Incidental Mutation 'R2115:Irak1'
ID233091
Institutional Source Beutler Lab
Gene Symbol Irak1
Ensembl Gene ENSMUSG00000031392
Gene Nameinterleukin-1 receptor-associated kinase 1
SynonymsIRAK-1, Il1rak, Plpk, mPLK
MMRRC Submission 040119-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R2115 (G1)
Quality Score222
Status Validated
ChromosomeX
Chromosomal Location74013914-74023918 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 74022612 bp
ZygosityHeterozygous
Amino Acid Change Proline to Glutamine at position 197 (P197Q)
Ref Sequence ENSEMBL: ENSMUSP00000110000 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033769] [ENSMUST00000068286] [ENSMUST00000100750] [ENSMUST00000101458] [ENSMUST00000114352] [ENSMUST00000114353] [ENSMUST00000114354] [ENSMUST00000114360] [ENSMUST00000124417] [ENSMUST00000126583] [ENSMUST00000128436] [ENSMUST00000170481]
Predicted Effect probably benign
Transcript: ENSMUST00000033769
AA Change: P198Q

PolyPhen 2 Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000033769
Gene: ENSMUSG00000031392
AA Change: P198Q

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000068286
AA Change: P197Q

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000064448
Gene: ENSMUSG00000031392
AA Change: P197Q

DomainStartEndE-ValueType
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: ENSMUST00000100750
SMART Domains Protein: ENSMUSP00000098314
Gene: ENSMUSG00000031393

DomainStartEndE-ValueType
low complexity region 23 44 N/A INTRINSIC
low complexity region 65 81 N/A INTRINSIC
MBD 92 169 7.34e-36 SMART
AT_hook 185 197 5.16e0 SMART
low complexity region 231 238 N/A INTRINSIC
AT_hook 265 277 1.2e2 SMART
low complexity region 340 403 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000101458
AA Change: P197Q

PolyPhen 2 Score 0.624 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000099001
Gene: ENSMUSG00000031392
AA Change: P197Q

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000102173
Predicted Effect possibly damaging
Transcript: ENSMUST00000114352
AA Change: P197Q

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000109992
Gene: ENSMUSG00000031392
AA Change: P197Q

DomainStartEndE-ValueType
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: P197Q

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000109993
Gene: ENSMUSG00000031392
AA Change: P197Q

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000114354
AA Change: P198Q

PolyPhen 2 Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000109994
Gene: ENSMUSG00000031392
AA Change: P198Q

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000114360
AA Change: P197Q

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000110000
Gene: ENSMUSG00000031392
AA Change: P197Q

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000124417
AA Change: P50Q

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000116167
Gene: ENSMUSG00000031392
AA Change: P50Q

DomainStartEndE-ValueType
low complexity region 10 41 N/A INTRINSIC
SCOP:d1b6cb_ 48 97 6e-15 SMART
Predicted Effect unknown
Transcript: ENSMUST00000124580
AA Change: P87Q
SMART Domains Protein: ENSMUSP00000117379
Gene: ENSMUSG00000031392
AA Change: P87Q

DomainStartEndE-ValueType
low complexity region 49 79 N/A INTRINSIC
SCOP:d1b6cb_ 86 135 2e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000126583
SMART Domains Protein: ENSMUSP00000115508
Gene: ENSMUSG00000031392

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000128436
SMART Domains Protein: ENSMUSP00000118570
Gene: ENSMUSG00000031392

DomainStartEndE-ValueType
SCOP:d1qpca_ 63 93 3e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128759
Predicted Effect unknown
Transcript: ENSMUST00000132144
AA Change: P61Q
SMART Domains Protein: ENSMUSP00000117042
Gene: ENSMUSG00000031392
AA Change: P61Q

DomainStartEndE-ValueType
low complexity region 22 53 N/A INTRINSIC
SCOP:d1b6cb_ 60 109 2e-15 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000138397
SMART Domains Protein: ENSMUSP00000121016
Gene: ENSMUSG00000031392

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000140130
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144353
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145677
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146210
Predicted Effect probably benign
Transcript: ENSMUST00000148317
SMART Domains Protein: ENSMUSP00000122519
Gene: ENSMUSG00000031392

DomainStartEndE-ValueType
SCOP:d1ir3a_ 32 98 1e-6 SMART
low complexity region 123 132 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148706
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149809
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149871
Predicted Effect probably benign
Transcript: ENSMUST00000170481
SMART Domains Protein: ENSMUSP00000127115
Gene: ENSMUSG00000031393

DomainStartEndE-ValueType
low complexity region 23 44 N/A INTRINSIC
low complexity region 65 81 N/A INTRINSIC
MBD 92 169 7.34e-36 SMART
AT_hook 185 197 5.16e0 SMART
low complexity region 231 238 N/A INTRINSIC
AT_hook 265 277 1.2e2 SMART
low complexity region 340 403 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175166
Meta Mutation Damage Score 0.1154 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 98% (95/97)
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
8030462N17Rik T C 18: 77,674,472 D48G possibly damaging Het
Aatk T C 11: 120,009,736 T1195A probably benign Het
Abca12 A T 1: 71,244,771 N2547K probably benign Het
Abca16 A C 7: 120,540,645 E1510A probably damaging Het
Adam5 A G 8: 24,744,145 probably benign Het
Akna G A 4: 63,395,160 P242L probably benign Het
Akr1b7 G A 6: 34,418,994 A144T possibly damaging Het
Ankhd1 T A 18: 36,634,308 S1167T probably damaging Het
Arf5 C T 6: 28,424,784 Q71* probably null Het
Arl15 C T 13: 113,967,660 S111F probably damaging Het
Atxn1l C T 8: 109,732,608 A341T probably benign Het
Birc7 C A 2: 180,930,849 Q138K possibly damaging Het
Blvra G T 2: 127,086,069 E80* probably null Het
Ccdc148 T C 2: 59,002,116 E188G probably damaging Het
Chad C T 11: 94,568,226 A318V probably benign Het
Cntfr A G 4: 41,663,534 probably null Het
Dirc2 T C 16: 35,697,939 D468G probably benign Het
Dnah17 C T 11: 118,119,802 C230Y probably benign Het
Dnmt3l C A 10: 78,063,296 L110I probably damaging Het
Dusp11 T C 6: 85,958,669 D74G probably damaging Het
Eif3m T C 2: 105,006,796 T61A probably damaging Het
Esyt1 T A 10: 128,522,104 D212V probably damaging Het
Exoc4 T A 6: 33,347,825 N351K possibly damaging Het
F13a1 A T 13: 36,988,857 I183N probably damaging Het
Fam83f T G 15: 80,692,267 V373G possibly damaging Het
Fam83h A T 15: 76,002,297 Y1064N probably damaging Het
Flrt3 G T 2: 140,661,503 N68K probably damaging Het
Fut7 C A 2: 25,425,331 Y153* probably null Het
Gm10277 TC T 11: 77,786,002 probably null Het
Gm1527 T C 3: 28,917,949 L405P probably benign Het
Gm4981 T C 10: 58,236,251 D47G possibly damaging Het
Heatr6 T A 11: 83,757,455 probably benign Het
Herc2 T C 7: 56,185,828 probably benign Het
Ints14 T G 9: 64,979,795 L336R probably damaging Het
Kat7 C T 11: 95,303,294 R60Q probably benign Het
Katnal2 T C 18: 76,980,091 R385G probably damaging Het
Kcnt2 G T 1: 140,552,963 L755F probably damaging Het
Kif4 A G X: 100,665,717 S315G probably benign Het
Kifc3 A G 8: 95,108,713 Y178H probably damaging Het
Krit1 A T 5: 3,822,108 R378* probably null Het
L3mbtl1 T A 2: 162,960,070 probably null Het
Lama3 C A 18: 12,402,849 T204N possibly damaging Het
Lama5 A G 2: 180,186,885 C2090R probably damaging Het
Mb G T 15: 77,022,559 Q9K probably benign Het
Mipep T C 14: 60,787,380 V90A probably damaging Het
Myo3a A T 2: 22,245,531 I70F probably damaging Het
Napa A G 7: 16,114,209 D217G possibly damaging Het
Nectin2 T C 7: 19,717,564 D515G probably damaging Het
Nkx2-6 T A 14: 69,171,839 V13E probably damaging Het
Nmi T C 2: 51,948,707 T272A probably benign Het
Nptx2 G C 5: 144,555,406 G331A probably damaging Het
Olfr1228 T C 2: 89,249,530 I55V probably damaging Het
Olfr183 T C 16: 59,000,420 L245P possibly damaging Het
Olfr450 A G 6: 42,817,497 T9A possibly damaging Het
Olfr854 T C 9: 19,567,322 T18A probably benign Het
Parp14 T C 16: 35,858,534 T355A probably benign Het
Pcdh12 T C 18: 38,283,986 T29A probably damaging Het
Pced1b T A 15: 97,384,624 C181* probably null Het
Phka1 C T X: 102,610,201 R290H probably damaging Het
Pick1 T A 15: 79,255,581 probably benign Het
Pitrm1 A T 13: 6,557,773 Y268F probably damaging Het
Polr2h T C 16: 20,718,987 probably benign Het
Ppfia2 A T 10: 106,762,111 K178N probably damaging Het
Prkag1 T C 15: 98,814,552 Y133C probably damaging Het
Ptk2 A G 15: 73,242,406 V701A possibly damaging Het
Ptpra G T 2: 130,539,735 R372L probably damaging Het
Ptpro T A 6: 137,443,594 V1007D probably damaging Het
Qrich2 A G 11: 116,447,156 V1887A probably damaging Het
Ralgapa1 T C 12: 55,786,349 probably null Het
Rassf9 A G 10: 102,544,945 T63A probably benign Het
Rdh11 G T 12: 79,176,222 Q292K probably benign Het
Rere C A 4: 150,612,561 probably benign Het
Rgs18 G T 1: 144,753,891 T210K possibly damaging Het
Rnf213 A G 11: 119,428,013 N1099S probably benign Het
Ros1 T C 10: 52,128,555 I969V probably benign Het
Rrh T C 3: 129,810,687 I288M probably damaging Het
Rrp12 C T 19: 41,891,094 V174I probably benign Het
Rtf1 T A 2: 119,705,518 H184Q probably benign Het
Sbk3 A G 7: 4,967,416 L318S possibly damaging Het
Scn9a T C 2: 66,484,052 E1774G probably damaging Het
Sec11c A T 18: 65,800,649 T9S probably benign Het
Sec23ip G A 7: 128,762,461 V488I probably benign Het
Serpine3 T C 14: 62,673,010 L184P probably damaging Het
Slc26a2 T C 18: 61,198,824 T512A possibly damaging Het
Smpd4 T C 16: 17,626,865 Y118H probably benign Het
Tcof1 T C 18: 60,832,785 E415G possibly damaging Het
Ttc33 G A 15: 5,212,053 V120I probably benign Het
Usp20 T A 2: 31,016,305 C562S probably damaging Het
Utp20 T C 10: 88,786,003 D1136G probably benign Het
Vgll1 A C X: 57,092,430 K53T probably damaging Het
Yars T G 4: 129,207,923 probably null Het
Zfp472 A G 17: 32,978,014 I354M possibly damaging Het
Zfp786 A G 6: 47,826,997 V37A probably damaging Het
Other mutations in Irak1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0830:Irak1 UTSW X 74016583 missense probably damaging 0.98
R2114:Irak1 UTSW X 74022612 missense possibly damaging 0.89
R2117:Irak1 UTSW X 74022612 missense possibly damaging 0.89
R2202:Irak1 UTSW X 74017138 missense probably damaging 0.99
R2205:Irak1 UTSW X 74017138 missense probably damaging 0.99
R4679:Irak1 UTSW X 74022389 unclassified probably benign
Predicted Primers PCR Primer
(F):5'- AAGGCTTGGGGTCCTTGAAG -3'
(R):5'- GGTGTACCACAGAGCCCAAATC -3'

Sequencing Primer
(F):5'- AAGGACTGATAGATTGTCTTCCAGG -3'
(R):5'- TCAGCACAGCCAGGTCATCTG -3'
Posted On2014-09-18