Incidental Mutation 'R4113:Irak1bp1'
ID 314507
Institutional Source Beutler Lab
Gene Symbol Irak1bp1
Ensembl Gene ENSMUSG00000032251
Gene Name interleukin-1 receptor-associated kinase 1 binding protein 1
Synonyms AIP70, SIMPL, 4921528N06Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.143) question?
Stock # R4113 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 82711859-82729741 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 82728728 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 220 (S220P)
Ref Sequence ENSEMBL: ENSMUSP00000108871 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034783] [ENSMUST00000113245]
AlphaFold Q9ESJ7
Predicted Effect probably benign
Transcript: ENSMUST00000034783
AA Change: S198P

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000034783
Gene: ENSMUSG00000032251
AA Change: S198P

DomainStartEndE-ValueType
Pfam:SIMPL 52 106 1.1e-11 PFAM
Pfam:SIMPL 103 227 1.4e-12 PFAM
low complexity region 228 235 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000113245
AA Change: S220P

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000108871
Gene: ENSMUSG00000032251
AA Change: S220P

DomainStartEndE-ValueType
Pfam:SIMPL 52 248 1.5e-26 PFAM
low complexity region 250 257 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.6%
  • 20x: 96.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bace2 A G 16: 97,237,856 (GRCm39) T436A probably benign Het
BC024139 A G 15: 76,005,827 (GRCm39) M458T probably benign Het
Casp2 G A 6: 42,244,828 (GRCm39) A76T probably damaging Het
Catsper3 A G 13: 55,934,183 (GRCm39) K35E probably damaging Het
Ccdc88c A G 12: 100,911,332 (GRCm39) L34P probably damaging Het
Dcaf13 T A 15: 38,993,615 (GRCm39) I236N probably damaging Het
Dip2c G T 13: 9,687,137 (GRCm39) G1254C probably damaging Het
Dnah12 T C 14: 26,414,722 (GRCm39) L41P probably damaging Het
Dnah17 T C 11: 118,003,420 (GRCm39) K514R possibly damaging Het
Dnajb12 T A 10: 59,730,136 (GRCm39) S270R possibly damaging Het
Dnajc28 G A 16: 91,413,755 (GRCm39) T187M probably damaging Het
Eya4 G T 10: 23,031,849 (GRCm39) S235Y probably damaging Het
Fat3 G A 9: 15,909,567 (GRCm39) S2145F probably damaging Het
Gdf3 A G 6: 122,584,016 (GRCm39) I117T probably damaging Het
Gm5611 T A 9: 16,941,989 (GRCm39) noncoding transcript Het
Gtf3c4 G A 2: 28,717,567 (GRCm39) T771I probably damaging Het
Hrh3 C A 2: 179,744,643 (GRCm39) R99L possibly damaging Het
Hyls1 T A 9: 35,472,714 (GRCm39) Y234F probably damaging Het
Lama1 G A 17: 68,071,698 (GRCm39) V862I probably benign Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Or14a258 G A 7: 86,035,733 (GRCm39) T45M possibly damaging Het
Or4b12 A T 2: 90,096,684 (GRCm39) L30H probably damaging Het
Pcdh8 T C 14: 80,004,953 (GRCm39) D927G probably damaging Het
Prelid3a T C 18: 67,605,967 (GRCm39) Y25H probably damaging Het
Ptprm T C 17: 67,032,808 (GRCm39) D1015G probably damaging Het
Rhox3f G T X: 36,763,672 (GRCm39) E140* probably null Het
Riox2 C T 16: 59,312,257 (GRCm39) L465F probably benign Het
Sec31b G T 19: 44,512,968 (GRCm39) T507N possibly damaging Het
Stab1 C T 14: 30,890,436 (GRCm39) R5Q probably damaging Het
Stmn3 T C 2: 180,949,089 (GRCm39) K135E possibly damaging Het
Synj2 G A 17: 6,058,240 (GRCm39) G243S probably benign Het
Tasor C T 14: 27,181,918 (GRCm39) R483* probably null Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Tshz2 C A 2: 169,727,450 (GRCm39) P213Q probably benign Het
Tssk4 A G 14: 55,887,830 (GRCm39) T9A probably benign Het
Ube4a T A 9: 44,860,247 (GRCm39) I272F probably damaging Het
Unc79 T C 12: 103,025,629 (GRCm39) C339R probably damaging Het
Vmn2r87 T C 10: 130,315,691 (GRCm39) D125G probably benign Het
Yap1 A T 9: 7,938,432 (GRCm39) *358K probably null Het
Zfp992 C T 4: 146,551,976 (GRCm39) H566Y probably damaging Het
Other mutations in Irak1bp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0393:Irak1bp1 UTSW 9 82,728,614 (GRCm39) missense probably benign 0.00
R2516:Irak1bp1 UTSW 9 82,712,373 (GRCm39) missense probably damaging 1.00
R6046:Irak1bp1 UTSW 9 82,728,616 (GRCm39) nonsense probably null
R7026:Irak1bp1 UTSW 9 82,712,084 (GRCm39) missense possibly damaging 0.94
R8947:Irak1bp1 UTSW 9 82,728,846 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAAATGATTGACTGCCGCAG -3'
(R):5'- CAATATGTTGAATGTCCGAGACAG -3'

Sequencing Primer
(F):5'- GCAGGTCTTTTAATGTCATCCTAATC -3'
(R):5'- TGTCCGAGACAGAAAGAAGCACTG -3'
Posted On 2015-05-14