Mutagenetix > Incidental Mutation

Incidental Mutation 'R9546:Pdcd6ip'

720119

Institutional Source

Beutler Lab

Gene Symbol

Pdcd6ip

Ensembl Gene

ENSMUSG00000032504

Gene Name

programmed cell death 6 interacting protein

Synonyms

AIP1, Alix

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9546 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

113480812-113537327 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 113484174 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 818 (Y818N)

Ref Sequence

ENSEMBL: ENSMUSP00000107492 (fasta)

Gene Model

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

AlphaFold

Q9WU78

Predicted Effect

unknown
Transcript: ENSMUST00000035086
AA Change: Y813N

SMART Domains

Protein: ENSMUSP00000035086
Gene: ENSMUSG00000032504
AA Change: Y813N

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: Y818N

SMART Domains

Protein: ENSMUSP00000107492
Gene: ENSMUSG00000032504
AA Change: Y818N

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.1%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	G	A	11: 110,135,042 (GRCm39)	Q248*	probably null	Het
Adgrf4	A	T	17: 42,978,283 (GRCm39)	C353*	probably null	Het
Aifm3	T	C	16: 17,317,604 (GRCm39)	V75A	probably benign	Het
Apc	A	G	18: 34,445,311 (GRCm39)	K736E	possibly damaging	Het
Atad2	A	G	15: 57,989,973 (GRCm39)	S168P	probably damaging	Het
Ccdc122	T	A	14: 77,306,313 (GRCm39)	V28E	probably damaging	Het
Cd5l	T	C	3: 87,268,201 (GRCm39)	V16A	probably benign	Het
Cdk11b	T	C	4: 155,733,589 (GRCm39)	S682P	unknown	Het
Chd8	T	C	14: 52,453,408 (GRCm39)	I1218V	probably damaging	Het
Clec1b	A	C	6: 129,382,167 (GRCm39)	I215L	probably benign	Het
Dnah14	A	C	1: 181,420,992 (GRCm39)		probably null	Het
Ednrb	T	C	14: 104,080,459 (GRCm39)	I152V	probably benign	Het
Epha8	G	T	4: 136,665,897 (GRCm39)	L420M	probably damaging	Het
Epn2	T	C	11: 61,437,407 (GRCm39)	E55G	probably damaging	Het
Ern1	A	G	11: 106,300,853 (GRCm39)	S514P	probably benign	Het
Fbxo4	G	A	15: 3,998,493 (GRCm39)	P322S	probably damaging	Het
Gli3	T	A	13: 15,788,443 (GRCm39)	D149E	probably benign	Het
Gm12258	A	G	11: 58,749,922 (GRCm39)	K366E	unknown	Het
Gm9195	G	T	14: 72,718,347 (GRCm39)	H110N	possibly damaging	Het
Grb10	A	G	11: 11,893,919 (GRCm39)	I389T	probably benign	Het
Grip1	G	A	10: 119,874,569 (GRCm39)	E778K	possibly damaging	Het
Hexb	T	C	13: 97,322,176 (GRCm39)	D203G	probably damaging	Het
Hhatl	A	G	9: 121,618,649 (GRCm39)	Y118H	probably damaging	Het
Ighv1-69	A	G	12: 115,586,885 (GRCm39)	F83L	possibly damaging	Het
Iglon5	A	T	7: 43,123,891 (GRCm39)	M336K	probably benign	Het
Iyd	A	T	10: 3,501,884 (GRCm39)	I177F	possibly damaging	Het
Kdm4c	A	C	4: 74,323,104 (GRCm39)	D1012A	possibly damaging	Het
Klhl12	T	A	1: 134,413,562 (GRCm39)	L349Q	probably damaging	Het
Lrp2	A	G	2: 69,287,165 (GRCm39)		probably null	Het
Mrm2	T	A	5: 140,314,334 (GRCm39)	H167L	probably damaging	Het
Mrpl50	T	A	4: 49,514,338 (GRCm39)	H111L	probably damaging	Het
Mtcl3	C	A	10: 29,022,805 (GRCm39)	R51S	probably damaging	Het
Nags	A	T	11: 102,039,081 (GRCm39)	T471S	probably damaging	Het
Nod2	A	T	8: 89,379,621 (GRCm39)	R41W	probably benign	Het
Notch1	T	A	2: 26,371,127 (GRCm39)	N320Y	probably damaging	Het
Nr2c1	A	G	10: 94,026,528 (GRCm39)	K468E	possibly damaging	Het
Nsf	G	A	11: 103,801,275 (GRCm39)	Q247*	probably null	Het
Obsl1	T	C	1: 75,482,030 (GRCm39)	H280R	probably damaging	Het
Or4p20	T	C	2: 88,254,049 (GRCm39)	M107V	probably benign	Het
Pcdha3	C	T	18: 37,079,389 (GRCm39)	R44C	probably damaging	Het
Pcsk4	A	G	10: 80,157,741 (GRCm39)	S623P	possibly damaging	Het
Plk2	T	A	13: 110,535,301 (GRCm39)	I445K	possibly damaging	Het
Pramel51	C	A	12: 88,148,651 (GRCm39)		probably benign	Het
Prdm2	A	T	4: 142,861,561 (GRCm39)	S576R	probably damaging	Het
Prl3d1	A	T	13: 27,278,982 (GRCm39)	Y59F	probably benign	Het
Ptprj	C	T	2: 90,274,805 (GRCm39)	V1186I	probably benign	Het
Raly	AGCAGCAGTGGTGGAGGAGGAGGCAGCAGTGGTGGAGG	AGCAGCAGTGGTGGAGG	2: 154,705,754 (GRCm39)		probably benign	Het
Ros1	C	T	10: 51,994,215 (GRCm39)		probably null	Het
Ryr2	C	T	13: 11,602,101 (GRCm39)		probably null	Het
Scn7a	A	T	2: 66,582,603 (GRCm39)	I98N	possibly damaging	Het
Spi1	T	A	2: 90,943,617 (GRCm39)	S54T	probably benign	Het
Ssna1	C	T	2: 25,162,316 (GRCm39)	V16I	probably benign	Het
Sult3a2	G	A	10: 33,655,670 (GRCm39)	P103L	possibly damaging	Het
Syne1	C	T	10: 5,193,123 (GRCm39)	G3975D	probably damaging	Het
Tbc1d1	T	C	5: 64,330,950 (GRCm39)	V43A	possibly damaging	Het
Tut4	A	G	4: 108,370,429 (GRCm39)	D776G	probably benign	Het
Uba5	A	G	9: 103,931,567 (GRCm39)	S222P	probably damaging	Het
Vmn2r24	A	C	6: 123,764,266 (GRCm39)	E381A	probably damaging	Het
Vmn2r95	G	A	17: 18,661,721 (GRCm39)	G489D	probably benign	Het
Wdr17	A	T	8: 55,112,735 (GRCm39)	F789I	probably damaging	Het
Xpnpep1	A	T	19: 52,990,959 (GRCm39)	L422Q	probably damaging	Het
Zfand3	T	A	17: 30,372,302 (GRCm39)	H107Q	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
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
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

2022-07-18