Mutagenetix > Incidental Mutation

Incidental Mutation 'R3773:Pes1'

273447

Institutional Source

Beutler Lab

Gene Symbol

Pes1

Ensembl Gene

ENSMUSG00000020430

Gene Name

pescadillo ribosomal biogenesis factor 1

Synonyms

MMRRC Submission

040749-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3773 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

3913975-3930004 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3925548 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 221 (Y221C)

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: Y217C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000020705
Gene: ENSMUSG00000020430
AA Change: Y217C

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: Y221C

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

SMART Domains

Protein: ENSMUSP00000105612
Gene: ENSMUSG00000020430
AA Change: Y221C

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	A	6: 128,532,046 (GRCm39)	K899N	probably benign	Het
Acsbg3	T	C	17: 57,183,262 (GRCm39)	M1T	probably null	Het
Adgrv1	G	A	13: 81,647,162 (GRCm39)	S3126L	probably damaging	Het
Apba3	C	A	10: 81,108,443 (GRCm39)		probably null	Het
Apobec4	G	T	1: 152,632,556 (GRCm39)	A195S	probably benign	Het
Asap3	C	T	4: 135,954,886 (GRCm39)	T72I	probably benign	Het
Cand2	T	A	6: 115,762,178 (GRCm39)	H201Q	probably damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Chd1	A	G	17: 17,594,913 (GRCm39)	D16G	probably damaging	Het
Csgalnact2	T	C	6: 118,103,180 (GRCm39)	K19E	probably benign	Het
Cspg4b	A	G	13: 113,454,743 (GRCm39)	E263G	probably benign	Het
Cyp17a1	T	G	19: 46,658,162 (GRCm39)	K250T	probably damaging	Het
Ddx41	G	A	13: 55,682,293 (GRCm39)	R205W	possibly damaging	Het
Dgcr8	T	C	16: 18,074,639 (GRCm39)	D712G	probably damaging	Het
Dsg2	T	C	18: 20,724,919 (GRCm39)	W442R	probably damaging	Het
Elavl2	C	T	4: 91,152,325 (GRCm39)	G131R	probably damaging	Het
Elf1	T	C	14: 79,804,650 (GRCm39)	V105A	possibly damaging	Het
Ercc6l2	A	G	13: 63,989,264 (GRCm39)	D270G	probably damaging	Het
Fmn1	T	G	2: 113,412,463 (GRCm39)	S996A	probably damaging	Het
Frmd4a	A	T	2: 4,595,433 (GRCm39)	E109D	probably damaging	Het
Fry	A	T	5: 150,321,663 (GRCm39)	R999S	probably damaging	Het
Gak	G	A	5: 108,730,538 (GRCm39)	T956I	probably benign	Het
Gps2	T	C	11: 69,806,927 (GRCm39)	F21L	probably damaging	Het
Grhl3	C	T	4: 135,283,158 (GRCm39)	W303*	probably null	Het
Hmcn2	C	T	2: 31,250,908 (GRCm39)	T790M	probably damaging	Het
Lrp5	G	A	19: 3,662,330 (GRCm39)	R173C	probably damaging	Het
Matk	T	A	10: 81,094,131 (GRCm39)	L21Q	probably benign	Het
Mthfr	T	C	4: 148,128,907 (GRCm39)	V160A	probably benign	Het
Nhlrc4	T	A	17: 26,162,367 (GRCm39)	K127*	probably null	Het
Nsd1	G	A	13: 55,394,486 (GRCm39)	V696I	probably benign	Het
Nup210l	T	G	3: 90,027,201 (GRCm39)	Y194*	probably null	Het
Or1j16	A	T	2: 36,530,333 (GRCm39)	Y94F	probably benign	Het
Or2h2	G	T	17: 37,396,957 (GRCm39)	Y33*	probably null	Het
Or7a41	G	A	10: 78,871,014 (GRCm39)	C128Y	possibly damaging	Het
Or9q2	T	A	19: 13,772,568 (GRCm39)	M136L	probably benign	Het
Pcdhb15	T	A	18: 37,608,943 (GRCm39)	V725D	probably benign	Het
Prkd3	T	C	17: 79,266,535 (GRCm39)	I603V	possibly damaging	Het
Ptpn13	A	G	5: 103,624,987 (GRCm39)	E97G	probably damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Ptprs	T	C	17: 56,735,978 (GRCm39)	T152A	possibly damaging	Het
Rims1	T	C	1: 22,492,034 (GRCm39)	D842G	probably damaging	Het
Rin2	C	T	2: 145,702,366 (GRCm39)	T354I	probably benign	Het
Rnf26rt	C	T	6: 76,473,942 (GRCm39)	V225I	probably benign	Het
Rngtt	T	C	4: 33,330,889 (GRCm39)	I164T	probably damaging	Het
Scn9a	T	C	2: 66,313,992 (GRCm39)	N1909D	probably benign	Het
Shisal1	A	T	15: 84,290,886 (GRCm39)	Y120*	probably null	Het
Ska3	C	T	14: 58,047,534 (GRCm39)	V334I	probably benign	Het
Slco1a8	T	C	6: 141,918,061 (GRCm39)	K605R	probably benign	Het
Srebf2	A	G	15: 82,066,309 (GRCm39)	K579R	probably benign	Het
Stxbp5	G	A	10: 9,644,671 (GRCm39)	T960I	probably damaging	Het
Suco	A	T	1: 161,671,565 (GRCm39)		probably null	Het
Tecta	T	C	9: 42,242,292 (GRCm39)	T2094A	probably damaging	Het
Tenm4	A	T	7: 96,344,087 (GRCm39)	R227W	probably damaging	Het
Tmem131l	A	G	3: 83,805,893 (GRCm39)	S1517P	probably damaging	Het
Trio	A	G	15: 27,748,177 (GRCm39)	S2492P	probably damaging	Het
Tsg101	T	C	7: 46,539,363 (GRCm39)	*254W	probably null	Het
Ttn	T	C	2: 76,601,711 (GRCm39)	T16872A	probably benign	Het
Ugt2b38	A	G	5: 87,571,954 (GRCm39)	V26A	probably damaging	Het
Upb1	T	A	10: 75,275,672 (GRCm39)		probably null	Het
Vmn1r32	T	A	6: 66,530,351 (GRCm39)	I142F	probably benign	Het
Vmn1r60	C	A	7: 5,547,710 (GRCm39)	C130F	possibly damaging	Het
Vmn2r101	A	G	17: 19,809,919 (GRCm39)	D235G	probably benign	Het
Wnk1	C	T	6: 119,979,241 (GRCm39)	R282Q	possibly damaging	Het
Xrn2	T	C	2: 146,903,207 (GRCm39)	V765A	probably benign	Het
Zbed4	T	C	15: 88,665,050 (GRCm39)	S373P	probably benign	Het
Zfp251	A	G	15: 76,737,836 (GRCm39)	I414T	possibly damaging	Het
Zfp423	A	T	8: 88,507,140 (GRCm39)	L1047Q	probably benign	Het
Zfp426	A	T	9: 20,384,413 (GRCm39)		probably null	Het
Zfp61	T	C	7: 23,995,406 (GRCm39)	M1V	probably null	Het

Other mutations in Pes1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00272:Pes1	APN	11	3,926,803 (GRCm39)	missense	probably damaging	1.00
IGL01448:Pes1	APN	11	3,927,979 (GRCm39)	missense	possibly damaging	0.89
H8441:Pes1	UTSW	11	3,927,636 (GRCm39)	small deletion	probably benign
R0634:Pes1	UTSW	11	3,927,795 (GRCm39)	splice site	probably benign
R0634:Pes1	UTSW	11	3,927,794 (GRCm39)	splice site	probably benign
R0883:Pes1	UTSW	11	3,925,557 (GRCm39)	missense	probably damaging	1.00
R0980:Pes1	UTSW	11	3,927,636 (GRCm39)	small deletion	probably benign
R1435:Pes1	UTSW	11	3,926,075 (GRCm39)	missense	probably benign	0.00
R1557:Pes1	UTSW	11	3,926,824 (GRCm39)	missense	probably damaging	1.00
R1694:Pes1	UTSW	11	3,927,719 (GRCm39)	small deletion	probably benign
R1885:Pes1	UTSW	11	3,919,482 (GRCm39)	missense	probably damaging	1.00
R1929:Pes1	UTSW	11	3,919,524 (GRCm39)	missense	probably damaging	1.00
R2270:Pes1	UTSW	11	3,919,524 (GRCm39)	missense	probably damaging	1.00
R2272:Pes1	UTSW	11	3,919,524 (GRCm39)	missense	probably damaging	1.00
R2362:Pes1	UTSW	11	3,927,123 (GRCm39)	missense	probably damaging	1.00
R2869:Pes1	UTSW	11	3,926,834 (GRCm39)	missense	probably benign	0.05
R2869:Pes1	UTSW	11	3,926,834 (GRCm39)	missense	probably benign	0.05
R2870:Pes1	UTSW	11	3,926,834 (GRCm39)	missense	probably benign	0.05
R2870:Pes1	UTSW	11	3,926,834 (GRCm39)	missense	probably benign	0.05
R2871:Pes1	UTSW	11	3,926,834 (GRCm39)	missense	probably benign	0.05
R2871:Pes1	UTSW	11	3,926,834 (GRCm39)	missense	probably benign	0.05
R2873:Pes1	UTSW	11	3,926,834 (GRCm39)	missense	probably benign	0.05
R3024:Pes1	UTSW	11	3,927,719 (GRCm39)	small deletion	probably benign
R3039:Pes1	UTSW	11	3,925,547 (GRCm39)	missense	probably damaging	1.00
R3195:Pes1	UTSW	11	3,925,736 (GRCm39)	splice site	probably benign
R4590:Pes1	UTSW	11	3,927,986 (GRCm39)	missense	probably damaging	1.00
R4739:Pes1	UTSW	11	3,914,058 (GRCm39)	missense	probably damaging	1.00
R5396:Pes1	UTSW	11	3,927,719 (GRCm39)	small deletion	probably benign
R6016:Pes1	UTSW	11	3,928,004 (GRCm39)	missense	possibly damaging	0.68
R6351:Pes1	UTSW	11	3,928,865 (GRCm39)	missense	probably benign
R6921:Pes1	UTSW	11	3,923,330 (GRCm39)	missense	probably damaging	0.98
R7315:Pes1	UTSW	11	3,926,085 (GRCm39)	missense	probably benign	0.00
R8178:Pes1	UTSW	11	3,927,718 (GRCm39)	missense	probably benign
R9599:Pes1	UTSW	11	3,926,118 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCCCGCTGACAATTGACAG -3'
(R):5'- TAGTCTCTTGCCTCAGGGTG -3'

Sequencing Primer
(F):5'- GAGCACTGTAGATCCCCTTG -3'
(R):5'- CTTGCCTCAGGGTGGGGATAG -3'

Posted On

2015-03-25