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

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

MMRRC Submission

040841-MU

Accession Numbers

Essential gene?

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

Stock #

R3973 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

94441495-94466198 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 94452621 bp (GRCm39)

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: 148,029,488 (GRCm39)	I486T	probably damaging	Het
4933427D14Rik	T	C	11: 72,089,567 (GRCm39)	R106G	probably damaging	Het
Cfap54	A	G	10: 92,675,333 (GRCm39)	S2863P	possibly damaging	Het
Copa	T	A	1: 171,948,812 (GRCm39)	S1155T	probably benign	Het
Crot	T	C	5: 9,027,541 (GRCm39)	T264A	probably benign	Het
Ddx3y	G	A	Y: 1,267,170 (GRCm39)	A232V	probably damaging	Het
Dst	T	G	1: 34,050,979 (GRCm39)	V25G	probably benign	Het
Ehbp1	C	T	11: 22,087,867 (GRCm39)	A406T	probably benign	Het
Eml5	A	T	12: 98,768,724 (GRCm39)		probably benign	Het
Eps8	A	T	6: 137,486,153 (GRCm39)	M453K	probably benign	Het
Galnt3	T	C	2: 65,937,374 (GRCm39)	D112G	possibly damaging	Het
Glra4	C	T	X: 135,663,542 (GRCm39)	A336T	probably damaging	Het
Gmppb	A	G	9: 107,927,338 (GRCm39)	D95G	probably benign	Het
Gprc6a	T	C	10: 51,504,544 (GRCm39)	Y100C	possibly damaging	Het
Gpx6	C	A	13: 21,501,828 (GRCm39)	S150Y	probably damaging	Het
Hsd17b3	A	T	13: 64,207,300 (GRCm39)	V247D	probably damaging	Het
Htr7	T	C	19: 36,034,160 (GRCm39)	D165G	probably damaging	Het
Igha	T	C	12: 113,219,972 (GRCm39)		probably benign	Het
Igsf10	A	G	3: 59,239,345 (GRCm39)	C279R	probably damaging	Het
Lipo3	A	T	19: 33,535,723 (GRCm39)	V274E	probably damaging	Het
Lrpprc	A	C	17: 85,078,269 (GRCm39)		probably null	Het
Mast1	T	C	8: 85,645,393 (GRCm39)	Y684C	probably damaging	Het
Mdn1	T	C	4: 32,722,363 (GRCm39)	F2382L	probably benign	Het
Mepe	C	T	5: 104,484,944 (GRCm39)	P28L	probably benign	Het
Mrgpra3	T	A	7: 47,239,414 (GRCm39)	I171F	probably benign	Het
Muc2	T	A	7: 141,300,541 (GRCm39)		probably benign	Het
Myh3	C	T	11: 66,987,262 (GRCm39)	Q1371*	probably null	Het
Nodal	T	A	10: 61,258,833 (GRCm39)	V90E	probably benign	Het
Npas4	A	T	19: 5,036,579 (GRCm39)	H528Q	probably benign	Het
Nt5dc3	T	C	10: 86,660,100 (GRCm39)	V382A	probably damaging	Het
Pcdh18	G	A	3: 49,709,035 (GRCm39)	T293I	probably damaging	Het
Phf20l1	A	G	15: 66,513,665 (GRCm39)	D947G	probably damaging	Het
Phf8-ps	A	T	17: 33,285,405 (GRCm39)	S466T	probably benign	Het
Pla2r1	A	G	2: 60,279,306 (GRCm39)	V758A	probably benign	Het
Plod2	G	T	9: 92,480,672 (GRCm39)	G422*	probably null	Het
Ppp1r12a	T	C	10: 108,089,341 (GRCm39)	V660A	probably benign	Het
Prdm6	T	C	18: 53,673,278 (GRCm39)	I186T	possibly damaging	Het
Prkd3	G	A	17: 79,266,570 (GRCm39)		probably benign	Het
Prrc2a	A	G	17: 35,376,908 (GRCm39)	L734P	probably damaging	Het
Rnf128	C	A	X: 138,565,271 (GRCm39)	L282I	probably damaging	Het
Rnf213	A	G	11: 119,359,879 (GRCm39)	N4424S		Het
Scrn3	T	C	2: 73,166,121 (GRCm39)	S385P	possibly damaging	Het
Serpina1d	A	T	12: 103,734,107 (GRCm39)	S66T	probably benign	Het
Setd3	T	C	12: 108,131,417 (GRCm39)	K3R	possibly damaging	Het
Slc2a7	A	G	4: 150,242,667 (GRCm39)		probably null	Het
Smad4	G	T	18: 73,810,807 (GRCm39)	T59K	possibly damaging	Het
Spc25	A	G	2: 69,032,945 (GRCm39)	L60P	probably damaging	Het
Stam	A	C	2: 14,143,772 (GRCm39)	H354P	probably damaging	Het
Tesk1	C	T	4: 43,445,786 (GRCm39)	P280S	possibly damaging	Het
Tmem120a	C	G	5: 135,765,131 (GRCm39)	R254P	probably benign	Het
Traf5	T	C	1: 191,729,837 (GRCm39)	T405A	probably benign	Het
Trav7-4	A	G	14: 53,699,119 (GRCm39)	S89G	probably benign	Het
Tsc22d1	T	C	14: 76,656,049 (GRCm39)	S761P	probably damaging	Het
Ugt1a10	C	A	1: 88,143,862 (GRCm39)	H361N	probably damaging	Het
Ugt2b1	C	A	5: 87,065,534 (GRCm39)	V502L	probably benign	Het
Vip	T	A	10: 5,592,590 (GRCm39)	S77T	possibly damaging	Het
Wdr72	A	T	9: 74,125,979 (GRCm39)	M1025L	probably benign	Het
Zfp541	A	G	7: 15,806,147 (GRCm39)	D94G	probably 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
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
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'- GGGGAATTGTAATGAAGGTTACACC -3'
(R):5'- CCTGTAGAGAGTAATCACTGGG -3'

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

Posted On

2015-04-30