Mutagenetix > Incidental Mutation

Incidental Mutation 'R3973:Irak4'

312961

Institutional Source

Beutler Lab

Gene Symbol

Irak4

Ensembl Gene

ENSMUSG00000059883

Gene Name

interleukin-1 receptor-associated kinase 4

Synonyms

IRAK-4, 8430405M07Rik, NY-REN-64, 9330209D03Rik

MMRRC Submission

040841-MU

Accession Numbers

Ncbi RefSeq: NM_029926; VEGA: OTTMUST00000040437; MGI: 2182474

Essential gene?

Possibly essential (E-score: 0.616) question?

Stock #

R3973 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

94543643-94581815 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 94554740 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 182 (E182G)

Ref Sequence

ENSEMBL: ENSMUSP00000104871 (fasta)

Gene Model

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

AlphaFold

Q8R4K2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000074936
AA Change: E182G

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000074471
Gene: ENSMUSG00000059883
AA Change: E182G

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

possibly damaging
Transcript: ENSMUST00000109248
AA Change: E182G

PolyPhen 2 Score 0.729 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000104871
Gene: ENSMUSG00000059883
AA Change: E182G

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

0.1739

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 93.3%

Validation Efficiency

98% (61/62)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	T	C	4: 147,945,031	I486T	probably damaging	Het
4921501E09Rik	A	T	17: 33,066,431	S466T	probably benign	Het
4933427D14Rik	T	C	11: 72,198,741	R106G	probably damaging	Het
Cfap54	A	G	10: 92,839,471	S2863P	possibly damaging	Het
Copa	T	A	1: 172,121,245	S1155T	probably benign	Het
Crot	T	C	5: 8,977,541	T264A	probably benign	Het
Ddx3y	G	A	Y: 1,267,170	A232V	probably damaging	Het
Dst	T	G	1: 34,011,898	V25G	probably benign	Het
Ehbp1	C	T	11: 22,137,867	A406T	probably benign	Het
Eml5	A	T	12: 98,802,465		probably benign	Het
Eps8	A	T	6: 137,509,155	M453K	probably benign	Het
Galnt3	T	C	2: 66,107,030	D112G	possibly damaging	Het
Glra4	C	T	X: 136,762,793	A336T	probably damaging	Het
Gmppb	A	G	9: 108,050,139	D95G	probably benign	Het
Gprc6a	T	C	10: 51,628,448	Y100C	possibly damaging	Het
Gpx6	C	A	13: 21,317,658	S150Y	probably damaging	Het
Hsd17b3	A	T	13: 64,059,486	V247D	probably damaging	Het
Htr7	T	C	19: 36,056,760	D165G	probably damaging	Het
Igha	T	C	12: 113,256,352		probably benign	Het
Igsf10	A	G	3: 59,331,924	C279R	probably damaging	Het
Lipo3	A	T	19: 33,558,323	V274E	probably damaging	Het
Lrpprc	A	C	17: 84,770,841		probably null	Het
Mast1	T	C	8: 84,918,764	Y684C	probably damaging	Het
Mdn1	T	C	4: 32,722,363	F2382L	probably benign	Het
Mepe	C	T	5: 104,337,078	P28L	probably benign	Het
Mrgpra3	T	A	7: 47,589,666	I171F	probably benign	Het
Muc2	T	A	7: 141,746,804		probably benign	Het
Myh3	C	T	11: 67,096,436	Q1371*	probably null	Het
Nodal	T	A	10: 61,423,054	V90E	probably benign	Het
Npas4	A	T	19: 4,986,551	H528Q	probably benign	Het
Nt5dc3	T	C	10: 86,824,236	V382A	probably damaging	Het
Pcdh18	G	A	3: 49,754,586	T293I	probably damaging	Het
Phf20l1	A	G	15: 66,641,816	D947G	probably damaging	Het
Pla2r1	A	G	2: 60,448,962	V758A	probably benign	Het
Plod2	G	T	9: 92,598,619	G422*	probably null	Het
Ppp1r12a	T	C	10: 108,253,480	V660A	probably benign	Het
Prdm6	T	C	18: 53,540,206	I186T	possibly damaging	Het
Prkd3	G	A	17: 78,959,141		probably benign	Het
Prrc2a	A	G	17: 35,157,932	L734P	probably damaging	Het
Rnf128	C	A	X: 139,664,522	L282I	probably damaging	Het
Rnf213	A	G	11: 119,469,053	N4424S		Het
Scrn3	T	C	2: 73,335,777	S385P	possibly damaging	Het
Serpina1d	A	T	12: 103,767,848	S66T	probably benign	Het
Setd3	T	C	12: 108,165,158	K3R	possibly damaging	Het
Slc2a7	A	G	4: 150,158,210		probably null	Het
Smad4	G	T	18: 73,677,736	T59K	possibly damaging	Het
Spc25	A	G	2: 69,202,601	L60P	probably damaging	Het
Stam	A	C	2: 14,138,961	H354P	probably damaging	Het
Tesk1	C	T	4: 43,445,786	P280S	possibly damaging	Het
Tmem120a	C	G	5: 135,736,277	R254P	probably benign	Het
Traf5	T	C	1: 191,997,876	T405A	probably benign	Het
Trav7-4	A	G	14: 53,461,662	S89G	probably benign	Het
Tsc22d1	T	C	14: 76,418,609	S761P	probably damaging	Het
Ugt1a10	C	A	1: 88,216,140	H361N	probably damaging	Het
Ugt2b1	C	A	5: 86,917,675	V502L	probably benign	Het
Vip	T	A	10: 5,642,590	S77T	possibly damaging	Het
Wdr72	A	T	9: 74,218,697	M1025L	probably benign	Het
Zfp541	A	G	7: 16,072,222	D94G	probably damaging	Het

Other mutations in Irak4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00679:Irak4	APN	15	94556628	missense	probably benign	0.09
IGL00688:Irak4	APN	15	94566863	missense	possibly damaging	0.68
IGL01870:Irak4	APN	15	94547870	missense	probably benign	0.28
IGL02740:Irak4	APN	15	94567044	makesense	probably null
IGL02897:Irak4	APN	15	94553991	missense	probably benign	0.00
IGL03290:Irak4	APN	15	94551899	missense	probably benign	0.01
otiose	UTSW	15	94561484	missense	probably damaging	1.00
R0057:Irak4	UTSW	15	94553872	missense	probably benign	0.00
R2010:Irak4	UTSW	15	94551806	missense	probably damaging	1.00
R3751:Irak4	UTSW	15	94561595	missense	probably damaging	1.00
R3752:Irak4	UTSW	15	94561595	missense	probably damaging	1.00
R3753:Irak4	UTSW	15	94561595	missense	probably damaging	1.00
R4687:Irak4	UTSW	15	94566823	missense	probably damaging	1.00
R4704:Irak4	UTSW	15	94566900	splice site	probably null
R5001:Irak4	UTSW	15	94558273	missense	possibly damaging	0.91
R5392:Irak4	UTSW	15	94556684	missense	probably benign
R5392:Irak4	UTSW	15	94556685	missense	probably benign	0.39
R6280:Irak4	UTSW	15	94551810	nonsense	probably null
R6390:Irak4	UTSW	15	94561486	missense	probably damaging	1.00
R7643:Irak4	UTSW	15	94558828	missense	probably benign	0.05
R8209:Irak4	UTSW	15	94558363	missense	probably damaging	1.00
R8222:Irak4	UTSW	15	94561229	splice site	probably null
R8226:Irak4	UTSW	15	94558363	missense	probably damaging	1.00
R8512:Irak4	UTSW	15	94566778	missense	probably benign
R8678:Irak4	UTSW	15	94566785	missense	probably benign	0.06
R9259:Irak4	UTSW	15	94558845	missense	probably damaging	1.00
R9287:Irak4	UTSW	15	94563036	missense	possibly damaging	0.93
R9685:Irak4	UTSW	15	94553931	missense	probably benign	0.22
V8831:Irak4	UTSW	15	94561484	missense	probably damaging	1.00
X0019:Irak4	UTSW	15	94554000	missense	probably benign	0.00
X0027:Irak4	UTSW	15	94551930	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGGGAATTGTAATGAAGGTTACACC -3'
(R):5'- CCTGTAGAGAGTAATCACTGGG -3'

Sequencing Primer
(F):5'- ACACCCTGTATTTCATGTGAGTG -3'
(R):5'- GAGTAATCACTGGGATAATGAATCC -3'

Posted On

2015-04-30