Incidental Mutation 'IGL01461:Kdelc1'
ID87994
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kdelc1
Ensembl Gene ENSMUSG00000026047
Gene NameKDEL (Lys-Asp-Glu-Leu) containing 1
SynonymsEP58, 1810049A15Rik, Kdel1, 5730416C13Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.407) question?
Stock #IGL01461
Quality Score
Status
Chromosome1
Chromosomal Location44106546-44118808 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 44110934 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Arginine at position 365 (Q365R)
Ref Sequence ENSEMBL: ENSMUSP00000064500 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027213] [ENSMUST00000065767] [ENSMUST00000152643]
Predicted Effect probably benign
Transcript: ENSMUST00000027213
SMART Domains Protein: ENSMUSP00000027213
Gene: ENSMUSG00000026047

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IG_FLMN 28 130 3.16e-16 SMART
CAP10 226 400 1.65e-51 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000065767
AA Change: Q365R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000064500
Gene: ENSMUSG00000026047
AA Change: Q365R

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IG_FLMN 28 130 3.16e-16 SMART
CAP10 226 470 4.81e-135 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134195
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141125
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148542
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149665
Predicted Effect probably benign
Transcript: ENSMUST00000152643
SMART Domains Protein: ENSMUSP00000114287
Gene: ENSMUSG00000026047

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IG_FLMN 28 133 9.21e-18 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein product localized to the lumen of the endoplasmic reticulum. As a member of the endoplasmic reticulum protein family the encoded protein contains a Lys-Asp-Glu-Leu or KDEL motif located at the extreme C-terminus which prevents all endoplasmic reticulum resident proteins from being secreted. Proteins carrying this motif are bound by a receptor in the Golgi apparatus so that the receptor-ligand complex returns to the endoplasmic reticulum. A processed non-transcribed pseudogene located in an intron of a sodium transporter gene on chromosome 5 has been defined for this gene. This gene has multiple transcript variants which are predicted to encode distinct isoforms. [provided by RefSeq, Jan 2016]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T C 13: 77,281,095 F767S probably benign Het
2810474O19Rik T C 6: 149,331,515 probably benign Het
Abca13 A G 11: 9,403,834 T3719A probably damaging Het
Apob A T 12: 8,001,884 M1137L probably benign Het
Brd9 C T 13: 73,951,598 Q445* probably null Het
Cdh23 T C 10: 60,409,147 T990A possibly damaging Het
Cenpf A G 1: 189,657,096 L1513S probably damaging Het
Col27a1 A G 4: 63,224,243 K56R probably damaging Het
Cryaa A G 17: 31,681,026 Y118C probably damaging Het
Dtl T C 1: 191,546,617 T378A possibly damaging Het
E330020D12Rik A G 1: 153,408,359 noncoding transcript Het
F7 A G 8: 13,032,245 D145G possibly damaging Het
Flvcr2 A G 12: 85,803,131 probably benign Het
Hltf A T 3: 20,099,939 K680* probably null Het
Ing1 T G 8: 11,561,453 F22V probably benign Het
Ipo5 A G 14: 120,928,533 D330G probably damaging Het
Itgax G T 7: 128,135,018 D321Y probably damaging Het
Kel A C 6: 41,701,911 probably null Het
March10 T C 11: 105,389,605 K618R probably damaging Het
Mast4 T A 13: 102,754,068 M925L probably damaging Het
Miga1 C T 3: 152,335,297 E78K probably damaging Het
Olfr1204 G T 2: 88,852,325 C125F probably damaging Het
Olfr58 T A 9: 19,783,949 probably null Het
Pkdrej T C 15: 85,820,374 I454V possibly damaging Het
Prpf6 C A 2: 181,631,511 T283N probably benign Het
R3hdm1 A G 1: 128,178,906 H197R probably damaging Het
Smpd4 A C 16: 17,621,506 Q7P probably damaging Het
Vmn2r84 A T 10: 130,391,225 I248K possibly damaging Het
Other mutations in Kdelc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03185:Kdelc1 APN 1 44117199 missense probably benign 0.05
R0480:Kdelc1 UTSW 1 44110757 nonsense probably null
R4617:Kdelc1 UTSW 1 44110020 missense probably damaging 0.99
R5534:Kdelc1 UTSW 1 44112677 missense probably damaging 1.00
R5884:Kdelc1 UTSW 1 44117100 missense probably benign 0.00
R6044:Kdelc1 UTSW 1 44114451 nonsense probably null
R6755:Kdelc1 UTSW 1 44110734 critical splice donor site probably null
R6855:Kdelc1 UTSW 1 44110827 nonsense probably null
R6955:Kdelc1 UTSW 1 44117097 missense probably damaging 1.00
R7755:Kdelc1 UTSW 1 44118573 unclassified probably benign
R8144:Kdelc1 UTSW 1 44110806 missense probably damaging 1.00
R8245:Kdelc1 UTSW 1 44117066 missense probably benign 0.02
Posted On2013-11-18