Incidental Mutation 'IGL01114:Kdelc2'
ID51949
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: 0.123) question?
Stock #IGL01114
Quality Score
Status
Chromosome9
Chromosomal Location53384025-53401867 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 53388579 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000039313 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037853] [ENSMUST00000214164]
Predicted Effect probably null
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 probably benign
Transcript: ENSMUST00000214164
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700101I19Rik T C 1: 34,579,289 probably benign Het
Abca15 T G 7: 120,361,420 Y702D probably damaging Het
Abcc8 T C 7: 46,104,664 K1576R probably benign Het
Acot12 T A 13: 91,757,592 probably benign Het
Adamts13 A G 2: 27,005,190 I1098V probably benign Het
Adcy6 C T 15: 98,598,976 V471M probably damaging Het
Ccdc170 C A 10: 4,558,550 D591E probably benign Het
Corin A C 5: 72,305,011 D826E probably damaging Het
Cpsf2 T G 12: 101,989,839 N300K possibly damaging Het
Csmd2 C T 4: 128,369,130 T703I probably benign Het
D130043K22Rik T A 13: 24,857,156 L187Q probably damaging Het
D430041D05Rik G T 2: 104,258,166 S155* probably null Het
Dmrtc2 C T 7: 24,872,576 P32L probably damaging Het
Dsel G A 1: 111,860,061 R915* probably null Het
Fam124b T C 1: 80,213,135 Y177C possibly damaging Het
Fam171b G A 2: 83,876,728 W314* probably null Het
Gpn1 G T 5: 31,498,401 D103Y probably damaging Het
Gpr89 A T 3: 96,893,549 F88I probably damaging Het
Ifi27 T C 12: 103,437,533 probably benign Het
Kdm4d A G 9: 14,464,197 Y122H probably damaging Het
Oas1d G A 5: 120,916,844 V160I probably benign Het
Olfr1462 A G 19: 13,191,234 D189G possibly damaging Het
Olfr862 A T 9: 19,883,548 Y252* probably null Het
Rrp1b C T 17: 32,052,819 P288S probably benign Het
Sin3b A G 8: 72,744,505 K360R probably benign Het
Sympk A G 7: 19,047,573 D818G probably benign Het
Tecpr2 A G 12: 110,967,779 D1291G possibly damaging Het
Tep1 C T 14: 50,850,639 V814M probably damaging Het
Tpsg1 T C 17: 25,373,222 V17A probably benign Het
Other mutations in Kdelc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00334:Kdelc2 APN 9 53398028 intron probably benign
IGL00334:Kdelc2 APN 9 53398030 intron probably benign
IGL01061:Kdelc2 APN 9 53388587 unclassified probably benign
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
R7250:Kdelc2 UTSW 9 53390521 nonsense probably null
R7403:Kdelc2 UTSW 9 53390441 missense probably damaging 1.00
R8089:Kdelc2 UTSW 9 53395962 missense probably benign 0.04
Posted On2013-06-21