Incidental Mutation 'R0391:Ern1'
ID 31716
Institutional Source Beutler Lab
Gene Symbol Ern1
Ensembl Gene ENSMUSG00000020715
Gene Name endoplasmic reticulum to nucleus signalling 1
Synonyms Ire1p, 9030414B18Rik, Ire1a, Ire1alpha
MMRRC Submission 038597-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0391 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 106285476-106378678 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 106298004 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 706 (K706*)
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 null
Transcript: ENSMUST00000001059
AA Change: K706*
SMART Domains Protein: ENSMUSP00000001059
Gene: ENSMUSG00000020715
AA Change: K706*

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 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.8%
Validation Efficiency 97% (97/100)
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: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530002B09Rik T A 4: 122,594,970 (GRCm39) probably benign Het
Abcc2 G A 19: 43,810,044 (GRCm39) probably benign Het
Abcc8 C G 7: 45,771,597 (GRCm39) G838A probably damaging Het
Akr1c21 G A 13: 4,631,199 (GRCm39) A245T probably damaging Het
Anapc15-ps T C 10: 95,509,139 (GRCm39) E47G probably damaging Het
Apoa1 A G 9: 46,141,140 (GRCm39) T79A probably benign Het
Atp6v1b1 A G 6: 83,733,903 (GRCm39) H378R possibly damaging Het
C4b A G 17: 34,954,588 (GRCm39) probably benign Het
Catsperd A T 17: 56,969,821 (GRCm39) E638D probably benign Het
Cckar C T 5: 53,863,595 (GRCm39) probably null Het
Cfap100 C T 6: 90,382,321 (GRCm39) probably benign Het
Chd1 G T 17: 15,970,156 (GRCm39) G970C probably damaging Het
Col14a1 A G 15: 55,309,655 (GRCm39) probably benign Het
Col17a1 C T 19: 47,652,263 (GRCm39) V698M probably damaging Het
Cpeb1 T C 7: 81,011,473 (GRCm39) D156G possibly damaging Het
Cryl1 A G 14: 57,541,232 (GRCm39) Y151H possibly damaging Het
Csmd3 C A 15: 47,520,969 (GRCm39) V1881L probably damaging Het
Ctnnal1 C T 4: 56,847,921 (GRCm39) A73T probably damaging Het
Cyp2c37 T C 19: 39,982,950 (GRCm39) S180P probably damaging Het
Cyp2c54 T C 19: 40,060,613 (GRCm39) T123A possibly damaging Het
Dennd6b T C 15: 89,071,417 (GRCm39) D304G probably damaging Het
Dnmt3l T C 10: 77,887,750 (GRCm39) probably benign Het
Eci1 G A 17: 24,652,234 (GRCm39) probably null Het
Efhc1 A G 1: 21,030,412 (GRCm39) Y115C probably damaging Het
Ghrl T C 6: 113,696,299 (GRCm39) E31G probably damaging Het
Gpr108 A C 17: 57,550,101 (GRCm39) V179G probably benign Het
Henmt1 A G 3: 108,865,851 (GRCm39) probably benign Het
Ift172 A G 5: 31,444,011 (GRCm39) V69A probably damaging Het
Il17ra T C 6: 120,453,940 (GRCm39) probably benign Het
Il17rb T C 14: 29,726,304 (GRCm39) N95D probably benign Het
Il17rb G T 14: 29,728,112 (GRCm39) probably null Het
Iqub G A 6: 24,446,154 (GRCm39) L757F probably benign Het
Itpr1 T C 6: 108,355,128 (GRCm39) V473A probably benign Het
Itpr2 T G 6: 146,131,271 (GRCm39) N1978H probably damaging Het
Klk1b26 T A 7: 43,662,151 (GRCm39) F3Y probably damaging Het
Lars1 A G 18: 42,384,428 (GRCm39) V50A probably benign Het
Lax1 G T 1: 133,607,804 (GRCm39) H312Q probably benign Het
Lctl T C 9: 64,029,596 (GRCm39) probably benign Het
Lrp2 T A 2: 69,287,202 (GRCm39) D3745V probably damaging Het
Lrp2 G A 2: 69,290,681 (GRCm39) probably benign Het
Lvrn A T 18: 46,983,533 (GRCm39) H92L probably benign Het
Marchf1 A G 8: 66,871,625 (GRCm39) T385A probably damaging Het
Marf1 C T 16: 13,960,398 (GRCm39) A549T probably damaging Het
Mbd5 T C 2: 49,162,428 (GRCm39) V970A possibly damaging Het
Mccc1 A G 3: 36,017,719 (GRCm39) probably benign Het
Mpp4 A T 1: 59,182,988 (GRCm39) probably benign Het
Mrnip G A 11: 50,090,747 (GRCm39) A304T probably damaging Het
Muc5b T C 7: 141,418,819 (GRCm39) S3922P possibly damaging Het
Myh3 T A 11: 66,987,333 (GRCm39) probably benign Het
Nbea A T 3: 55,944,698 (GRCm39) H555Q probably damaging Het
Niban3 T A 8: 72,055,143 (GRCm39) probably benign Het
Nlrp9c A T 7: 26,070,901 (GRCm39) probably benign Het
Nmur1 A T 1: 86,315,400 (GRCm39) V178E probably damaging Het
Nod2 T G 8: 89,390,406 (GRCm39) S238A probably benign Het
Ogfod1 A T 8: 94,789,651 (GRCm39) T451S probably damaging Het
Or1e17 T C 11: 73,831,935 (GRCm39) F288L probably damaging Het
Or2d36 T A 7: 106,747,394 (GRCm39) Y290* probably null Het
Or2z8 C T 8: 72,812,244 (GRCm39) T240M probably damaging Het
Or8b8 G A 9: 37,809,138 (GRCm39) G146D probably benign Het
Pcdh20 T C 14: 88,706,104 (GRCm39) I399V probably benign Het
Pdlim1 G T 19: 40,232,017 (GRCm39) H120Q probably damaging Het
Plg T C 17: 12,637,968 (GRCm39) V798A probably damaging Het
Polr2c A G 8: 95,584,403 (GRCm39) I39V possibly damaging Het
Ppfia2 C A 10: 106,666,575 (GRCm39) probably benign Het
Ppp1r3a A T 6: 14,719,696 (GRCm39) I406N probably benign Het
Psg28 A T 7: 18,160,098 (GRCm39) M366K probably benign Het
Rad54b T C 4: 11,601,702 (GRCm39) I419T probably damaging Het
Rnf43 A G 11: 87,622,108 (GRCm39) Q403R possibly damaging Het
Sema6a G A 18: 47,423,112 (GRCm39) probably null Het
Slc28a3 A G 13: 58,717,229 (GRCm39) probably benign Het
Smad2 A T 18: 76,422,108 (GRCm39) probably null Het
Smad4 G A 18: 73,791,720 (GRCm39) P274S probably benign Het
Smchd1 A T 17: 71,710,149 (GRCm39) V906D probably damaging Het
Soat2 C A 15: 102,067,188 (GRCm39) R320S possibly damaging Het
Spata33 C T 8: 123,948,626 (GRCm39) A57V probably damaging Het
Stab1 A G 14: 30,865,375 (GRCm39) L1814P probably benign Het
Stab2 T C 10: 86,783,008 (GRCm39) K680R probably benign Het
Stil A G 4: 114,898,369 (GRCm39) probably null Het
Sympk T A 7: 18,780,774 (GRCm39) L759H probably benign Het
Tet1 A T 10: 62,650,325 (GRCm39) probably null Het
Tfpi2 A T 6: 3,965,460 (GRCm39) N117K probably benign Het
Tle3 A G 9: 61,323,943 (GRCm39) Y766C probably damaging Het
Trpt1 C A 19: 6,975,298 (GRCm39) probably null Het
Tshz1 A G 18: 84,034,174 (GRCm39) F78S possibly damaging Het
Ttc1 T C 11: 43,629,635 (GRCm39) D177G probably damaging Het
Ttc13 T A 8: 125,401,140 (GRCm39) Y741F probably damaging Het
Ulk3 C T 9: 57,502,115 (GRCm39) S462L probably benign Het
Utrn C T 10: 12,401,077 (GRCm39) probably benign Het
V1rd19 A C 7: 23,703,010 (GRCm39) T159P probably damaging Het
Vars1 T C 17: 35,230,462 (GRCm39) V515A possibly damaging Het
Vmn1r85 A G 7: 12,818,515 (GRCm39) Y210H probably benign Het
Vmn2r89 A G 14: 51,693,435 (GRCm39) T262A probably damaging Het
Vps53 G A 11: 76,012,405 (GRCm39) T209I probably benign Het
Wdfy2 T C 14: 63,162,582 (GRCm39) F95L possibly damaging Het
Wwp1 G T 4: 19,627,911 (GRCm39) S694Y probably damaging Het
Zbtb8b T A 4: 129,326,463 (GRCm39) D201V probably damaging Het
Zmym5 A C 14: 57,041,908 (GRCm39) N123K possibly damaging 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
K7371:Ern1 UTSW 11 106,291,101 (GRCm39) missense probably damaging 1.00
R0090:Ern1 UTSW 11 106,296,649 (GRCm39) missense probably damaging 1.00
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
Predicted Primers PCR Primer
(F):5'- GGTTGGGAGAGACACTGTTCACAC -3'
(R):5'- TTTGCCAGACTAAAAGGCCCAGG -3'

Sequencing Primer
(F):5'- CCTGTCTGTCTTAGAACATGAAACG -3'
(R):5'- TTCCTGACCTTCACAGGAGAAAG -3'
Posted On 2013-04-24