Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02558:Pwp2'

298390

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

Essential gene?

Possibly essential (E-score: 0.668) question?

Stock #

IGL02558

Quality Score

Status

Chromosome

Chromosomal Location

78170909-78185149 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 78179065 bp (GRCm38)

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]

AlphaFold

Q8BU03

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700109H08Rik	A	C	5: 3,582,194	*25C	probably null	Het
Abca13	T	C	11: 9,399,387	Y3654H	probably damaging	Het
Ankle1	T	C	8: 71,408,992	F438S	probably damaging	Het
Atp10a	A	T	7: 58,819,642	R1080S	probably damaging	Het
Ccdc51	A	T	9: 109,092,184	N380Y	probably damaging	Het
Ccr8	A	T	9: 120,094,658	I280F	probably benign	Het
Cdc45	C	T	16: 18,798,729	M200I	probably benign	Het
Cep162	G	T	9: 87,225,726	T537N	probably benign	Het
Cep162	T	C	9: 87,225,733	T535A	probably benign	Het
Cfap52	T	C	11: 67,954,138	D35G	probably benign	Het
Cmip	G	A	8: 117,449,088	S530N	probably damaging	Het
Col9a3	A	T	2: 180,606,806		probably null	Het
Csf3r	T	C	4: 126,038,135		probably benign	Het
Csk	C	T	9: 57,630,263	E123K	probably benign	Het
Csrnp3	G	A	2: 66,022,229	E322K	probably damaging	Het
Ddx11	A	T	17: 66,148,672	I663F	probably damaging	Het
Dnah1	T	A	14: 31,274,379	M2667L	possibly damaging	Het
Foxred1	T	C	9: 35,210,133	K40E	probably damaging	Het
Gata2	C	T	6: 88,199,780	P74S	probably benign	Het
Gdf10	T	G	14: 33,923,980	C29G	probably benign	Het
Hectd4	A	G	5: 121,344,785	E3133G	probably benign	Het
Ints8	G	A	4: 11,218,771	R784W	probably damaging	Het
Lrriq1	T	C	10: 103,146,283	E1392G	probably damaging	Het
Muc19	T	C	15: 91,897,622		noncoding transcript	Het
Myom2	A	T	8: 15,114,237	D1044V	probably benign	Het
Nphp4	G	T	4: 152,555,531	R958L	probably damaging	Het
Nup205	C	T	6: 35,189,924	P293S	probably damaging	Het
Olfr1130	T	C	2: 87,607,559	I57T	probably benign	Het
Olfr23	A	T	11: 73,940,825	H193L	probably benign	Het
Plxdc2	A	G	2: 16,669,598		probably benign	Het
Siglec1	G	T	2: 131,074,995	S1113R	possibly damaging	Het
Sirpa	A	G	2: 129,630,069	E472G	probably damaging	Het
Slc39a4	G	T	15: 76,614,203	L345M	probably damaging	Het
Snx27	C	T	3: 94,502,881	R496Q	probably damaging	Het
Stard9	A	G	2: 120,696,907	H1215R	possibly damaging	Het
Stau1	A	G	2: 166,950,848	Y371H	probably benign	Het
Sult2a1	A	C	7: 13,832,595	W152G	probably benign	Het
Syt16	A	T	12: 74,235,058	K319*	probably null	Het
Tcf7	T	A	11: 52,253,970		probably benign	Het
Tfdp1	A	G	8: 13,369,546	N92D	possibly damaging	Het
Zfp13	C	T	17: 23,576,098	A493T	probably benign	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
IGL02560: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	splice site	probably null
R6897:Pwp2	UTSW	10	78172083	missense	probably damaging	1.00
R7060:Pwp2	UTSW	10	78173250	splice site	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
R8072:Pwp2	UTSW	10	78172096	missense	possibly damaging	0.82
R8447:Pwp2	UTSW	10	78172039	missense	probably benign	0.10
R8750:Pwp2	UTSW	10	78177825	missense	probably damaging	1.00
R9302:Pwp2	UTSW	10	78173706	missense	probably benign	0.04
R9367:Pwp2	UTSW	10	78178993	nonsense	probably null
Z1177:Pwp2	UTSW	10	78171974	nonsense	probably null

Posted On

2015-04-16