Mutagenetix > Incidental Mutation

Incidental Mutation 'R3277:Pwp1'

475857

Institutional Source

Beutler Lab

Gene Symbol

Pwp1

Ensembl Gene

ENSMUSG00000001785

Gene Name

PWP1 homolog, endonuclein

Synonyms

2610205J09Rik, 2310058A11Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3277 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

85829494-85889096 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 85882079 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 294 (L294F)

Ref Sequence

ENSEMBL: ENSMUSP00000001836 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001836] [ENSMUST00000217667] [ENSMUST00000219256]

AlphaFold

Q99LL5

Predicted Effect

probably benign
Transcript: ENSMUST00000001836
AA Change: L294F

PolyPhen 2 Score 0.452 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000001836
Gene: ENSMUSG00000001785
AA Change: L294F

Domain	Start	End	E-Value	Type
low complexity region	45	61	N/A	INTRINSIC
Blast:WD40	168	220	4e-27	BLAST
WD40	244	284	4.51e-7	SMART
WD40	287	327	3.37e-6	SMART
WD40	331	370	4.42e1	SMART
WD40	373	413	6.38e-7	SMART
Blast:WD40	418	458	3e-23	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164053

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164562

Predicted Effect

probably benign
Transcript: ENSMUST00000217667

Predicted Effect

probably benign
Transcript: ENSMUST00000219256

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219626

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219902

Meta Mutation Damage Score

0.1350

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains several WD-40 repeats and is found mostly in the nucleus. The expression and localization of this protein are cell cycle dependent. Expression of this gene is upregulated in pancreatic adenocarcinoma. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	T	C	2: 151,472,100	R553G	possibly damaging	Het
Adarb2	A	G	13: 8,752,627	N646S	probably damaging	Het
Adcy8	C	T	15: 64,699,159	G1242S	probably benign	Het
Ano9	T	A	7: 141,104,124	T543S	probably damaging	Het
Btnl10	A	G	11: 58,922,390	K282E	probably benign	Het
Btnl9	T	C	11: 49,169,676	D330G	probably damaging	Het
Ccdc178	G	T	18: 22,067,652	A416E	possibly damaging	Het
Cdx2	A	T	5: 147,303,192	S225T	probably benign	Het
Clca4b	T	C	3: 144,911,359	I843M	probably benign	Het
Cntn4	G	A	6: 106,437,964		probably null	Het
Cyp4f18	T	C	8: 71,993,200	D317G	possibly damaging	Het
Dennd4a	G	T	9: 64,888,993	R767L	probably damaging	Het
Dgkb	G	A	12: 38,084,217	V41M	probably damaging	Het
Duox1	T	C	2: 122,340,116	Y1206H	probably damaging	Het
Dync1i1	T	C	6: 5,972,211		probably null	Het
Fbxw2	T	C	2: 34,822,750	T100A	probably benign	Het
Fcgbp	C	A	7: 28,091,661	H782Q	probably damaging	Het
Flg2	A	T	3: 93,214,888	Q1455L	unknown	Het
Frrs1	T	C	3: 116,899,224	F49S	probably damaging	Het
Gli3	A	T	13: 15,725,982	Q1318L	probably benign	Het
Gm5592	A	G	7: 41,288,380	E362G	probably benign	Het
Gm7104	A	T	12: 88,285,728		noncoding transcript	Het
Gpatch2l	A	G	12: 86,244,315	T91A	possibly damaging	Het
Hacd4	T	C	4: 88,437,510	H46R	probably damaging	Het
Herc2	T	C	7: 56,153,428	V2175A	probably benign	Het
Hey1	T	C	3: 8,664,891	S169G	probably benign	Het
Hivep2	C	A	10: 14,128,969	T437K	probably benign	Het
Hlf	T	C	11: 90,345,835	K199E	probably damaging	Het
Hpgd	C	A	8: 56,298,413	A92E	probably damaging	Het
Hsp90aa1	T	A	12: 110,695,680	M1L	possibly damaging	Het
Hsp90aa1	C	A	12: 110,695,681		probably null	Het
Itgad	C	A	7: 128,190,981	H651N	possibly damaging	Het
Itgav	A	G	2: 83,776,542	D409G	probably damaging	Het
Kif2a	A	G	13: 106,976,756	I455T	probably damaging	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Lamc3	G	T	2: 31,908,625	G448C	probably damaging	Het
Ltbp1	G	A	17: 75,276,480	G425D	possibly damaging	Het
Ltbp1	T	A	17: 75,359,278		probably null	Het
Mag	C	T	7: 30,901,648		probably null	Het
Mdh1b	G	A	1: 63,711,531	T426M	possibly damaging	Het
Nr1h4	G	A	10: 89,478,788	T282I	possibly damaging	Het
Nsf	C	T	11: 103,930,752	E26K	possibly damaging	Het
Olfr1231	C	T	2: 89,303,218	V125M	possibly damaging	Het
Olfr1412	A	G	1: 92,588,813	N161S	probably benign	Het
Olfr552	T	C	7: 102,604,576	V74A	possibly damaging	Het
Padi6	A	G	4: 140,735,389	L307P	probably damaging	Het
Parp9	T	C	16: 35,948,208	S20P	probably damaging	Het
Pdcd11	T	C	19: 47,113,264	F963L	probably damaging	Het
Radil	A	G	5: 142,506,856	L339P	probably damaging	Het
Raver1	G	A	9: 21,079,277	P316S	possibly damaging	Het
Rell1	A	G	5: 63,926,987		probably null	Het
Rxrg	A	G	1: 167,635,700	D257G	possibly damaging	Het
Sema4c	C	T	1: 36,549,879	R722H	possibly damaging	Het
Sgk1	C	T	10: 21,996,601	R171W	probably damaging	Het
Spata7	A	G	12: 98,637,598	N75D	possibly damaging	Het
Ttc23l	A	G	15: 10,547,232	F99L	possibly damaging	Het
Unc13a	A	C	8: 71,629,695	C1642G	probably benign	Het
Usp36	C	T	11: 118,276,759		probably null	Het
Wrn	A	G	8: 33,317,554	M292T	probably damaging	Het
Zfp423	A	G	8: 87,782,331	Y462H	probably damaging	Het
Zscan5b	T	A	7: 6,231,346	Y124N	possibly damaging	Het
Zswim9	T	C	7: 13,277,270	T51A	possibly damaging	Het

Other mutations in Pwp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00707:Pwp1	APN	10	85878516	missense	probably damaging	1.00
IGL00778:Pwp1	APN	10	85879888	missense	probably benign	0.05
IGL01086:Pwp1	APN	10	85879893	splice site	probably null
IGL02526:Pwp1	APN	10	85882103	splice site	probably null
IGL02596:Pwp1	APN	10	85872018	splice site	probably null
IGL03164:Pwp1	APN	10	85878503	missense	probably benign	0.19
IGL03269:Pwp1	APN	10	85882904	missense	probably damaging	0.98
Annuals	UTSW	10	85876514	missense	probably damaging	1.00
R0031:Pwp1	UTSW	10	85885896	missense	probably benign	0.20
R0049:Pwp1	UTSW	10	85885616	missense	possibly damaging	0.67
R0049:Pwp1	UTSW	10	85885616	missense	possibly damaging	0.67
R0766:Pwp1	UTSW	10	85879309	missense	probably damaging	0.98
R0926:Pwp1	UTSW	10	85876514	missense	probably damaging	1.00
R1238:Pwp1	UTSW	10	85885862	missense	probably benign	0.02
R1312:Pwp1	UTSW	10	85879309	missense	probably damaging	0.98
R1420:Pwp1	UTSW	10	85876538	missense	probably damaging	1.00
R3177:Pwp1	UTSW	10	85882079	missense	probably benign	0.45
R3818:Pwp1	UTSW	10	85888129	missense	possibly damaging	0.76
R4008:Pwp1	UTSW	10	85882034	missense	possibly damaging	0.60
R5964:Pwp1	UTSW	10	85882886	missense	probably damaging	1.00
R6252:Pwp1	UTSW	10	85874509	missense	probably benign	0.00
R6280:Pwp1	UTSW	10	85874462	missense	probably damaging	0.99
R6765:Pwp1	UTSW	10	85884533	missense	probably damaging	0.99
R7168:Pwp1	UTSW	10	85884537	missense	probably damaging	1.00
R7213:Pwp1	UTSW	10	85876309	missense	probably benign
R7236:Pwp1	UTSW	10	85879283	missense	probably benign	0.00
R7840:Pwp1	UTSW	10	85888050	missense	probably damaging	1.00
R9025:Pwp1	UTSW	10	85882881	missense	probably damaging	1.00
R9063:Pwp1	UTSW	10	85884567	missense	probably benign	0.00
R9366:Pwp1	UTSW	10	85882006	missense	probably damaging	0.99
R9451:Pwp1	UTSW	10	85878564	missense	probably damaging	0.99
R9535:Pwp1	UTSW	10	85888094	missense	possibly damaging	0.57
R9563:Pwp1	UTSW	10	85876506	missense	probably damaging	0.99

Predicted Primers

Posted On

2017-05-11