Incidental Mutation 'R4633:Erlin1'
ID349390
Institutional Source Beutler Lab
Gene Symbol Erlin1
Ensembl Gene ENSMUSG00000025198
Gene NameER lipid raft associated 1
Synonyms2810439N09Rik, Spfh1, Keo4
MMRRC Submission 041898-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R4633 (G1)
Quality Score225
Status Validated
Chromosome19
Chromosomal Location44034944-44069785 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 44040765 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Cysteine at position 243 (R243C)
Ref Sequence ENSEMBL: ENSMUSP00000129684 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071698] [ENSMUST00000112028] [ENSMUST00000170801]
Predicted Effect probably damaging
Transcript: ENSMUST00000071698
AA Change: R243C

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000071618
Gene: ENSMUSG00000025198
AA Change: R243C

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: R243C

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000107659
Gene: ENSMUSG00000025198
AA Change: R243C

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: R243C

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000129684
Gene: ENSMUSG00000025198
AA Change: R243C

DomainStartEndE-ValueType
PHB 23 189 1.26e-38 SMART
Blast:PHB 217 253 2e-12 BLAST
low complexity region 254 271 N/A INTRINSIC
Meta Mutation Damage Score 0.2865 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 95% (73/77)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T A 17: 24,387,529 L786Q probably null Het
Abcb6 A T 1: 75,177,782 probably benign Het
Alg10b T C 15: 90,228,294 V447A probably benign Het
Alkbh2 C T 5: 114,124,226 E148K probably damaging Het
B4galt7 A G 13: 55,608,750 H203R probably damaging Het
Ccdc130 T C 8: 84,260,395 T158A probably benign Het
Cd44 T G 2: 102,853,047 D214A possibly damaging Het
Ces1c T C 8: 93,118,386 D275G probably benign Het
Cnot11 G T 1: 39,536,218 W127L probably benign Het
Csmd1 A G 8: 16,002,620 I2168T probably damaging Het
Cyp3a59 T C 5: 146,094,438 F137S probably damaging Het
Dst T A 1: 34,170,434 L1234Q probably damaging Het
Erbb2 T A 11: 98,432,988 I676N possibly damaging Het
Fanci T C 7: 79,427,242 L576P probably damaging Het
Fzd1 A T 5: 4,755,865 Y572* probably null Het
Glg1 C T 8: 111,177,644 probably null Het
Gm884 A T 11: 103,619,131 probably benign Het
Gpr139 A T 7: 119,144,405 I319N probably damaging Het
Hectd4 C A 5: 121,349,216 H3425N probably benign Het
Itga10 A G 3: 96,647,704 D118G possibly damaging Het
Klra13-ps T G 6: 130,291,173 noncoding transcript Het
Krt1 C T 15: 101,846,187 G543S unknown Het
Krt5 T A 15: 101,711,607 D225V probably damaging Het
Krtap4-9 G T 11: 99,785,554 probably benign Het
Lama1 C A 17: 67,798,584 A2029E probably damaging Het
Lrp2 T A 2: 69,461,417 T3473S probably benign Het
Lrriq1 G A 10: 103,200,563 R910* probably null Het
Map1b C T 13: 99,434,942 V424M probably damaging Het
Mkl2 T C 16: 13,379,873 I85T possibly damaging Het
Mylk2 T C 2: 152,917,415 S369P probably benign Het
Myom3 T G 4: 135,775,699 F362L probably benign Het
Nomo1 A G 7: 46,050,260 probably benign Het
Olfr1362 A G 13: 21,611,228 V247A probably damaging Het
Olfr168 C T 16: 19,530,284 G212D possibly damaging Het
Olfr59 T G 11: 74,289,294 M216R probably benign Het
Olfr982 T A 9: 40,074,334 V13E probably damaging Het
Parp4 C T 14: 56,647,591 L1376F unknown Het
Phykpl C A 11: 51,593,608 A208E probably damaging Het
Pla2g15 T C 8: 106,160,255 F126S probably damaging Het
Polq T G 16: 37,048,542 M479R probably damaging Het
Prpf4b A G 13: 34,900,442 T938A probably damaging Het
Psma1 A G 7: 114,271,134 M63T probably damaging Het
Rbpms2 T C 9: 65,651,636 S174P probably benign Het
Rcc1 G T 4: 132,335,769 S162R probably damaging Het
Rev3l T G 10: 39,846,186 L2520R probably damaging Het
Rhobtb1 T A 10: 69,249,613 probably null Het
Rps19 G T 7: 24,889,170 probably benign Het
Rsf1 GCG GCGACGGCGACG 7: 97,579,907 probably benign Het
Selenof C T 3: 144,596,861 R116* probably null Het
Slc16a11 T C 11: 70,216,379 probably null Het
Stk3 A G 15: 34,958,928 V296A probably damaging Het
Taar8b C A 10: 24,092,252 E15* probably null Het
Tas2r102 T A 6: 132,762,679 N183K possibly damaging Het
Tcrg-C4 G T 13: 19,352,287 V172F probably benign Het
Tet2 T A 3: 133,485,549 E1041D probably benign Het
Tm9sf1 A G 14: 55,641,203 V244A probably damaging Het
Trim24 T A 6: 37,956,436 I650K probably damaging Het
Trim59 G T 3: 69,037,414 Q198K probably benign Het
Ttc28 C T 5: 111,224,001 T772I probably damaging Het
Tvp23a C T 16: 10,427,045 V146M probably benign Het
Usp17la A T 7: 104,860,221 D11V possibly damaging Het
Usp48 A G 4: 137,634,900 K32R probably damaging Het
Uspl1 A G 5: 149,214,392 K801E probably damaging Het
Utp20 T C 10: 88,752,952 I2452V probably benign Het
Vps18 T C 2: 119,293,276 L228P probably damaging Het
Zfp410 A T 12: 84,325,736 D112V probably damaging Het
Zfp872 G T 9: 22,197,194 probably null Het
Zswim8 A G 14: 20,718,823 E1110G probably damaging Het
Other mutations in Erlin1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00481:Erlin1 APN 19 44069319 nonsense probably null
IGL00551:Erlin1 APN 19 44059146 missense probably damaging 1.00
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
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
R8062:Erlin1 UTSW 19 44056159 missense probably benign 0.25
R8171:Erlin1 UTSW 19 44069329 missense probably benign
R8519:Erlin1 UTSW 19 44069602 unclassified probably benign
Predicted Primers PCR Primer
(F):5'- AGCACATGCCTAAAAGCTTTTC -3'
(R):5'- CCTCTCAATCGTTTCAGAACAG -3'

Sequencing Primer
(F):5'- AACTATCACATGGGTCTGCG -3'
(R):5'- CGTTTCAGAACAGATAAAACCTTGG -3'
Posted On2015-10-08