Incidental Mutation 'IGL00814:Pdcd6ip'
ID 12950
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pdcd6ip
Ensembl Gene ENSMUSG00000032504
Gene Name programmed cell death 6 interacting protein
Synonyms AIP1, Alix
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00814
Quality Score
Status
Chromosome 9
Chromosomal Location 113480812-113537327 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 113516721 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 230 (Q230R)
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: Q230R

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000035086
Gene: ENSMUSG00000032504
AA Change: Q230R

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: Q230R

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000107492
Gene: ENSMUSG00000032504
AA Change: Q230R

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156425
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: 17 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cops6 G T 5: 138,161,640 (GRCm39) R58L probably damaging Het
Elmo1 T A 13: 20,470,894 (GRCm39) M262K probably damaging Het
Faim G A 9: 98,874,218 (GRCm39) G15R probably damaging Het
Gria4 A T 9: 4,472,202 (GRCm39) M429K probably damaging Het
Hipk2 G A 6: 38,795,484 (GRCm39) R262W probably damaging Het
Kif23 A T 9: 61,844,389 (GRCm39) I143K possibly damaging Het
Mbtd1 T A 11: 93,834,666 (GRCm39) S615T possibly damaging Het
Nlrp9c C T 7: 26,084,175 (GRCm39) S468N probably benign Het
Nt5c2 A T 19: 46,886,087 (GRCm39) D212E probably benign Het
Or52e19 A T 7: 102,959,014 (GRCm39) I29L probably benign Het
Pck2 T C 14: 55,785,756 (GRCm39) probably benign Het
Pomk T C 8: 26,473,624 (GRCm39) T110A probably benign Het
Psg23 C T 7: 18,348,608 (GRCm39) W66* probably null Het
Rnf144b T C 13: 47,373,964 (GRCm39) probably benign Het
Sppl2c G A 11: 104,077,805 (GRCm39) G202S possibly damaging Het
Thnsl2 A C 6: 71,116,867 (GRCm39) L95R probably damaging Het
Ttn A G 2: 76,637,511 (GRCm39) V12248A probably benign Het
Other mutations in Pdcd6ip
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00087:Pdcd6ip APN 9 113,526,586 (GRCm39) missense possibly damaging 0.89
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
R5391:Pdcd6ip UTSW 9 113,520,586 (GRCm39) missense probably damaging 1.00
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
Posted On 2012-12-06