Incidental Mutation 'IGL03246:Pdcd6ip'
ID414401
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pdcd6ip
Ensembl Gene ENSMUSG00000032504
Gene Nameprogrammed cell death 6 interacting protein
SynonymsAlix, AIP1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03246
Quality Score
Status
Chromosome9
Chromosomal Location113651744-113708259 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 113678417 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Arginine at position 357 (K357R)
Ref Sequence ENSEMBL: ENSMUSP00000035086 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035086] [ENSMUST00000111861]
Predicted Effect possibly damaging
Transcript: ENSMUST00000035086
AA Change: K357R

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000035086
Gene: ENSMUSG00000032504
AA Change: K357R

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 benign
Transcript: ENSMUST00000111861
AA Change: K362R

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000107492
Gene: ENSMUSG00000032504
AA Change: K362R

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: ENSMUST00000135545
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 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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921511C20Rik T A X: 127,395,615 H392Q probably benign Het
Alox8 T A 11: 69,186,015 I547L probably damaging Het
Capn13 T C 17: 73,382,860 H52R probably benign Het
Cfap57 T A 4: 118,576,645 I979L probably benign Het
Ctdnep1 T C 11: 69,984,330 probably benign Het
Ercc5 C A 1: 44,167,081 P385T probably damaging Het
Fam98a C T 17: 75,538,853 M299I probably damaging Het
Flcn A T 11: 59,794,110 I505N possibly damaging Het
Fn1 G A 1: 71,624,296 T1011I possibly damaging Het
Gm12355 T A 11: 98,625,293 R85* probably null Het
Gm44 C A X: 90,892,402 H87Q probably benign Het
Klhl28 T C 12: 64,957,286 D151G probably benign Het
Klk13 T A 7: 43,720,998 N28K probably damaging Het
Macc1 T C 12: 119,446,685 V396A probably benign Het
Magi2 T A 5: 20,358,950 I360K probably damaging Het
Myh7b T C 2: 155,617,872 I251T probably damaging Het
Naalad2 A T 9: 18,385,099 I85K possibly damaging Het
Olfr290 T C 7: 84,916,711 C311R probably benign Het
Pbrm1 A T 14: 31,110,549 M1490L probably benign Het
Pclo C T 5: 14,677,617 probably benign Het
Pnpla6 C T 8: 3,531,530 T601I probably benign Het
Pof1b A T X: 112,648,120 N366K probably benign Het
Prr9 A G 3: 92,122,979 probably benign Het
Ptprz1 G T 6: 22,986,160 A320S probably damaging Het
Ripor1 A G 8: 105,615,858 Y187C possibly damaging Het
Rnf13 A G 3: 57,769,050 E42G probably damaging Het
Sdf4 T C 4: 156,000,697 V163A probably benign Het
Smc2 C T 4: 52,440,301 Q16* probably null Het
Tbck T A 3: 132,774,570 C737S probably benign Het
Tra2a A T 6: 49,249,085 Y140* probably null Het
Vcpip1 A C 1: 9,745,957 L734V probably benign Het
Vmn1r87 G A 7: 13,132,361 probably benign Het
Other mutations in Pdcd6ip
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00087:Pdcd6ip APN 9 113697518 missense possibly damaging 0.89
IGL00814:Pdcd6ip APN 9 113687653 missense probably damaging 0.97
IGL01092:Pdcd6ip APN 9 113680181 splice site probably benign
IGL01621:Pdcd6ip APN 9 113685422 missense probably benign 0.03
IGL01781:Pdcd6ip APN 9 113691498 missense probably damaging 1.00
IGL02158:Pdcd6ip APN 9 113680053 nonsense probably null
IGL03136:Pdcd6ip APN 9 113691499 missense probably damaging 1.00
IGL03137:Pdcd6ip APN 9 113657145 missense possibly damaging 0.69
R0230:Pdcd6ip UTSW 9 113685293 splice site probably benign
R0284:Pdcd6ip UTSW 9 113662504 missense probably damaging 1.00
R0862:Pdcd6ip UTSW 9 113674510 splice site probably benign
R0864:Pdcd6ip UTSW 9 113674510 splice site probably benign
R1025:Pdcd6ip UTSW 9 113662286 missense probably damaging 1.00
R1687:Pdcd6ip UTSW 9 113700019 missense probably damaging 1.00
R1699:Pdcd6ip UTSW 9 113678354 missense probably damaging 1.00
R1957:Pdcd6ip UTSW 9 113708022 missense probably damaging 1.00
R2317:Pdcd6ip UTSW 9 113672774 missense probably benign 0.03
R2698:Pdcd6ip UTSW 9 113674507 splice site probably null
R4182:Pdcd6ip UTSW 9 113700010 missense probably benign 0.00
R5154:Pdcd6ip UTSW 9 113691542 missense probably damaging 1.00
R5229:Pdcd6ip UTSW 9 113678333 missense probably damaging 0.99
R5391:Pdcd6ip UTSW 9 113691518 missense probably damaging 1.00
R5972:Pdcd6ip UTSW 9 113662298 missense probably benign 0.07
R6149:Pdcd6ip UTSW 9 113659871 missense probably benign 0.03
R6406:Pdcd6ip UTSW 9 113674344 missense possibly damaging 0.81
R6514:Pdcd6ip UTSW 9 113689694 missense probably benign 0.43
R6869:Pdcd6ip UTSW 9 113655106 missense unknown
R6888:Pdcd6ip UTSW 9 113671837 missense probably benign 0.04
R7078:Pdcd6ip UTSW 9 113659885 missense probably benign 0.01
R7683:Pdcd6ip UTSW 9 113687695 missense probably damaging 1.00
R8260:Pdcd6ip UTSW 9 113672797 missense probably benign 0.05
R8376:Pdcd6ip UTSW 9 113689616 missense probably damaging 1.00
Z1177:Pdcd6ip UTSW 9 113685369 missense possibly damaging 0.95
Posted On2016-08-02