Incidental Mutation 'R7996:Derl1'
ID 616110
Institutional Source Beutler Lab
Gene Symbol Derl1
Ensembl Gene ENSMUSG00000022365
Gene Name Der1-like domain family, member 1
Synonyms Derlin-1, 1110021N07Rik
MMRRC Submission 046036-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7996 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 57732898-57755814 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 57741970 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 122 (M122L)
Ref Sequence ENSEMBL: ENSMUSP00000022993 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022993]
AlphaFold Q99J56
Predicted Effect probably benign
Transcript: ENSMUST00000022993
AA Change: M122L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000022993
Gene: ENSMUSG00000022365
AA Change: M122L

DomainStartEndE-ValueType
Pfam:DER1 11 204 1.7e-68 PFAM
low complexity region 233 245 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
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 member of the derlin family. Members of this family participate in the ER-associated degradation response and retrotranslocate misfolded or unfolded proteins from the ER lumen to the cytosol for proteasomal degradation. This protein recognizes substrate in the ER and works in a complex to retrotranslocate it across the ER membrane into the cytosol. This protein may select cystic fibrosis transmembrane conductance regulator protein (CFTR) for degradation as well as unfolded proteins in Alzheimer's disease. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Aug 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit lethality during embryogenesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg5 A T 17: 84,977,490 (GRCm39) N394K probably damaging Het
Amotl1 T C 9: 14,505,001 (GRCm39) D69G possibly damaging Het
Arid5a G T 1: 36,356,526 (GRCm39) C121F unknown Het
Ccne2 C A 4: 11,201,347 (GRCm39) Q292K probably benign Het
Cfap70 A G 14: 20,459,194 (GRCm39) I723T probably benign Het
Chrnd A G 1: 87,118,828 (GRCm39) T62A probably damaging Het
Cobll1 T A 2: 64,981,329 (GRCm39) H87L possibly damaging Het
Dnah5 T A 15: 28,409,323 (GRCm39) N3580K probably damaging Het
Efcab12 T C 6: 115,800,378 (GRCm39) Q215R probably benign Het
Eif3m T C 2: 104,831,694 (GRCm39) N289D probably benign Het
Elapor2 A C 5: 9,512,881 (GRCm39) K958N probably damaging Het
Emsy T A 7: 98,242,888 (GRCm39) I1084L probably benign Het
Garin3 T C 11: 46,295,889 (GRCm39) V87A Het
Garre1 G T 7: 33,963,024 (GRCm39) T216K possibly damaging Het
Gm3336 A T 8: 71,173,146 (GRCm39) T53S unknown Het
Gpr137b T C 13: 13,533,991 (GRCm39) Y355C Het
Hr G A 14: 70,801,043 (GRCm39) W676* probably null Het
Katnb1 A T 8: 95,824,643 (GRCm39) I546F possibly damaging Het
Memo1 A T 17: 74,565,491 (GRCm39) L24Q probably damaging Het
Mmel1 C G 4: 154,976,912 (GRCm39) Q529E probably benign Het
Naip5 A G 13: 100,358,164 (GRCm39) F1024S probably damaging Het
Or4c58 T C 2: 89,674,759 (GRCm39) D186G probably benign Het
Or7c70 A T 10: 78,683,155 (GRCm39) V198E probably damaging Het
Paics A G 5: 77,107,276 (GRCm39) K110R probably benign Het
Pate13 G A 9: 35,820,650 (GRCm39) R34H probably damaging Het
Pcdhgc4 C T 18: 37,950,459 (GRCm39) S625F probably damaging Het
Pnpla8 T A 12: 44,329,766 (GRCm39) L106* probably null Het
Rabggtb T C 3: 153,617,605 (GRCm39) H31R probably damaging Het
Rhot1 G A 11: 80,148,363 (GRCm39) C601Y probably damaging Het
Rps27 A G 3: 90,120,309 (GRCm39) V53A probably benign Het
Sdr39u1 C A 14: 56,135,344 (GRCm39) G200* probably null Het
Sesn1 T A 10: 41,770,929 (GRCm39) Y153* probably null Het
Slc25a40 A G 5: 8,493,653 (GRCm39) T168A probably damaging Het
Smoc2 C T 17: 14,595,730 (GRCm39) R286* probably null Het
Smtnl2 T A 11: 72,291,200 (GRCm39) K349N probably damaging Het
Snx16 G T 3: 10,500,509 (GRCm39) D153E probably benign Het
Spata31e5 C T 1: 28,817,487 (GRCm39) E182K probably damaging Het
Ssu72 A C 4: 155,816,450 (GRCm39) N144T probably benign Het
Stk40 C A 4: 126,030,667 (GRCm39) L296I probably damaging Het
Sult3a2 T C 10: 33,644,254 (GRCm39) M225V probably damaging Het
Syne2 T C 12: 76,051,441 (GRCm39) L4057P probably damaging Het
Tbx2 A G 11: 85,725,616 (GRCm39) H189R probably damaging Het
Tead1 T C 7: 112,441,311 (GRCm39) probably null Het
Tgs1 T C 4: 3,605,842 (GRCm39) S786P probably damaging Het
Tmco4 T C 4: 138,748,172 (GRCm39) Y251H probably damaging Het
Trim14 A T 4: 46,533,086 (GRCm39) C76S probably benign Het
Tubgcp6 T A 15: 88,993,231 (GRCm39) Q506L possibly damaging Het
Vmn2r50 A T 7: 9,781,795 (GRCm39) F317I probably damaging Het
Vwa5a T A 9: 38,639,124 (GRCm39) Y335* probably null Het
Zgrf1 C T 3: 127,389,573 (GRCm39) T1257I possibly damaging Het
Zpr1 A G 9: 46,184,863 (GRCm39) N87D possibly damaging Het
Other mutations in Derl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01730:Derl1 APN 15 57,755,543 (GRCm39) missense possibly damaging 0.94
R1643:Derl1 UTSW 15 57,741,955 (GRCm39) missense probably benign
R3081:Derl1 UTSW 15 57,739,007 (GRCm39) splice site probably benign
R7034:Derl1 UTSW 15 57,742,443 (GRCm39) critical splice donor site probably null
R7036:Derl1 UTSW 15 57,742,443 (GRCm39) critical splice donor site probably null
R7771:Derl1 UTSW 15 57,743,436 (GRCm39) missense probably damaging 1.00
R8737:Derl1 UTSW 15 57,755,568 (GRCm39) missense probably benign 0.12
Predicted Primers PCR Primer
(F):5'- GTACACTACTCTGCAGCGAC -3'
(R):5'- CAGCTTGAACTGATGTTTCTGAGTTC -3'

Sequencing Primer
(F):5'- CCCTTCTGGAAGTGTCAGAAGGTAC -3'
(R):5'- ACTGATGTTTCTGAGTTCATGTATTG -3'
Posted On 2020-01-23