Incidental Mutation 'IGL03136:Pdcd6ip'
ID410532
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 #IGL03136
Quality Score
Status
Chromosome9
Chromosomal Location113651744-113708259 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 113691499 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Isoleucine at position 139 (N139I)
Ref Sequence ENSEMBL: ENSMUSP00000107492 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035086] [ENSMUST00000111861]
Predicted Effect probably damaging
Transcript: ENSMUST00000035086
AA Change: N139I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000035086
Gene: ENSMUSG00000032504
AA Change: N139I

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: N139I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000107492
Gene: ENSMUSG00000032504
AA Change: N139I

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
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730522E02Rik A G 11: 25,769,122 L7S unknown Het
Abr C T 11: 76,425,295 W571* probably null Het
Adam18 A T 8: 24,641,836 C420S probably damaging Het
Akap5 G T 12: 76,329,875 E694* probably null Het
Bbs1 T C 19: 4,890,991 K565R probably benign Het
Brix1 A G 15: 10,478,766 F189S probably damaging Het
Cnot4 C A 6: 35,051,241 R480L probably damaging Het
Ctu2 A G 8: 122,479,201 probably benign Het
Dhcr7 A G 7: 143,847,366 H422R probably damaging Het
Dock1 A G 7: 135,168,389 M1793V probably benign Het
Dock7 A G 4: 99,003,791 F853L probably damaging Het
Fkbp15 G A 4: 62,340,229 probably benign Het
Ftsj3 C T 11: 106,253,813 D117N probably damaging Het
Gphn A G 12: 78,481,333 I142V possibly damaging Het
Hsd3b1 G A 3: 98,852,985 A230V probably damaging Het
Hydin G A 8: 110,418,524 A836T probably benign Het
Ift52 G T 2: 163,025,334 E71* probably null Het
Ms4a14 T C 19: 11,304,411 D261G possibly damaging Het
Nid1 G A 13: 13,500,499 V935I probably benign Het
Nrap T C 19: 56,342,255 K1008E possibly damaging Het
Nup210 A C 6: 91,028,861 V1340G probably benign Het
Olfr1442 T A 19: 12,674,967 I254N probably damaging Het
Olfr169 A T 16: 19,566,353 F177I probably damaging Het
Olfr974 T C 9: 39,943,036 Y259H probably damaging Het
Pcdhb15 C A 18: 37,475,014 T433N probably damaging Het
Pgbd1 A G 13: 21,433,439 V80A possibly damaging Het
Pigw A G 11: 84,877,777 I242T probably benign Het
Prtg T G 9: 72,856,985 V580G possibly damaging Het
Ptpn13 T A 5: 103,543,463 N1065K possibly damaging Het
Qrich1 G A 9: 108,544,918 R577H probably damaging Het
Ryr3 G A 2: 112,675,974 probably benign Het
Selenoi T C 5: 30,257,727 Y197H probably damaging Het
Slc47a2 A G 11: 61,310,765 C343R probably benign Het
Smurf2 A T 11: 106,831,048 D527E probably benign Het
Spam1 C T 6: 24,797,011 probably benign Het
Stkld1 T C 2: 26,951,423 V460A probably benign Het
Tgoln1 G A 6: 72,614,113 R339W probably damaging Het
Tprg T C 16: 25,412,762 probably benign Het
Treml1 T G 17: 48,364,851 probably benign Het
Ttc39b A T 4: 83,237,280 V497E probably damaging Het
Vmn1r223 A G 13: 23,249,763 T176A possibly damaging Het
Vmn2r75 A T 7: 86,148,703 I634N possibly damaging Het
Vps13c A G 9: 67,950,310 E2608G probably damaging Het
Zfp575 A G 7: 24,585,956 C87R probably damaging Het
Zfp790 T A 7: 29,829,895 Y668* probably null 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
IGL03137:Pdcd6ip APN 9 113657145 missense possibly damaging 0.69
IGL03246:Pdcd6ip APN 9 113678417 missense possibly damaging 0.93
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