Mutagenetix > Incidental Mutation

Incidental Mutation 'R1687:Pdcd6ip'

189432

Institutional Source

Beutler Lab

Gene Symbol

Pdcd6ip

Ensembl Gene

ENSMUSG00000032504

Gene Name

programmed cell death 6 interacting protein

Synonyms

AIP1, Alix

MMRRC Submission

039720-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1687 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

113480812-113537327 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 113529087 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 72 (Y72N)

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: Y72N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000035086
Gene: ENSMUSG00000032504
AA Change: Y72N

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

probably damaging
Transcript: ENSMUST00000111861
AA Change: Y72N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107492
Gene: ENSMUSG00000032504
AA Change: Y72N

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156425

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.8%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	A	T	11: 110,184,714 (GRCm39)	F931I	probably benign	Het
Alox15	T	A	11: 70,240,744 (GRCm39)	H212L	probably benign	Het
Arhgap42	A	T	9: 9,035,538 (GRCm39)	V268D	probably benign	Het
Armc9	A	G	1: 86,084,677 (GRCm39)	M1V	probably null	Het
Brca1	C	T	11: 101,380,666 (GRCm39)	C1789Y	probably benign	Het
Cacng4	A	G	11: 107,627,585 (GRCm39)	V138A	probably benign	Het
Camsap1	A	G	2: 25,829,627 (GRCm39)	F699S	probably damaging	Het
Ccm2	A	G	11: 6,535,118 (GRCm39)	R67G	probably damaging	Het
Cdk16	G	A	X: 20,562,898 (GRCm39)		probably null	Het
Cep85	T	C	4: 133,875,324 (GRCm39)	H546R	probably benign	Het
Cfap54	T	C	10: 92,768,502 (GRCm39)	D207G	probably damaging	Het
Cldn9	G	T	17: 23,902,050 (GRCm39)	R192S	probably benign	Het
Crybb3	A	G	5: 113,227,633 (GRCm39)	S63P	probably damaging	Het
Cux1	A	G	5: 136,341,523 (GRCm39)	L615P	probably damaging	Het
Dctn3	A	G	4: 41,715,407 (GRCm39)	Y154H	probably damaging	Het
Depdc5	CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	5: 33,067,751 (GRCm39)		probably benign	Het
Dnah3	A	T	7: 119,645,009 (GRCm39)		probably null	Het
Eif1ad2	A	G	12: 87,786,488 (GRCm39)	D133G	unknown	Het
Eml6	G	A	11: 29,783,187 (GRCm39)	H565Y	probably damaging	Het
Ephb6	T	C	6: 41,594,300 (GRCm39)	V610A	probably benign	Het
Fam234a	T	C	17: 26,434,282 (GRCm39)	Y333C	probably damaging	Het
Fbln1	G	A	15: 85,111,307 (GRCm39)	V154I	probably benign	Het
Frem2	A	T	3: 53,561,373 (GRCm39)	W1045R	probably benign	Het
Fubp1	A	G	3: 151,933,838 (GRCm39)		probably benign	Het
Gja3	T	A	14: 57,274,333 (GRCm39)	N13I	probably damaging	Het
Gpr20	C	A	15: 73,567,751 (GRCm39)	V213L	probably benign	Het
Grk5	T	C	19: 61,065,221 (GRCm39)	I295T	probably damaging	Het
Gucy1b1	A	G	3: 81,945,349 (GRCm39)	F430L	probably damaging	Het
Gzmk	T	A	13: 113,310,462 (GRCm39)	I119L	probably benign	Het
Hadh	T	C	3: 131,038,898 (GRCm39)	I153V	probably benign	Het
Hsfy2	T	C	1: 56,676,012 (GRCm39)	Y175C	probably damaging	Het
Hspa5	T	C	2: 34,665,836 (GRCm39)	I560T	probably benign	Het
Igdcc4	T	C	9: 65,038,945 (GRCm39)	V863A	probably damaging	Het
Il22ra2	A	G	10: 19,508,620 (GRCm39)	D216G	probably benign	Het
Klc2	G	A	19: 5,161,682 (GRCm39)	P303S	probably damaging	Het
Lama5	C	T	2: 179,835,859 (GRCm39)	V1192I	probably benign	Het
Mon2	A	G	10: 122,862,029 (GRCm39)	S772P	probably damaging	Het
Mphosph8	T	A	14: 56,909,935 (GRCm39)	L96Q	probably damaging	Het
Mzf1	C	A	7: 12,786,698 (GRCm39)	R124L	possibly damaging	Het
Nckap1	A	G	2: 80,350,929 (GRCm39)	I726T	probably damaging	Het
Ndnf	A	T	6: 65,680,407 (GRCm39)	T229S	probably benign	Het
Npas3	A	T	12: 54,095,658 (GRCm39)		probably null	Het
Nrap	C	T	19: 56,343,961 (GRCm39)	E729K	probably damaging	Het
Nsun2	T	A	13: 69,775,716 (GRCm39)	F387I	probably damaging	Het
Or11g27	T	C	14: 50,771,159 (GRCm39)	S97P	possibly damaging	Het
Pabpc1l	C	T	2: 163,886,226 (GRCm39)	T452M	probably benign	Het
Pcdh10	T	C	3: 45,334,450 (GRCm39)	Y255H	probably damaging	Het
Pglyrp1	A	T	7: 18,618,629 (GRCm39)		probably benign	Het
Pkp2	T	C	16: 16,086,573 (GRCm39)		probably null	Het
Ppard	A	G	17: 28,516,154 (GRCm39)	Y126C	probably damaging	Het
Prkcq	T	C	2: 11,295,344 (GRCm39)	Y598H	probably damaging	Het
Rhobtb1	A	G	10: 69,106,109 (GRCm39)	T287A	probably damaging	Het
Sema4b	T	C	7: 79,869,010 (GRCm39)	Y361H	probably damaging	Het
Slfn9	A	T	11: 82,872,983 (GRCm39)	I640N	probably damaging	Het
Smurf2	C	A	11: 106,726,896 (GRCm39)		probably null	Het
Spag5	T	C	11: 78,195,755 (GRCm39)	V354A	probably benign	Het
Sptb	T	C	12: 76,650,473 (GRCm39)	D1748G	possibly damaging	Het
St6galnac5	C	A	3: 152,686,887 (GRCm39)	L22F	probably benign	Het
Sugp2	T	C	8: 70,695,284 (GRCm39)	S86P	probably damaging	Het
Tnk1	T	C	11: 69,747,299 (GRCm39)	I111V	possibly damaging	Het
Tnni3k	T	A	3: 154,645,263 (GRCm39)	I541F	possibly damaging	Het
Trim36	G	T	18: 46,321,724 (GRCm39)	H108N	possibly damaging	Het
Ttn	T	C	2: 76,701,251 (GRCm39)		probably benign	Het
Usp28	T	A	9: 48,935,317 (GRCm39)	S89R	probably benign	Het
Vmn2r121	T	C	X: 123,042,488 (GRCm39)	D223G	probably benign	Het
Vmn2r65	T	A	7: 84,590,026 (GRCm39)	Y630F	probably benign	Het
Washc2	T	A	6: 116,233,673 (GRCm39)	S900T	probably benign	Het
Wdr72	A	G	9: 74,117,481 (GRCm39)	N731S	probably benign	Het
Xrra1	T	A	7: 99,525,451 (GRCm39)	F123L	probably damaging	Het
Zfp648	A	G	1: 154,079,988 (GRCm39)	D49G	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
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

Predicted Primers

PCR Primer
(F):5'- CAGGAGACAATATTCACATCCGACAGAG -3'
(R):5'- TGTTGGTCACTGTAATTGGGGACAAG -3'

Sequencing Primer
(F):5'- TATTCACATCCGACAGAGTCAAAAC -3'
(R):5'- acccacagagaccagaagag -3'

Posted On

2014-05-14