Incidental Mutation 'IGL00334:Kdelc2'
ID332309
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kdelc2
Ensembl Gene ENSMUSG00000034487
Gene NameKDEL (Lys-Asp-Glu-Leu) containing 2
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.151) question?
Stock #IGL00334
Quality Score
Status
Chromosome9
Chromosomal Location53384025-53401867 bp(+) (GRCm38)
Type of Mutationintron
DNA Base Change (assembly) C to A at 53398028 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000149383 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037853] [ENSMUST00000214164]
Predicted Effect probably benign
Transcript: ENSMUST00000037853
SMART Domains Protein: ENSMUSP00000039313
Gene: ENSMUSG00000034487

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IG_FLMN 23 132 2.17e-2 SMART
Blast:CAP10 135 224 5e-48 BLAST
CAP10 226 471 7.45e-68 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184489
Predicted Effect probably benign
Transcript: ENSMUST00000214164
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214790
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610507B11Rik T A 11: 78,269,574 L620I possibly damaging Het
Arsb T G 13: 93,939,279 H423Q probably benign Het
Ces1f T C 8: 93,267,992 T264A probably benign Het
Clcn6 C A 4: 148,017,902 probably null Het
Cyb5r3 C A 15: 83,160,404 A138S probably benign Het
Cyp3a57 A T 5: 145,371,024 N197Y probably damaging Het
Dctn2 A G 10: 127,277,690 probably benign Het
Dnmt1 C T 9: 20,910,270 A1197T possibly damaging Het
Dock2 T C 11: 34,704,661 D436G probably damaging Het
Drd4 A G 7: 141,292,183 N49S probably damaging Het
Dst T A 1: 34,166,292 V521D probably damaging Het
Eif5b T C 1: 38,041,719 S714P probably damaging Het
Elmsan1 G A 12: 84,172,855 R442* probably null Het
Glis3 A G 19: 28,540,264 I178T probably damaging Het
Gm11565 T A 11: 99,915,195 C138S possibly damaging Het
H1foo T A 6: 115,947,627 probably benign Het
Hdx T A X: 111,582,881 I623F probably benign Het
Huwe1 T G X: 151,885,627 L843V probably damaging Het
Hyal2 T C 9: 107,570,405 Y86H probably damaging Het
Irf7 A T 7: 141,264,640 S157T probably benign Het
Jmjd4 T A 11: 59,455,314 M331K probably damaging Het
Kdm2a A T 19: 4,356,898 D112E possibly damaging Het
Mamdc2 A C 19: 23,378,774 Y103* probably null Het
Map2k3 T C 11: 60,943,215 V77A possibly damaging Het
Mprip T A 11: 59,748,591 D403E probably benign Het
Mutyh T A 4: 116,819,319 V496D possibly damaging Het
Nbeal1 T C 1: 60,328,103 L2575P probably damaging Het
Nbeal1 T C 1: 60,281,883 V2051A probably damaging Het
Olfr16 T G 1: 172,957,591 S265R possibly damaging Het
Olfr575 T C 7: 102,955,104 K173E probably benign Het
Pcdhb6 T A 18: 37,334,224 I66N probably damaging Het
Pck2 T C 14: 55,542,641 Y89H probably benign Het
Polr3e C T 7: 120,940,811 Q594* probably null Het
Ptpro T G 6: 137,394,909 probably null Het
Rfx4 A G 10: 84,780,053 K28E possibly damaging Het
Shox2 T C 3: 66,981,441 E39G possibly damaging Het
Slc22a16 A T 10: 40,573,934 D122V probably benign Het
Smr3a A C 5: 88,008,060 probably benign Het
Taf4 G T 2: 179,976,625 L8M unknown Het
Tbkbp1 T A 11: 97,137,648 probably benign Het
Tepp G A 8: 95,313,048 R31H probably damaging Het
Tmem120b G T 5: 123,115,167 E210D probably damaging Het
Tmem120b A T 5: 123,115,166 probably null Het
Trim21 C T 7: 102,559,598 V305M probably damaging Het
Ube4a A T 9: 44,948,141 L353Q probably damaging Het
Zfyve1 A T 12: 83,574,798 N274K probably benign Het
Other mutations in Kdelc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00334:Kdelc2 APN 9 53398030 intron probably benign
IGL01061:Kdelc2 APN 9 53388587 unclassified probably benign
IGL01114:Kdelc2 APN 9 53388579 critical splice donor site probably null
IGL02227:Kdelc2 APN 9 53388479 missense probably damaging 0.97
IGL02646:Kdelc2 APN 9 53384251 missense probably benign 0.06
IGL02795:Kdelc2 APN 9 53392105 missense probably damaging 1.00
IGL03029:Kdelc2 APN 9 53384288 critical splice donor site probably null
R0830:Kdelc2 UTSW 9 53390711 missense probably damaging 1.00
R1256:Kdelc2 UTSW 9 53388462 missense possibly damaging 0.62
R1806:Kdelc2 UTSW 9 53395850 missense probably damaging 1.00
R5995:Kdelc2 UTSW 9 53395895 missense probably damaging 0.98
R6170:Kdelc2 UTSW 9 53399742 missense possibly damaging 0.91
R6348:Kdelc2 UTSW 9 53390440 missense probably damaging 0.97
R6833:Kdelc2 UTSW 9 53392008 missense possibly damaging 0.52
Posted On2015-08-05