Mutagenetix > Incidental Mutation

Incidental Mutation 'R6765:Pwp1'

531871

Institutional Source

Beutler Lab

Gene Symbol

Pwp1

Ensembl Gene

ENSMUSG00000001785

Gene Name

PWP1 homolog, endonuclein

Synonyms

2610205J09Rik, 2310058A11Rik

MMRRC Submission

044881-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6765 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

85707695-85724967 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 85720397 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 345 (E345K)

Ref Sequence

ENSEMBL: ENSMUSP00000001836 (fasta)

Gene Model

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

AlphaFold

Q99LL5

Predicted Effect

probably damaging
Transcript: ENSMUST00000001836
AA Change: E345K

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000001836
Gene: ENSMUSG00000001785
AA Change: E345K

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

probably benign
Transcript: ENSMUST00000219256

Meta Mutation Damage Score

0.5061

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.5%

Validation Efficiency

100% (58/58)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl3	C	A	7: 82,216,232 (GRCm39)	D878E	possibly damaging	Het
Adipor2	A	C	6: 119,334,203 (GRCm39)	F336V	possibly damaging	Het
Akt3	A	T	1: 176,877,756 (GRCm39)	Y337*	probably null	Het
Aoc1	A	G	6: 48,882,871 (GRCm39)	N249S	probably benign	Het
Ap1b1	T	A	11: 4,969,427 (GRCm39)	L261Q	probably damaging	Het
Ap3b1	T	A	13: 94,599,017 (GRCm39)	D530E	probably benign	Het
Arid4b	T	A	13: 14,361,900 (GRCm39)	M788K	possibly damaging	Het
Atp2c2	A	T	8: 120,479,756 (GRCm39)	I762F	probably damaging	Het
Bhlhe23	C	A	2: 180,418,136 (GRCm39)	R134L	probably damaging	Het
Cacna2d3	T	C	14: 28,777,934 (GRCm39)	D687G	probably damaging	Het
Ccdc136	G	A	6: 29,405,940 (GRCm39)	M95I	probably benign	Het
Cdk12	T	A	11: 98,115,355 (GRCm39)	I832N	unknown	Het
Clcn2	A	C	16: 20,526,418 (GRCm39)		probably null	Het
Csrnp2	C	T	15: 100,380,574 (GRCm39)	R239Q	probably damaging	Het
Dhrs13	T	A	11: 77,927,965 (GRCm39)	D270E	probably benign	Het
Dlgap2	G	A	8: 14,793,284 (GRCm39)	G426D	probably benign	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Fam120a	A	G	13: 49,045,440 (GRCm39)	Y799H	probably damaging	Het
Farp1	G	A	14: 121,460,066 (GRCm39)	V112I	probably benign	Het
Fhip2a	A	G	19: 57,367,177 (GRCm39)	D240G	probably benign	Het
Fsip2	A	G	2: 82,816,776 (GRCm39)	I4170V	probably benign	Het
Gm12185	A	G	11: 48,806,531 (GRCm39)	V220A	probably benign	Het
Gpr37l1	T	C	1: 135,094,860 (GRCm39)	Y128C	probably damaging	Het
Gsto2	A	T	19: 47,860,227 (GRCm39)	R7*	probably null	Het
Itih3	C	T	14: 30,631,430 (GRCm39)	G822D	probably benign	Het
Kcnu1	A	T	8: 26,403,673 (GRCm39)	D728V	probably damaging	Het
Khdc4	G	T	3: 88,593,736 (GRCm39)	G42W	probably damaging	Het
Lnpep	G	A	17: 17,750,758 (GRCm39)	T976I	probably damaging	Het
Map1b	A	C	13: 99,562,449 (GRCm39)	H2420Q	unknown	Het
Mc1r	A	G	8: 124,134,435 (GRCm39)	K63E	probably damaging	Het
Mpped1	G	A	15: 83,720,584 (GRCm39)	V15M	probably damaging	Het
Ncor1	T	C	11: 62,264,272 (GRCm39)	T103A	probably benign	Het
Nhsl1	A	T	10: 18,407,062 (GRCm39)	T1399S	probably benign	Het
Nlrc5	C	T	8: 95,216,996 (GRCm39)	T995M	probably benign	Het
Nrbp1	G	A	5: 31,403,190 (GRCm39)		probably null	Het
Or10g9	A	C	9: 39,912,493 (GRCm39)	F10C	probably damaging	Het
Or4c116	G	T	2: 88,942,640 (GRCm39)	T72N	possibly damaging	Het
Or8k27	T	C	2: 86,275,580 (GRCm39)	T249A	probably benign	Het
Pcdhb13	T	C	18: 37,576,663 (GRCm39)	L347P	probably damaging	Het
Pkhd1	T	C	1: 20,128,563 (GRCm39)	T4047A	probably benign	Het
Prrt2	T	A	7: 126,618,769 (GRCm39)	D232V	probably damaging	Het
Psmd5	A	C	2: 34,746,545 (GRCm39)	M344R	probably benign	Het
Qsox1	A	G	1: 155,666,851 (GRCm39)	Y213H	probably benign	Het
Rmc1	A	G	18: 12,309,203 (GRCm39)	N92D	possibly damaging	Het
Sclt1	T	C	3: 41,685,337 (GRCm39)	R39G	unknown	Het
Syne1	A	T	10: 5,093,285 (GRCm39)		probably null	Het
Tmem163	G	T	1: 127,479,078 (GRCm39)	A147E	probably damaging	Het
Trav13n-4	A	T	14: 53,601,557 (GRCm39)	M109L	probably benign	Het
Trp53bp1	T	C	2: 121,039,790 (GRCm39)	E1283G	probably damaging	Het
Trpm6	T	A	19: 18,855,129 (GRCm39)	D1929E	probably damaging	Het
Upb1	A	T	10: 75,273,978 (GRCm39)	D335V	probably damaging	Het
Vps26b	T	C	9: 26,924,104 (GRCm39)	E213G	probably damaging	Het
Vwc2	C	T	11: 11,104,215 (GRCm39)	T249I	probably benign	Het
Wwc2	A	G	8: 48,353,826 (GRCm39)	Y103H	possibly damaging	Het
Zan	A	G	5: 137,391,409 (GRCm39)	C4692R	unknown	Het
Zfp106	T	C	2: 120,369,935 (GRCm39)	E29G	probably damaging	Het
Zfp551	G	A	7: 12,150,767 (GRCm39)	A214V	possibly damaging	Het
Zfp981	T	A	4: 146,622,363 (GRCm39)	H429Q	probably benign	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
R3177:Pwp1	UTSW	10	85,717,943 (GRCm39)	missense	probably benign	0.45
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
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'- AAAATCCGCCAGTGAGCG -3'
(R):5'- GCCCAATGGAATAGTTGAAAATTAGC -3'

Sequencing Primer
(F):5'- TCTCTGCAAGAGGAGCAAGTTCTC -3'
(R):5'- GAAACATCACACTAGCAGAG -3'

Posted On

2018-08-29