Incidental Mutation 'IGL02669:Erlin1'
ID 302837
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Erlin1
Ensembl Gene ENSMUSG00000025198
Gene Name ER lipid raft associated 1
Synonyms Spfh1, Keo4, 2810439N09Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02669
Quality Score
Status
Chromosome 19
Chromosomal Location 44023383-44058224 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 44027658 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glutamic Acid at position 260 (A260E)
Ref Sequence ENSEMBL: ENSMUSP00000129684 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071698] [ENSMUST00000112028] [ENSMUST00000170801]
AlphaFold Q91X78
Predicted Effect probably damaging
Transcript: ENSMUST00000071698
AA Change: A260E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000071618
Gene: ENSMUSG00000025198
AA Change: A260E

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: A260E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000107659
Gene: ENSMUSG00000025198
AA Change: A260E

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: A260E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000129684
Gene: ENSMUSG00000025198
AA Change: A260E

DomainStartEndE-ValueType
PHB 23 189 1.26e-38 SMART
Blast:PHB 217 253 2e-12 BLAST
low complexity region 254 271 N/A INTRINSIC
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930003A15Rik T A 16: 19,702,505 (GRCm39) noncoding transcript Het
Acap1 G A 11: 69,785,421 (GRCm39) probably benign Het
Adam7 T C 14: 68,745,343 (GRCm39) Y627C probably damaging Het
Agrn C T 4: 156,259,018 (GRCm39) probably benign Het
Aoc1l2 A G 6: 48,908,407 (GRCm39) Y469C probably damaging Het
Bace2 T C 16: 97,238,093 (GRCm39) *515R probably null Het
Baiap3 C T 17: 25,463,322 (GRCm39) V958M probably damaging Het
Brms1l A T 12: 55,888,401 (GRCm39) D63V probably damaging Het
Cnksr1 A T 4: 133,957,774 (GRCm39) I435N probably damaging Het
Col14a1 G A 15: 55,282,178 (GRCm39) G813E unknown Het
Cpne6 A G 14: 55,751,283 (GRCm39) N201S probably benign Het
Dnajc12 A G 10: 63,233,071 (GRCm39) S71G probably damaging Het
Dpp3 A T 19: 4,973,710 (GRCm39) probably null Het
E2f3 A G 13: 30,100,974 (GRCm39) S239P probably benign Het
Eif3e T A 15: 43,146,088 (GRCm39) M1L probably benign Het
Erap1 A G 13: 74,823,987 (GRCm39) T867A probably benign Het
Esrp1 A G 4: 11,386,324 (GRCm39) V38A possibly damaging Het
Foxn1 T C 11: 78,261,986 (GRCm39) R128G probably damaging Het
Gnb3 A G 6: 124,814,688 (GRCm39) L70P probably benign Het
Gon4l T C 3: 88,802,806 (GRCm39) V1139A probably damaging Het
Gpt2 G T 8: 86,249,908 (GRCm39) M463I probably benign Het
Gtpbp3 C A 8: 71,943,546 (GRCm39) A201D probably damaging Het
Jaml A C 9: 45,015,489 (GRCm39) K331T possibly damaging Het
Kntc1 G A 5: 123,893,727 (GRCm39) probably benign Het
Ksr2 A G 5: 117,693,446 (GRCm39) K298R probably damaging Het
Mfge8 T C 7: 78,795,429 (GRCm39) D46G probably benign Het
Ncam2 T A 16: 81,314,429 (GRCm39) N468K probably benign Het
Nup88 A G 11: 70,847,110 (GRCm39) M300T probably damaging Het
Or4c118 T A 2: 88,974,564 (GRCm39) K268* probably null Het
Or4k48 A T 2: 111,476,236 (GRCm39) Y35* probably null Het
Or52b4 A G 7: 102,184,868 (GRCm39) M305V probably benign Het
Prdm1 A T 10: 44,315,880 (GRCm39) M752K probably benign Het
Prl3b1 A T 13: 27,429,795 (GRCm39) M78L probably benign Het
Ralgps2 T C 1: 156,660,268 (GRCm39) E268G probably damaging Het
Rgs11 G A 17: 26,426,605 (GRCm39) V279I probably benign Het
Slc4a5 A G 6: 83,240,525 (GRCm39) D279G possibly damaging Het
Tanc1 T A 2: 59,630,330 (GRCm39) I770K probably damaging Het
Tbl2 G A 5: 135,181,852 (GRCm39) R64H probably damaging Het
Tg T A 15: 66,620,575 (GRCm39) probably benign Het
Tmprss13 A T 9: 45,243,824 (GRCm39) I187F probably benign Het
Tubb3 T C 8: 124,147,856 (GRCm39) L263P probably damaging Het
Vmn2r109 T G 17: 20,774,518 (GRCm39) D279A possibly damaging Het
Vps33b A G 7: 79,925,786 (GRCm39) probably benign Het
Yeats2 A G 16: 20,005,033 (GRCm39) S338G probably benign Het
Zfp142 T C 1: 74,610,432 (GRCm39) Q1121R probably benign Het
Zic1 G T 9: 91,246,486 (GRCm39) H195Q possibly damaging Het
Other mutations in Erlin1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00481:Erlin1 APN 19 44,057,758 (GRCm39) nonsense probably null
IGL00551:Erlin1 APN 19 44,047,585 (GRCm39) missense probably damaging 1.00
IGL01975:Erlin1 APN 19 44,025,370 (GRCm39) missense probably damaging 1.00
IGL02171:Erlin1 APN 19 44,037,555 (GRCm39) splice site probably benign
IGL02525:Erlin1 APN 19 44,027,634 (GRCm39) missense probably benign 0.04
IGL02939:Erlin1 APN 19 44,051,491 (GRCm39) missense probably damaging 1.00
R1598:Erlin1 UTSW 19 44,036,112 (GRCm39) missense probably damaging 1.00
R1911:Erlin1 UTSW 19 44,037,561 (GRCm39) missense probably damaging 0.99
R1914:Erlin1 UTSW 19 44,047,504 (GRCm39) missense probably damaging 1.00
R1915:Erlin1 UTSW 19 44,047,504 (GRCm39) missense probably damaging 1.00
R4153:Erlin1 UTSW 19 44,056,056 (GRCm39) missense probably benign 0.11
R4584:Erlin1 UTSW 19 44,057,758 (GRCm39) nonsense probably null
R4607:Erlin1 UTSW 19 44,051,474 (GRCm39) missense probably damaging 1.00
R4633:Erlin1 UTSW 19 44,029,204 (GRCm39) missense probably damaging 0.99
R4645:Erlin1 UTSW 19 44,057,759 (GRCm39) missense probably damaging 0.99
R4652:Erlin1 UTSW 19 44,029,231 (GRCm39) nonsense probably null
R6550:Erlin1 UTSW 19 44,025,602 (GRCm39) splice site probably null
R7320:Erlin1 UTSW 19 44,047,504 (GRCm39) missense probably damaging 1.00
R8062:Erlin1 UTSW 19 44,044,598 (GRCm39) missense probably benign 0.25
R8171:Erlin1 UTSW 19 44,057,768 (GRCm39) missense probably benign
R8519:Erlin1 UTSW 19 44,058,041 (GRCm39) unclassified probably benign
R9223:Erlin1 UTSW 19 44,029,184 (GRCm39) critical splice donor site probably null
Posted On 2015-04-16