Mutagenetix > Incidental Mutation

Incidental Mutation 'R0634:Pes1'

58157

Institutional Source

Beutler Lab

Gene Symbol

Pes1

Ensembl Gene

ENSMUSG00000020430

Gene Name

pescadillo ribosomal biogenesis factor 1

Synonyms

MMRRC Submission

038823-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0634 (G1)

Quality Score

215

Status

Validated

Chromosome

Chromosomal Location

3913975-3930004 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 3927794 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000105612 (fasta)

Gene Model

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

AlphaFold

Q9EQ61

Predicted Effect

probably benign
Transcript: ENSMUST00000020705

SMART Domains

Protein: ENSMUSP00000020705
Gene: ENSMUSG00000020430

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 benign
Transcript: ENSMUST00000109985

SMART Domains

Protein: ENSMUSP00000105612
Gene: ENSMUSG00000020430

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: ENSMUST00000137544

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.9%
20x: 96.2%

Validation Efficiency

98% (62/63)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,264,491 (GRCm39)	I2958V	possibly damaging	Het
Adam21	C	A	12: 81,607,126 (GRCm39)	W212L	probably benign	Het
Adcy2	A	C	13: 68,876,064 (GRCm39)	H479Q	possibly damaging	Het
Adcy4	T	C	14: 56,019,054 (GRCm39)	R168G	probably benign	Het
Adrm1b	C	T	3: 92,336,116 (GRCm39)	W125*	probably null	Het
Atp13a2	T	C	4: 140,734,240 (GRCm39)		probably benign	Het
C1ra	G	A	6: 124,494,464 (GRCm39)	E304K	possibly damaging	Het
Cc2d2a	A	C	5: 43,838,723 (GRCm39)		probably benign	Het
Cenpe	T	C	3: 134,952,588 (GRCm39)	L1426P	probably damaging	Het
Cntn1	A	T	15: 92,212,444 (GRCm39)	R869*	probably null	Het
Creb3l2	A	T	6: 37,311,283 (GRCm39)		probably benign	Het
Crybg2	G	A	4: 133,802,615 (GRCm39)		probably benign	Het
Csmd1	A	T	8: 16,276,405 (GRCm39)	F800I	probably damaging	Het
Dock6	G	A	9: 21,752,823 (GRCm39)	T330I	probably damaging	Het
Ets2	G	A	16: 95,517,200 (GRCm39)	E311K	possibly damaging	Het
Fbxo22	A	T	9: 55,122,244 (GRCm39)	Q141L	probably benign	Het
Fer	C	T	17: 64,342,503 (GRCm39)	T223M	probably benign	Het
Gtf3c1	A	T	7: 125,256,649 (GRCm39)		probably benign	Het
Gtf3c2	G	A	5: 31,317,150 (GRCm39)	R684*	probably null	Het
Hs6st3	T	A	14: 120,106,474 (GRCm39)	L294*	probably null	Het
Ighg2c	T	G	12: 113,251,584 (GRCm39)	E181A	unknown	Het
Igkv6-15	A	T	6: 70,383,763 (GRCm39)		probably benign	Het
Irag2	A	T	6: 145,120,354 (GRCm39)	H523L	probably damaging	Het
Map2k6	C	T	11: 110,385,169 (GRCm39)	R178*	probably null	Het
Meikin	T	A	11: 54,281,309 (GRCm39)	D126E	probably benign	Het
Mgst1	A	T	6: 138,133,329 (GRCm39)	T37S	probably damaging	Het
Mrc2	G	A	11: 105,238,518 (GRCm39)	V1222M	probably benign	Het
Myom2	C	A	8: 15,169,216 (GRCm39)		probably benign	Het
Negr1	A	G	3: 156,721,903 (GRCm39)	K159R	possibly damaging	Het
Nptx1	T	C	11: 119,434,127 (GRCm39)	T320A	possibly damaging	Het
Or12j3	A	T	7: 139,953,310 (GRCm39)	V71E	possibly damaging	Het
Or4p21	A	T	2: 88,276,961 (GRCm39)	M107K	probably benign	Het
Or5p66	T	C	7: 107,885,503 (GRCm39)	I277V	probably benign	Het
Pkhd1	A	T	1: 20,187,698 (GRCm39)	Y3537N	probably damaging	Het
Poteg	G	A	8: 27,963,615 (GRCm39)	G289R	probably benign	Het
Pramel29	A	G	4: 143,935,910 (GRCm39)		probably null	Het
Rassf5	T	C	1: 131,172,693 (GRCm39)	R59G	probably damaging	Het
Reln	A	T	5: 22,223,867 (GRCm39)	W961R	probably damaging	Het
Rhot2	G	A	17: 26,061,002 (GRCm39)	H168Y	possibly damaging	Het
Ripk3	G	T	14: 56,025,848 (GRCm39)		probably benign	Het
Samm50	A	G	15: 84,098,372 (GRCm39)		silent	Het
Sap30bp	T	C	11: 115,848,229 (GRCm39)	I117T	probably damaging	Het
Sephs1	A	G	2: 4,904,371 (GRCm39)	T250A	probably benign	Het
Sipa1l2	A	T	8: 126,149,363 (GRCm39)	L1632*	probably null	Het
Sirt7	T	C	11: 120,512,955 (GRCm39)		probably benign	Het
Smg8	T	C	11: 86,976,934 (GRCm39)	T216A	possibly damaging	Het
Sox9	A	G	11: 112,675,768 (GRCm39)	Y319C	probably damaging	Het
Sspn	G	A	6: 145,906,877 (GRCm39)	A27T	possibly damaging	Het
Suco	A	G	1: 161,666,373 (GRCm39)	V509A	possibly damaging	Het
Svep1	C	T	4: 58,070,661 (GRCm39)	C2375Y	possibly damaging	Het
Trbv21	T	A	6: 41,179,984 (GRCm39)		probably benign	Het
Uimc1	C	T	13: 55,208,079 (GRCm39)	E455K	possibly damaging	Het
Upk3b	A	G	5: 136,068,930 (GRCm39)	T100A	possibly damaging	Het
Usp47	A	G	7: 111,707,862 (GRCm39)	N1303D	probably damaging	Het
Vav1	A	T	17: 57,610,862 (GRCm39)	D476V	probably benign	Het
Vmn1r68	A	G	7: 10,261,162 (GRCm39)	V312A	probably benign	Het
Wdr62	A	G	7: 29,969,599 (GRCm39)	V287A	probably damaging	Het
Zcchc4	C	T	5: 52,940,550 (GRCm39)	P40S	probably benign	Het
Zfp326	T	A	5: 106,034,069 (GRCm39)	Y26*	probably null	Het
Zfp592	A	G	7: 80,687,819 (GRCm39)	H915R	probably damaging	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
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
R3773:Pes1	UTSW	11	3,925,548 (GRCm39)	missense	probably damaging	1.00
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'- GCCATAGGGTTGTCAGTTTTCGCAC -3'
(R):5'- CAGGAACCTACCTCTCGGATTTTGC -3'

Sequencing Primer
(F):5'- AGAAGTTACCTGCGATCTGC -3'
(R):5'- GATTTTGCGCCGCTTGC -3'

Posted On

2013-07-11