Mutagenetix > Incidental Mutation

Incidental Mutation 'R7168:Pwp1'

558068

Institutional Source

Beutler Lab

Gene Symbol

Pwp1

Ensembl Gene

ENSMUSG00000001785

Gene Name

PWP1 homolog, endonuclein

Synonyms

2610205J09Rik, 2310058A11Rik

MMRRC Submission

045263-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7168 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

85707695-85724967 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 85720401 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Isoleucine at position 346 (R346I)

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: R346I

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

SMART Domains

Protein: ENSMUSP00000001836
Gene: ENSMUSG00000001785
AA Change: R346I

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (66/66)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	A	T	12: 71,262,831 (GRCm39)	D1388V	probably damaging	Het
2900026A02Rik	C	A	5: 113,285,659 (GRCm39)	R65L	probably damaging	Het
Abcb10	A	T	8: 124,693,350 (GRCm39)	L318Q		Het
Abhd18	T	A	3: 40,889,371 (GRCm39)	V417D	probably damaging	Het
Actl7a	A	G	4: 56,743,769 (GRCm39)	K99E	probably benign	Het
Adam2	A	T	14: 66,296,241 (GRCm39)	I206N	possibly damaging	Het
Adgrv1	G	T	13: 81,545,328 (GRCm39)	S5652R	possibly damaging	Het
Aebp2	C	T	6: 140,579,426 (GRCm39)	T221M	probably damaging	Het
Ahi1	T	A	10: 20,893,831 (GRCm39)	M854K	probably benign	Het
Alpi	T	A	1: 87,027,155 (GRCm39)	T375S	possibly damaging	Het
Apip	T	A	2: 102,922,813 (GRCm39)	C210*	probably null	Het
Arid3b	A	T	9: 57,712,818 (GRCm39)	D232E	probably benign	Het
Asic5	G	A	3: 81,919,282 (GRCm39)	C342Y	probably damaging	Het
BC035947	T	C	1: 78,476,230 (GRCm39)	M101V	probably benign	Het
Brd3	G	A	2: 27,344,411 (GRCm39)	R440C	possibly damaging	Het
Deaf1	C	T	7: 140,904,509 (GRCm39)		probably benign	Het
Eif2ak3	A	G	6: 70,858,610 (GRCm39)	T300A	probably benign	Het
Eml6	T	A	11: 29,788,529 (GRCm39)	I519F	probably benign	Het
Fat4	T	C	3: 39,034,808 (GRCm39)	F2820S	probably damaging	Het
Fcho2	A	G	13: 98,925,971 (GRCm39)	I132T	probably benign	Het
Garnl3	A	G	2: 32,885,090 (GRCm39)	V810A	probably damaging	Het
Gm14403	A	C	2: 177,201,318 (GRCm39)	Q179P	probably damaging	Het
Gm3127	A	G	14: 15,432,250 (GRCm39)	M251V	probably benign	Het
Hook3	A	G	8: 26,561,114 (GRCm39)	S298P	probably benign	Het
Impact	T	A	18: 13,119,370 (GRCm39)		probably null	Het
Itgal	T	C	7: 126,929,385 (GRCm39)	F1101L	probably benign	Het
Itih1	C	T	14: 30,656,064 (GRCm39)	R579Q	probably null	Het
Kansl2	T	C	15: 98,427,425 (GRCm39)		probably null	Het
Kng1	A	G	16: 22,898,391 (GRCm39)	D597G	probably benign	Het
Kpna1	A	G	16: 35,836,332 (GRCm39)		probably benign	Het
Lama2	C	T	10: 27,242,148 (GRCm39)		probably null	Het
Ltbp1	G	T	17: 75,598,361 (GRCm39)	C614F	probably damaging	Het
Luc7l3	T	C	11: 94,190,810 (GRCm39)	E168G	unknown	Het
Lvrn	A	C	18: 47,014,389 (GRCm39)	K525T	probably benign	Het
Mdn1	G	A	4: 32,719,184 (GRCm39)	R2249H	probably damaging	Het
Mmp16	G	T	4: 18,110,550 (GRCm39)	G449C	probably damaging	Het
Mst1r	T	C	9: 107,785,392 (GRCm39)	V350A	probably benign	Het
Muc5b	A	G	7: 141,417,754 (GRCm39)	M3567V	probably benign	Het
Mybl1	A	T	1: 9,748,513 (GRCm39)	L361Q	probably damaging	Het
Myom1	T	A	17: 71,396,942 (GRCm39)	S1063R	probably benign	Het
Notch4	A	C	17: 34,791,667 (GRCm39)	H582P	probably benign	Het
Nwd2	T	A	5: 63,964,837 (GRCm39)	C1474S	probably benign	Het
Or10ak14	A	T	4: 118,611,048 (GRCm39)	I231N	probably damaging	Het
Or4g17	A	T	2: 111,210,224 (GRCm39)	D293V	probably damaging	Het
Or5d36	A	C	2: 87,900,921 (GRCm39)	N268K	probably benign	Het
Or8b40	G	T	9: 38,027,959 (GRCm39)	S294I	probably damaging	Het
Pcmt1	A	T	10: 7,513,946 (GRCm39)	V241D	probably damaging	Het
Plcl1	T	A	1: 55,736,622 (GRCm39)	N654K	probably damaging	Het
Plg	G	A	17: 12,607,446 (GRCm39)	G121D	probably damaging	Het
Ptch1	A	G	13: 63,659,874 (GRCm39)	S1260P	probably benign	Het
R3hdm1	C	T	1: 128,144,232 (GRCm39)	T800I	probably benign	Het
Rab3gap2	A	G	1: 184,936,494 (GRCm39)	D19G	possibly damaging	Het
Resf1	T	G	6: 149,229,341 (GRCm39)	F796V	probably benign	Het
Slc1a3	G	T	15: 8,675,386 (GRCm39)	N206K	possibly damaging	Het
Slc6a3	T	C	13: 73,719,591 (GRCm39)	V540A	probably benign	Het
Sntb1	G	A	15: 55,654,661 (GRCm39)	P265S	probably benign	Het
Timm29	T	C	9: 21,504,749 (GRCm39)	V139A	probably damaging	Het
Tktl2	A	G	8: 66,965,753 (GRCm39)	E437G	probably damaging	Het
Tm2d3	T	A	7: 65,343,674 (GRCm39)	V56E	probably benign	Het
Trhr2	T	A	8: 123,087,276 (GRCm39)	T55S	probably damaging	Het
Trim17	T	G	11: 58,859,404 (GRCm39)	V206G	probably benign	Het
Trpm1	A	G	7: 63,918,445 (GRCm39)	N1479S	probably benign	Het
Trpv2	T	A	11: 62,473,914 (GRCm39)	C190S	probably benign	Het
Umod	A	T	7: 119,077,549 (GRCm39)		probably benign	Het
Usp34	T	A	11: 23,414,585 (GRCm39)	Y2862N		Het
Vmn1r158	A	G	7: 22,490,101 (GRCm39)	V36A	possibly damaging	Het
Zfp420	A	G	7: 29,574,791 (GRCm39)	Y337C	probably 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
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
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'- AAATCCGCCAGTGAGCGTC -3'
(R):5'- AGCCCAATGGAATAGTTGAAAATTAGC -3'

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

Posted On

2019-06-26