Incidental Mutation 'R1954:Ern1'
ID 217586
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 039968-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1954 (G1)
Quality Score 222
Status Validated
Chromosome 11
Chromosomal Location 106285476-106378678 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 106312800 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000102413 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001059] [ENSMUST00000106801]
AlphaFold Q9EQY0
Predicted Effect probably benign
Transcript: ENSMUST00000001059
SMART Domains Protein: ENSMUSP00000001059
Gene: ENSMUSG00000020715

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 probably benign
Transcript: ENSMUST00000106801
SMART Domains Protein: ENSMUSP00000102413
Gene: ENSMUSG00000020715

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131895
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 97% (101/104)
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: 100 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts15 T A 9: 30,822,004 (GRCm39) M478L probably benign Het
Akap8l T A 17: 32,555,710 (GRCm39) Y123F possibly damaging Het
Anapc4 T G 5: 53,003,967 (GRCm39) probably benign Het
Arap3 A G 18: 38,115,055 (GRCm39) V987A probably damaging Het
Atp2b4 T A 1: 133,667,730 (GRCm39) T105S probably damaging Het
Atp6v0d1 A G 8: 106,292,525 (GRCm39) L7P probably damaging Het
Atp6v1b2 T C 8: 69,558,555 (GRCm39) V341A possibly damaging Het
Baz2b C A 2: 59,799,087 (GRCm39) A346S probably benign Het
Brpf3 G A 17: 29,025,533 (GRCm39) S202N probably benign Het
Btnl4 T C 17: 34,691,904 (GRCm39) K233E possibly damaging Het
Capn7 A G 14: 31,082,107 (GRCm39) T438A probably damaging Het
Cars2 A T 8: 11,600,286 (GRCm39) Y68N probably damaging Het
Cbx2 G T 11: 118,919,166 (GRCm39) G244W probably damaging Het
Ccr4 A T 9: 114,321,753 (GRCm39) V104D probably damaging Het
Cdc5l T C 17: 45,737,442 (GRCm39) probably null Het
Cep170 A T 1: 176,583,950 (GRCm39) C810S probably benign Het
Cfap299 A T 5: 98,714,612 (GRCm39) probably benign Het
Clp1 T C 2: 84,554,395 (GRCm39) D258G probably damaging Het
Clstn3 T C 6: 124,436,257 (GRCm39) E164G possibly damaging Het
Col28a1 T C 6: 7,998,516 (GRCm39) E1131G probably damaging Het
Cps1 A G 1: 67,234,355 (GRCm39) D914G possibly damaging Het
Ctnnal1 C T 4: 56,817,242 (GRCm39) probably benign Het
Cyp2c38 A G 19: 39,393,131 (GRCm39) L312P probably damaging Het
Cytip T C 2: 58,038,265 (GRCm39) N99D possibly damaging Het
Dennd4a A T 9: 64,759,749 (GRCm39) T285S probably benign Het
Dhx8 A G 11: 101,644,105 (GRCm39) S842G probably damaging Het
Disp1 A T 1: 182,870,107 (GRCm39) M771K probably damaging Het
Dnah17 A G 11: 117,915,557 (GRCm39) I4326T probably damaging Het
Efcab7 T C 4: 99,757,887 (GRCm39) F345L probably damaging Het
Erc1 G T 6: 119,774,266 (GRCm39) Q230K probably damaging Het
Espl1 T C 15: 102,206,823 (GRCm39) Y96H probably damaging Het
Fam135a A T 1: 24,068,683 (GRCm39) L533I probably damaging Het
Fat2 G A 11: 55,201,910 (GRCm39) T388I probably benign Het
Galnt1 T G 18: 24,404,831 (GRCm39) probably benign Het
Glmn A G 5: 107,720,243 (GRCm39) F212S probably damaging Het
Gm3604 A T 13: 62,517,025 (GRCm39) N444K probably damaging Het
Gvin-ps5 A C 7: 105,928,888 (GRCm39) D336E probably damaging Het
H1f2 T C 13: 23,923,385 (GRCm39) V185A unknown Het
H1f3 A G 13: 23,739,690 (GRCm39) probably benign Het
H2-M10.3 T C 17: 36,678,390 (GRCm39) D145G probably damaging Het
Hic2 T A 16: 17,076,857 (GRCm39) L562Q probably damaging Het
Hip1r G T 5: 124,139,907 (GRCm39) E1003D probably damaging Het
Hsfy2 C T 1: 56,676,342 (GRCm39) C65Y probably benign Het
Inpp1 T C 1: 52,833,788 (GRCm39) T103A probably damaging Het
Ints5 T C 19: 8,872,260 (GRCm39) V73A probably damaging Het
Iqch A T 9: 63,455,298 (GRCm39) D166E probably benign Het
Klhdc3 A T 17: 46,988,901 (GRCm39) N96K probably damaging Het
Klk1b8 C T 7: 43,603,272 (GRCm39) probably benign Het
Klrb1 T C 6: 128,700,036 (GRCm39) probably null Het
Krt71 C A 15: 101,643,901 (GRCm39) G446* probably null Het
Lars1 G A 18: 42,343,115 (GRCm39) R1101C probably damaging Het
Lemd3 G T 10: 120,814,845 (GRCm39) S129R probably damaging Het
Lrp1b A G 2: 40,748,453 (GRCm39) L3015P probably damaging Het
Mdga2 T C 12: 66,533,482 (GRCm39) probably benign Het
Mlst8 A T 17: 24,696,195 (GRCm39) I178N probably damaging Het
Mon2 A T 10: 122,874,388 (GRCm39) I320N probably damaging Het
Morc2b T C 17: 33,356,464 (GRCm39) Y436C probably damaging Het
Moxd1 T A 10: 24,155,781 (GRCm39) M295K probably benign Het
Mrps5 T A 2: 127,438,817 (GRCm39) probably null Het
Mtor C A 4: 148,552,730 (GRCm39) S744R probably damaging Het
Myo3a T A 2: 22,246,037 (GRCm39) D61E probably damaging Het
Nars1 C T 18: 64,633,635 (GRCm39) R545Q probably damaging Het
Ncoa6 A G 2: 155,248,741 (GRCm39) V1521A possibly damaging Het
Ndor1 T C 2: 25,145,305 (GRCm39) E20G possibly damaging Het
Nipsnap3b T C 4: 53,017,213 (GRCm39) probably benign Het
Notch3 G T 17: 32,385,652 (GRCm39) A39E probably benign Het
Or1j16 A G 2: 36,530,227 (GRCm39) M59V possibly damaging Het
Or2a14 T C 6: 43,130,911 (GRCm39) I224T possibly damaging Het
Or6z3 G T 7: 6,464,144 (GRCm39) W212L probably benign Het
Otud3 T C 4: 138,625,343 (GRCm39) K237R possibly damaging Het
Papola T A 12: 105,794,532 (GRCm39) probably null Het
Parl T A 16: 20,121,077 (GRCm39) M1L possibly damaging Het
Parp14 G T 16: 35,678,671 (GRCm39) N432K probably benign Het
Patz1 T G 11: 3,241,088 (GRCm39) S159A probably damaging Het
Prpf6 T G 2: 181,273,870 (GRCm39) M338R probably benign Het
Psd3 A G 8: 68,149,727 (GRCm39) L343P probably damaging Het
Ptpn23 A T 9: 110,215,393 (GRCm39) N1422K probably damaging Het
Rab19 A T 6: 39,361,016 (GRCm39) T55S probably benign Het
Sh3yl1 A G 12: 30,972,332 (GRCm39) K34E possibly damaging Het
Skint8 T A 4: 111,807,278 (GRCm39) F321L possibly damaging Het
Slc25a46 A T 18: 31,733,294 (GRCm39) probably null Het
Slc26a3 T C 12: 31,500,815 (GRCm39) L184S probably damaging Het
Slc39a10 A T 1: 46,874,334 (GRCm39) S323T possibly damaging Het
Sorbs2 G T 8: 46,198,775 (GRCm39) R20L probably benign Het
Stk32a A T 18: 43,345,090 (GRCm39) D13V probably benign Het
Tab2 T C 10: 7,795,094 (GRCm39) T463A probably damaging Het
Tenm2 T A 11: 35,938,374 (GRCm39) N1433I possibly damaging Het
Tmem200c A T 17: 69,147,956 (GRCm39) I180F probably damaging Het
Tmem232 G T 17: 65,791,482 (GRCm39) H129N probably benign Het
Tmem242 T C 17: 5,489,854 (GRCm39) T47A possibly damaging Het
Ube2d1 A T 10: 71,120,953 (GRCm39) M1K probably null Het
Ube2frt A G 12: 36,140,595 (GRCm39) probably benign Het
Uckl1 T C 2: 181,212,320 (GRCm39) Q332R probably benign Het
Unc5b T C 10: 60,605,044 (GRCm39) probably benign Het
Vmn2r114 T C 17: 23,530,086 (GRCm39) Y107C probably benign Het
Vmn2r82 A T 10: 79,231,890 (GRCm39) S630C probably damaging Het
Wdr25 T A 12: 108,864,467 (GRCm39) V204E probably damaging Het
Xab2 T A 8: 3,666,094 (GRCm39) D227V probably damaging Het
Zfp286 A G 11: 62,674,534 (GRCm39) S104P possibly damaging Het
Zfp345 T C 2: 150,316,741 (GRCm39) D22G probably 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
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
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'- AGTCTCCACAGCAACGTTG -3'
(R):5'- CATTGGCACTGCATTCGCTC -3'

Sequencing Primer
(F):5'- AGCAACGTTGATGTGCACC -3'
(R):5'- GGTGGGAAAAGAAGCCTATTTTAC -3'
Posted On 2014-08-01