Incidental Mutation 'IGL01730:Derl1'
ID 105455
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Derl1
Ensembl Gene ENSMUSG00000022365
Gene Name Der1-like domain family, member 1
Synonyms Derlin-1, 1110021N07Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01730
Quality Score
Status
Chromosome 15
Chromosomal Location 57732898-57755814 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 57755543 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 50 (F50Y)
Ref Sequence ENSEMBL: ENSMUSP00000022993 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022993]
AlphaFold Q99J56
Predicted Effect possibly damaging
Transcript: ENSMUST00000022993
AA Change: F50Y

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000022993
Gene: ENSMUSG00000022365
AA Change: F50Y

DomainStartEndE-ValueType
Pfam:DER1 11 204 1.7e-68 PFAM
low complexity region 233 245 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226911
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 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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afap1 A G 5: 36,119,583 (GRCm39) E287G probably damaging Het
Bhmt A T 13: 93,761,917 (GRCm39) V122E probably damaging Het
Camta1 A G 4: 151,147,302 (GRCm39) I585T probably damaging Het
Cfap221 A G 1: 119,861,841 (GRCm39) S645P probably benign Het
Dhrs3 T C 4: 144,646,042 (GRCm39) S117P probably damaging Het
E2f8 A T 7: 48,527,682 (GRCm39) probably benign Het
Fbn1 A T 2: 125,154,894 (GRCm39) probably benign Het
Fbxo15 A G 18: 84,982,299 (GRCm39) I250M probably benign Het
Ghr A T 15: 3,350,066 (GRCm39) S371T probably damaging Het
Gm5884 A T 6: 128,622,669 (GRCm39) noncoding transcript Het
Grhl2 T C 15: 37,338,018 (GRCm39) V496A probably benign Het
Gsap A G 5: 21,495,152 (GRCm39) probably benign Het
Irak3 T C 10: 120,014,005 (GRCm39) D148G probably benign Het
Itga2 A T 13: 114,990,947 (GRCm39) probably benign Het
Kif13b T C 14: 64,987,810 (GRCm39) probably null Het
Kif20b A T 19: 34,927,923 (GRCm39) K1022* probably null Het
Klhl17 G T 4: 156,316,157 (GRCm39) S399* probably null Het
Lcp2 A T 11: 34,000,943 (GRCm39) D42V possibly damaging Het
Lin7c G T 2: 109,726,785 (GRCm39) G145* probably null Het
Lrba A G 3: 86,648,731 (GRCm39) D2493G possibly damaging Het
Mobp A G 9: 119,996,992 (GRCm39) D41G probably damaging Het
Mycbp2 G A 14: 103,372,640 (GRCm39) Q785* probably null Het
Myl6b T C 10: 128,332,211 (GRCm39) Y85C possibly damaging Het
Nup133 G T 8: 124,664,972 (GRCm39) H240N probably benign Het
Or5b12 A C 19: 12,896,926 (GRCm39) F249C probably damaging Het
Plk4 T C 3: 40,760,285 (GRCm39) S394P probably benign Het
Prepl A G 17: 85,388,603 (GRCm39) Y167H possibly damaging Het
Prkab1 A G 5: 116,159,551 (GRCm39) L105P probably damaging Het
Ryr2 T A 13: 11,616,728 (GRCm39) I3897L possibly damaging Het
Sema3c A G 5: 17,916,434 (GRCm39) S469G probably benign Het
Serpinb3c T A 1: 107,200,914 (GRCm39) S168C probably damaging Het
Snapc4 A T 2: 26,253,736 (GRCm39) probably null Het
Sorcs2 A T 5: 36,205,153 (GRCm39) M528K probably damaging Het
Spink10 T A 18: 62,784,816 (GRCm39) probably null Het
Tent5b A T 4: 133,213,833 (GRCm39) probably null Het
Thsd7a C A 6: 12,554,980 (GRCm39) Q301H probably benign Het
Tmem135 A T 7: 88,797,252 (GRCm39) F335I possibly damaging Het
Tshr A T 12: 91,486,077 (GRCm39) D217V possibly damaging Het
Ttyh1 G A 7: 4,128,720 (GRCm39) V206M possibly damaging Het
Tusc3 T G 8: 39,617,880 (GRCm39) *348G probably null Het
Vmn2r76 G A 7: 85,879,406 (GRCm39) T298I probably benign Het
Wdr47 T C 3: 108,518,712 (GRCm39) F67L probably damaging Het
Other mutations in Derl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2014-01-21