Mutagenetix > Incidental Mutation

Incidental Mutation 'R1689:Irak3'

189579

Institutional Source

Beutler Lab

Gene Symbol

Irak3

Ensembl Gene

ENSMUSG00000020227

Gene Name

interleukin-1 receptor-associated kinase 3

Synonyms

IRAK-M, 4833428C18Rik

MMRRC Submission

039722-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.530) question?

Stock #

R1689 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

119977553-120038035 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 119982457 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 335 (E335G)

Ref Sequence

ENSEMBL: ENSMUSP00000020448 (fasta)

Gene Model

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

AlphaFold

Q8K4B2

Predicted Effect

probably damaging
Transcript: ENSMUST00000020448
AA Change: E335G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000020448
Gene: ENSMUSG00000020227
AA Change: E335G

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

probably benign
Transcript: ENSMUST00000145665
AA Change: E243G

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000118038
Gene: ENSMUSG00000020227
AA Change: E243G

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

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.9%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	T	C	7: 45,769,827 (GRCm39)	K896R	probably benign	Het
Adcy9	A	T	16: 4,115,426 (GRCm39)		probably null	Het
Adgre1	T	C	17: 57,756,921 (GRCm39)	F726S	probably benign	Het
Ahctf1	A	T	1: 179,595,948 (GRCm39)	S148T	probably damaging	Het
Aif1	G	A	17: 35,391,127 (GRCm39)	P44L	probably benign	Het
Ammecr1l	C	A	18: 31,913,741 (GRCm39)	A289D	probably benign	Het
Amotl1	T	C	9: 14,504,518 (GRCm39)	Y230C	probably damaging	Het
Armc6	A	T	8: 70,682,187 (GRCm39)	S65R	probably benign	Het
Atad2b	T	A	12: 5,084,575 (GRCm39)	Y1440*	probably null	Het
Atf6b	T	A	17: 34,869,276 (GRCm39)	D164E	probably damaging	Het
B4galt6	C	T	18: 20,839,553 (GRCm39)	S127N	probably benign	Het
Bcl11a	A	T	11: 24,113,167 (GRCm39)	Y170F	probably damaging	Het
Bcl11a	A	T	11: 24,114,406 (GRCm39)	D583V	possibly damaging	Het
Btnl1	T	A	17: 34,600,182 (GRCm39)	Y228*	probably null	Het
Cav2	A	G	6: 17,281,421 (GRCm39)	H21R	probably benign	Het
Celsr2	T	A	3: 108,314,620 (GRCm39)	D1135V	possibly damaging	Het
Cntnap1	A	C	11: 101,079,699 (GRCm39)		probably null	Het
Cysltr2	T	C	14: 73,267,470 (GRCm39)	D80G	possibly damaging	Het
Dclk2	C	T	3: 86,712,946 (GRCm39)	R503Q	possibly damaging	Het
Dgkh	A	T	14: 78,855,984 (GRCm39)	M363K	possibly damaging	Het
Eml5	C	T	12: 98,797,194 (GRCm39)	V1112M	probably damaging	Het
Entpd7	A	G	19: 43,713,915 (GRCm39)	T425A	probably damaging	Het
Ephx2	T	A	14: 66,324,475 (GRCm39)	K373*	probably null	Het
F5	G	C	1: 164,026,486 (GRCm39)	R1686P	probably damaging	Het
Fbxw10	A	T	11: 62,750,862 (GRCm39)	I482L	probably damaging	Het
Fbxw8	T	C	5: 118,215,682 (GRCm39)	S443G	probably damaging	Het
Fdft1	T	C	14: 63,394,138 (GRCm39)	E191G	probably benign	Het
Fgd2	A	G	17: 29,582,696 (GRCm39)	E26G	probably benign	Het
Gabra4	T	C	5: 71,790,885 (GRCm39)		probably null	Het
Gc	A	G	5: 89,589,059 (GRCm39)		probably null	Het
Heatr1	T	A	13: 12,439,506 (GRCm39)	D1361E	probably benign	Het
Hid1	A	G	11: 115,251,183 (GRCm39)	F118L	probably damaging	Het
Igsf8	G	T	1: 172,146,504 (GRCm39)	G564W	probably damaging	Het
Il12rb2	A	G	6: 67,313,744 (GRCm39)	V4A	probably benign	Het
Itgb8	T	G	12: 119,134,555 (GRCm39)	Q504P	probably benign	Het
Kbtbd12	A	T	6: 88,595,567 (GRCm39)	Y88N	probably damaging	Het
Klk1b5	T	C	7: 43,869,969 (GRCm39)	I226T	probably damaging	Het
L3hypdh	A	T	12: 72,131,527 (GRCm39)	I135N	probably damaging	Het
Lrp2	G	T	2: 69,333,873 (GRCm39)	T1456K	probably benign	Het
Mrgprd	C	A	7: 144,875,454 (GRCm39)	Y108*	probably null	Het
Muc6	C	T	7: 141,234,265 (GRCm39)	G742D	probably damaging	Het
Nalcn	T	A	14: 123,522,666 (GRCm39)	I1572F	probably damaging	Het
Nceh1	A	G	3: 27,280,231 (GRCm39)	Y126C	probably damaging	Het
Or14j1	T	C	17: 38,146,495 (GRCm39)	S202P	possibly damaging	Het
Or1ak2	A	G	2: 36,827,989 (GRCm39)	N286S	probably damaging	Het
Or7d11	A	T	9: 19,966,422 (GRCm39)	N112K	possibly damaging	Het
Pacs1	G	T	19: 5,322,643 (GRCm39)		probably benign	Het
Pappa2	A	G	1: 158,784,968 (GRCm39)	L14P	probably damaging	Het
Pdlim2	C	T	14: 70,408,688 (GRCm39)	G176D	probably damaging	Het
Pramel17	T	A	4: 101,694,376 (GRCm39)	K169I	possibly damaging	Het
Ptpra	T	C	2: 130,345,412 (GRCm39)	F5L	probably benign	Het
Qrfprl	A	G	6: 65,358,591 (GRCm39)	N105S	possibly damaging	Het
Ralgapa1	A	G	12: 55,723,552 (GRCm39)	L2114P	possibly damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Senp2	T	A	16: 21,845,416 (GRCm39)	Y217N	probably damaging	Het
Sned1	C	T	1: 93,211,094 (GRCm39)	R1061C	probably damaging	Het
Spag16	C	T	1: 70,500,277 (GRCm39)	T535I	probably benign	Het
Supt20	T	A	3: 54,619,583 (GRCm39)	L355*	probably null	Het
Tmem132b	A	G	5: 125,864,678 (GRCm39)	H928R	possibly damaging	Het
Tpo	A	T	12: 30,148,245 (GRCm39)	L552H	probably damaging	Het
Tsfm	A	T	10: 126,864,324 (GRCm39)	N130K	probably damaging	Het
Usp48	T	A	4: 137,383,418 (GRCm39)		probably null	Het
Vsig10	A	G	5: 117,490,825 (GRCm39)	D544G	probably benign	Het
Vsig10l	C	T	7: 43,114,792 (GRCm39)	T433I	possibly damaging	Het
Wdr81	A	G	11: 75,336,422 (GRCm39)	F1655L	probably damaging	Het
Wfdc3	T	A	2: 164,576,111 (GRCm39)	D60V	probably damaging	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
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

Predicted Primers

PCR Primer
(F):5'- TTTGCAGCCCGTTAGAACCTCC -3'
(R):5'- ATCACTCAGCCATGTCGTAGCTCAG -3'

Sequencing Primer
(F):5'- cctgcctaatgctgtgacc -3'
(R):5'- CGTAGCTCAGCCTCTGTGATG -3'

Posted On

2014-05-14