Incidental Mutation 'IGL03029:Kdelc2'
ID408352
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: 0.114) question?
Stock #IGL03029
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 53384288 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000039313 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037853]
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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acy1 T A 9: 106,435,115 D213V probably damaging Het
Akap6 T C 12: 52,886,412 L229P probably damaging Het
Ankrd10 A T 8: 11,619,304 probably null Het
Arfgap3 C T 15: 83,322,650 E246K probably damaging Het
Cadps G T 14: 12,376,675 T1274K probably damaging Het
Cd46 T C 1: 195,086,143 T89A probably benign Het
Cylc1 A C X: 111,113,338 probably benign Het
Dach2 T A X: 113,815,136 L492* probably null Het
Dlc1 T C 8: 36,571,262 probably null Het
Fam71e2 G T 7: 4,757,840 N624K possibly damaging Het
Fanci T C 7: 79,443,999 V1033A probably benign Het
Fat4 T C 3: 38,982,591 I3464T possibly damaging Het
Fus A G 7: 127,985,540 probably benign Het
Hectd3 G T 4: 116,996,965 E271* probably null Het
Herc2 T C 7: 56,168,967 L2802P probably damaging Het
Hk2 G A 6: 82,738,333 R407C probably damaging Het
Josd2 T C 7: 44,471,177 S71P probably damaging Het
Kif20b A G 19: 34,950,913 T1152A probably benign Het
Myo15b G A 11: 115,871,643 V1229I probably benign Het
Nup188 T C 2: 30,322,580 probably benign Het
Olfr1357 T A 10: 78,611,958 I228F probably benign Het
Pank1 T A 19: 34,821,135 I476F probably damaging Het
Pdcd6 A G 13: 74,309,780 Y91H probably damaging Het
Pik3r3 T G 4: 116,299,801 V393G probably damaging Het
Prx C T 7: 27,508,061 R48* probably null Het
Rbm5 A G 9: 107,754,453 S222P possibly damaging Het
Rev3l T A 10: 39,828,486 I302N probably benign Het
Rnf139 T C 15: 58,899,118 F331L probably damaging Het
Shisa4 G T 1: 135,373,176 Q119K probably damaging Het
Shisa6 T A 11: 66,218,013 E346V probably damaging Het
Slc6a3 A T 13: 73,538,697 E61V probably damaging Het
Slc9a7 T A X: 20,291,369 M106L probably benign Het
Srek1 A G 13: 103,763,960 probably benign Het
Strc G A 2: 121,364,044 L1788F possibly damaging Het
Styk1 T C 6: 131,300,560 S284G probably benign Het
Top2a T A 11: 99,018,799 T158S probably benign Het
Vangl1 C T 3: 102,184,084 V229M probably damaging Het
Vsig1 A G X: 140,926,512 T137A possibly damaging 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
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
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 On2016-08-02