRCm39)	A22T	probably benign	Het
Pkp2	C	T	16: 16,043,714 (GRCm39)	P156L	probably damaging	Het
Ppwd1	G	A	13: 104,359,612 (GRCm39)	R130C	probably damaging	Het
Prdm16	C	A	4: 154,430,525 (GRCm39)	W321L	possibly damaging	Het
Ptprd	T	A	4: 75,990,200 (GRCm39)	D504V	probably damaging	Het
Pusl1	T	C	4: 155,975,639 (GRCm39)	T65A	probably damaging	Het
Rtcb	A	G	10: 85,774,925 (GRCm39)	I490T	probably damaging	Het
Sec31b	G	T	19: 44,505,855 (GRCm39)	L967I	probably damaging	Het
Sec63	A	C	10: 42,699,937 (GRCm39)	M666L	probably benign	Het
Sh3rf1	G	C	8: 61,806,838 (GRCm39)	A379P	probably benign	Het
Slc7a12	T	A	3: 14,546,376 (GRCm39)	L174I	probably damaging	Het
Sptbn4	C	T	7: 27,067,124 (GRCm39)	S1935N	possibly damaging	Het
Susd6	A	T	12: 80,898,030 (GRCm39)	Q55L	probably benign	Het
Tecpr2	A	G	12: 110,897,867 (GRCm39)	E373G	possibly damaging	Het
Tent5c	T	C	3: 100,379,640 (GRCm39)	Y372C	probably damaging	Het
Tm6sf2	A	T	8: 70,530,585 (GRCm39)	I222L	probably benign	Het
Tsc22d1	T	A	14: 76,654,484 (GRCm39)	V321E	probably damaging	Het
Tspoap1	A	G	11: 87,670,350 (GRCm39)	N172S		Het
Unc13d	AATGCCTCCCATGCC	AATGCCTCCCATGCCTCCCATGCC	11: 115,958,998 (GRCm39)		probably benign	Het
Vcan	G	A	13: 89,838,989 (GRCm39)	S2185F	probably damaging	Het
Wapl	G	T	14: 34,463,052 (GRCm39)	V1131L	probably benign	Het
Zfp658	A	G	7: 43,224,280 (GRCm39)	M852V	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
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
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
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'- AAAATTGGGTCCCTTAGTGATGC -3'
(R):5'- GGTCATGGACATTGGAACACC -3'

Sequencing Primer
(F):5'- GGGTCCCTTAGTGATGCATCCC -3'
(R):5'- ACCAGGGATCACAGGTGTCTG -3'

Posted On

2022-03-25