Mutagenetix > Incidental Mutation

Incidental Mutation 'R1929:Pes1'

215197

Institutional Source

Beutler Lab

Gene Symbol

Pes1

Ensembl Gene

ENSMUSG00000020430

Gene Name

pescadillo ribosomal biogenesis factor 1

Synonyms

MMRRC Submission

039947-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1929 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3963975-3980004 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 3969524 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Isoleucine at position 66 (L66I)

Ref Sequence

ENSEMBL: ENSMUSP00000105612 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020705] [ENSMUST00000042344] [ENSMUST00000109985]

AlphaFold

Q9EQ61

Predicted Effect

probably damaging
Transcript: ENSMUST00000020705
AA Change: L66I

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000020705
Gene: ENSMUSG00000020430
AA Change: L66I

Domain	Start	End	E-Value	Type
Pfam:Pescadillo_N	6	286	5.1e-135	PFAM
BRCT	323	404	4.81e-7	SMART
coiled coil region	469	542	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000042344

SMART Domains

Protein: ENSMUSP00000048953
Gene: ENSMUSG00000034493

Domain	Start	End	E-Value	Type
low complexity region	23	40	N/A	INTRINSIC
low complexity region	84	93	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000109985
AA Change: L66I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000105612
Gene: ENSMUSG00000020430
AA Change: L66I

Domain	Start	End	E-Value	Type
Pfam:Pescadillo_N	7	284	1.1e-130	PFAM
BRCT	327	408	4.81e-7	SMART
coiled coil region	473	546	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130973

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137544

Meta Mutation Damage Score

0.0710

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.4%

Validation Efficiency

98% (107/109)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear protein that contains a breast cancer associated gene 1 (BRCA1) C-terminal interaction domain. The encoded protein interacts with BOP1 and WDR12 to form the PeBoW complex, which plays a critical role in cell proliferation via pre-rRNA processing and 60S ribosomal subunit maturation. Expression of this gene may play an important role in breast cancer proliferation and tumorigenicity. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. Pseudogenes of this gene are located on the long arm of chromosome 4 and the short arm of chromosome 9. [provided by RefSeq, Aug 2011]
PHENOTYPE: Targeted disuption of the mouse gene results in embryonic arrest at morula stages of development, as well as failure of nucleologenesis and disruption of ribosome biogenesis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy10	A	T	1: 165,510,297	E160V	probably damaging	Het
Amdhd2	T	C	17: 24,157,886		probably null	Het
Angel1	A	C	12: 86,702,319	L656V	probably damaging	Het
Ankrd12	G	A	17: 65,986,686	S584L	possibly damaging	Het
Apbb2	T	A	5: 66,307,615	N679Y	probably benign	Het
Arid3c	T	A	4: 41,724,744	I364F	probably damaging	Het
Bcan	T	A	3: 87,993,094	S611C	probably damaging	Het
Bnip3	T	G	7: 138,894,630		silent	Het
Btc	T	C	5: 91,362,401	Y111C	probably damaging	Het
Carnmt1	T	C	19: 18,703,370	L336P	probably damaging	Het
Ccdc83	C	T	7: 90,224,077	V357I	probably damaging	Het
Cd2bp2	T	C	7: 127,193,878	D324G	probably benign	Het
Cdc20b	A	G	13: 113,071,917	T216A	probably benign	Het
Cdk17	T	C	10: 93,228,678	Y270H	probably damaging	Het
Cenpv	T	C	11: 62,525,233	E230G	probably benign	Het
Chst11	T	C	10: 83,191,170	Y144H	probably damaging	Het
Cracr2a	T	A	6: 127,607,298	F107I	probably damaging	Het
Cyfip1	G	T	7: 55,899,957	R624L	probably null	Het
Cyp27b1	T	A	10: 127,048,312	V11D	probably damaging	Het
Ddc	T	C	11: 11,835,764	N308D	probably damaging	Het
Des	T	G	1: 75,363,493	M348R	probably damaging	Het
Dis3l	T	A	9: 64,330,883	D109V	probably damaging	Het
Dnah3	T	A	7: 119,975,129	I2136F	probably benign	Het
Dnah9	T	C	11: 65,976,398	S2785G	probably benign	Het
Dopey1	T	G	9: 86,494,418	V235G	probably damaging	Het
Dtx3l	A	T	16: 35,933,689	D182E	possibly damaging	Het
Efcab6	A	G	15: 83,892,962		probably benign	Het
Elac2	T	A	11: 64,979,189	S27T	probably benign	Het
Emsy	T	G	7: 98,626,623	K352N	probably damaging	Het
Erbb4	T	C	1: 68,198,888	N814S	probably damaging	Het
Fam71e2	T	A	7: 4,758,187	T509S	probably benign	Het
Fgd6	T	C	10: 94,045,006	V574A	probably benign	Het
Filip1	T	C	9: 79,819,930	E469G	probably damaging	Het
Fmo1	A	T	1: 162,833,855	D286E	probably damaging	Het
Fmo4	A	T	1: 162,799,047	I310N	possibly damaging	Het
Focad	A	G	4: 88,342,212	N902D	unknown	Het
Focad	A	G	4: 88,397,179	S1525G	probably benign	Het
Fras1	T	C	5: 96,667,437	W1338R	probably benign	Het
Fry	A	G	5: 150,400,924	I1151V	probably null	Het
Gm10076	T	G	14: 105,681,870		noncoding transcript	Het
Gm13088	G	A	4: 143,654,142	T437I	probably damaging	Het
Gm5698	T	G	1: 30,977,961	D3A	probably damaging	Het
Gm8394	A	G	10: 85,313,731		noncoding transcript	Het
Gngt2	C	T	11: 95,845,146		probably benign	Het
Gsdma	T	C	11: 98,671,367		probably null	Het
Gtf2h3	A	T	5: 124,602,199		probably benign	Het
Hkdc1	T	C	10: 62,417,898	T35A	probably benign	Het
Irs1	T	C	1: 82,288,459	S679G	probably benign	Het
Itpr1	T	A	6: 108,493,755	C2214S	probably damaging	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 52,725,906	74	probably benign	Het
Kcnk16	A	G	14: 20,265,279	V72A	probably damaging	Het
Lipa	T	A	19: 34,510,890	R119*	probably null	Het
Matr3	T	A	18: 35,588,325		probably benign	Het
Med13l	T	G	5: 118,728,833	F651V	probably benign	Het
Mfsd11	T	C	11: 116,873,914	V388A	probably benign	Het
Mki67	C	T	7: 135,698,065	V1747I	possibly damaging	Het
Mms22l	T	C	4: 24,535,936		probably benign	Het
Msh5	A	G	17: 35,044,390	I154T	probably benign	Het
Myo5b	G	T	18: 74,733,925	L1382F	probably damaging	Het
Ncbp2	T	C	16: 31,956,951	Y138H	probably damaging	Het
Ndufv1	C	A	19: 4,008,347	R359L	probably benign	Het
Ntrk3	A	C	7: 78,516,723		probably null	Het
Olfr1234	A	G	2: 89,363,009	V140A	probably benign	Het
Olfr376	T	A	11: 73,375,601	V287E	probably damaging	Het
Olfr870	T	A	9: 20,171,409	H54L	possibly damaging	Het
P4ha1	A	G	10: 59,371,037	E523G	probably damaging	Het
Per3	T	A	4: 151,018,885	Y530F	probably damaging	Het
Pigr	G	A	1: 130,846,662		probably benign	Het
Pkd1l1	A	T	11: 8,836,197		probably benign	Het
Plch1	T	A	3: 63,744,535	K378N	probably damaging	Het
Plxnb1	T	C	9: 109,102,708		probably null	Het
Prkdc	A	G	16: 15,654,817		probably null	Het
Prrc1	G	T	18: 57,381,646	D312Y	probably damaging	Het
Rab3gap2	T	A	1: 185,283,542		probably null	Het
Rgs3	A	G	4: 62,702,147	I537V	probably damaging	Het
Rhobtb2	T	G	14: 69,796,444	D444A	probably damaging	Het
Rnf40	T	C	7: 127,591,784	S314P	probably damaging	Het
Rngtt	T	A	4: 33,500,302	C565*	probably null	Het
Samd3	A	G	10: 26,263,986		probably benign	Het
Sec61a2	A	G	2: 5,873,736		probably benign	Het
Serpina3m	G	A	12: 104,389,322	A83T	probably damaging	Het
Serpinb13	A	T	1: 106,999,026	I251L	possibly damaging	Het
Sez6	C	T	11: 77,972,932	T439I	probably damaging	Het
Shc1	G	A	3: 89,423,542	G91S	probably damaging	Het
Slc26a2	A	G	18: 61,198,578	C594R	possibly damaging	Het
Specc1l	C	T	10: 75,245,604	S278F	probably damaging	Het
Spg11	C	T	2: 122,060,207	V2044M	probably damaging	Het
Stx18	T	A	5: 38,128,039		probably null	Het
Suclg2	T	C	6: 95,589,094		probably benign	Het
Tlr4	A	T	4: 66,839,444	H158L	probably damaging	Het
Tmem131	A	G	1: 36,812,271	V966A	possibly damaging	Het
Tram1l1	T	A	3: 124,321,986	I265N	probably damaging	Het
Trim58	T	A	11: 58,640,667	F67Y	possibly damaging	Het
Ttc19	A	G	11: 62,281,824	Q74R	probably benign	Het
Usp7	T	C	16: 8,698,469	S649G	probably benign	Het
Vmn2r16	A	G	5: 109,339,258	Y115C	possibly damaging	Het
Zfp444	T	C	7: 6,189,555	C191R	probably damaging	Het
Zfp451	A	G	1: 33,782,193	F151L	probably damaging	Het
Zfp451	G	A	1: 33,783,856	P99S	probably benign	Het
Zfp729b	A	T	13: 67,592,233	C648S	probably damaging	Het
Zfp799	A	G	17: 32,821,803	Y58H	probably damaging	Het
Zfp804b	A	G	5: 6,769,748	V1069A	probably benign	Het
Zfp938	C	T	10: 82,225,547	G413D	probably damaging	Het

Other mutations in Pes1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00272:Pes1	APN	11	3976803	missense	probably damaging	1.00
IGL01448:Pes1	APN	11	3977979	missense	possibly damaging	0.89
H8441:Pes1	UTSW	11	3977636	small deletion	probably benign
R0634:Pes1	UTSW	11	3977794	splice site	probably benign
R0634:Pes1	UTSW	11	3977795	splice site	probably benign
R0883:Pes1	UTSW	11	3975557	missense	probably damaging	1.00
R0980:Pes1	UTSW	11	3977636	small deletion	probably benign
R1435:Pes1	UTSW	11	3976075	missense	probably benign	0.00
R1557:Pes1	UTSW	11	3976824	missense	probably damaging	1.00
R1694:Pes1	UTSW	11	3977719	small deletion	probably benign
R1885:Pes1	UTSW	11	3969482	missense	probably damaging	1.00
R2270:Pes1	UTSW	11	3969524	missense	probably damaging	1.00
R2272:Pes1	UTSW	11	3969524	missense	probably damaging	1.00
R2362:Pes1	UTSW	11	3977123	missense	probably damaging	1.00
R2869:Pes1	UTSW	11	3976834	missense	probably benign	0.05
R2869:Pes1	UTSW	11	3976834	missense	probably benign	0.05
R2870:Pes1	UTSW	11	3976834	missense	probably benign	0.05
R2870:Pes1	UTSW	11	3976834	missense	probably benign	0.05
R2871:Pes1	UTSW	11	3976834	missense	probably benign	0.05
R2871:Pes1	UTSW	11	3976834	missense	probably benign	0.05
R2873:Pes1	UTSW	11	3976834	missense	probably benign	0.05
R3024:Pes1	UTSW	11	3977719	small deletion	probably benign
R3039:Pes1	UTSW	11	3975547	missense	probably damaging	1.00
R3195:Pes1	UTSW	11	3975736	splice site	probably benign
R3773:Pes1	UTSW	11	3975548	missense	probably damaging	1.00
R4590:Pes1	UTSW	11	3977986	missense	probably damaging	1.00
R4739:Pes1	UTSW	11	3964058	missense	probably damaging	1.00
R5396:Pes1	UTSW	11	3977719	small deletion	probably benign
R6016:Pes1	UTSW	11	3978004	missense	possibly damaging	0.68
R6351:Pes1	UTSW	11	3978865	missense	probably benign
R6921:Pes1	UTSW	11	3973330	missense	probably damaging	0.98
R7315:Pes1	UTSW	11	3976085	missense	probably benign	0.00
R8178:Pes1	UTSW	11	3977718	missense	probably benign
R9599:Pes1	UTSW	11	3976118	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CAGAATCCATGCTTGGTCACTC -3'
(R):5'- ATCATCTTTTGAAGGGGCAGAG -3'

Sequencing Primer
(F):5'- GGTCACTCATGATTTCTAGGCCCAG -3'
(R):5'- CATTATGCATAGGTCCCATGCAAAGG -3'

Posted On

2014-07-14