Mutagenetix > Incidental Mutation

Incidental Mutation 'R1557:Pes1'

170360

Institutional Source

Beutler Lab

Gene Symbol

Pes1

Ensembl Gene

ENSMUSG00000020430

Gene Name

pescadillo ribosomal biogenesis factor 1

Synonyms

MMRRC Submission

039596-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1557 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3913975-3930004 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 3926824 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 369 (Y369N)

Ref Sequence

ENSEMBL: ENSMUSP00000105612 (fasta)

Gene Model

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

AlphaFold

Q9EQ61

Predicted Effect

probably benign
Transcript: ENSMUST00000020705
AA Change: Y365N

PolyPhen 2 Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000020705
Gene: ENSMUSG00000020430
AA Change: Y365N

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: Y369N

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

SMART Domains

Protein: ENSMUSP00000105612
Gene: ENSMUSG00000020430
AA Change: Y369N

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

0.4469

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.1%

Validation Efficiency

96% (75/78)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019A02Rik	A	C	1: 53,221,025 (GRCm39)	D68E	possibly damaging	Het
Abca3	T	C	17: 24,618,954 (GRCm39)	V870A	possibly damaging	Het
Aldh3a2	A	T	11: 61,139,885 (GRCm39)	F416I	probably damaging	Het
Armc6	A	T	8: 70,678,098 (GRCm39)	L77Q	possibly damaging	Het
Asb17	A	G	3: 153,556,570 (GRCm39)	I226V	probably benign	Het
Aspm	A	G	1: 139,396,406 (GRCm39)	I862V	probably benign	Het
Atr	T	A	9: 95,753,502 (GRCm39)	D701E	probably damaging	Het
Baz1b	C	T	5: 135,247,097 (GRCm39)	L849F	possibly damaging	Het
Cbr1	T	C	16: 93,405,677 (GRCm39)	V97A	probably benign	Het
Cep295	G	A	9: 15,243,306 (GRCm39)	Q1669*	probably null	Het
Cfap54	T	C	10: 92,820,089 (GRCm39)	T1242A	possibly damaging	Het
Chrm3	T	A	13: 9,928,350 (GRCm39)	T229S	possibly damaging	Het
Cimip4	C	A	15: 78,270,474 (GRCm39)	R98M	probably damaging	Het
Cnga3	A	G	1: 37,300,066 (GRCm39)	Y300C	probably damaging	Het
Col14a1	A	C	15: 55,251,975 (GRCm39)	I544L	unknown	Het
Crocc	T	C	4: 140,752,776 (GRCm39)	E1208G	probably damaging	Het
Cyp2j8	A	T	4: 96,358,713 (GRCm39)		probably benign	Het
Dcbld2	T	C	16: 58,285,713 (GRCm39)	I624T	possibly damaging	Het
Ddah1	A	C	3: 145,597,227 (GRCm39)	I258L	probably benign	Het
Dnah6	G	A	6: 73,026,114 (GRCm39)	Q3460*	probably null	Het
Dync2h1	T	A	9: 7,140,911 (GRCm39)	D1372V	probably damaging	Het
Egln1	G	A	8: 125,674,980 (GRCm39)	R272*	probably null	Het
Elf1	A	G	14: 79,804,620 (GRCm39)	D95G	possibly damaging	Het
Fkbp5	A	G	17: 28,621,729 (GRCm39)	F374L	probably damaging	Het
Fli1	T	C	9: 32,372,540 (GRCm39)		probably benign	Het
Gabbr2	T	C	4: 46,846,436 (GRCm39)	T158A	probably damaging	Het
Gp2	A	C	7: 119,049,302 (GRCm39)	Y412D	probably damaging	Het
Hmcn1	A	G	1: 150,610,283 (GRCm39)	V1462A	possibly damaging	Het
Ide	T	C	19: 37,258,160 (GRCm39)		probably null	Het
Kalrn	T	C	16: 34,134,648 (GRCm39)	K372R	possibly damaging	Het
Kcnj16	A	G	11: 110,916,067 (GRCm39)	D243G	possibly damaging	Het
Kif7	A	G	7: 79,363,905 (GRCm39)	M1T	probably null	Het
Klri2	A	T	6: 129,709,174 (GRCm39)	L226Q	probably damaging	Het
Kremen1	T	C	11: 5,165,373 (GRCm39)		probably null	Het
Lama3	T	C	18: 12,646,788 (GRCm39)		probably benign	Het
Lmln	C	A	16: 32,908,581 (GRCm39)	R336S	probably benign	Het
Lrch4	T	A	5: 137,635,818 (GRCm39)	D266E	probably benign	Het
Lrrc28	C	T	7: 67,209,677 (GRCm39)	R174H	probably damaging	Het
Mib1	T	A	18: 10,798,474 (GRCm39)	D778E	probably damaging	Het
Msra	T	C	14: 64,360,775 (GRCm39)	I125V	possibly damaging	Het
Or10c1	A	G	17: 37,522,244 (GRCm39)	F167L	probably damaging	Het
Or4k37	T	A	2: 111,158,964 (GRCm39)	S67T	probably damaging	Het
Or4p19	A	T	2: 88,242,555 (GRCm39)	V149E	possibly damaging	Het
Or52e18	A	G	7: 104,609,747 (GRCm39)	F64S	probably damaging	Het
Or6c75	C	A	10: 129,337,491 (GRCm39)	T246N	probably damaging	Het
Or8d23	A	G	9: 38,841,955 (GRCm39)	M163V	possibly damaging	Het
Pgam2	T	C	11: 5,751,773 (GRCm39)	D221G	possibly damaging	Het
Prl2c5	T	C	13: 13,365,265 (GRCm39)	V137A	possibly damaging	Het
Rasal1	T	A	5: 120,814,914 (GRCm39)	D721E	possibly damaging	Het
Sass6	G	T	3: 116,412,381 (GRCm39)	E385D	possibly damaging	Het
Sema5a	A	G	15: 32,460,418 (GRCm39)	R60G	probably benign	Het
Sesn1	T	C	10: 41,779,762 (GRCm39)	S399P	probably damaging	Het
Skic2	G	A	17: 35,067,398 (GRCm39)	L47F	probably damaging	Het
Slc10a2	C	T	8: 5,141,755 (GRCm39)	V210M	probably damaging	Het
Slc8a3	C	T	12: 81,362,331 (GRCm39)	G163S	probably damaging	Het
Sorbs2	T	C	8: 46,212,234 (GRCm39)		probably benign	Het
Speer4f1	T	C	5: 17,684,490 (GRCm39)	W173R	probably damaging	Het
Spon2	C	A	5: 33,374,108 (GRCm39)	G92W	probably damaging	Het
Sycp2	A	T	2: 178,037,009 (GRCm39)		probably benign	Het
Tfb1m	A	G	17: 3,605,241 (GRCm39)	V84A	probably damaging	Het
Tmem18	G	T	12: 30,637,198 (GRCm39)		probably null	Het
Tom1l1	A	G	11: 90,547,210 (GRCm39)	L290S	possibly damaging	Het
Tube1	T	G	10: 39,021,711 (GRCm39)		probably null	Het
Ugt2b35	T	A	5: 87,155,156 (GRCm39)		probably null	Het
Unc93b1	T	A	19: 3,992,403 (GRCm39)	Y269N	probably benign	Het
Usp16	T	C	16: 87,259,030 (GRCm39)		probably null	Het
Vmn1r38	A	T	6: 66,753,370 (GRCm39)	S249T	probably benign	Het
Vmn1r42	T	A	6: 89,821,733 (GRCm39)	M279L	possibly damaging	Het
Zdhhc23	T	A	16: 43,791,829 (GRCm39)	T315S	possibly damaging	Het
Zfp472	T	C	17: 33,194,900 (GRCm39)	F12L	probably benign	Het
Zfr2	T	C	10: 81,083,225 (GRCm39)	S634P	probably benign	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
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'- GCTGAGGTTTTAACTGCACCAGGAG -3'
(R):5'- AGCCGGGCATTCACACAGTCAAAG -3'

Sequencing Primer
(F):5'- GTTGTTATCCCAGACAGAAGACTC -3'
(R):5'- ACTGGGGCTGTACATAGTACC -3'

Posted On

2014-04-13