Incidental Mutation 'R1915:Erlin1'
ID 214822
Institutional Source Beutler Lab
Gene Symbol Erlin1
Ensembl Gene ENSMUSG00000025198
Gene Name ER lipid raft associated 1
Synonyms Spfh1, Keo4, 2810439N09Rik
MMRRC Submission 039933-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1915 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 44023383-44058224 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 44047504 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 139 (Y139C)
Ref Sequence ENSEMBL: ENSMUSP00000131012 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071698] [ENSMUST00000112028] [ENSMUST00000170801] [ENSMUST00000171952] [ENSMUST00000172041]
AlphaFold Q91X78
Predicted Effect probably damaging
Transcript: ENSMUST00000071698
AA Change: Y139C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000071618
Gene: ENSMUSG00000025198
AA Change: Y139C

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: Y139C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107659
Gene: ENSMUSG00000025198
AA Change: Y139C

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: Y139C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129684
Gene: ENSMUSG00000025198
AA Change: Y139C

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: Y139C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131012
Gene: ENSMUSG00000025198
AA Change: Y139C

DomainStartEndE-ValueType
PHB 23 158 8.76e-15 SMART
Predicted Effect
SMART Domains Protein: ENSMUSP00000126271
Gene: ENSMUSG00000025198
AA Change: Y55C

DomainStartEndE-ValueType
Blast:PHB 14 59 4e-16 BLAST
Meta Mutation Damage Score 0.8696 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.6%
  • 20x: 93.4%
Validation Efficiency 100% (85/85)
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T C 11: 110,103,036 (GRCm39) R852G probably benign Het
Adam2 C A 14: 66,275,006 (GRCm39) V576F possibly damaging Het
Afmid T C 11: 117,726,625 (GRCm39) F250L possibly damaging Het
Apc2 A T 10: 80,151,701 (GRCm39) I2252L probably benign Het
Bcar1 A G 8: 112,442,030 (GRCm39) V270A probably damaging Het
Btnl7-ps T A 17: 34,760,619 (GRCm39) noncoding transcript Het
Cdkn2aip T C 8: 48,164,961 (GRCm39) T251A probably benign Het
Cdx1 A G 18: 61,152,970 (GRCm39) V212A probably benign Het
Cep95 C T 11: 106,705,464 (GRCm39) T483I probably damaging Het
Cfap100 T C 6: 90,389,329 (GRCm39) probably benign Het
Cfap54 A G 10: 92,720,564 (GRCm39) V2630A unknown Het
Chia1 T A 3: 106,035,875 (GRCm39) N238K probably benign Het
Cldn23 T A 8: 36,293,099 (GRCm39) I130F possibly damaging Het
Cntrl T C 2: 35,052,873 (GRCm39) M1126T probably benign Het
Col28a1 A G 6: 8,176,333 (GRCm39) F8S probably benign Het
Cpeb3 C T 19: 37,031,665 (GRCm39) R579Q probably damaging Het
Creld2 G A 15: 88,704,834 (GRCm39) W103* probably null Het
Dbh A G 2: 27,058,234 (GRCm39) D134G probably damaging Het
Dcbld1 G T 10: 52,193,131 (GRCm39) C292F probably damaging Het
Dlgap5 T C 14: 47,645,230 (GRCm39) K304E probably benign Het
Dnajc2 A G 5: 21,986,317 (GRCm39) probably null Het
Eps8l2 G A 7: 140,941,765 (GRCm39) V650M probably damaging Het
Exoc3 A G 13: 74,321,413 (GRCm39) probably null Het
F5 C A 1: 164,010,486 (GRCm39) R406S probably damaging Het
Fahd1 A T 17: 25,068,622 (GRCm39) W152R possibly damaging Het
Farp2 T A 1: 93,456,424 (GRCm39) S36T probably benign Het
Foxs1 A G 2: 152,774,760 (GRCm39) C98R probably damaging Het
Gal3st4 T A 5: 138,263,672 (GRCm39) K442N probably benign Het
Gm10644 G A 8: 84,660,479 (GRCm39) probably benign Het
Gm8674 A T 13: 50,054,889 (GRCm39) noncoding transcript Het
Gpr88 G T 3: 116,046,073 (GRCm39) S79R possibly damaging Het
Heatr9 T G 11: 83,409,035 (GRCm39) I171L possibly damaging Het
Hectd4 A G 5: 121,460,357 (GRCm39) T2209A probably benign Het
Hsh2d A G 8: 72,947,365 (GRCm39) T21A probably damaging Het
Irf4 A T 13: 30,945,445 (GRCm39) Q397L probably benign Het
Itgae T A 11: 73,009,469 (GRCm39) probably benign Het
Jrkl A T 9: 13,245,609 (GRCm39) D17E possibly damaging Het
Kcna4 T C 2: 107,127,123 (GRCm39) V619A probably benign Het
Kcnh6 T A 11: 105,908,270 (GRCm39) Y295* probably null Het
Kif1b G A 4: 149,351,673 (GRCm39) T263I probably damaging Het
Large2 G T 2: 92,196,170 (GRCm39) probably benign Het
Lcp1 T A 14: 75,436,737 (GRCm39) Y28N possibly damaging Het
Man1c1 G C 4: 134,430,749 (GRCm39) P11R probably damaging Het
Mccc2 T C 13: 100,085,038 (GRCm39) probably null Het
Mlh3 T C 12: 85,308,442 (GRCm39) Y1115C probably benign Het
Mlst8 C T 17: 24,696,264 (GRCm39) W155* probably null Het
Myh10 T C 11: 68,681,034 (GRCm39) L1025P probably damaging Het
Myof T A 19: 37,966,141 (GRCm39) N393I probably damaging Het
Nalcn C T 14: 123,540,181 (GRCm39) V1140I probably benign Het
Ncald C T 15: 37,397,324 (GRCm39) A119T probably benign Het
Nipbl T C 15: 8,373,114 (GRCm39) E1044G possibly damaging Het
Nup58 T C 14: 60,475,980 (GRCm39) K279R probably benign Het
Oas1a A T 5: 121,043,876 (GRCm39) N85K possibly damaging Het
Or11g1 C T 14: 50,651,798 (GRCm39) P266S probably damaging Het
Or8b12i T C 9: 20,082,324 (GRCm39) Y181C probably benign Het
Or8k30 A G 2: 86,339,343 (GRCm39) D180G probably damaging Het
Pou2f2 C T 7: 24,799,581 (GRCm39) A92T possibly damaging Het
Ppp1r16a T C 15: 76,577,268 (GRCm39) L212P probably damaging Het
Pram1 A T 17: 33,860,131 (GRCm39) I233F probably benign Het
Ptbp3 A T 4: 59,517,635 (GRCm39) L84Q probably damaging Het
Ptgr2 A T 12: 84,349,096 (GRCm39) Q145L probably benign Het
Ptpn23 A T 9: 110,215,575 (GRCm39) D1396E probably damaging Het
Pudp T C 18: 50,701,278 (GRCm39) N152D probably benign Het
Rbm20 T A 19: 53,852,518 (GRCm39) L1166Q probably damaging Het
Rictor T G 15: 6,789,053 (GRCm39) I223R probably damaging Het
Ripor1 A T 8: 106,343,518 (GRCm39) E270D probably damaging Het
Rorc T C 3: 94,298,480 (GRCm39) C322R probably damaging Het
Rpgrip1l T C 8: 91,959,552 (GRCm39) D1116G probably benign Het
Rsf1 GCG GCGACGGCGACG 7: 97,229,114 (GRCm39) probably benign Het
Sptan1 C G 2: 29,901,048 (GRCm39) Q1425E probably benign Het
Srd5a3 G A 5: 76,295,552 (GRCm39) V81I probably benign Het
Stk36 T A 1: 74,673,346 (GRCm39) S1080T probably benign Het
Sugp2 T A 8: 70,706,310 (GRCm39) I790K probably damaging Het
Syde2 T G 3: 145,720,071 (GRCm39) Y764* probably null Het
Tmem130 A G 5: 144,674,666 (GRCm39) F353S probably damaging Het
Tmem131 T A 1: 36,835,347 (GRCm39) K1591N probably damaging Het
Urb2 C A 8: 124,756,537 (GRCm39) T748K possibly damaging Het
Uri1 A T 7: 37,661,103 (GRCm39) I480K probably damaging Het
Zcchc3 A C 2: 152,255,601 (GRCm39) V366G probably benign Het
Zfp292 G A 4: 34,805,100 (GRCm39) S2648F possibly damaging Het
Zfp54 T C 17: 21,654,414 (GRCm39) Y303H probably benign Het
Zfp729b A G 13: 67,741,339 (GRCm39) F319L probably damaging Het
Zfp934 G A 13: 62,665,769 (GRCm39) H291Y probably 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
IGL02669:Erlin1 APN 19 44,027,658 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- GATAGCTACAGTGTACTCGCATAC -3'
(R):5'- AGTCTTTCATTGCTGAGTCTGAAG -3'

Sequencing Primer
(F):5'- CCAAATGGCCCAAGGTTT -3'
(R):5'- CATTGCTGAGTCTGAAGATAGTTG -3'
Posted On 2014-07-14