Incidental Mutation 'IGL00825:Ern1'
ID12607
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ern1
Ensembl Gene ENSMUSG00000020715
Gene Nameendoplasmic reticulum (ER) to nucleus signalling 1
SynonymsIre1a, Ire1alpha, 9030414B18Rik, Ire1p
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00825
Quality Score
Status
Chromosome11
Chromosomal Location106394650-106487852 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 106421967 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Arginine at position 196 (K196R)
Ref Sequence ENSEMBL: ENSMUSP00000102413 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001059] [ENSMUST00000106801]
Predicted Effect probably benign
Transcript: ENSMUST00000001059
AA Change: K196R

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000001059
Gene: ENSMUSG00000020715
AA Change: K196R

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
AA Change: K196R

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000102413
Gene: ENSMUSG00000020715
AA Change: K196R

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
Validation Efficiency
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: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd3 C T 18: 10,704,657 V129M probably benign Het
Casp8 G A 1: 58,829,006 S202N probably benign Het
Clec2g C A 6: 128,980,181 probably null Het
Dnah7b T C 1: 46,224,651 Y2098H probably damaging Het
Dzip3 T C 16: 48,928,415 K1053E probably damaging Het
Jcad A T 18: 4,673,516 Y426F probably damaging Het
Kansl1l T C 1: 66,801,512 T210A probably benign Het
Map2k2 G A 10: 81,118,218 V173I probably benign Het
Odf3l1 A G 9: 56,851,691 I60T probably benign Het
P3h2 A G 16: 25,992,798 I225T probably damaging Het
Pld2 G A 11: 70,551,180 W337* probably null Het
Ppp2r2b C T 18: 42,645,775 V429M probably damaging Het
Pprc1 G T 19: 46,071,406 probably benign Het
Ptpn4 A G 1: 119,659,925 probably benign Het
Rap1gds1 T A 3: 138,983,827 I135F possibly damaging Het
Rasa2 A T 9: 96,570,719 N371K probably benign Het
Rbbp8 A G 18: 11,722,607 T604A probably benign Het
Safb2 A G 17: 56,571,208 probably null Het
Sec23ip C A 7: 128,767,609 L686I probably damaging Het
Slc22a6 T C 19: 8,618,357 V21A possibly damaging Het
Slco1c1 A T 6: 141,542,142 N79Y probably damaging Het
Tbl1xr1 G T 3: 22,189,786 probably null Het
Zfp961 T A 8: 71,968,044 C134S possibly damaging Het
Other mutations in Ern1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01938:Ern1 APN 11 106411657 missense probably benign
IGL02813:Ern1 APN 11 106423425 missense probably damaging 1.00
IGL02928:Ern1 APN 11 106405879 splice site probably benign
IGL02931:Ern1 APN 11 106423440 missense probably damaging 1.00
IGL03153:Ern1 APN 11 106410098 missense possibly damaging 0.63
Immoderate UTSW 11 106420042 missense possibly damaging 0.93
Militant UTSW 11 106411652 missense probably damaging 1.00
K7371:Ern1 UTSW 11 106400275 missense probably damaging 1.00
R0090:Ern1 UTSW 11 106405823 missense probably damaging 1.00
R0391:Ern1 UTSW 11 106407178 nonsense probably null
R0411:Ern1 UTSW 11 106398586 missense probably benign
R0627:Ern1 UTSW 11 106398693 missense probably benign 0.00
R1416:Ern1 UTSW 11 106421980 splice site probably benign
R1831:Ern1 UTSW 11 106399842 splice site probably null
R1837:Ern1 UTSW 11 106458957 missense probably damaging 1.00
R1944:Ern1 UTSW 11 106421950 missense probably damaging 1.00
R1945:Ern1 UTSW 11 106421950 missense probably damaging 1.00
R1954:Ern1 UTSW 11 106421974 splice site probably benign
R1957:Ern1 UTSW 11 106426897 missense probably damaging 1.00
R2192:Ern1 UTSW 11 106409924 missense probably benign
R4276:Ern1 UTSW 11 106407181 missense probably benign
R4277:Ern1 UTSW 11 106407181 missense probably benign
R4471:Ern1 UTSW 11 106420042 missense possibly damaging 0.93
R4583:Ern1 UTSW 11 106407205 missense probably damaging 1.00
R4731:Ern1 UTSW 11 106434850 intron probably benign
R5177:Ern1 UTSW 11 106411775 missense probably benign 0.01
R5489:Ern1 UTSW 11 106407529 missense probably damaging 1.00
R5538:Ern1 UTSW 11 106421901 missense possibly damaging 0.83
R5806:Ern1 UTSW 11 106398705 missense probably damaging 0.96
R5922:Ern1 UTSW 11 106421730 missense probably damaging 0.97
R5931:Ern1 UTSW 11 106426873 missense possibly damaging 0.86
R5990:Ern1 UTSW 11 106411769 missense probably benign
R6149:Ern1 UTSW 11 106405815 nonsense probably null
R6253:Ern1 UTSW 11 106426908 missense possibly damaging 0.89
R6721:Ern1 UTSW 11 106411652 missense probably damaging 1.00
R6957:Ern1 UTSW 11 106403539 missense probably damaging 1.00
R7362:Ern1 UTSW 11 106437123 missense probably damaging 1.00
R7387:Ern1 UTSW 11 106421952 missense probably damaging 0.98
R7494:Ern1 UTSW 11 106407535 missense probably damaging 1.00
R7514:Ern1 UTSW 11 106409893 critical splice donor site probably null
R7767:Ern1 UTSW 11 106400308 missense probably damaging 1.00
R7811:Ern1 UTSW 11 106434868 missense unknown
X0021:Ern1 UTSW 11 106398606 missense probably damaging 1.00
X0022:Ern1 UTSW 11 106458919 missense probably damaging 1.00
Posted On2012-12-06