Mutagenetix > Incidental Mutation

Incidental Mutation 'R2205:Irak1'

239016

Institutional Source

Beutler Lab

Gene Symbol

Irak1

Ensembl Gene

ENSMUSG00000031392

Gene Name

interleukin-1 receptor-associated kinase 1

Synonyms

Il1rak, IRAK-1, Plpk, mPLK

MMRRC Submission

040207-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2205 (G1)

Quality Score

222

Status

Not validated

Chromosome

Chromosomal Location

73057520-73067524 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 73060744 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 193 (T193I)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033769] [ENSMUST00000068286] [ENSMUST00000101458] [ENSMUST00000114352] [ENSMUST00000114353] [ENSMUST00000114354] [ENSMUST00000114360] [ENSMUST00000126583] [ENSMUST00000128436]

AlphaFold

Q62406

Predicted Effect

probably benign
Transcript: ENSMUST00000033769
AA Change: T678I

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000033769
Gene: ENSMUSG00000031392
AA Change: T678I

Domain	Start	End	E-Value	Type
low complexity region	3	14	N/A	INTRINSIC
Pfam:Death	28	103	3e-14	PFAM
low complexity region	104	123	N/A	INTRINSIC
low complexity region	158	189	N/A	INTRINSIC
Pfam:Pkinase_Tyr	213	518	5.5e-36	PFAM
Pfam:Pkinase	213	522	4.2e-40	PFAM
low complexity region	607	616	N/A	INTRINSIC
low complexity region	680	694	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000068286
AA Change: T638I

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000064448
Gene: ENSMUSG00000031392
AA Change: T638I

Domain	Start	End	E-Value	Type
low complexity region	3	14	N/A	INTRINSIC
Pfam:Death	28	103	4.4e-13	PFAM
low complexity region	104	123	N/A	INTRINSIC
low complexity region	158	188	N/A	INTRINSIC
Pfam:Pkinase	212	518	5.1e-41	PFAM
Pfam:Pkinase_Tyr	212	518	6.3e-37	PFAM
low complexity region	567	576	N/A	INTRINSIC
low complexity region	640	654	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000101458
AA Change: T611I

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000099001
Gene: ENSMUSG00000031392
AA Change: T611I

Domain	Start	End	E-Value	Type
low complexity region	3	14	N/A	INTRINSIC
Pfam:Death	28	103	4.1e-13	PFAM
low complexity region	104	123	N/A	INTRINSIC
low complexity region	158	188	N/A	INTRINSIC
Pfam:Pkinase	212	516	1.3e-40	PFAM
Pfam:Pkinase_Tyr	212	517	1.9e-36	PFAM
low complexity region	540	549	N/A	INTRINSIC
low complexity region	613	627	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114352
AA Change: T638I

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000109992
Gene: ENSMUSG00000031392
AA Change: T638I

Domain	Start	End	E-Value	Type
low complexity region	3	14	N/A	INTRINSIC
Pfam:Death	28	103	4.4e-13	PFAM
low complexity region	104	123	N/A	INTRINSIC
low complexity region	158	188	N/A	INTRINSIC
Pfam:Pkinase	212	518	5.1e-41	PFAM
Pfam:Pkinase_Tyr	212	518	6.3e-37	PFAM
low complexity region	567	576	N/A	INTRINSIC
low complexity region	640	654	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114353
AA Change: T559I

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000109993
Gene: ENSMUSG00000031392
AA Change: T559I

Domain	Start	End	E-Value	Type
low complexity region	3	14	N/A	INTRINSIC
Pfam:Death	28	103	1e-10	PFAM
low complexity region	104	123	N/A	INTRINSIC
low complexity region	158	188	N/A	INTRINSIC
S_TKc	212	537	6.6e-15	SMART
low complexity region	561	575	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114354
AA Change: T639I

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000109994
Gene: ENSMUSG00000031392
AA Change: T639I

Domain	Start	End	E-Value	Type
low complexity region	3	14	N/A	INTRINSIC
Pfam:Death	28	103	1.5e-12	PFAM
low complexity region	104	123	N/A	INTRINSIC
low complexity region	158	189	N/A	INTRINSIC
Pfam:Pkinase	213	519	6e-41	PFAM
Pfam:Pkinase_Tyr	213	519	7.4e-37	PFAM
low complexity region	568	577	N/A	INTRINSIC
low complexity region	641	655	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114360
AA Change: T638I

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000110000
Gene: ENSMUSG00000031392
AA Change: T638I

Domain	Start	End	E-Value	Type
low complexity region	3	14	N/A	INTRINSIC
Pfam:Death	28	103	4.4e-13	PFAM
low complexity region	104	123	N/A	INTRINSIC
low complexity region	158	188	N/A	INTRINSIC
Pfam:Pkinase	212	518	5.1e-41	PFAM
Pfam:Pkinase_Tyr	212	518	6.3e-37	PFAM
low complexity region	567	576	N/A	INTRINSIC
low complexity region	640	654	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000126583
AA Change: T381I

PolyPhen 2 Score 0.254 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000115508
Gene: ENSMUSG00000031392
AA Change: T381I

Domain	Start	End	E-Value	Type
Pfam:Pkinase	1	261	1.7e-29	PFAM
Pfam:Pkinase_Tyr	1	261	3.2e-31	PFAM
low complexity region	310	319	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000138397
AA Change: T204I

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000121016
Gene: ENSMUSG00000031392
AA Change: T204I

Domain	Start	End	E-Value	Type
Pfam:Pkinase	1	145	9.7e-18	PFAM
Pfam:Pkinase_Tyr	2	125	2.5e-13	PFAM
low complexity region	207	221	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000148317
AA Change: T193I

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000122519
Gene: ENSMUSG00000031392
AA Change: T193I

Domain	Start	End	E-Value	Type
SCOP:d1ir3a_	32	98	1e-6	SMART
low complexity region	123	132	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140130

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148706

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149871

Predicted Effect

probably benign
Transcript: ENSMUST00000128436

SMART Domains

Protein: ENSMUSP00000118570
Gene: ENSMUSG00000031392

Domain	Start	End	E-Value	Type
SCOP:d1qpca_	63	93	3e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000132144

SMART Domains

Protein: ENSMUSP00000117042
Gene: ENSMUSG00000031392

Domain	Start	End	E-Value	Type
low complexity region	22	53	N/A	INTRINSIC
SCOP:d1b6cb_	60	109	2e-15	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 96.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the interleukin-1 receptor-associated kinase 1, one of two putative serine/threonine kinases that become associated with the interleukin-1 receptor (IL1R) upon stimulation. This gene is partially responsible for IL1-induced upregulation of the transcription factor NF-kappa B. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display an essentially normal phenotype. Cytokine production and response to endotoxin are attenuated however. [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
9930111J21Rik2	C	G	11: 48,910,149 (GRCm39)	L761F	probably damaging	Het
Abca14	T	C	7: 119,846,503 (GRCm39)	S652P	probably damaging	Het
Acsl6	G	A	11: 54,214,833 (GRCm39)	G75S	probably damaging	Het
Adamts7	A	T	9: 90,062,729 (GRCm39)	K394N	probably damaging	Het
Ahdc1	A	G	4: 132,793,220 (GRCm39)	E1487G	possibly damaging	Het
Aknad1	A	G	3: 108,664,609 (GRCm39)	D406G	probably damaging	Het
Albfm1	A	G	5: 90,717,421 (GRCm39)	T201A	possibly damaging	Het
Ankrd2	C	A	19: 42,032,558 (GRCm39)	A273E	probably damaging	Het
Ankrd26	T	A	6: 118,500,843 (GRCm39)	H876L	possibly damaging	Het
Arhgap35	A	T	7: 16,231,950 (GRCm39)		probably null	Het
Bag6	G	A	17: 35,363,583 (GRCm39)	G751R	probably damaging	Het
Brat1	G	A	5: 140,690,888 (GRCm39)		probably benign	Het
Cacna1h	C	T	17: 25,599,234 (GRCm39)	A1742T	probably damaging	Het
Catsperg1	G	A	7: 28,884,671 (GRCm39)	Q922*	probably null	Het
Cfap221	T	G	1: 119,863,834 (GRCm39)	Y570S	possibly damaging	Het
Cfap45	T	C	1: 172,359,728 (GRCm39)	V76A	probably benign	Het
Chil3	T	C	3: 106,071,562 (GRCm39)	D34G	probably benign	Het
Cpa1	A	G	6: 30,641,818 (GRCm39)	D214G	probably damaging	Het
Cpd	A	G	11: 76,693,070 (GRCm39)	Y739H	probably damaging	Het
Cttnbp2	T	G	6: 18,408,693 (GRCm39)	D976A	probably benign	Het
Dhrs7	A	T	12: 72,703,144 (GRCm39)	V188E	probably damaging	Het
Dpp9	A	C	17: 56,506,287 (GRCm39)	I411S	possibly damaging	Het
Elapor1	C	T	3: 108,382,359 (GRCm39)	G270E	probably damaging	Het
Fitm2	G	A	2: 163,314,516 (GRCm39)		probably benign	Het
Flnc	C	T	6: 29,459,507 (GRCm39)	P2536S	probably damaging	Het
Gm6370	T	A	5: 146,430,539 (GRCm39)	D241E	probably benign	Het
Gpatch1	C	A	7: 34,991,197 (GRCm39)	D616Y	probably damaging	Het
Gpc3	T	A	X: 51,486,083 (GRCm39)	I344F	probably damaging	Het
Hmgcs2	T	A	3: 98,198,499 (GRCm39)	I134N	probably damaging	Het
Hoxb3	T	A	11: 96,236,494 (GRCm39)	S191T	probably benign	Het
Ifit1bl1	C	T	19: 34,571,741 (GRCm39)	E239K	probably benign	Het
Ints8	A	T	4: 11,225,712 (GRCm39)	M615K	possibly damaging	Het
Megf8	C	T	7: 25,041,173 (GRCm39)	T1134I	probably benign	Het
Mtrex	T	C	13: 113,035,424 (GRCm39)	I510V	probably benign	Het
Nipsnap1	C	A	11: 4,839,974 (GRCm39)	H232N	possibly damaging	Het
Nme4	A	T	17: 26,311,114 (GRCm39)	H150Q	possibly damaging	Het
Nudt5	A	T	2: 5,860,794 (GRCm39)	I22F	possibly damaging	Het
P2rx7	T	A	5: 122,819,164 (GRCm39)	Y529N	probably damaging	Het
Pdlim2	C	T	14: 70,402,228 (GRCm39)	R296H	probably damaging	Het
Pofut1	T	A	2: 153,103,167 (GRCm39)	M267K	probably damaging	Het
Rad54l2	T	C	9: 106,594,997 (GRCm39)	D320G	probably damaging	Het
Rdm1	C	A	11: 101,525,629 (GRCm39)	A225E	probably damaging	Het
Samm50	G	A	15: 84,086,515 (GRCm39)	A245T	probably benign	Het
Scfd2	A	T	5: 74,386,028 (GRCm39)	M597K	possibly damaging	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Ssh3	A	G	19: 4,319,101 (GRCm39)	L3P	probably damaging	Het
Stoml2	G	T	4: 43,030,243 (GRCm39)	Y119*	probably null	Het
Tbc1d31	A	G	15: 57,816,916 (GRCm39)	D717G	probably benign	Het
Timd5	A	G	11: 46,419,394 (GRCm39)	N70S	probably benign	Het
Tma7	C	A	9: 108,911,294 (GRCm39)		probably benign	Het
Tmc1	A	T	19: 20,918,269 (GRCm39)	L2M	probably benign	Het
Tmem39b	A	C	4: 129,587,716 (GRCm39)	S32A	probably benign	Het
Tnfsf14	T	C	17: 57,497,638 (GRCm39)	D198G	possibly damaging	Het
Tns3	T	C	11: 8,481,719 (GRCm39)	Y211C	probably damaging	Het
Ttc21b	C	T	2: 66,065,467 (GRCm39)	G436S	possibly damaging	Het
Ttn	T	C	2: 76,681,907 (GRCm39)		probably benign	Het
Ube3b	G	A	5: 114,527,135 (GRCm39)	V118M	probably damaging	Het
Usp34	A	G	11: 23,335,147 (GRCm39)	T1210A	probably damaging	Het
Vmn1r23	T	C	6: 57,903,604 (GRCm39)	D58G	probably benign	Het
Vmn2r104	A	T	17: 20,250,083 (GRCm39)	N729K	probably benign	Het
Wdr62	T	A	7: 29,957,574 (GRCm39)		probably null	Het
Ywhah	A	G	5: 33,184,484 (GRCm39)	N229S	probably damaging	Het
Zbtb47	A	G	9: 121,591,703 (GRCm39)	T8A	possibly damaging	Het
Zfyve27	C	A	19: 42,171,885 (GRCm39)	A139D	probably damaging	Het
Zmat1	A	G	X: 133,873,861 (GRCm39)	L476P	possibly damaging	Het
Zswim4	G	T	8: 84,952,498 (GRCm39)	T488N	possibly damaging	Het

Other mutations in Irak1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0830:Irak1	UTSW	X	73,060,189 (GRCm39)	missense	probably damaging	0.98
R2114:Irak1	UTSW	X	73,066,218 (GRCm39)	missense	possibly damaging	0.89
R2115:Irak1	UTSW	X	73,066,218 (GRCm39)	missense	possibly damaging	0.89
R2117:Irak1	UTSW	X	73,066,218 (GRCm39)	missense	possibly damaging	0.89
R2202:Irak1	UTSW	X	73,060,744 (GRCm39)	missense	probably damaging	0.99
R4679:Irak1	UTSW	X	73,065,995 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- TGCAGGGCAGAATTCTCCAG -3'
(R):5'- CTCTAGTAGTGACCACAAGAGCCC -3'

Sequencing Primer
(F):5'- GCAGGGCAGAATTCTCCAGTATATTC -3'
(R):5'- GAAGTCCCAACCAGCCAGTG -3'

Posted On

2014-10-02