Incidental Mutation 'IGL00912:Rer1'
ID 27227
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rer1
Ensembl Gene ENSMUSG00000029048
Gene Name retention in endoplasmic reticulum sorting receptor 1
Synonyms 1110060F11Rik, 5830454N22Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00912
Quality Score
Status
Chromosome 4
Chromosomal Location 155158567-155170839 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 155167122 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000030914 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030914] [ENSMUST00000030915] [ENSMUST00000127457] [ENSMUST00000132367] [ENSMUST00000155775]
AlphaFold Q9CQU3
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: 128,529,270 (GRCm39) M957I probably benign Het
Cep83 C T 10: 94,573,728 (GRCm39) R206* probably null Het
H3f3b A T 11: 115,914,270 (GRCm39) I125N probably damaging Het
Hnrnpm C A 17: 33,868,876 (GRCm39) R517L probably damaging Het
Jag1 G A 2: 136,957,493 (GRCm39) T73M probably damaging Het
Mrps35 T A 6: 146,957,419 (GRCm39) I148N possibly damaging Het
Nostrin G A 2: 69,013,163 (GRCm39) probably benign Het
Scaper A G 9: 55,593,239 (GRCm39) L466S probably damaging Het
Tmem87a T C 2: 120,234,417 (GRCm39) D42G possibly damaging Het
Ttn G T 2: 76,569,176 (GRCm39) T27239K probably damaging Het
Ugt3a1 G A 15: 9,310,698 (GRCm39) V327M probably damaging Het
Vmn2r100 A G 17: 19,751,654 (GRCm39) T566A possibly damaging Het
Other mutations in Rer1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1355:Rer1 UTSW 4 155,160,081 (GRCm39) missense probably benign 0.00
R1370:Rer1 UTSW 4 155,160,081 (GRCm39) missense probably benign 0.00
R1564:Rer1 UTSW 4 155,160,050 (GRCm39) missense probably damaging 1.00
R1722:Rer1 UTSW 4 155,159,458 (GRCm39) missense probably damaging 0.99
R1907:Rer1 UTSW 4 155,162,956 (GRCm39) missense possibly damaging 0.56
R9666:Rer1 UTSW 4 155,160,044 (GRCm39) critical splice donor site probably null
Posted On 2013-04-17