Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02560:Pwp2'

298200

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pwp2

Ensembl Gene

ENSMUSG00000032834

Gene Name

PWP2 periodic tryptophan protein homolog (yeast)

Synonyms

Pwp2, Pwp2h, 6530411D08Rik

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.536) question?

Stock #

IGL02560

Quality Score

Status

Chromosome

Chromosomal Location

78170909-78185149 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 78179065 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 362 (S362G)

Ref Sequence

ENSEMBL: ENSMUSP00000045812 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042556]

Predicted Effect

probably damaging
Transcript: ENSMUST00000042556
AA Change: S362G

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

SMART Domains

Protein: ENSMUSP00000045812
Gene: ENSMUSG00000032834
AA Change: S362G

Domain	Start	End	E-Value	Type
WD40	43	83	1.47e2	SMART
WD40	86	123	1.78e1	SMART
WD40	133	172	5.35e-1	SMART
WD40	177	216	8.29e-1	SMART
low complexity region	239	254	N/A	INTRINSIC
WD40	273	316	1.9e2	SMART
WD40	319	359	4.44e0	SMART
WD40	362	401	7.44e-8	SMART
WD40	404	443	3.87e-6	SMART
WD40	446	487	5.7e1	SMART
WD40	490	529	1.28e-11	SMART
WD40	533	571	9.94e-1	SMART
WD40	594	633	4.95e0	SMART
WD40	692	729	2.21e1	SMART
Pfam:Utp12	771	875	9.4e-25	PFAM
low complexity region	890	902	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230019H11Rik	A	G	10: 3,125,866		noncoding transcript	Het
Ano4	C	T	10: 88,978,741	W660*	probably null	Het
Atp9b	T	C	18: 80,762,198	D715G	probably benign	Het
Catsper1	T	C	19: 5,336,188	S150P	possibly damaging	Het
Cdc45	C	T	16: 18,798,729	M200I	probably benign	Het
Cldn19	G	A	4: 119,255,724	W51*	probably null	Het
Ddx31	T	C	2: 28,875,826	I512T	probably damaging	Het
Dsc2	G	T	18: 20,045,539	D269E	probably damaging	Het
Dsg1b	T	C	18: 20,409,178	V914A	possibly damaging	Het
Etl4	A	G	2: 20,743,718	E420G	probably damaging	Het
Foxa2	A	G	2: 148,044,031	L113P	probably benign	Het
Gm6034	T	G	17: 36,056,464		probably benign	Het
Gtf3c4	A	T	2: 28,834,267	Y343*	probably null	Het
Hhip	A	T	8: 79,987,009	Y563N	probably damaging	Het
Ighg2c	A	T	12: 113,287,884	C208S	unknown	Het
Lipo2	A	G	19: 33,730,948	L222P	possibly damaging	Het
Myb	A	T	10: 21,152,448	L172Q	probably damaging	Het
Nipal3	A	T	4: 135,479,704	Y60N	probably damaging	Het
Npas2	A	T	1: 39,333,961		probably benign	Het
Olfr1008	T	A	2: 85,689,519	V30D	possibly damaging	Het
Olfr1089	A	T	2: 86,733,234	I126N	probably damaging	Het
Olfr196	G	T	16: 59,167,528	S205*	probably null	Het
Pdxdc1	T	C	16: 13,839,732	D532G	probably benign	Het
Senp5	A	G	16: 31,989,392	V348A	probably benign	Het
Slc25a37	T	C	14: 69,245,292	T187A	probably benign	Het
Svil	A	G	18: 5,049,379	I219V	probably benign	Het
Tcf4	A	G	18: 69,643,022		probably benign	Het
Tex15	T	C	8: 33,581,751	V2442A	probably benign	Het
Tomm70a	T	C	16: 57,149,849	L530S	probably benign	Het
Wscd2	A	T	5: 113,560,984	D200V	probably benign	Het
Zfp952	C	T	17: 33,002,819	Q53*	probably null	Het

Other mutations in Pwp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01892:Pwp2	APN	10	78179007	missense	probably damaging	1.00
IGL02163:Pwp2	APN	10	78178285	missense	possibly damaging	0.82
IGL02280:Pwp2	APN	10	78184100	missense	probably damaging	0.99
IGL02558:Pwp2	APN	10	78179065	missense	probably damaging	1.00
IGL02583:Pwp2	APN	10	78181083	missense	probably benign
IGL02612:Pwp2	APN	10	78182994	missense	probably damaging	0.97
PIT4283001:Pwp2	UTSW	10	78185087	start codon destroyed	probably null	1.00
PIT4449001:Pwp2	UTSW	10	78178470	missense	probably benign	0.38
R0573:Pwp2	UTSW	10	78182686	missense	probably benign	0.37
R1835:Pwp2	UTSW	10	78179091	missense	probably damaging	1.00
R2097:Pwp2	UTSW	10	78177742	splice site	probably benign
R2251:Pwp2	UTSW	10	78181088	missense	probably benign	0.04
R2967:Pwp2	UTSW	10	78182698	missense	possibly damaging	0.94
R4909:Pwp2	UTSW	10	78182494	missense	possibly damaging	0.51
R4950:Pwp2	UTSW	10	78183006	missense	probably benign	0.00
R4970:Pwp2	UTSW	10	78173693	missense	possibly damaging	0.95
R5015:Pwp2	UTSW	10	78182693	missense	probably benign	0.23
R5355:Pwp2	UTSW	10	78175544	missense	possibly damaging	0.94
R5390:Pwp2	UTSW	10	78177771	missense	possibly damaging	0.63
R5416:Pwp2	UTSW	10	78183001	missense	probably damaging	1.00
R5841:Pwp2	UTSW	10	78172118	missense	probably benign	0.00
R5928:Pwp2	UTSW	10	78182456	missense	probably damaging	0.98
R6495:Pwp2	UTSW	10	78177127	missense	probably damaging	1.00
R6771:Pwp2	UTSW	10	78182388	splice site	probably null
R6848:Pwp2	UTSW	10	78184293	intron	probably null
R6897:Pwp2	UTSW	10	78172083	missense	probably damaging	1.00
R7060:Pwp2	UTSW	10	78173250	intron	probably null
R7269:Pwp2	UTSW	10	78176336	missense	probably benign	0.30
R7367:Pwp2	UTSW	10	78182480	missense	probably damaging	1.00
R7368:Pwp2	UTSW	10	78182480	missense	probably damaging	1.00
R7394:Pwp2	UTSW	10	78182480	missense	probably damaging	1.00
R7728:Pwp2	UTSW	10	78178561	missense	probably benign	0.00
R7838:Pwp2	UTSW	10	78182944	critical splice donor site	probably null
R7898:Pwp2	UTSW	10	78173406	missense	probably damaging	1.00
R7921:Pwp2	UTSW	10	78182944	critical splice donor site	probably null
R7981:Pwp2	UTSW	10	78173406	missense	probably damaging	1.00
R8072:Pwp2	UTSW	10	78172096	missense	possibly damaging	0.82
Z1177:Pwp2	UTSW	10	78171974	nonsense	probably null

Posted On

2015-04-16