Mutagenetix > Incidental Mutation

Incidental Mutation 'R4885:Irak3'

375647

Institutional Source

Beutler Lab

Gene Symbol

Irak3

Ensembl Gene

ENSMUSG00000020227

Gene Name

interleukin-1 receptor-associated kinase 3

Synonyms

IRAK-M, 4833428C18Rik

MMRRC Submission

042851-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.530) question?

Stock #

R4885 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

119977553-120038035 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 120018586 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 54 (D54V)

Ref Sequence

ENSEMBL: ENSMUSP00000123604 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020448] [ENSMUST00000135106] [ENSMUST00000145665]

AlphaFold

Q8K4B2

Predicted Effect

probably damaging
Transcript: ENSMUST00000020448
AA Change: D54V

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

SMART Domains

Protein: ENSMUSP00000020448
Gene: ENSMUSG00000020227
AA Change: D54V

Domain	Start	End	E-Value	Type
Pfam:Death	26	106	1.3e-15	PFAM
Pfam:Pkinase	178	456	8.4e-37	PFAM
Pfam:Pkinase_Tyr	178	456	2e-35	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000135106
AA Change: D54V

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

SMART Domains

Protein: ENSMUSP00000123604
Gene: ENSMUSG00000020227
AA Change: D54V

Domain	Start	End	E-Value	Type
Pfam:Death	26	106	2.2e-16	PFAM
Pfam:Pkinase_Tyr	178	301	3.1e-15	PFAM
Pfam:Pkinase	178	302	4.9e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143100

Predicted Effect

probably benign
Transcript: ENSMUST00000145665

SMART Domains

Protein: ENSMUSP00000118038
Gene: ENSMUSG00000020227

Domain	Start	End	E-Value	Type
Pfam:Pkinase	86	364	8.4e-35	PFAM
Pfam:Pkinase_Tyr	86	364	1.7e-34	PFAM

Meta Mutation Damage Score

0.7241

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.6%

Validation Efficiency

99% (77/78)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the interleukin-1 receptor-associated kinase protein family. Members of this family are essential components of the Toll/IL-R immune signal transduction pathways. This protein is primarily expressed in monocytes and macrophages and functions as a negative regulator of Toll-like receptor signaling. Mutations in this gene are associated with a susceptibility to asthma. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous for disruptions in this gene display abnormal inflammatory responses to bacterial infections and loose bone mass with age. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf3	A	G	16: 20,370,425 (GRCm39)	T317A	probably benign	Het
Adck1	G	A	12: 88,407,865 (GRCm39)	A199T	probably benign	Het
Adgrb1	A	T	15: 74,444,011 (GRCm39)	M1038L	probably benign	Het
Anapc10	C	T	8: 80,455,779 (GRCm39)	T76I	probably benign	Het
Atosa	T	C	9: 74,913,649 (GRCm39)	L94P	probably damaging	Het
Bptf	C	T	11: 106,965,474 (GRCm39)	S1177N	probably benign	Het
Bsn	A	T	9: 107,984,726 (GRCm39)	Y337*	probably null	Het
Ccl20	T	A	1: 83,095,580 (GRCm39)	V48E	possibly damaging	Het
Ccnl1	C	T	3: 65,864,320 (GRCm39)	D122N	probably damaging	Het
Chat	C	G	14: 32,176,567 (GRCm39)	G69A	probably damaging	Het
Cr2	T	A	1: 194,841,039 (GRCm39)	I418F	possibly damaging	Het
Dmxl1	G	C	18: 50,011,862 (GRCm39)	A1340P	probably damaging	Het
Eef2k	G	A	7: 120,491,155 (GRCm39)	R547Q	probably benign	Het
Eml2	G	A	7: 18,937,935 (GRCm39)	S793N	probably benign	Het
Enox1	T	A	14: 77,958,290 (GRCm39)	L632Q	probably damaging	Het
Fabp9	T	C	3: 10,259,738 (GRCm39)	K92E	probably damaging	Het
Fam234a	T	C	17: 26,432,559 (GRCm39)	H530R	probably benign	Het
Fancm	C	T	12: 65,149,417 (GRCm39)	Q728*	probably null	Het
Fgd3	G	A	13: 49,417,465 (GRCm39)	T666M	possibly damaging	Het
Foxs1	T	C	2: 152,774,301 (GRCm39)	M251V	probably benign	Het
Fsip2	A	T	2: 82,818,438 (GRCm39)	M4724L	probably benign	Het
Gemin6	G	A	17: 80,535,327 (GRCm39)	E96K	probably damaging	Het
Gfi1	C	A	5: 107,871,152 (GRCm39)	V80F	probably damaging	Het
H3c13	G	T	3: 96,176,277 (GRCm39)	V90F	possibly damaging	Het
Hectd1	A	G	12: 51,847,505 (GRCm39)	V442A	probably damaging	Het
Ift80	A	G	3: 68,857,829 (GRCm39)	I272T	probably damaging	Het
Impact	C	G	18: 13,119,430 (GRCm39)	A214G	probably damaging	Het
Insl6	C	T	19: 29,302,556 (GRCm39)	E54K	probably benign	Het
Itk	C	T	11: 46,227,171 (GRCm39)		probably null	Het
Ivl	A	T	3: 92,479,718 (GRCm39)	C116S	probably benign	Het
Kcnq4	G	A	4: 120,570,260 (GRCm39)	A361V	probably benign	Het
L1td1	C	T	4: 98,625,548 (GRCm39)	P581L	probably benign	Het
Lrp1b	T	C	2: 41,358,905 (GRCm39)	E656G	probably benign	Het
Macrod2	A	G	2: 140,261,985 (GRCm39)	T89A	possibly damaging	Het
Mettl13	T	C	1: 162,364,837 (GRCm39)	D514G	probably damaging	Het
Mfsd13b	A	T	7: 120,590,711 (GRCm39)	I151F	possibly damaging	Het
Mical3	G	A	6: 120,912,214 (GRCm39)	P1882S	probably damaging	Het
Mycbp2	T	C	14: 103,383,382 (GRCm39)	E394G	possibly damaging	Het
Myo16	T	A	8: 10,488,892 (GRCm39)	S688T	probably damaging	Het
Neb	T	C	2: 52,176,058 (GRCm39)	Y1467C	probably damaging	Het
Nhsl3	C	T	4: 129,118,238 (GRCm39)	R214Q	probably damaging	Het
Nkx6-3	C	A	8: 23,643,914 (GRCm39)	P105Q	possibly damaging	Het
Nlrp1b	T	C	11: 71,108,710 (GRCm39)	T264A	possibly damaging	Het
Nnat	G	A	2: 157,403,678 (GRCm39)	C122Y	probably damaging	Het
Notch3	G	A	17: 32,360,351 (GRCm39)	R1527C	probably damaging	Het
Or2y16	C	T	11: 49,335,449 (GRCm39)	T257I	probably damaging	Het
Or5an1c	T	G	19: 12,218,082 (GRCm39)		probably null	Het
Or5h18	A	G	16: 58,847,518 (GRCm39)	Y251H	probably damaging	Het
Pds5b	C	T	5: 150,639,927 (GRCm39)	T14I	probably benign	Het
Phf19	A	T	2: 34,789,718 (GRCm39)	I334N	probably damaging	Het
Pik3ap1	T	C	19: 41,364,365 (GRCm39)	D118G	probably benign	Het
Pkhd1	T	A	1: 20,140,712 (GRCm39)	E3886V	possibly damaging	Het
Pkp1	A	G	1: 135,846,690 (GRCm39)	S21P	possibly damaging	Het
Pramel32	T	A	4: 88,546,219 (GRCm39)	L374F	possibly damaging	Het
Rack1	C	A	11: 48,696,463 (GRCm39)	A290E	probably damaging	Het
Rbm15	A	G	3: 107,239,570 (GRCm39)	V276A	probably benign	Het
Rnf216	A	T	5: 143,076,335 (GRCm39)	L183*	probably null	Het
Sc5d	T	C	9: 42,166,922 (GRCm39)	I206V	probably benign	Het
Scpep1	A	G	11: 88,826,737 (GRCm39)	I233T	probably benign	Het
Sh3pxd2a	A	G	19: 47,257,132 (GRCm39)	Y529H	probably damaging	Het
Slc1a4	A	C	11: 20,254,384 (GRCm39)	V494G	probably damaging	Het
Slc38a7	T	C	8: 96,575,230 (GRCm39)	T17A	probably benign	Het
Smg6	T	C	11: 74,932,744 (GRCm39)	S73P	probably damaging	Het
Stk32b	T	C	5: 37,624,141 (GRCm39)	Y202C	probably damaging	Het
Tas2r140	A	G	6: 40,468,334 (GRCm39)	S55G	probably damaging	Het
Tcf12	C	T	9: 71,766,122 (GRCm39)	G504S	probably null	Het
Ttc3	G	C	16: 94,227,690 (GRCm39)		probably null	Het
Ttc3	T	C	16: 94,220,324 (GRCm39)	I568T	probably damaging	Het
Ttc41	T	G	10: 86,594,966 (GRCm39)	N913K	possibly damaging	Het
Vrk1	G	A	12: 106,024,231 (GRCm39)	V236M	probably damaging	Het
Wscd1	C	T	11: 71,650,972 (GRCm39)	R100C	probably damaging	Het
Zc3h18	C	T	8: 123,128,445 (GRCm39)		probably benign	Het

Other mutations in Irak3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00332:Irak3	APN	10	120,013,972 (GRCm39)	critical splice donor site	probably null
IGL01015:Irak3	APN	10	119,978,695 (GRCm39)	nonsense	probably null
IGL01530:Irak3	APN	10	119,978,699 (GRCm39)	missense	probably benign	0.10
IGL01641:Irak3	APN	10	120,012,252 (GRCm39)	missense	probably benign	0.35
IGL01730:Irak3	APN	10	120,014,005 (GRCm39)	missense	probably benign	0.04
IGL02054:Irak3	APN	10	120,012,164 (GRCm39)	missense	probably benign	0.01
IGL02938:Irak3	APN	10	120,018,429 (GRCm39)	critical splice donor site	probably null
IGL02954:Irak3	APN	10	120,012,147 (GRCm39)	missense	probably damaging	0.98
IGL02992:Irak3	APN	10	120,018,566 (GRCm39)	missense	probably damaging	1.00
IGL03376:Irak3	APN	10	119,982,541 (GRCm39)	splice site	probably benign
iracema	UTSW	10	119,981,687 (GRCm39)	missense	probably damaging	0.99
R0031:Irak3	UTSW	10	120,012,225 (GRCm39)	nonsense	probably null
R0734:Irak3	UTSW	10	119,981,542 (GRCm39)	splice site	probably benign
R1017:Irak3	UTSW	10	119,978,789 (GRCm39)	missense	possibly damaging	0.94
R1025:Irak3	UTSW	10	120,012,251 (GRCm39)	missense	probably damaging	1.00
R1486:Irak3	UTSW	10	119,978,966 (GRCm39)	missense	probably damaging	1.00
R1538:Irak3	UTSW	10	120,001,035 (GRCm39)	missense	probably benign	0.00
R1596:Irak3	UTSW	10	120,018,451 (GRCm39)	missense	probably damaging	1.00
R1689:Irak3	UTSW	10	119,982,457 (GRCm39)	missense	probably damaging	0.98
R2133:Irak3	UTSW	10	120,001,082 (GRCm39)	missense	probably benign	0.10
R3609:Irak3	UTSW	10	119,981,582 (GRCm39)	missense	possibly damaging	0.95
R3947:Irak3	UTSW	10	120,006,278 (GRCm39)	missense	probably benign	0.00
R3948:Irak3	UTSW	10	120,006,278 (GRCm39)	missense	probably benign	0.00
R4510:Irak3	UTSW	10	119,981,813 (GRCm39)	missense	probably damaging	0.99
R4511:Irak3	UTSW	10	119,981,813 (GRCm39)	missense	probably damaging	0.99
R5007:Irak3	UTSW	10	119,982,334 (GRCm39)	critical splice donor site	probably null
R5180:Irak3	UTSW	10	119,981,687 (GRCm39)	missense	probably damaging	0.99
R5704:Irak3	UTSW	10	119,981,594 (GRCm39)	missense	probably benign	0.04
R5715:Irak3	UTSW	10	119,978,641 (GRCm39)	missense	possibly damaging	0.66
R6020:Irak3	UTSW	10	119,979,042 (GRCm39)	missense	probably damaging	1.00
R6916:Irak3	UTSW	10	120,037,270 (GRCm39)	missense	probably damaging	1.00
R7182:Irak3	UTSW	10	120,002,416 (GRCm39)	missense	probably damaging	1.00
R7707:Irak3	UTSW	10	119,982,489 (GRCm39)	missense	probably damaging	0.99
R7787:Irak3	UTSW	10	120,012,256 (GRCm39)	missense	probably benign	0.06
R8087:Irak3	UTSW	10	120,018,440 (GRCm39)	missense	probably benign	0.02
R8673:Irak3	UTSW	10	119,982,493 (GRCm39)	missense	possibly damaging	0.68
X0023:Irak3	UTSW	10	119,979,092 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CATCAGATGGATAGAGAGCCTC -3'
(R):5'- AAGTTTGTCCTGGTTAGACCTG -3'

Sequencing Primer
(F):5'- TCAGATGGATAGAGAGCCTCAATATG -3'
(R):5'- CCTGGTTAGACCTGTGGATAC -3'

Posted On

2016-03-17