Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00332:Irak3'

11490

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Irak3

Ensembl Gene

ENSMUSG00000020227

Gene Name

interleukin-1 receptor-associated kinase 3

Synonyms

IRAK-M, 4833428C18Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.530) question?

Stock #

IGL00332

Quality Score

Status

Chromosome

Chromosomal Location

119977553-120038035 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 120013972 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000118038 (fasta)

Gene Model

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

AlphaFold

Q8K4B2

Predicted Effect

probably null
Transcript: ENSMUST00000020448

SMART Domains

Protein: ENSMUSP00000020448
Gene: ENSMUSG00000020227

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 benign
Transcript: ENSMUST00000135106

SMART Domains

Protein: ENSMUSP00000123604
Gene: ENSMUSG00000020227

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 null
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

Coding Region Coverage

Validation Efficiency

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp6	T	C	3: 97,083,737 (GRCm39)	Y404H	possibly damaging	Het
Adgrv1	T	A	13: 81,620,996 (GRCm39)		probably benign	Het
Akap13	A	G	7: 75,378,667 (GRCm39)	K2107E	probably damaging	Het
Ankrd42	A	G	7: 92,233,662 (GRCm39)		probably benign	Het
Apba3	C	T	10: 81,108,901 (GRCm39)	P555S	probably damaging	Het
Aplnr	A	G	2: 84,967,985 (GRCm39)	S337G	probably benign	Het
Arhgef40	A	G	14: 52,226,417 (GRCm39)	N154D	probably damaging	Het
Asb14	A	G	14: 26,633,998 (GRCm39)	K401R	probably benign	Het
Aspn	C	A	13: 49,719,968 (GRCm39)	T328K	probably benign	Het
Barhl2	C	T	5: 106,603,365 (GRCm39)	A265T	possibly damaging	Het
Brca2	T	A	5: 150,463,363 (GRCm39)	H1042Q	probably benign	Het
C3	A	G	17: 57,533,004 (GRCm39)	L167P	probably benign	Het
Ccdc33	A	G	9: 57,977,257 (GRCm39)		probably benign	Het
Cdk10	T	A	8: 123,957,063 (GRCm39)	M222K	possibly damaging	Het
Cfap45	C	T	1: 172,362,912 (GRCm39)		probably benign	Het
Chil3	T	A	3: 106,056,017 (GRCm39)	N352I	probably damaging	Het
Chn2	G	T	6: 54,272,907 (GRCm39)		probably null	Het
Cimip2b	G	A	4: 43,428,158 (GRCm39)	R100W	possibly damaging	Het
Cpt1b	T	C	15: 89,305,066 (GRCm39)	E394G	probably benign	Het
Fcgr2b	T	A	1: 170,788,799 (GRCm39)	N273I	possibly damaging	Het
Fpr-rs7	G	A	17: 20,333,480 (GRCm39)	Q337*	probably null	Het
Fras1	T	A	5: 96,887,217 (GRCm39)	N2666K	possibly damaging	Het
Gfra3	C	T	18: 34,824,601 (GRCm39)		probably null	Het
Gm4553	T	C	7: 141,718,964 (GRCm39)	S155G	unknown	Het
Gpr75	C	T	11: 30,841,590 (GRCm39)	T165I	probably damaging	Het
Gzmd	A	T	14: 56,367,737 (GRCm39)	C179S	probably damaging	Het
Hand1	T	G	11: 57,722,575 (GRCm39)	H13P	probably damaging	Het
Isl2	T	A	9: 55,452,253 (GRCm39)	L275Q	possibly damaging	Het
Itgb2	T	C	10: 77,393,240 (GRCm39)	V367A	probably damaging	Het
Katna1	T	C	10: 7,638,758 (GRCm39)		probably benign	Het
Myh6	A	G	14: 55,184,450 (GRCm39)	M1627T	probably benign	Het
Naprt	A	G	15: 75,765,164 (GRCm39)	Y187H	probably damaging	Het
Nedd4	T	A	9: 72,642,371 (GRCm39)	V550E	probably damaging	Het
Nt5c2	A	G	19: 46,884,954 (GRCm39)	V252A	possibly damaging	Het
Or8k39	T	C	2: 86,563,579 (GRCm39)	I126V	possibly damaging	Het
Or9i16	C	T	19: 13,864,945 (GRCm39)	V210I	probably benign	Het
P2ry2	A	G	7: 100,647,393 (GRCm39)	V304A	probably damaging	Het
Pde4dip	T	C	3: 97,674,593 (GRCm39)	N108D	probably benign	Het
Pdgfrl	A	G	8: 41,438,660 (GRCm39)	T199A	probably damaging	Het
Plaa	A	G	4: 94,470,844 (GRCm39)	Y431H	probably benign	Het
Pls1	A	T	9: 95,664,472 (GRCm39)	I177N	possibly damaging	Het
Plxna2	T	C	1: 194,472,138 (GRCm39)	F1035L	probably damaging	Het
Ppp6r3	A	T	19: 3,564,729 (GRCm39)		probably null	Het
Prpf4b	T	C	13: 35,067,890 (GRCm39)	S240P	probably benign	Het
Reg2	T	A	6: 78,383,204 (GRCm39)	Y50*	probably null	Het
Rev3l	C	T	10: 39,682,965 (GRCm39)	T361I	probably benign	Het
Rps4l	A	G	6: 148,256,383 (GRCm39)		probably benign	Het
Scn11a	A	T	9: 119,598,982 (GRCm39)	F1183I	probably damaging	Het
Sh2b2	T	C	5: 136,253,273 (GRCm39)	E327G	probably damaging	Het
Shank2	A	G	7: 143,965,584 (GRCm39)	K1057R	probably damaging	Het
Sim2	T	A	16: 93,915,803 (GRCm39)	Y255*	probably null	Het
Snx9	A	G	17: 5,949,636 (GRCm39)	N112S	probably benign	Het
Sphkap	T	A	1: 83,258,237 (GRCm39)	I169F	probably damaging	Het
Spink5	A	G	18: 44,100,111 (GRCm39)	T43A	probably benign	Het
Stac2	C	T	11: 97,932,005 (GRCm39)	S265N	probably benign	Het
Tbx20	A	G	9: 24,670,044 (GRCm39)	V91A	probably damaging	Het
Tgfbr2	C	T	9: 115,939,257 (GRCm39)	R190H	probably damaging	Het
Ubr2	A	G	17: 47,301,916 (GRCm39)		probably null	Het
Wdfy3	C	T	5: 102,063,204 (GRCm39)		probably null	Het
Wdr82	T	C	9: 106,061,449 (GRCm39)	V166A	probably benign	Het
Zfhx4	C	T	3: 5,307,401 (GRCm39)	A209V	probably damaging	Het
Zfp518b	T	A	5: 38,831,109 (GRCm39)	T299S	possibly damaging	Het

Other mutations in Irak3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R4885:Irak3	UTSW	10	120,018,586 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2012-12-06