Incidental Mutation 'R5391:Pdcd6ip'
ID 425860
Institutional Source Beutler Lab
Gene Symbol Pdcd6ip
Ensembl Gene ENSMUSG00000032504
Gene Name programmed cell death 6 interacting protein
Synonyms AIP1, Alix
MMRRC Submission 042963-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5391 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 113480812-113537327 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 113520586 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 133 (Q133K)
Ref Sequence ENSEMBL: ENSMUSP00000107492 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035086] [ENSMUST00000111861]
AlphaFold Q9WU78
Predicted Effect probably damaging
Transcript: ENSMUST00000035086
AA Change: Q133K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000035086
Gene: ENSMUSG00000032504
AA Change: Q133K

DomainStartEndE-ValueType
BRO1 3 382 1.99e-160 SMART
Pfam:ALIX_LYPXL_bnd 408 702 3.6e-91 PFAM
low complexity region 731 812 N/A INTRINSIC
Blast:BRO1 813 839 2e-11 BLAST
low complexity region 840 869 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000111861
AA Change: Q133K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000107492
Gene: ENSMUSG00000032504
AA Change: Q133K

DomainStartEndE-ValueType
BRO1 3 387 3.46e-160 SMART
Pfam:ALIX_LYPXL_bnd 417 706 8.8e-96 PFAM
low complexity region 736 817 N/A INTRINSIC
Blast:BRO1 818 844 2e-11 BLAST
low complexity region 845 874 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156425
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
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 that functions within the ESCRT pathway in the abscission stage of cytokinesis, in intralumenal endosomal vesicle formation, and in enveloped virus budding. Studies using mouse cells have shown that overexpression of this protein can block apoptosis. In addition, the product of this gene binds to the product of the PDCD6 gene, a protein required for apoptosis, in a calcium-dependent manner. This gene product also binds to endophilins, proteins that regulate membrane shape during endocytosis. Overexpression of this gene product and endophilins results in cytoplasmic vacuolization, which may be partly responsible for the protection against cell death. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. Related pseudogenes have been identified on chromosome 15. [provided by RefSeq, Jan 2012]
PHENOTYPE: Mice homozygous for a knock-out allele show decreased body and brain size and exhibit structural defects in the epithelium of the choroid plexus and in the brain ependyma that culminate in excessive cell extrusion, enlargement of the lateral ventricles, and hydrocephalus. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b G A 5: 8,855,481 (GRCm39) M38I probably null Het
Actl7a A G 4: 56,743,661 (GRCm39) T63A probably benign Het
Amfr G A 8: 94,702,676 (GRCm39) P497S probably damaging Het
Ankrd33b T C 15: 31,325,352 (GRCm39) I122V probably damaging Het
Asap1 G T 15: 63,965,901 (GRCm39) T1011K possibly damaging Het
Cbfa2t3 G A 8: 123,360,134 (GRCm39) R506* probably null Het
Ccs C G 19: 4,883,510 (GRCm39) C96S probably benign Het
Cpt1a A G 19: 3,399,260 (GRCm39) D20G probably damaging Het
Ctdspl2 G A 2: 121,834,629 (GRCm39) probably null Het
Dhx57 T C 17: 80,582,510 (GRCm39) Y365C probably damaging Het
Dnah3 C T 7: 119,689,299 (GRCm39) M38I probably benign Het
Dnajc6 T C 4: 101,485,355 (GRCm39) probably null Het
Elac2 A G 11: 64,885,120 (GRCm39) S450G probably benign Het
Gdf9 T C 11: 53,324,624 (GRCm39) V131A probably benign Het
Il12rb2 T C 6: 67,269,404 (GRCm39) N803S probably benign Het
Itgb4 T A 11: 115,875,894 (GRCm39) M477K probably benign Het
Itgb8 A C 12: 119,134,476 (GRCm39) C530W probably damaging Het
Krt78 C A 15: 101,860,263 (GRCm39) E218* probably null Het
Lpar1 A G 4: 58,486,902 (GRCm39) L105P probably damaging Het
Megf8 G A 7: 25,039,714 (GRCm39) G936D possibly damaging Het
Mov10 G A 3: 104,709,849 (GRCm39) H346Y probably benign Het
Nfia A G 4: 97,671,538 (GRCm39) I83V probably damaging Het
Or5b101 G T 19: 13,005,150 (GRCm39) A181E probably damaging Het
Or6d15 T C 6: 116,559,808 (GRCm39) Y33C probably damaging Het
Pcdhgb6 T G 18: 37,875,640 (GRCm39) I116S probably damaging Het
Phkb A G 8: 86,744,097 (GRCm39) D582G probably damaging Het
Pik3cd A T 4: 149,743,588 (GRCm39) V207E probably damaging Het
Ptov1 T C 7: 44,513,008 (GRCm39) Q397R probably damaging Het
Rangap1 A G 15: 81,590,647 (GRCm39) F482L probably benign Het
Rapgef1 T A 2: 29,627,977 (GRCm39) N1052K probably damaging Het
Rasl12 G T 9: 65,305,949 (GRCm39) A35S probably damaging Het
Rnf169 A T 7: 99,584,367 (GRCm39) probably null Het
Sec16a A G 2: 26,330,044 (GRCm39) V657A possibly damaging Het
Sin3a G A 9: 57,012,957 (GRCm39) R612H probably damaging Het
Six6 T A 12: 72,988,475 (GRCm39) L216* probably null Het
Tbce T C 13: 14,180,550 (GRCm39) I293M probably damaging Het
Tektl1 G A 10: 78,588,688 (GRCm39) Q41* probably null Het
Tmem176a T C 6: 48,821,630 (GRCm39) L204P probably damaging Het
Tmem87a A G 2: 120,193,358 (GRCm39) probably null Het
Tns1 A T 1: 74,029,568 (GRCm39) probably null Het
Usf3 T A 16: 44,037,826 (GRCm39) S769T probably benign Het
Vmn2r82 A G 10: 79,192,491 (GRCm39) T23A probably null Het
Vps26a A G 10: 62,292,526 (GRCm39) *328Q probably null Het
Vps51 T G 19: 6,121,063 (GRCm39) E283D probably benign Het
Wwc2 A T 8: 48,316,906 (GRCm39) I729K unknown Het
Zbtb44 A G 9: 30,964,601 (GRCm39) probably null Het
Zfp800 A T 6: 28,242,992 (GRCm39) S658T probably damaging Het
Zfp825 T C 13: 74,628,665 (GRCm39) T284A possibly damaging Het
Zfp935 G T 13: 62,602,632 (GRCm39) Y189* probably null Het
Zkscan1 T A 5: 138,095,363 (GRCm39) H203Q probably benign Het
Zkscan14 T C 5: 145,132,604 (GRCm39) D309G probably benign Het
Other mutations in Pdcd6ip
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00087:Pdcd6ip APN 9 113,526,586 (GRCm39) missense possibly damaging 0.89
IGL00814:Pdcd6ip APN 9 113,516,721 (GRCm39) missense probably damaging 0.97
IGL01092:Pdcd6ip APN 9 113,509,249 (GRCm39) splice site probably benign
IGL01621:Pdcd6ip APN 9 113,514,490 (GRCm39) missense probably benign 0.03
IGL01781:Pdcd6ip APN 9 113,520,566 (GRCm39) missense probably damaging 1.00
IGL02158:Pdcd6ip APN 9 113,509,121 (GRCm39) nonsense probably null
IGL03136:Pdcd6ip APN 9 113,520,567 (GRCm39) missense probably damaging 1.00
IGL03137:Pdcd6ip APN 9 113,486,213 (GRCm39) missense possibly damaging 0.69
IGL03246:Pdcd6ip APN 9 113,507,485 (GRCm39) missense possibly damaging 0.93
R0230:Pdcd6ip UTSW 9 113,514,361 (GRCm39) splice site probably benign
R0284:Pdcd6ip UTSW 9 113,491,572 (GRCm39) missense probably damaging 1.00
R0862:Pdcd6ip UTSW 9 113,503,578 (GRCm39) splice site probably benign
R0864:Pdcd6ip UTSW 9 113,503,578 (GRCm39) splice site probably benign
R1025:Pdcd6ip UTSW 9 113,491,354 (GRCm39) missense probably damaging 1.00
R1687:Pdcd6ip UTSW 9 113,529,087 (GRCm39) missense probably damaging 1.00
R1699:Pdcd6ip UTSW 9 113,507,422 (GRCm39) missense probably damaging 1.00
R1957:Pdcd6ip UTSW 9 113,537,090 (GRCm39) missense probably damaging 1.00
R2317:Pdcd6ip UTSW 9 113,501,842 (GRCm39) missense probably benign 0.03
R2698:Pdcd6ip UTSW 9 113,503,575 (GRCm39) splice site probably null
R4182:Pdcd6ip UTSW 9 113,529,078 (GRCm39) missense probably benign 0.00
R5154:Pdcd6ip UTSW 9 113,520,610 (GRCm39) missense probably damaging 1.00
R5229:Pdcd6ip UTSW 9 113,507,401 (GRCm39) missense probably damaging 0.99
R5972:Pdcd6ip UTSW 9 113,491,366 (GRCm39) missense probably benign 0.07
R6149:Pdcd6ip UTSW 9 113,488,939 (GRCm39) missense probably benign 0.03
R6406:Pdcd6ip UTSW 9 113,503,412 (GRCm39) missense possibly damaging 0.81
R6514:Pdcd6ip UTSW 9 113,518,762 (GRCm39) missense probably benign 0.43
R6869:Pdcd6ip UTSW 9 113,484,174 (GRCm39) missense unknown
R6888:Pdcd6ip UTSW 9 113,500,905 (GRCm39) missense probably benign 0.04
R7078:Pdcd6ip UTSW 9 113,488,953 (GRCm39) missense probably benign 0.01
R7683:Pdcd6ip UTSW 9 113,516,763 (GRCm39) missense probably damaging 1.00
R8260:Pdcd6ip UTSW 9 113,501,865 (GRCm39) missense probably benign 0.05
R8376:Pdcd6ip UTSW 9 113,518,684 (GRCm39) missense probably damaging 1.00
R8495:Pdcd6ip UTSW 9 113,518,775 (GRCm39) missense probably benign 0.23
R8926:Pdcd6ip UTSW 9 113,514,493 (GRCm39) missense probably benign 0.23
R9080:Pdcd6ip UTSW 9 113,520,624 (GRCm39) missense probably damaging 0.96
R9260:Pdcd6ip UTSW 9 113,526,572 (GRCm39) critical splice donor site probably null
R9315:Pdcd6ip UTSW 9 113,488,921 (GRCm39) missense possibly damaging 0.50
R9542:Pdcd6ip UTSW 9 113,520,589 (GRCm39) missense probably damaging 1.00
R9546:Pdcd6ip UTSW 9 113,484,174 (GRCm39) missense unknown
R9547:Pdcd6ip UTSW 9 113,484,174 (GRCm39) missense unknown
Z1177:Pdcd6ip UTSW 9 113,514,437 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- ATCAGTTTACTTAAGAGCACGACTC -3'
(R):5'- TGGGAAATTGGGTAGCCAGC -3'

Sequencing Primer
(F):5'- TCTCCCAGAGCATCAGTCATG -3'
(R):5'- TTGGGTAGCCAGCCTGCAATAG -3'
Posted On 2016-08-04