Mutagenetix > Incidental Mutation

Incidental Mutation 'R3177:Pwp1'

259172

Institutional Source

Beutler Lab

Gene Symbol

Pwp1

Ensembl Gene

ENSMUSG00000001785

Gene Name

PWP1 homolog, endonuclein

Synonyms

2610205J09Rik, 2310058A11Rik

MMRRC Submission

040615-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3177 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85707695-85724967 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 85717943 bp (GRCm39)

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: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.4%

Validation Efficiency

100% (21/21)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	T	C	2: 151,314,020 (GRCm39)	R553G	possibly damaging	Het
Adarb2	A	G	13: 8,802,663 (GRCm39)	N646S	probably damaging	Het
Adcy8	C	T	15: 64,571,008 (GRCm39)	G1242S	probably benign	Het
Ano9	T	A	7: 140,684,037 (GRCm39)	T543S	probably damaging	Het
Btnl10	A	G	11: 58,813,216 (GRCm39)	K282E	probably benign	Het
Btnl9	T	C	11: 49,060,503 (GRCm39)	D330G	probably damaging	Het
Ccdc178	G	T	18: 22,200,709 (GRCm39)	A416E	possibly damaging	Het
Cdx2	A	T	5: 147,240,002 (GRCm39)	S225T	probably benign	Het
Clca4b	T	C	3: 144,617,120 (GRCm39)	I843M	probably benign	Het
Cntn4	G	A	6: 106,414,925 (GRCm39)		probably null	Het
Cyb561	T	C	11: 105,826,613 (GRCm39)		probably benign	Het
Cyp4f18	T	C	8: 72,747,044 (GRCm39)	D317G	possibly damaging	Het
Dennd4a	G	T	9: 64,796,275 (GRCm39)	R767L	probably damaging	Het
Dgkb	G	A	12: 38,134,216 (GRCm39)	V41M	probably damaging	Het
Duox1	T	C	2: 122,170,597 (GRCm39)	Y1206H	probably damaging	Het
Dync1i1	T	C	6: 5,972,211 (GRCm39)		probably null	Het
Fbxw2	T	C	2: 34,712,762 (GRCm39)	T100A	probably benign	Het
Fcgbp	C	A	7: 27,791,086 (GRCm39)	H782Q	probably damaging	Het
Flg2	A	T	3: 93,122,195 (GRCm39)	Q1455L	unknown	Het
Frrs1	T	C	3: 116,692,873 (GRCm39)	F49S	probably damaging	Het
Gli3	A	T	13: 15,900,567 (GRCm39)	Q1318L	probably benign	Het
Gm5581	C	G	6: 131,143,928 (GRCm39)		noncoding transcript	Het
Gm5592	A	G	7: 40,937,804 (GRCm39)	E362G	probably benign	Het
Gm7104	A	T	12: 88,252,498 (GRCm39)		noncoding transcript	Het
Gpatch2l	A	G	12: 86,291,089 (GRCm39)	T91A	possibly damaging	Het
Hacd4	T	C	4: 88,355,747 (GRCm39)	H46R	probably damaging	Het
Hao2	T	C	3: 98,787,644 (GRCm39)		probably benign	Het
Herc2	T	C	7: 55,803,176 (GRCm39)	V2175A	probably benign	Het
Hey1	T	C	3: 8,729,951 (GRCm39)	S169G	probably benign	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Hlf	T	C	11: 90,236,661 (GRCm39)	K199E	probably damaging	Het
Hpgd	C	A	8: 56,751,448 (GRCm39)	A92E	probably damaging	Het
Hsp90aa1	T	A	12: 110,662,114 (GRCm39)	M1L	possibly damaging	Het
Hsp90aa1	C	A	12: 110,662,115 (GRCm39)		probably null	Het
Itgad	C	A	7: 127,790,153 (GRCm39)	H651N	possibly damaging	Het
Itgav	A	G	2: 83,606,886 (GRCm39)	D409G	probably damaging	Het
Kif2a	A	G	13: 107,113,264 (GRCm39)	I455T	probably damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lamc3	G	T	2: 31,798,637 (GRCm39)	G448C	probably damaging	Het
Ltbp1	G	A	17: 75,583,475 (GRCm39)	G425D	possibly damaging	Het
Ltbp1	T	A	17: 75,666,273 (GRCm39)		probably null	Het
Mag	C	T	7: 30,601,073 (GRCm39)		probably null	Het
Mdh1b	G	A	1: 63,750,690 (GRCm39)	T426M	possibly damaging	Het
Nr1h4	G	A	10: 89,314,650 (GRCm39)	T282I	possibly damaging	Het
Nsf	C	T	11: 103,821,578 (GRCm39)	E26K	possibly damaging	Het
Or4c1	C	T	2: 89,133,562 (GRCm39)	V125M	possibly damaging	Het
Or52k2	T	C	7: 102,253,783 (GRCm39)	V74A	possibly damaging	Het
Or9s27	A	G	1: 92,516,535 (GRCm39)	N161S	probably benign	Het
Padi6	A	G	4: 140,462,700 (GRCm39)	L307P	probably damaging	Het
Parp9	T	C	16: 35,768,578 (GRCm39)	S20P	probably damaging	Het
Pdcd11	T	C	19: 47,101,703 (GRCm39)	F963L	probably damaging	Het
Radil	A	G	5: 142,492,611 (GRCm39)	L339P	probably damaging	Het
Raver1	G	A	9: 20,990,573 (GRCm39)	P316S	possibly damaging	Het
Rell1	A	G	5: 64,084,330 (GRCm39)		probably null	Het
Rxrg	A	G	1: 167,463,269 (GRCm39)	D257G	possibly damaging	Het
Sema4c	C	T	1: 36,588,960 (GRCm39)	R722H	possibly damaging	Het
Sgk1	C	T	10: 21,872,500 (GRCm39)	R171W	probably damaging	Het
Spata7	A	G	12: 98,603,857 (GRCm39)	N75D	possibly damaging	Het
Ttc23l	A	G	15: 10,547,318 (GRCm39)	F99L	possibly damaging	Het
Unc13a	A	C	8: 72,082,339 (GRCm39)	C1642G	probably benign	Het
Usp36	C	T	11: 118,167,585 (GRCm39)		probably null	Het
Wrn	A	G	8: 33,807,582 (GRCm39)	M292T	probably damaging	Het
Zfp423	A	G	8: 88,508,959 (GRCm39)	Y462H	probably damaging	Het
Zscan5b	T	A	7: 6,234,345 (GRCm39)	Y124N	possibly damaging	Het
Zswim9	T	C	7: 13,011,196 (GRCm39)	T51A	possibly damaging	Het

Other mutations in Pwp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00707:Pwp1	APN	10	85,714,380 (GRCm39)	missense	probably damaging	1.00
IGL00778:Pwp1	APN	10	85,715,752 (GRCm39)	missense	probably benign	0.05
IGL01086:Pwp1	APN	10	85,715,757 (GRCm39)	splice site	probably null
IGL02526:Pwp1	APN	10	85,717,967 (GRCm39)	splice site	probably null
IGL02596:Pwp1	APN	10	85,707,882 (GRCm39)	splice site	probably null
IGL03164:Pwp1	APN	10	85,714,367 (GRCm39)	missense	probably benign	0.19
IGL03269:Pwp1	APN	10	85,718,768 (GRCm39)	missense	probably damaging	0.98
Annuals	UTSW	10	85,712,378 (GRCm39)	missense	probably damaging	1.00
R0031:Pwp1	UTSW	10	85,721,760 (GRCm39)	missense	probably benign	0.20
R0049:Pwp1	UTSW	10	85,721,480 (GRCm39)	missense	possibly damaging	0.67
R0049:Pwp1	UTSW	10	85,721,480 (GRCm39)	missense	possibly damaging	0.67
R0766:Pwp1	UTSW	10	85,715,173 (GRCm39)	missense	probably damaging	0.98
R0926:Pwp1	UTSW	10	85,712,378 (GRCm39)	missense	probably damaging	1.00
R1238:Pwp1	UTSW	10	85,721,726 (GRCm39)	missense	probably benign	0.02
R1312:Pwp1	UTSW	10	85,715,173 (GRCm39)	missense	probably damaging	0.98
R1420:Pwp1	UTSW	10	85,712,402 (GRCm39)	missense	probably damaging	1.00
R3277:Pwp1	UTSW	10	85,717,943 (GRCm39)	missense	probably benign	0.45
R3818:Pwp1	UTSW	10	85,723,993 (GRCm39)	missense	possibly damaging	0.76
R4008:Pwp1	UTSW	10	85,717,898 (GRCm39)	missense	possibly damaging	0.60
R5964:Pwp1	UTSW	10	85,718,750 (GRCm39)	missense	probably damaging	1.00
R6252:Pwp1	UTSW	10	85,710,373 (GRCm39)	missense	probably benign	0.00
R6280:Pwp1	UTSW	10	85,710,326 (GRCm39)	missense	probably damaging	0.99
R6765:Pwp1	UTSW	10	85,720,397 (GRCm39)	missense	probably damaging	0.99
R7168:Pwp1	UTSW	10	85,720,401 (GRCm39)	missense	probably damaging	1.00
R7213:Pwp1	UTSW	10	85,712,173 (GRCm39)	missense	probably benign
R7236:Pwp1	UTSW	10	85,715,147 (GRCm39)	missense	probably benign	0.00
R7840:Pwp1	UTSW	10	85,723,914 (GRCm39)	missense	probably damaging	1.00
R9025:Pwp1	UTSW	10	85,718,745 (GRCm39)	missense	probably damaging	1.00
R9063:Pwp1	UTSW	10	85,720,431 (GRCm39)	missense	probably benign	0.00
R9366:Pwp1	UTSW	10	85,717,870 (GRCm39)	missense	probably damaging	0.99
R9451:Pwp1	UTSW	10	85,714,428 (GRCm39)	missense	probably damaging	0.99
R9535:Pwp1	UTSW	10	85,723,958 (GRCm39)	missense	possibly damaging	0.57
R9563:Pwp1	UTSW	10	85,712,370 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGCAGTGGCTCACAACAAAATG -3'
(R):5'- TTGTATCTATTACACAGGGCTCTG -3'

Sequencing Primer
(F):5'- GCTTGTAGCTCAACCTAGAAGTGC -3'
(R):5'- AGGGCTCTGTGACGTGAC -3'

Posted On

2015-01-23