Mutagenetix > Incidental Mutation

Incidental Mutation 'R4687:Irak4'

353789

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

041938-MU

Accession Numbers

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

Essential gene?

Possibly essential (E-score: 0.616) question?

Stock #

R4687 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

94543643-94581815 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 94566823 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 425 (S425P)

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: S425P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000074471
Gene: ENSMUSG00000059883
AA Change: S425P

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: S425P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000104871
Gene: ENSMUSG00000059883
AA Change: S425P

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: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	A	17: 8,992,153	Y45N	probably damaging	Het
Agbl3	T	C	6: 34,798,326	V189A	probably damaging	Het
Akip1	C	A	7: 109,704,986	S90*	probably null	Het
Amn	A	T	12: 111,276,068	D439V	probably benign	Het
Arhgap17	T	A	7: 123,321,603	D149V	probably damaging	Het
Atp6v0a4	A	T	6: 38,092,465	I76N	possibly damaging	Het
Atp6v1h	A	T	1: 5,133,085	N291I	probably damaging	Het
Baiap2l2	G	T	15: 79,259,253	P462T	probably damaging	Het
Bves	C	T	10: 45,354,840		probably null	Het
Cabp7	T	A	11: 4,739,265	K127*	probably null	Het
Cacna1h	A	G	17: 25,393,910	V313A	possibly damaging	Het
Camkk2	T	C	5: 122,753,724	H245R	probably damaging	Het
Celsr1	T	A	15: 85,932,460	S1761C	possibly damaging	Het
Cfap46	T	C	7: 139,627,456	E1849G	possibly damaging	Het
Ciz1	T	C	2: 32,367,465	L174P	probably damaging	Het
Crim1	G	T	17: 78,303,025	C303F	probably damaging	Het
Cyp26c1	A	G	19: 37,692,937	Q396R	probably damaging	Het
Dnajc7	G	A	11: 100,599,300	P43L	probably damaging	Het
Dpf2	T	C	19: 5,907,012	H16R	probably damaging	Het
Dsp	A	G	13: 38,191,619	T1127A	probably damaging	Het
Dst	T	C	1: 34,201,123	L1525P	probably damaging	Het
Ehf	T	A	2: 103,267,126	D192V	probably damaging	Het
Frem1	G	T	4: 83,020,631	N71K	probably damaging	Het
Furin	T	A	7: 80,393,447	T339S	probably benign	Het
Gad1	T	A	2: 70,600,720	I569N	possibly damaging	Het
Gfi1	T	C	5: 107,723,810	K10R	probably damaging	Het
Gm20775	T	A	Y: 10,641,258		noncoding transcript	Homo
Gpn3	A	C	5: 122,378,575	D89A	possibly damaging	Het
Gpr18	T	A	14: 121,911,678	R312*	probably null	Het
Gsap	T	C	5: 21,246,971		probably benign	Het
H2-Ab1	C	A	17: 34,264,809	T48K	probably damaging	Het
Hmcn2	A	T	2: 31,438,285	N4326I	probably benign	Het
Igkv4-51	A	C	6: 69,681,730		probably benign	Het
Insr	T	C	8: 3,161,709	H1104R	probably benign	Het
Ipo13	A	T	4: 117,901,576	N697K	probably benign	Het
Iqcm	T	G	8: 75,762,989	F362V	probably damaging	Het
Jakmip2	T	C	18: 43,577,412	E242G	possibly damaging	Het
Kdm4a	T	C	4: 118,144,083	K829R	probably damaging	Het
Kdr	T	C	5: 75,968,792	N145S	possibly damaging	Het
Klra9	A	T	6: 130,185,517	D185E	probably benign	Het
Lcn12	T	C	2: 25,493,321	N15S	probably benign	Het
Mei4	T	A	9: 81,927,317	M151K	probably damaging	Het
Mmp3	T	A	9: 7,451,223	S320T	probably benign	Het
Mrps5	C	G	2: 127,590,770	A37G	probably benign	Het
Mttp	A	G	3: 138,092,735	I800T	possibly damaging	Het
Nags	A	T	11: 102,148,196	Q451L	probably damaging	Het
Nbea	T	C	3: 56,058,065	T476A	probably damaging	Het
Ndufb10	T	C	17: 24,722,419	E145G	possibly damaging	Het
Neb	T	G	2: 52,304,035	S660R	possibly damaging	Het
Nppb	A	G	4: 147,986,296	K43E	probably benign	Het
Nup188	A	T	2: 30,330,633	Q906L	probably benign	Het
Olfr1259	T	C	2: 89,943,869	D82G	probably damaging	Het
Olfr1413	T	C	1: 92,573,330	I53T	possibly damaging	Het
Olfr370	T	A	8: 83,541,860	S239T	probably damaging	Het
Olfr895	C	A	9: 38,269,414	N292K	probably damaging	Het
Ovch2	T	A	7: 107,796,548	I88F	possibly damaging	Het
Palm3	A	G	8: 84,029,935	E692G	probably benign	Het
Pcsk6	T	C	7: 65,983,753	F578L	probably damaging	Het
Piezo2	A	C	18: 63,069,963	D1535E	probably damaging	Het
Ppp1r15b	T	C	1: 133,132,135	V130A	probably benign	Het
Proca1	T	C	11: 78,204,898	Y32H	probably damaging	Het
Prtg	T	A	9: 72,890,798	V682E	probably damaging	Het
Pyroxd1	A	T	6: 142,361,868	M455L	probably benign	Het
Rasa1	T	C	13: 85,226,635	D739G	possibly damaging	Het
Scn3a	T	C	2: 65,464,730	I1550V	possibly damaging	Het
Sepsecs	T	C	5: 52,643,871	D483G	probably benign	Het
Setd7	T	C	3: 51,550,355	D17G	probably damaging	Het
Sipa1l2	C	T	8: 125,491,245	C451Y	probably damaging	Het
Slc31a1	A	G	4: 62,388,702	Y165C	probably damaging	Het
Smg5	T	C	3: 88,342,469	F68L	possibly damaging	Het
Sptbn5	A	G	2: 120,077,208		probably benign	Het
Stk3	A	G	15: 35,114,565	I65T	probably damaging	Het
Tas2r115	C	T	6: 132,737,284	A235T	possibly damaging	Het
Tenm2	C	T	11: 36,049,097	A1400T	probably benign	Het
Tet1	T	A	10: 62,838,791	N1169Y	probably benign	Het
Treml2	T	A	17: 48,309,397		probably null	Het
Tspan11	A	G	6: 127,938,235	E104G	probably damaging	Het
Wdtc1	G	A	4: 133,296,431	A543V	probably damaging	Het
Zfp148	T	A	16: 33,496,819	D578E	probably damaging	Het
Zfp735	A	T	11: 73,711,855	N542Y	probably damaging	Het
Zfp735	A	T	11: 73,711,856	N542I	probably damaging	Het
Zfp869	T	A	8: 69,708,143	E65D	probably benign	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
R3973:Irak4	UTSW	15	94554740	missense	possibly damaging	0.73
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'- ACAGCTCCTGATGAGTCTGC -3'
(R):5'- TTGTAGCAGCTGTTGAACCTTTC -3'

Sequencing Primer
(F):5'- CTTGAAAGGGTTTAACCAAGTT -3'
(R):5'- AAGAAAGAGATCAAAAGAACCAGG -3'

Posted On

2015-10-21