Incidental Mutation 'IGL03029:Pdcd6'
ID 408332
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pdcd6
Ensembl Gene ENSMUSG00000021576
Gene Name programmed cell death 6
Synonyms MA-3, PS2, alg-2, Alg2
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03029
Quality Score
Status
Chromosome 13
Chromosomal Location 74451628-74465699 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 74457899 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 91 (Y91H)
Ref Sequence ENSEMBL: ENSMUSP00000152458 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022060] [ENSMUST00000222759]
AlphaFold P12815
Predicted Effect probably damaging
Transcript: ENSMUST00000022060
AA Change: Y91H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022060
Gene: ENSMUSG00000021576
AA Change: Y91H

DomainStartEndE-ValueType
low complexity region 8 21 N/A INTRINSIC
EFh 27 55 1.76e0 SMART
EFh 64 92 2.98e1 SMART
EFh 94 122 1.4e-5 SMART
EFh 130 158 8.33e1 SMART
EFh 160 190 6.2e0 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220861
Predicted Effect probably damaging
Transcript: ENSMUST00000222759
AA Change: Y91H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222993
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 calcium-binding protein belonging to the penta-EF-hand protein family. Calcium binding is important for homodimerization and for conformational changes required for binding to other protein partners. This gene product participates in T cell receptor-, Fas-, and glucocorticoid-induced programmed cell death. In mice deficient for this gene product, however, apoptosis was not blocked suggesting this gene product is functionally redundant. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is also located on the short arm of chromosome 5. [provided by RefSeq, May 2012]
PHENOTYPE: Mice homozygous for a targeted null mutation are viable, fertile and do not exhibit any developmental defects or immune dysfunction. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acy1 T A 9: 106,312,314 (GRCm39) D213V probably damaging Het
Akap6 T C 12: 52,933,195 (GRCm39) L229P probably damaging Het
Ankrd10 A T 8: 11,669,304 (GRCm39) probably null Het
Arfgap3 C T 15: 83,206,851 (GRCm39) E246K probably damaging Het
Cadps G T 14: 12,376,675 (GRCm38) T1274K probably damaging Het
Cd46 T C 1: 194,768,451 (GRCm39) T89A probably benign Het
Cylc1 A C X: 110,156,944 (GRCm39) probably benign Het
Dach2 T A X: 112,724,833 (GRCm39) L492* probably null Het
Dlc1 T C 8: 37,038,416 (GRCm39) probably null Het
Fanci T C 7: 79,093,747 (GRCm39) V1033A probably benign Het
Fat4 T C 3: 39,036,740 (GRCm39) I3464T possibly damaging Het
Fus A G 7: 127,584,712 (GRCm39) probably benign Het
Garin5b G T 7: 4,760,839 (GRCm39) N624K possibly damaging Het
Hectd3 G T 4: 116,854,162 (GRCm39) E271* probably null Het
Herc2 T C 7: 55,818,715 (GRCm39) L2802P probably damaging Het
Hk2 G A 6: 82,715,314 (GRCm39) R407C probably damaging Het
Josd2 T C 7: 44,120,601 (GRCm39) S71P probably damaging Het
Kif20b A G 19: 34,928,313 (GRCm39) T1152A probably benign Het
Myo15b G A 11: 115,762,469 (GRCm39) V1229I probably benign Het
Nup188 T C 2: 30,212,592 (GRCm39) probably benign Het
Or1i2 T A 10: 78,447,792 (GRCm39) I228F probably benign Het
Pank1 T A 19: 34,798,535 (GRCm39) I476F probably damaging Het
Pik3r3 T G 4: 116,156,998 (GRCm39) V393G probably damaging Het
Poglut3 T C 9: 53,295,588 (GRCm39) probably null Het
Prx C T 7: 27,207,486 (GRCm39) R48* probably null Het
Rbm5 A G 9: 107,631,652 (GRCm39) S222P possibly damaging Het
Rev3l T A 10: 39,704,482 (GRCm39) I302N probably benign Het
Rnf139 T C 15: 58,770,967 (GRCm39) F331L probably damaging Het
Shisa4 G T 1: 135,300,914 (GRCm39) Q119K probably damaging Het
Shisa6 T A 11: 66,108,839 (GRCm39) E346V probably damaging Het
Slc6a3 A T 13: 73,686,816 (GRCm39) E61V probably damaging Het
Slc9a7 T A X: 20,157,608 (GRCm39) M106L probably benign Het
Srek1 A G 13: 103,900,468 (GRCm39) probably benign Het
Strc G A 2: 121,194,525 (GRCm39) L1788F possibly damaging Het
Styk1 T C 6: 131,277,523 (GRCm39) S284G probably benign Het
Top2a T A 11: 98,909,625 (GRCm39) T158S probably benign Het
Vangl1 C T 3: 102,091,400 (GRCm39) V229M probably damaging Het
Vsig1 A G X: 139,827,261 (GRCm39) T137A possibly damaging Het
Other mutations in Pdcd6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02573:Pdcd6 APN 13 74,452,098 (GRCm39) missense probably damaging 1.00
R0379:Pdcd6 UTSW 13 74,457,831 (GRCm39) missense possibly damaging 0.81
R0744:Pdcd6 UTSW 13 74,464,443 (GRCm39) splice site probably benign
R0833:Pdcd6 UTSW 13 74,464,443 (GRCm39) splice site probably benign
R1739:Pdcd6 UTSW 13 74,452,160 (GRCm39) missense probably damaging 1.00
R1779:Pdcd6 UTSW 13 74,453,700 (GRCm39) missense probably damaging 0.99
R1983:Pdcd6 UTSW 13 74,452,119 (GRCm39) missense probably benign 0.05
R4665:Pdcd6 UTSW 13 74,465,325 (GRCm39) start codon destroyed probably null 0.02
R5868:Pdcd6 UTSW 13 74,452,133 (GRCm39) missense probably damaging 1.00
R6329:Pdcd6 UTSW 13 74,452,098 (GRCm39) missense probably damaging 1.00
R6848:Pdcd6 UTSW 13 74,457,959 (GRCm39) missense possibly damaging 0.56
R9497:Pdcd6 UTSW 13 74,453,695 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02