Incidental Mutation 'R3081:Derl1'
ID 265457
Institutional Source Beutler Lab
Gene Symbol Derl1
Ensembl Gene ENSMUSG00000022365
Gene Name Der1-like domain family, member 1
Synonyms Derlin-1, 1110021N07Rik
MMRRC Submission 040571-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3081 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 57732898-57755814 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to A at 57739007 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000022993 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022993]
AlphaFold Q99J56
Predicted Effect probably benign
Transcript: ENSMUST00000022993
SMART Domains Protein: ENSMUSP00000022993
Gene: ENSMUSG00000022365

DomainStartEndE-ValueType
Pfam:DER1 11 204 1.7e-68 PFAM
low complexity region 233 245 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226911
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 100% (58/58)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aamdc T A 7: 97,214,432 (GRCm39) T48S probably benign Het
Abcc3 T A 11: 94,247,802 (GRCm39) L1230F probably damaging Het
Abcf3 T A 16: 20,378,114 (GRCm39) I542N probably benign Het
Als2 A G 1: 59,226,508 (GRCm39) L932P probably damaging Het
Arhgap45 G A 10: 79,862,281 (GRCm39) R583H probably damaging Het
Asl T C 5: 130,042,245 (GRCm39) Y277C probably damaging Het
Bcl9 A T 3: 97,112,989 (GRCm39) N1155K possibly damaging Het
Carm1 C A 9: 21,490,692 (GRCm39) probably null Het
Cdkn2aip T C 8: 48,164,532 (GRCm39) K394E probably damaging Het
Cfap70 A G 14: 20,470,830 (GRCm39) Y472H probably damaging Het
Cfap77 T A 2: 28,852,662 (GRCm39) K203N probably damaging Het
Cldn14 T C 16: 93,716,192 (GRCm39) K218R probably damaging Het
Coro6 T C 11: 77,359,738 (GRCm39) F336S probably damaging Het
Dixdc1 G A 9: 50,622,259 (GRCm39) A25V probably damaging Het
Dock2 T A 11: 34,181,610 (GRCm39) H1651L probably benign Het
Dock6 A G 9: 21,750,496 (GRCm39) F473L possibly damaging Het
Dzip3 T C 16: 48,747,921 (GRCm39) H1163R probably damaging Het
Efcab9 T C 11: 32,473,689 (GRCm39) D35G probably benign Het
Evpl T C 11: 116,111,678 (GRCm39) D2004G probably damaging Het
Faiml A G 9: 99,114,527 (GRCm39) C121R probably damaging Het
Fastkd3 T C 13: 68,732,987 (GRCm39) V436A probably benign Het
Fbxl5 A G 5: 43,908,222 (GRCm39) Y660H probably damaging Het
Glt8d1 T C 14: 30,728,617 (GRCm39) V15A probably benign Het
Gpr25 A C 1: 136,187,623 (GRCm39) I330S possibly damaging Het
Hdac5 A T 11: 102,096,436 (GRCm39) V257E probably damaging Het
Lama2 C T 10: 26,877,231 (GRCm39) E2652K probably benign Het
Lrriq1 T A 10: 102,980,750 (GRCm39) S1462C probably damaging Het
Mgat3 A G 15: 80,096,055 (GRCm39) D294G probably benign Het
Mylk2 A G 2: 152,761,274 (GRCm39) N459S probably benign Het
Myo3b A C 2: 70,086,927 (GRCm39) probably benign Het
Naip6 T C 13: 100,436,961 (GRCm39) T521A probably benign Het
Nfxl1 C T 5: 72,686,378 (GRCm39) A608T possibly damaging Het
Nmd3 A G 3: 69,631,732 (GRCm39) probably benign Het
Nol8 C T 13: 49,831,868 (GRCm39) probably benign Het
Or1e29 A T 11: 73,668,051 (GRCm39) M34K probably damaging Het
Or8b12i C A 9: 20,082,061 (GRCm39) G269W probably benign Het
Or8b42 T A 9: 38,342,352 (GRCm39) M258K possibly damaging Het
Or8g34 G A 9: 39,373,226 (GRCm39) M166I probably benign Het
Pcdhgb2 T C 18: 37,824,566 (GRCm39) F519S probably damaging Het
Phf11c A G 14: 59,618,933 (GRCm39) V284A probably benign Het
Rasl11a G T 5: 146,784,113 (GRCm39) C186F probably benign Het
Rps18-ps3 T C 8: 107,989,469 (GRCm39) noncoding transcript Het
Rusc1 A G 3: 88,999,030 (GRCm39) S251P possibly damaging Het
Rxfp3 T C 15: 11,037,303 (GRCm39) E23G probably benign Het
Senp6 G A 9: 80,051,124 (GRCm39) A1134T probably benign Het
Slc22a4 A G 11: 53,898,615 (GRCm39) V159A probably benign Het
Spata31d1a T C 13: 59,850,907 (GRCm39) N407S probably benign Het
Ssc4d T C 5: 135,994,578 (GRCm39) T51A possibly damaging Het
Stip1 C T 19: 7,013,016 (GRCm39) A23T probably benign Het
Tecta A T 9: 42,289,290 (GRCm39) M425K possibly damaging Het
Tmed4 T C 11: 6,224,151 (GRCm39) H115R probably benign Het
Tmem255b T A 8: 13,501,048 (GRCm39) L74H probably damaging Het
Trav6n-5 A T 14: 53,342,741 (GRCm39) H93L possibly damaging Het
Tsen54 T A 11: 115,710,990 (GRCm39) D187E probably benign Het
Ttc39d A G 17: 80,524,982 (GRCm39) Y547C probably damaging Het
Vmn2r88 A G 14: 51,656,089 (GRCm39) N775S probably damaging Het
Vps13a G T 19: 16,642,101 (GRCm39) N2175K probably benign Het
Wnk4 A G 11: 101,167,717 (GRCm39) probably benign Het
Zfp180 A T 7: 23,804,928 (GRCm39) Q449L probably 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
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
R7996:Derl1 UTSW 15 57,741,970 (GRCm39) missense probably benign 0.00
R8737:Derl1 UTSW 15 57,755,568 (GRCm39) missense probably benign 0.12
Predicted Primers PCR Primer
(F):5'- GTCTCCTCATGAAAATGTCTCCTG -3'
(R):5'- GGGCCTCATTCGTTCTTCAG -3'

Sequencing Primer
(F):5'- CCTCATGAAAATGTCTCCTGTTGGG -3'
(R):5'- GATTTCCCTCTCCCTCAGAATACG -3'
Posted On 2015-02-05