Incidental Mutation 'K7371:Ern1'
ID 7863
Institutional Source Beutler Lab
Gene Symbol Ern1
Ensembl Gene ENSMUSG00000020715
Gene Name endoplasmic reticulum to nucleus signalling 1
Synonyms Ire1p, 9030414B18Rik, Ire1a, Ire1alpha
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # K7371 of strain 614
Quality Score
Status Validated
Chromosome 11
Chromosomal Location 106285476-106378678 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 106291101 bp (GRCm39)
Zygosity Homozygous
Amino Acid Change Isoleucine to Asparagine at position 858 (I858N)
Ref Sequence ENSEMBL: ENSMUSP00000001059 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001059]
AlphaFold Q9EQY0
PDB Structure Crystal structure of murine IRE1 in complex with MKC9989 inhibitor [X-RAY DIFFRACTION]
Crystal structure of murine IRE1 in complex with OICR464 inhibitor [X-RAY DIFFRACTION]
Crystal structure of murine IRE1 in complex with OICR573 inhibitor [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000001059
AA Change: I858N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000001059
Gene: ENSMUSG00000020715
AA Change: I858N

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
PQQ 28 59 3.46e-5 SMART
PQQ 110 142 1.11e-3 SMART
PQQ 148 180 7.84e-4 SMART
PQQ 191 223 3.26e-1 SMART
PQQ 279 310 5.01e1 SMART
low complexity region 471 501 N/A INTRINSIC
low complexity region 513 551 N/A INTRINSIC
Pfam:Pkinase 571 832 1.8e-44 PFAM
Pfam:Pkinase_Tyr 572 829 8.7e-26 PFAM
PUG 895 952 5.25e-23 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131895
Meta Mutation Damage Score 0.5026 question?
Coding Region Coverage
  • 1x: 85.4%
  • 3x: 78.2%
Validation Efficiency 72% (67/93)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is the ER to nucleus signalling 1 protein, a human homologue of the yeast Ire1 gene product. This protein possesses intrinsic kinase activity and an endoribonuclease activity and it is important in altering gene expression as a response to endoplasmic reticulum-based stress signals. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for null mutations display embryonic lethality during organogenesis. Homozygous mice may also display decreased embryo size, impaired hematopoiesis, and/or placental abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610008E11Rik T C 10: 78,903,767 (GRCm39) Y155C probably benign Homo
Alpi G A 1: 87,026,893 (GRCm39) probably benign Homo
Ap4e1 T A 2: 126,908,456 (GRCm39) probably benign Het
Arhgdib A T 6: 136,909,297 (GRCm39) probably null Het
Ckap5 T C 2: 91,425,868 (GRCm39) probably benign Het
Ddx50 A T 10: 62,457,289 (GRCm39) M1K probably null Het
Ell3 T C 2: 121,269,969 (GRCm39) H380R probably damaging Het
Epx A G 11: 87,755,710 (GRCm39) V658A probably damaging Homo
Mtmr10 G A 7: 63,963,958 (GRCm39) G231D probably benign Het
Nfx1 A G 4: 40,976,803 (GRCm39) D159G probably damaging Homo
Opn5 A G 17: 42,891,522 (GRCm39) I305T probably damaging Homo
Pak2 T C 16: 31,852,602 (GRCm39) probably benign Het
Pkhd1l1 T A 15: 44,400,838 (GRCm39) I2204K possibly damaging Het
Pkhd1l1 A T 15: 44,363,463 (GRCm39) T628S possibly damaging Het
Smgc T A 15: 91,744,453 (GRCm39) probably benign Het
Stab1 G A 14: 30,872,206 (GRCm39) L1194F probably damaging Het
Stab2 A G 10: 86,779,153 (GRCm39) probably null Homo
Tet1 T C 10: 62,714,955 (GRCm39) D280G probably benign Het
Vcam1 A G 3: 115,918,298 (GRCm39) I227T probably benign Homo
Wdr87-ps A G 7: 29,230,417 (GRCm39) noncoding transcript Het
Other mutations in Ern1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00825:Ern1 APN 11 106,312,793 (GRCm39) missense probably benign 0.02
IGL01938:Ern1 APN 11 106,302,483 (GRCm39) missense probably benign
IGL02813:Ern1 APN 11 106,314,251 (GRCm39) missense probably damaging 1.00
IGL02928:Ern1 APN 11 106,296,705 (GRCm39) splice site probably benign
IGL02931:Ern1 APN 11 106,314,266 (GRCm39) missense probably damaging 1.00
IGL03153:Ern1 APN 11 106,300,924 (GRCm39) missense possibly damaging 0.63
Immoderate UTSW 11 106,310,868 (GRCm39) missense possibly damaging 0.93
Militant UTSW 11 106,302,478 (GRCm39) missense probably damaging 1.00
R0090:Ern1 UTSW 11 106,296,649 (GRCm39) missense probably damaging 1.00
R0391:Ern1 UTSW 11 106,298,004 (GRCm39) nonsense probably null
R0411:Ern1 UTSW 11 106,289,412 (GRCm39) missense probably benign
R0627:Ern1 UTSW 11 106,289,519 (GRCm39) missense probably benign 0.00
R1416:Ern1 UTSW 11 106,312,806 (GRCm39) splice site probably benign
R1831:Ern1 UTSW 11 106,290,668 (GRCm39) splice site probably null
R1837:Ern1 UTSW 11 106,349,783 (GRCm39) missense probably damaging 1.00
R1944:Ern1 UTSW 11 106,312,776 (GRCm39) missense probably damaging 1.00
R1945:Ern1 UTSW 11 106,312,776 (GRCm39) missense probably damaging 1.00
R1954:Ern1 UTSW 11 106,312,800 (GRCm39) splice site probably benign
R1957:Ern1 UTSW 11 106,317,723 (GRCm39) missense probably damaging 1.00
R2192:Ern1 UTSW 11 106,300,750 (GRCm39) missense probably benign
R4276:Ern1 UTSW 11 106,298,007 (GRCm39) missense probably benign
R4277:Ern1 UTSW 11 106,298,007 (GRCm39) missense probably benign
R4471:Ern1 UTSW 11 106,310,868 (GRCm39) missense possibly damaging 0.93
R4583:Ern1 UTSW 11 106,298,031 (GRCm39) missense probably damaging 1.00
R4731:Ern1 UTSW 11 106,325,676 (GRCm39) intron probably benign
R5177:Ern1 UTSW 11 106,302,601 (GRCm39) missense probably benign 0.01
R5489:Ern1 UTSW 11 106,298,355 (GRCm39) missense probably damaging 1.00
R5538:Ern1 UTSW 11 106,312,727 (GRCm39) missense possibly damaging 0.83
R5806:Ern1 UTSW 11 106,289,531 (GRCm39) missense probably damaging 0.96
R5922:Ern1 UTSW 11 106,312,556 (GRCm39) missense probably damaging 0.97
R5931:Ern1 UTSW 11 106,317,699 (GRCm39) missense possibly damaging 0.86
R5990:Ern1 UTSW 11 106,302,595 (GRCm39) missense probably benign
R6149:Ern1 UTSW 11 106,296,641 (GRCm39) nonsense probably null
R6253:Ern1 UTSW 11 106,317,734 (GRCm39) missense possibly damaging 0.89
R6721:Ern1 UTSW 11 106,302,478 (GRCm39) missense probably damaging 1.00
R6957:Ern1 UTSW 11 106,294,365 (GRCm39) missense probably damaging 1.00
R7362:Ern1 UTSW 11 106,327,949 (GRCm39) missense probably damaging 1.00
R7387:Ern1 UTSW 11 106,312,778 (GRCm39) missense probably damaging 0.98
R7494:Ern1 UTSW 11 106,298,361 (GRCm39) missense probably damaging 1.00
R7514:Ern1 UTSW 11 106,300,719 (GRCm39) critical splice donor site probably null
R7767:Ern1 UTSW 11 106,291,134 (GRCm39) missense probably damaging 1.00
R7811:Ern1 UTSW 11 106,325,694 (GRCm39) missense unknown
R7869:Ern1 UTSW 11 106,349,845 (GRCm39) nonsense probably null
R8750:Ern1 UTSW 11 106,312,776 (GRCm39) missense probably damaging 1.00
R9129:Ern1 UTSW 11 106,300,946 (GRCm39) missense probably benign
R9369:Ern1 UTSW 11 106,305,259 (GRCm39) missense probably benign 0.09
R9546:Ern1 UTSW 11 106,300,853 (GRCm39) missense probably benign 0.21
R9688:Ern1 UTSW 11 106,349,836 (GRCm39) missense possibly damaging 0.52
R9735:Ern1 UTSW 11 106,312,708 (GRCm39) nonsense probably null
X0021:Ern1 UTSW 11 106,289,432 (GRCm39) missense probably damaging 1.00
X0022:Ern1 UTSW 11 106,349,745 (GRCm39) missense probably damaging 1.00
Posted On 2012-11-12