Incidental Mutation 'IGL00912:Rer1'
ID27227
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rer1
Ensembl Gene ENSMUSG00000029048
Gene Nameretention in endoplasmic reticulum sorting receptor 1
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00912
Quality Score
Status
Chromosome4
Chromosomal Location155074110-155086382 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 155082665 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000030914 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030914] [ENSMUST00000030915] [ENSMUST00000127457] [ENSMUST00000132367] [ENSMUST00000155775]
Predicted Effect probably null
Transcript: ENSMUST00000030914
SMART Domains Protein: ENSMUSP00000030914
Gene: ENSMUSG00000029048

DomainStartEndE-ValueType
Pfam:Rer1 20 185 4.1e-82 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000030915
SMART Domains Protein: ENSMUSP00000030915
Gene: ENSMUSG00000029049

DomainStartEndE-ValueType
Pfam:MORN 23 35 1.4e-3 PFAM
MORN 37 58 4.11e-6 SMART
MORN 60 81 2.41e-1 SMART
MORN 84 105 1.43e-1 SMART
MORN 107 128 8.05e0 SMART
MORN 130 151 2.06e-6 SMART
MORN 153 174 7.56e-5 SMART
MORN 176 197 1.2e0 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125357
Predicted Effect probably benign
Transcript: ENSMUST00000127457
SMART Domains Protein: ENSMUSP00000116690
Gene: ENSMUSG00000029049

DomainStartEndE-ValueType
Pfam:MORN 23 35 5.5e-4 PFAM
MORN 37 58 4.11e-6 SMART
MORN 60 81 2.41e-1 SMART
MORN 84 105 1.43e-1 SMART
MORN 107 128 8.05e0 SMART
MORN 130 151 2.06e-6 SMART
MORN 153 174 7.56e-5 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129180
Predicted Effect probably benign
Transcript: ENSMUST00000132367
SMART Domains Protein: ENSMUSP00000116794
Gene: ENSMUSG00000029049

DomainStartEndE-ValueType
Pfam:MORN 23 35 6.8e-4 PFAM
MORN 37 58 4.11e-6 SMART
MORN 60 81 2.41e-1 SMART
MORN 84 105 1.43e-1 SMART
MORN 107 128 8.05e0 SMART
MORN 130 151 2.06e-6 SMART
MORN 153 174 7.56e-5 SMART
MORN 176 197 1.2e0 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149796
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155375
Predicted Effect probably benign
Transcript: ENSMUST00000155775
SMART Domains Protein: ENSMUSP00000123207
Gene: ENSMUSG00000029049

DomainStartEndE-ValueType
Pfam:MORN 23 35 2.7e-4 PFAM
MORN 37 58 4.11e-6 SMART
MORN 60 81 2.41e-1 SMART
MORN 93 114 2.06e-6 SMART
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 a multi-pass membrane protein that is localized to the golgi apparatus. It is involved in the retention of endoplasmic reticulum (ER) membrane proteins in the ER and retrieval of ER membrane proteins from the early Golgi compartment to facilitate gamma-secretase complex assembly. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice heterozygous for a gene trap allele exhibit a slight reduction in the size of neuromuscular junctions and muscle fiber diameter. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 12 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 C T 6: 128,552,307 M957I probably benign Het
Cep83 C T 10: 94,737,866 R206* probably null Het
H3f3b A T 11: 116,023,444 I125N probably damaging Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Jag1 G A 2: 137,115,573 T73M probably damaging Het
Mrps35 T A 6: 147,055,921 I148N possibly damaging Het
Nostrin G A 2: 69,182,819 probably benign Het
Scaper A G 9: 55,685,955 L466S probably damaging Het
Tmem87a T C 2: 120,403,936 D42G possibly damaging Het
Ttn G T 2: 76,738,832 T27239K probably damaging Het
Ugt3a1 G A 15: 9,310,612 V327M probably damaging Het
Vmn2r100 A G 17: 19,531,392 T566A possibly damaging Het
Other mutations in Rer1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1355:Rer1 UTSW 4 155075624 missense probably benign 0.00
R1370:Rer1 UTSW 4 155075624 missense probably benign 0.00
R1564:Rer1 UTSW 4 155075593 missense probably damaging 1.00
R1722:Rer1 UTSW 4 155075001 missense probably damaging 0.99
R1907:Rer1 UTSW 4 155078499 missense possibly damaging 0.56
Posted On2013-04-17