Mutagenetix > Incidental Mutation

Incidental Mutation 'R7236:Pwp1'

562833

Institutional Source

Beutler Lab

Gene Symbol

Pwp1

Ensembl Gene

ENSMUSG00000001785

Gene Name

PWP1 homolog, endonuclein

Synonyms

2610205J09Rik, 2310058A11Rik

MMRRC Submission

045306-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7236 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

85707695-85724967 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 85715147 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 211 (N211S)

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: N211S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000001836
Gene: ENSMUSG00000001785
AA Change: N211S

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: ENSMUST00000217667

Predicted Effect

probably benign
Transcript: ENSMUST00000219256

Meta Mutation Damage Score

0.1357

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn3	C	T	19: 4,921,644 (GRCm39)	V179I	probably benign	Het
Adra1b	A	G	11: 43,667,151 (GRCm39)	I362T	possibly damaging	Het
B3galnt1	T	C	3: 69,482,950 (GRCm39)	K104E	probably benign	Het
Bnc2	T	C	4: 84,474,101 (GRCm39)	Y15C	probably benign	Het
C2cd2l	C	A	9: 44,228,960 (GRCm39)	A124S	possibly damaging	Het
Camsap3	T	A	8: 3,654,116 (GRCm39)	F595L	probably damaging	Het
Cct2	A	T	10: 116,897,464 (GRCm39)	D93E	probably benign	Het
Cd200l2	A	T	16: 45,348,030 (GRCm39)	I169N	possibly damaging	Het
Cemip	A	T	7: 83,598,012 (GRCm39)		probably null	Het
Ciapin1	T	C	8: 95,550,338 (GRCm39)	T34A		Het
Dop1a	G	A	9: 86,397,431 (GRCm39)	V912I	probably damaging	Het
Efcab3	A	T	11: 104,790,093 (GRCm39)	Q2832L	probably benign	Het
Eif3c	T	C	7: 126,151,495 (GRCm39)	T610A	possibly damaging	Het
Ephb3	A	G	16: 21,033,231 (GRCm39)	R106G	probably damaging	Het
Ephx3	T	A	17: 32,404,328 (GRCm39)		probably null	Het
Etv2	A	T	7: 30,334,455 (GRCm39)	S93T	probably benign	Het
Fbxo34	T	A	14: 47,767,841 (GRCm39)	D451E	probably benign	Het
Fmo9	A	G	1: 166,504,140 (GRCm39)	F141L	probably damaging	Het
Fryl	T	C	5: 73,265,821 (GRCm39)	K500R	possibly damaging	Het
Gfra3	T	C	18: 34,828,884 (GRCm39)	D170G	probably damaging	Het
Gnptg	T	C	17: 25,458,897 (GRCm39)	N34S	possibly damaging	Het
Golga5	T	A	12: 102,441,034 (GRCm39)		probably null	Het
Herc2	G	T	7: 55,734,828 (GRCm39)	L139F	probably benign	Het
Ikzf2	T	A	1: 69,578,240 (GRCm39)	N423I	probably benign	Het
Il31ra	A	T	13: 112,660,439 (GRCm39)	*717R	probably null	Het
Itga2	G	T	13: 115,014,227 (GRCm39)	Q234K	probably benign	Het
Kcnt1	A	T	2: 25,799,951 (GRCm39)		probably null	Het
Kif19b	G	T	5: 140,457,400 (GRCm39)	A390S	probably benign	Het
Man2a2	T	C	7: 80,018,653 (GRCm39)	S69G	probably damaging	Het
Mccc1	A	G	3: 36,037,944 (GRCm39)	V294A	probably benign	Het
Mphosph8	T	A	14: 56,911,754 (GRCm39)	I259K	possibly damaging	Het
Mrpl15	A	T	1: 4,846,711 (GRCm39)	N288K	probably benign	Het
Msantd2	T	C	9: 37,400,965 (GRCm39)	W116R	probably damaging	Het
Msantd5f9	G	T	4: 73,835,808 (GRCm39)	L219M	probably benign	Het
Mtmr10	T	C	7: 63,963,932 (GRCm39)		probably benign	Het
Mylk	A	T	16: 34,742,899 (GRCm39)	D1137V	probably damaging	Het
Nhsl1	A	G	10: 18,401,512 (GRCm39)	K879E	probably damaging	Het
Or8j3c	A	T	2: 86,253,533 (GRCm39)	C162*	probably null	Het
Pak6	A	G	2: 118,523,909 (GRCm39)	T355A	probably benign	Het
Patj	C	T	4: 98,299,294 (GRCm39)	R139C	probably damaging	Het
Pcdhb3	C	T	18: 37,434,505 (GRCm39)	A157V	probably damaging	Het
Phkg1	C	A	5: 129,895,802 (GRCm39)	D150Y	probably damaging	Het
Ppp2r5c	C	T	12: 110,432,323 (GRCm39)	S45L	probably benign	Het
Prl4a1	A	C	13: 28,202,556 (GRCm39)	T44P	probably benign	Het
Ptpro	G	A	6: 137,345,335 (GRCm39)	V114M	probably damaging	Het
Ralgapb	A	G	2: 158,282,747 (GRCm39)	D504G	probably benign	Het
Rock2	A	T	12: 16,979,003 (GRCm39)	I98F	probably damaging	Het
Senp6	G	T	9: 80,040,247 (GRCm39)	V785L	probably damaging	Het
Simc1	A	G	13: 54,672,609 (GRCm39)	D319G	probably benign	Het
Tas2r105	A	T	6: 131,663,723 (GRCm39)	I235N	probably damaging	Het
Tas2r110	A	T	6: 132,845,667 (GRCm39)	M233L	possibly damaging	Het
Tmem260	C	T	14: 48,746,647 (GRCm39)		probably null	Het
Trank1	G	T	9: 111,202,142 (GRCm39)	V1590L	possibly damaging	Het
Tsc2	A	T	17: 24,842,568 (GRCm39)	M286K	possibly damaging	Het
Ttn	T	C	2: 76,697,796 (GRCm39)	T202A		Het
Ttyh1	A	G	7: 4,136,663 (GRCm39)	N424D	probably benign	Het
Usp24	T	A	4: 106,263,502 (GRCm39)		probably null	Het
Utp20	G	T	10: 88,585,204 (GRCm39)	P2620Q	probably benign	Het
Vmn1r45	A	G	6: 89,910,133 (GRCm39)	M279T	probably benign	Het
Vmn2r115	T	A	17: 23,578,576 (GRCm39)	I683K	probably benign	Het
Vmn2r34	T	C	7: 7,684,750 (GRCm39)	K481E	probably damaging	Het
Vmn2r54	T	A	7: 12,365,917 (GRCm39)	H339L	possibly damaging	Het
Vmn2r94	T	A	17: 18,477,811 (GRCm39)	N200I	possibly damaging	Het
Wdfy3	A	G	5: 101,984,074 (GRCm39)	Y3493H	probably damaging	Het
Wdr5b	A	G	16: 35,862,208 (GRCm39)	D109G	possibly damaging	Het
Zfp286	A	T	11: 62,674,496 (GRCm39)		probably null	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
R7168:Pwp1	UTSW	10	85,720,401 (GRCm39)	missense	probably damaging	1.00
R7213:Pwp1	UTSW	10	85,712,173 (GRCm39)	missense	probably benign
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'- AACTCTCAAGCTCAGGGGTG -3'
(R):5'- CCTGTTCCACCAAAACTATCTGATTG -3'

Sequencing Primer
(F):5'- GGCATGGGAACTGTTAGGCC -3'
(R):5'- CTATCTGATTGCAACAATACAAGTTC -3'

Posted On

2019-06-26