Mutagenetix > Incidental Mutation

Incidental Mutation 'R6869:Pdcd6ip'

536094

Institutional Source

Beutler Lab

Gene Symbol

Pdcd6ip

Ensembl Gene

ENSMUSG00000032504

Gene Name

programmed cell death 6 interacting protein

Synonyms

AIP1, Alix

MMRRC Submission

044966-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6869 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

113480812-113537327 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 113484174 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 818 (Y818H)

Ref Sequence

ENSEMBL: ENSMUSP00000107492 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035086] [ENSMUST00000111861]

AlphaFold

Q9WU78

Predicted Effect

unknown
Transcript: ENSMUST00000035086
AA Change: Y813H

SMART Domains

Protein: ENSMUSP00000035086
Gene: ENSMUSG00000032504
AA Change: Y813H

Domain	Start	End	E-Value	Type
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

unknown
Transcript: ENSMUST00000111861
AA Change: Y818H

SMART Domains

Protein: ENSMUSP00000107492
Gene: ENSMUSG00000032504
AA Change: Y818H

Domain	Start	End	E-Value	Type
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

Meta Mutation Damage Score

0.1872

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

97% (61/63)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm5	A	T	4: 144,507,042 (GRCm39)		probably null	Het
Ankdd1b	A	T	13: 96,580,799 (GRCm39)	N166K	possibly damaging	Het
Arhgap30	G	T	1: 171,236,623 (GRCm39)	R999L	probably damaging	Het
Bnc2	T	A	4: 84,211,733 (GRCm39)	D212V	probably damaging	Het
Bpifb5	T	C	2: 154,075,143 (GRCm39)	I357T	probably benign	Het
Catsperb	T	C	12: 101,446,996 (GRCm39)	F208S	probably benign	Het
Cc2d2b	T	A	19: 40,797,898 (GRCm39)	H1105Q	probably benign	Het
Chchd6	T	C	6: 89,572,478 (GRCm39)	D17G	probably damaging	Het
Chd6	T	C	2: 160,807,650 (GRCm39)	S1855G	probably benign	Het
Cpe	A	G	8: 65,072,461 (GRCm39)	V143A	probably benign	Het
Cyfip1	T	A	7: 55,557,113 (GRCm39)	V770D	possibly damaging	Het
Cyp1a1	A	T	9: 57,610,067 (GRCm39)	M494L	probably benign	Het
Dcstamp	T	C	15: 39,617,854 (GRCm39)	S88P	probably damaging	Het
Dnah2	T	A	11: 69,320,297 (GRCm39)	N3924I	probably damaging	Het
F830045P16Rik	T	C	2: 129,316,481 (GRCm39)	E76G	probably damaging	Het
Fam91a1	T	A	15: 58,303,117 (GRCm39)	V342E	probably benign	Het
Fastkd1	G	A	2: 69,533,104 (GRCm39)	A421V	probably benign	Het
Fgf20	T	C	8: 40,734,189 (GRCm39)	Y64C	probably damaging	Het
Gen1	A	T	12: 11,291,442 (GRCm39)	N847K	probably benign	Het
Gm4922	A	T	10: 18,660,263 (GRCm39)	I153K	probably damaging	Het
Gm6619	T	C	6: 131,463,401 (GRCm39)	I6T	unknown	Het
H2-Ab1	T	C	17: 34,486,537 (GRCm39)	Y199H	probably damaging	Het
Hdac7	C	A	15: 97,694,057 (GRCm39)	L737F	probably damaging	Het
Hells	A	G	19: 38,929,079 (GRCm39)	N121D	probably benign	Het
Itga2	G	A	13: 115,012,073 (GRCm39)		probably null	Het
Itgb1	A	G	8: 129,446,516 (GRCm39)	D391G	probably benign	Het
Lama5	G	A	2: 179,833,455 (GRCm39)	P1519L	probably damaging	Het
Lbx1	T	A	19: 45,223,390 (GRCm39)	S93C	probably damaging	Het
Lmod2	T	C	6: 24,604,126 (GRCm39)	M367T	probably benign	Het
Lrrc43	G	A	5: 123,642,339 (GRCm39)		probably null	Het
Man2a2	C	T	7: 80,012,693 (GRCm39)	G574D	probably benign	Het
Mier2	T	G	10: 79,378,503 (GRCm39)	K343T	probably damaging	Het
Msh5	A	T	17: 35,260,810 (GRCm39)		probably null	Het
Mtus1	T	C	8: 41,535,691 (GRCm39)	Q675R	possibly damaging	Het
Ncan	A	T	8: 70,560,557 (GRCm39)	H803Q	probably benign	Het
Nckap5l	A	G	15: 99,324,334 (GRCm39)	V723A	probably damaging	Het
Nectin3	G	A	16: 46,215,506 (GRCm39)	R79C	probably damaging	Het
Nlrc5	A	G	8: 95,248,583 (GRCm39)	E1735G	probably benign	Het
Nrros	A	G	16: 31,963,249 (GRCm39)	L220S	probably damaging	Het
Or52r1c	G	A	7: 102,735,075 (GRCm39)	V112M	possibly damaging	Het
Or5aq1b	T	A	2: 86,902,017 (GRCm39)	I154F	probably benign	Het
Oxa1l	C	T	14: 54,604,195 (GRCm39)	P152S	probably damaging	Het
Pik3cb	A	T	9: 98,942,312 (GRCm39)	S682T	probably benign	Het
Ppp1r3a	A	C	6: 14,754,825 (GRCm39)	S141A	probably benign	Het
Prrc2c	TTGCTGCTGCTGCTGCTGCTGCTGCTGC	TTGCTGCTGCTGCTGCTGCTGCTGC	1: 162,536,630 (GRCm39)		probably benign	Het
Ptprk	T	C	10: 28,349,055 (GRCm39)		probably null	Het
Ranbp17	T	C	11: 33,463,074 (GRCm39)		probably benign	Het
Rcbtb1	T	C	14: 59,455,051 (GRCm39)	V95A	probably benign	Het
Retreg3	G	A	11: 101,010,644 (GRCm39)		probably benign	Het
Rhobtb1	T	C	10: 69,106,056 (GRCm39)	L207P	probably damaging	Het
Rsf1	GGCG	GGCGACGGCTGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Sh3bgr	A	G	16: 96,007,860 (GRCm39)	Y75C	probably damaging	Het
Strip1	T	C	3: 107,520,761 (GRCm39)	D763G	probably damaging	Het
Stxbp5l	A	T	16: 37,024,810 (GRCm39)	V596E	possibly damaging	Het
Tas2r138	A	G	6: 40,589,355 (GRCm39)	I297T	probably damaging	Het
Topors	A	C	4: 40,261,201 (GRCm39)	N694K	unknown	Het
Tymp	T	C	15: 89,260,894 (GRCm39)	R20G	probably benign	Het
Ubr4	A	G	4: 139,194,538 (GRCm39)	T1144A	possibly damaging	Het
Unc79	A	T	12: 103,079,331 (GRCm39)	Q1636L	probably benign	Het
Vmn1r78	A	G	7: 11,886,676 (GRCm39)	M96V	probably benign	Het
Wfdc8	C	T	2: 164,441,012 (GRCm39)	D244N	possibly damaging	Het
Zbtb49	G	T	5: 38,371,694 (GRCm39)	N62K	probably damaging	Het
Zfp579	G	T	7: 4,997,460 (GRCm39)	D150E	probably benign	Het

Other mutations in Pdcd6ip

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- CTGCTGTGGATAGTAGGACTGC -3'
(R):5'- GCCTCATTAAAACGAACTGTCTC -3'

Sequencing Primer
(F):5'- ATAGTAGGACTGCTGCGGG -3'
(R):5'- AGTTAATGGTAGGGATGCTTTTTCTC -3'

Posted On

2018-10-18