Incidental Mutation 'IGL00551:Erlin1'
ID3174
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Erlin1
Ensembl Gene ENSMUSG00000025198
Gene NameER lipid raft associated 1
Synonyms2810439N09Rik, Spfh1, Keo4
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00551
Quality Score
Status
Chromosome19
Chromosomal Location44034944-44069785 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 44059146 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 112 (D112G)
Ref Sequence ENSEMBL: ENSMUSP00000129684 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071698] [ENSMUST00000112028] [ENSMUST00000170801] [ENSMUST00000171952] [ENSMUST00000172041]
Predicted Effect probably damaging
Transcript: ENSMUST00000071698
AA Change: D112G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000071618
Gene: ENSMUSG00000025198
AA Change: D112G

DomainStartEndE-ValueType
PHB 23 189 1.26e-38 SMART
Blast:PHB 217 253 2e-12 BLAST
low complexity region 254 271 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000112028
AA Change: D112G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000107659
Gene: ENSMUSG00000025198
AA Change: D112G

DomainStartEndE-ValueType
PHB 23 189 1.26e-38 SMART
Blast:PHB 217 253 2e-12 BLAST
low complexity region 254 271 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000170801
AA Change: D112G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000129684
Gene: ENSMUSG00000025198
AA Change: D112G

DomainStartEndE-ValueType
PHB 23 189 1.26e-38 SMART
Blast:PHB 217 253 2e-12 BLAST
low complexity region 254 271 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000171952
SMART Domains Protein: ENSMUSP00000127971
Gene: ENSMUSG00000025198

DomainStartEndE-ValueType
low complexity region 6 23 N/A INTRINSIC
Blast:PHB 24 66 3e-24 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000172041
AA Change: D112G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000131012
Gene: ENSMUSG00000025198
AA Change: D112G

DomainStartEndE-ValueType
PHB 23 158 8.76e-15 SMART
Predicted Effect unknown
Transcript: ENSMUST00000172262
AA Change: D28G
SMART Domains Protein: ENSMUSP00000126271
Gene: ENSMUSG00000025198
AA Change: D28G

DomainStartEndE-ValueType
Blast:PHB 14 59 4e-16 BLAST
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 part of a protein complex that mediates degradation of inositol 1,4,5-trisphosphate receptors in the endoplasmic reticulum. The encoded protein also binds cholesterol and regulates the SREBP signaling pathway, which promotes cellular cholesterol homeostasis. Defects in this gene have been associated with spastic paraplegia 62. [provided by RefSeq, Dec 2016]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Art2b C T 7: 101,580,569 C41Y probably damaging Het
Btk A G X: 134,573,934 Y42H probably damaging Het
Cacna1e T C 1: 154,403,683 D1720G probably damaging Het
Ccr5 T C 9: 124,124,588 I76T probably damaging Het
Chd3 A G 11: 69,346,629 V1913A probably damaging Het
Dmxl2 A G 9: 54,450,838 Y526H probably damaging Het
Dnah8 A T 17: 30,663,478 K675* probably null Het
Eif2b1 A G 5: 124,576,869 F115L probably damaging Het
Fabp12 A G 3: 10,246,055 probably benign Het
Fam47c A G X: 78,738,454 E214G probably damaging Het
Fkbp5 G T 17: 28,401,046 probably benign Het
Hist1h1c C A 13: 23,738,845 probably benign Het
Kidins220 G T 12: 25,038,560 probably benign Het
Limd2 T C 11: 106,159,205 E15G probably benign Het
Mga T A 2: 119,919,814 C696S possibly damaging Het
Naa16 A G 14: 79,355,729 F468L probably damaging Het
Ndufaf1 A G 2: 119,660,469 S37P probably damaging Het
Phrf1 A G 7: 141,258,877 probably benign Het
Prr14 A G 7: 127,474,647 T228A probably benign Het
Rfc1 A T 5: 65,296,009 F265L probably benign Het
Selenos A G 7: 66,087,194 E137G probably benign Het
Tars T C 15: 11,388,221 probably null Het
Tpcn1 A G 5: 120,560,325 I44T probably benign Het
Usp26 A G X: 51,757,305 V31A probably benign Het
Other mutations in Erlin1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00481:Erlin1 APN 19 44069319 nonsense probably null
IGL01975:Erlin1 APN 19 44036931 missense probably damaging 1.00
IGL02171:Erlin1 APN 19 44049116 splice site probably benign
IGL02525:Erlin1 APN 19 44039195 missense probably benign 0.04
IGL02669:Erlin1 APN 19 44039219 missense probably damaging 1.00
IGL02939:Erlin1 APN 19 44063052 missense probably damaging 1.00
R1598:Erlin1 UTSW 19 44047673 missense probably damaging 1.00
R1911:Erlin1 UTSW 19 44049122 missense probably damaging 0.99
R1914:Erlin1 UTSW 19 44059065 missense probably damaging 1.00
R1915:Erlin1 UTSW 19 44059065 missense probably damaging 1.00
R4153:Erlin1 UTSW 19 44067617 missense probably benign 0.11
R4584:Erlin1 UTSW 19 44069319 nonsense probably null
R4607:Erlin1 UTSW 19 44063035 missense probably damaging 1.00
R4633:Erlin1 UTSW 19 44040765 missense probably damaging 0.99
R4645:Erlin1 UTSW 19 44069320 missense probably damaging 0.99
R4652:Erlin1 UTSW 19 44040792 nonsense probably null
R6550:Erlin1 UTSW 19 44037163 splice site probably null
R7320:Erlin1 UTSW 19 44059065 missense probably damaging 1.00
Posted On2012-04-20