Mutagenetix > Incidental Mutation

Incidental Mutation 'R5964:Pwp1'

471962

Institutional Source

Beutler Lab

Gene Symbol

Pwp1

Ensembl Gene

ENSMUSG00000001785

Gene Name

PWP1 homolog, endonuclein

Synonyms

2610205J09Rik, 2310058A11Rik

MMRRC Submission

044149-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5964 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85707695-85724967 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 85718750 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Valine at position 306 (F306V)

Ref Sequence

ENSEMBL: ENSMUSP00000001836 (fasta)

Gene Model

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

AlphaFold

Q99LL5

Predicted Effect

probably damaging
Transcript: ENSMUST00000001836
AA Change: F306V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000001836
Gene: ENSMUSG00000001785
AA Change: F306V

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

0.8974

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.2%

Validation Efficiency

96% (87/91)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam15	G	A	3: 89,250,874 (GRCm39)	Q581*	probably null	Het
Agl	A	G	3: 116,587,423 (GRCm39)	V44A	probably damaging	Het
Alpk3	T	A	7: 80,742,008 (GRCm39)	D608E	possibly damaging	Het
Aspm	C	A	1: 139,382,965 (GRCm39)		probably benign	Het
Bbs2	T	C	8: 94,794,995 (GRCm39)	N692S	probably benign	Het
Bend4	A	G	5: 67,575,161 (GRCm39)	I240T	probably benign	Het
Casp8	G	T	1: 58,872,895 (GRCm39)	R277L	possibly damaging	Het
Ccdc61	A	T	7: 18,634,865 (GRCm39)	I123N	probably damaging	Het
Ccr9	T	G	9: 123,608,499 (GRCm39)	I60M	probably benign	Het
Cd163	T	A	6: 124,303,531 (GRCm39)	W1066R	probably benign	Het
Cd226	A	T	18: 89,225,307 (GRCm39)	H68L	probably benign	Het
Cdkn3	T	A	14: 47,004,674 (GRCm39)	C79S	probably null	Het
Cnnm1	A	T	19: 43,458,162 (GRCm39)	E658V	probably benign	Het
Cog7	T	C	7: 121,555,252 (GRCm39)	R304G	probably damaging	Het
Cpt1a	T	A	19: 3,415,760 (GRCm39)	V286E	possibly damaging	Het
Creg2	C	A	1: 39,664,122 (GRCm39)	R212L	probably benign	Het
Cyp26a1	T	G	19: 37,688,410 (GRCm39)	S311A	probably damaging	Het
Cyp2b10	T	C	7: 25,625,648 (GRCm39)	Y484H	probably benign	Het
Cyp3a44	T	A	5: 145,725,277 (GRCm39)	Y308F	possibly damaging	Het
Dlg5	A	G	14: 24,214,157 (GRCm39)	V744A	probably benign	Het
Dlgap2	T	A	8: 14,777,128 (GRCm39)	Y124*	probably null	Het
Dnah3	T	C	7: 119,522,103 (GRCm39)	D4030G	probably benign	Het
Dnah5	A	G	15: 28,458,730 (GRCm39)	T4456A	possibly damaging	Het
Dtx2	T	A	5: 136,052,553 (GRCm39)	V347D	probably benign	Het
Gigyf2	C	T	1: 87,334,889 (GRCm39)	T294M	probably damaging	Het
Gli3	C	G	13: 15,900,747 (GRCm39)	S1378*	probably null	Het
Gnao1	G	A	8: 94,693,627 (GRCm39)	D337N	probably benign	Het
Gp2	T	A	7: 119,048,352 (GRCm39)	Q422L	probably benign	Het
Ifit1	T	A	19: 34,625,869 (GRCm39)	M335K	possibly damaging	Het
Ism1	T	C	2: 139,520,677 (GRCm39)	S30P	probably benign	Het
Itgax	A	G	7: 127,739,619 (GRCm39)	D677G	probably damaging	Het
Kansl1l	G	A	1: 66,765,081 (GRCm39)	A442V	probably damaging	Het
Kif13a	T	C	13: 46,925,000 (GRCm39)	I311M	probably damaging	Het
Lrrc37	A	G	11: 103,432,946 (GRCm39)	S1232P	possibly damaging	Het
Lsm14b	T	A	2: 179,673,218 (GRCm39)	S84R	probably benign	Het
Lzts3	A	G	2: 130,478,208 (GRCm39)	Y297H	probably damaging	Het
Map4k3	A	G	17: 80,952,191 (GRCm39)	I205T	probably damaging	Het
Matn2	A	T	15: 34,410,311 (GRCm39)	N501I	probably damaging	Het
Mctp2	T	C	7: 71,752,925 (GRCm39)	E776G	probably damaging	Het
Mex3d	A	T	10: 80,218,421 (GRCm39)	N265K	probably damaging	Het
Myo5a	A	G	9: 75,111,115 (GRCm39)	T1534A	probably benign	Het
Ncoa7	T	C	10: 30,580,632 (GRCm39)	M35V	probably damaging	Het
Nek4	G	A	14: 30,679,036 (GRCm39)		probably null	Het
Ngrn	T	C	7: 79,911,681 (GRCm39)		probably null	Het
Nlrp1a	T	A	11: 71,013,846 (GRCm39)	Q468L	probably benign	Het
Or11g27	T	A	14: 50,771,655 (GRCm39)	M262K	probably damaging	Het
Or5b98	A	C	19: 12,931,895 (GRCm39)	Q314P	probably benign	Het
Phtf2	T	C	5: 20,980,932 (GRCm39)	D433G	probably damaging	Het
Prdm13	G	A	4: 21,683,852 (GRCm39)	Q140*	probably null	Het
Prtg	G	A	9: 72,799,536 (GRCm39)	G778E	probably benign	Het
Pum3	T	C	19: 27,397,451 (GRCm39)	E308G	probably damaging	Het
Rab24	A	T	13: 55,469,389 (GRCm39)	Y27N	probably damaging	Het
Rnf215	T	C	11: 4,085,898 (GRCm39)	F126L	probably benign	Het
Samd13	A	T	3: 146,386,451 (GRCm39)		probably benign	Het
Serac1	T	A	17: 6,115,324 (GRCm39)	H213L	probably benign	Het
Slc45a3	A	G	1: 131,905,811 (GRCm39)	E278G	probably damaging	Het
Slit3	C	T	11: 35,591,063 (GRCm39)	R1292C	probably damaging	Het
Slx4	A	T	16: 3,818,815 (GRCm39)		probably null	Het
Smarca4	C	A	9: 21,558,726 (GRCm39)	T631K	probably benign	Het
Snx16	C	T	3: 10,499,541 (GRCm39)	R163Q	possibly damaging	Het
Stk40	T	C	4: 126,022,688 (GRCm39)	V140A	probably damaging	Het
Tcf12	A	T	9: 71,775,522 (GRCm39)	D409E	probably damaging	Het
Tgfbr2	G	T	9: 115,939,323 (GRCm39)	T168K	possibly damaging	Het
Ticam1	G	T	17: 56,578,703 (GRCm39)	H131N	probably damaging	Het
Ttn	C	A	2: 76,660,232 (GRCm39)	R7458I	possibly damaging	Het
Ttn	C	A	2: 76,543,855 (GRCm39)	E31298*	probably null	Het
Usp7	A	G	16: 8,529,966 (GRCm39)	V133A	possibly damaging	Het
Wbp1l	C	T	19: 46,642,619 (GRCm39)	R191*	probably null	Het
Wdfy4	T	C	14: 32,827,968 (GRCm39)	E1118G	probably damaging	Het
Zfp81	G	C	17: 33,555,819 (GRCm39)	P3A	probably damaging	Het
Znhit6	A	G	3: 145,282,688 (GRCm39)	K21R	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
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
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'- GCTACATTATTCTTAGAAGTGCTAGCC -3'
(R):5'- TCTTGTCTTAGTGCAGGCAGAG -3'

Sequencing Primer
(F):5'- ATTAGGCCAGCCAGCTCTATGTAG -3'
(R):5'- TCTTAGTGCAGGCAGAGCTCAAG -3'

Posted On

2017-03-31