Incidental Mutation 'R9125:Derl3'
ID 693193
Institutional Source Beutler Lab
Gene Symbol Derl3
Ensembl Gene ENSMUSG00000009092
Gene Name Der1-like domain family, member 3
Synonyms IZP6, 1810006I20Rik, 1810063P04Rik, derlin-3
MMRRC Submission 068925-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9125 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 75729247-75731775 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 75730443 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 169 (V169I)
Ref Sequence ENSEMBL: ENSMUSP00000009236 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000925] [ENSMUST00000009236] [ENSMUST00000121304] [ENSMUST00000140388] [ENSMUST00000217811]
AlphaFold Q9D8K3
Predicted Effect probably benign
Transcript: ENSMUST00000000925
SMART Domains Protein: ENSMUSP00000000925
Gene: ENSMUSG00000000902

DomainStartEndE-ValueType
Blast:HX 31 52 9e-8 BLAST
Pfam:SNF5 179 254 1.1e-27 PFAM
Pfam:SNF5 249 373 3.1e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000009236
AA Change: V169I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000009236
Gene: ENSMUSG00000009092
AA Change: V169I

DomainStartEndE-ValueType
Pfam:DER1 13 203 7.4e-72 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000121304
SMART Domains Protein: ENSMUSP00000112463
Gene: ENSMUSG00000000902

DomainStartEndE-ValueType
Blast:HX 31 52 9e-8 BLAST
Pfam:SNF5 169 364 1.7e-66 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000140388
Predicted Effect probably benign
Transcript: ENSMUST00000217811
AA Change: V168I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 97% (64/66)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the derlin family, and resides in the endoplasmic reticulum (ER). Proteins that are unfolded or misfolded in the ER must be refolded or degraded to maintain the homeostasis of the ER. This protein appears to be involved in the degradation of misfolded glycoproteins in the ER. Several alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygous for this gene trapped allele show no obvious phenotype alterations. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg5 G A 17: 84,976,425 (GRCm39) H471Y probably damaging Het
Adam3 A G 8: 25,213,517 (GRCm39) L61P probably damaging Het
Ank2 T A 3: 126,733,744 (GRCm39) D622V probably damaging Het
Antxr2 G A 5: 98,151,973 (GRCm39) S166F probably damaging Het
Asph C T 4: 9,474,928 (GRCm39) G682D possibly damaging Het
Asz1 T C 6: 18,054,561 (GRCm39) E414G probably benign Het
Cabp2 G A 19: 4,135,597 (GRCm39) D96N probably damaging Het
Cc2d2a T A 5: 43,860,563 (GRCm39) D546E probably benign Het
Cdca2 T A 14: 67,917,762 (GRCm39) R545S probably benign Het
Chrna7 G A 7: 62,757,357 (GRCm39) Q181* probably null Het
Cib1 T C 7: 79,877,751 (GRCm39) D182G probably damaging Het
Cib4 T C 5: 30,655,477 (GRCm39) H76R probably benign Het
Cop1 T G 1: 159,067,187 (GRCm39) F157V probably damaging Het
Cspg4b C T 13: 113,505,374 (GRCm39) P2168S Het
Dap3 T A 3: 88,837,861 (GRCm39) T130S probably benign Het
Ddb2 T A 2: 91,064,593 (GRCm39) K106* probably null Het
Dusp6 T A 10: 99,102,074 (GRCm39) C353* probably null Het
Efcab3 A T 11: 104,736,360 (GRCm39) D2110V probably damaging Het
Fry A G 5: 150,269,525 (GRCm39) N217S probably damaging Het
Gabrb2 A G 11: 42,482,693 (GRCm39) T184A probably damaging Het
Gfpt1 G A 6: 87,053,248 (GRCm39) V403I probably benign Het
Gm7276 A G 18: 77,273,147 (GRCm39) S196P unknown Het
Grik1 T A 16: 87,852,956 (GRCm39) T76S Het
Hrnr A G 3: 93,238,863 (GRCm39) N3034D unknown Het
Kmt2c T C 5: 25,489,194 (GRCm39) T4582A possibly damaging Het
Mroh9 T C 1: 162,875,412 (GRCm39) I496V probably benign Het
Muc3a A G 5: 137,245,210 (GRCm39) L115P probably damaging Het
Nfe2 A G 15: 103,157,871 (GRCm39) L40P probably damaging Het
Nipsnap3b A T 4: 53,021,177 (GRCm39) D216V probably damaging Het
Or5d14 C T 2: 87,880,294 (GRCm39) V225M probably damaging Het
Or8b49 T A 9: 38,506,108 (GRCm39) I197K probably damaging Het
Otx1 G A 11: 21,949,458 (GRCm39) Q7* probably null Het
Piezo2 A G 18: 63,178,589 (GRCm39) I1776T probably benign Het
Pira12 T A 7: 3,900,021 (GRCm39) I194L possibly damaging Het
Ppp1r37 T C 7: 19,269,014 (GRCm39) D162G probably benign Het
Ppp4c T A 7: 126,386,739 (GRCm39) E116V probably damaging Het
Pramel17 A G 4: 101,694,073 (GRCm39) V270A probably benign Het
Prorp A T 12: 55,355,611 (GRCm39) D372V possibly damaging Het
Psme2 T A 14: 55,828,302 (GRCm39) K15N possibly damaging Het
Retreg1 C T 15: 25,968,618 (GRCm39) R125C probably damaging Het
Rgs16 A G 1: 153,617,874 (GRCm39) E128G probably null Het
Rnf145 G T 11: 44,450,819 (GRCm39) R381L probably damaging Het
Rnf2 T C 1: 151,347,433 (GRCm39) K289E probably benign Het
Rsf1 CG CGACGGCGGGG 7: 97,229,115 (GRCm39) probably benign Het
Ryr2 A G 13: 11,669,292 (GRCm39) V3504A probably benign Het
Selp T A 1: 163,951,356 (GRCm39) I30N probably benign Het
Serpinb5 C T 1: 106,798,137 (GRCm39) A42V probably benign Het
Sfpq G A 4: 126,915,633 (GRCm39) G142S unknown Het
Sh2d1b2 T C 1: 170,075,751 (GRCm39) Y62H possibly damaging Het
Sipa1l3 C T 7: 29,086,656 (GRCm39) E645K probably damaging Het
Slc22a1 T A 17: 12,878,598 (GRCm39) T372S probably benign Het
Smarca2 T A 19: 26,693,583 (GRCm39) D1262E possibly damaging Het
Speer4a3 T C 5: 26,156,596 (GRCm39) M128V possibly damaging Het
Sptbn2 A T 19: 4,784,241 (GRCm39) Q661L probably benign Het
Tarbp1 G T 8: 127,174,202 (GRCm39) T868K possibly damaging Het
Tnfrsf8 A G 4: 145,023,531 (GRCm39) S101P probably damaging Het
Tnfsf10 A C 3: 27,380,028 (GRCm39) probably benign Het
Tsc2 C T 17: 24,823,802 (GRCm39) R1001K probably null Het
Unc80 T A 1: 66,718,740 (GRCm39) S2988T probably benign Het
Vmn1r195 A G 13: 22,463,335 (GRCm39) I268M possibly damaging Het
Vmn1r27 G A 6: 58,192,416 (GRCm39) T196I probably benign Het
Vmn2r80 T A 10: 78,984,760 (GRCm39) D37E probably benign Het
Vmn2r9 A T 5: 108,996,047 (GRCm39) H200Q Het
Washc5 T C 15: 59,209,134 (GRCm39) Y1030C probably damaging Het
Wdr47 T C 3: 108,526,106 (GRCm39) F210L probably damaging Het
Wscd2 C A 5: 113,715,417 (GRCm39) A419E probably benign Het
Other mutations in Derl3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02735:Derl3 APN 10 75,730,950 (GRCm39) missense probably damaging 0.97
IGL03143:Derl3 APN 10 75,730,324 (GRCm39) missense possibly damaging 0.90
R0730:Derl3 UTSW 10 75,731,076 (GRCm39) splice site probably benign
R4819:Derl3 UTSW 10 75,729,713 (GRCm39) splice site probably null
R5524:Derl3 UTSW 10 75,730,324 (GRCm39) missense possibly damaging 0.90
R6041:Derl3 UTSW 10 75,729,335 (GRCm39) missense probably damaging 0.99
R6914:Derl3 UTSW 10 75,730,050 (GRCm39) splice site probably null
R9018:Derl3 UTSW 10 75,729,604 (GRCm39) missense probably benign 0.00
R9318:Derl3 UTSW 10 75,729,848 (GRCm39) missense probably null
Predicted Primers PCR Primer
(F):5'- TTGACTCTTGGTCCAGCTGC -3'
(R):5'- CAACTCAGTTCAGAAGGTCAACTG -3'

Sequencing Primer
(F):5'- CAGCTGCTGGGATTCCTG -3'
(R):5'- AGATGCAAATCCTGTGGTCC -3'
Posted On 2022-01-20