Mutagenetix > Incidental Mutation

Incidental Mutation 'R7315:Pes1'

567897

Institutional Source

Beutler Lab

Gene Symbol

Pes1

Ensembl Gene

ENSMUSG00000020430

Gene Name

pescadillo ribosomal biogenesis factor 1

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7315 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

3963975-3980004 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3976085 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 291 (I291M)

Ref Sequence

ENSEMBL: ENSMUSP00000020705 (fasta)

Gene Model

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

AlphaFold

Q9EQ61

Predicted Effect

probably benign
Transcript: ENSMUST00000020705
AA Change: I291M

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000020705
Gene: ENSMUSG00000020430
AA Change: I291M

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
AA Change: I295M

PolyPhen 2 Score 0.398 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000105612
Gene: ENSMUSG00000020430
AA Change: I295M

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	C	7: 120,294,118	I1264L	probably benign	Het
Abcg8	C	A	17: 84,696,714	D484E	probably damaging	Het
Abhd13	T	A	8: 9,987,970	L189H	probably damaging	Het
Acox2	T	C	14: 8,256,139	D60G	probably damaging	Het
Acpp	A	G	9: 104,316,224		probably null	Het
Agpat4	C	T	17: 12,210,298	R146C	probably damaging	Het
Antxrl	T	C	14: 34,071,547	S411P	unknown	Het
B4galt5	A	G	2: 167,301,376	V376A	probably damaging	Het
BB287469	A	G	12: 87,819,703	E128G	unknown	Het
Camk1d	T	C	2: 5,339,230	Y198C	probably damaging	Het
Cd1d1	C	T	3: 86,998,113	R191H	possibly damaging	Het
Cd93	A	G	2: 148,442,541	V295A	probably damaging	Het
Cdc27	G	A	11: 104,515,444	T615I	possibly damaging	Het
Cfap74	T	C	4: 155,463,019	Y1221H	unknown	Het
Col24a1	G	A	3: 145,431,870	S896N	possibly damaging	Het
Cst7	C	A	2: 150,570,583	P22Q	probably benign	Het
Dnah6	C	T	6: 73,084,760	A2781T	probably damaging	Het
Dscaml1	G	A	9: 45,745,125	A1588T	probably benign	Het
Dsg2	A	T	18: 20,579,160	I118F	probably damaging	Het
Eme2	G	A	17: 24,894,866	R62W	probably damaging	Het
Epha3	A	T	16: 63,552,609	D910E	probably benign	Het
Ext1	T	C	15: 53,073,387	D654G	probably damaging	Het
Fam46b	C	T	4: 133,487,084	T422I	probably damaging	Het
Fnip2	A	G	3: 79,506,205		probably null	Het
Gon4l	T	A	3: 88,895,179	H1032Q	probably benign	Het
Ispd	A	G	12: 36,390,374	T94A	probably benign	Het
Kitl	G	A	10: 100,016,112	R31H	unknown	Het
Lcp2	G	A	11: 34,069,906		probably null	Het
Lrp2	T	C	2: 69,491,822	H1921R	probably damaging	Het
Lvrn	A	G	18: 46,876,984	T400A	probably benign	Het
Mak16	G	A	8: 31,164,738	R143*	probably null	Het
Mettl23	A	G	11: 116,849,102	I159V	probably benign	Het
Mr1	T	C	1: 155,129,290	N335D	probably benign	Het
Muc2	T	C	7: 141,690,402	C12R	probably damaging	Het
Myom1	T	C	17: 71,080,897		probably null	Het
Nav2	A	G	7: 49,548,289	N33S	possibly damaging	Het
Ninl	A	G	2: 150,950,050	V851A	probably benign	Het
Nmt1	A	G	11: 103,060,183	N367D	probably benign	Het
Noc2l	T	G	4: 156,241,360	S354R	probably damaging	Het
Olfr104-ps	G	T	17: 37,362,660	C181F	probably damaging	Het
Olfr1302	T	C	2: 111,780,659	V113A	probably damaging	Het
Olfr151	T	C	9: 37,730,576	M136V	probably benign	Het
Olfr198	A	G	16: 59,202,133	F98L	probably benign	Het
Olfr293	T	C	7: 86,664,237	S192P	probably damaging	Het
Olfr70	T	A	4: 43,696,961	I71F	probably damaging	Het
Olfr860	G	T	9: 19,845,835	S261R	probably damaging	Het
Olfr877	A	T	9: 37,855,247	Y143F	probably benign	Het
Opn1sw	A	T	6: 29,379,363	I214N	probably damaging	Het
Papss2	T	C	19: 32,639,225	V217A	possibly damaging	Het
Pqlc2	G	A	4: 139,301,870	T101M	probably damaging	Het
Ptprb	T	A	10: 116,362,379	I1660N	possibly damaging	Het
Rapgef1	C	A	2: 29,734,492	T1030K	probably damaging	Het
Rassf8	A	G	6: 145,815,751	M268V	probably benign	Het
Rbl2	A	T	8: 91,076,012	T154S	probably damaging	Het
Rgs1	A	G	1: 144,248,899		probably null	Het
Rpgrip1	C	T	14: 52,121,001	T188I	not run	Het
Rrp1b	T	A	17: 32,058,571	F608L	probably benign	Het
Sbp	C	T	17: 23,945,306	A154V	probably benign	Het
Scara3	C	T	14: 65,931,440	E243K	probably damaging	Het
Serpinb6b	A	T	13: 32,972,257	D110V	probably benign	Het
Skiv2l	T	A	17: 34,841,169	D875V	probably benign	Het
Slc2a4	G	C	11: 69,946,433	T59R	probably damaging	Het
Slc4a1	A	G	11: 102,356,484	S462P	probably damaging	Het
Snx33	C	T	9: 56,925,867	R306H	probably damaging	Het
Srf	T	C	17: 46,551,794		probably null	Het
Steap3	A	G	1: 120,227,912	V439A	probably benign	Het
Syt10	C	T	15: 89,814,338	D268N	probably damaging	Het
Terf2	T	C	8: 107,081,217	N242S	probably benign	Het
Tex15	A	G	8: 33,581,516	T2364A	probably benign	Het
Tgfbr2	A	T	9: 116,109,738	H365Q	possibly damaging	Het
Tnrc6c	T	G	11: 117,723,528	N837K	probably benign	Het
Trim67	T	A	8: 124,794,330	S144T	probably benign	Het
Zc3hav1l	T	G	6: 38,295,147	D229A	possibly damaging	Het
Zmym4	A	T	4: 126,882,592	V1184E	probably benign	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
R1929:Pes1	UTSW	11	3969524	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
R8178:Pes1	UTSW	11	3977718	missense	probably benign
R9599:Pes1	UTSW	11	3976118	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGGGTTGTTGTAAGACTTACCC -3'
(R):5'- TGTCACCTCCTGCAGAGAAG -3'

Sequencing Primer
(F):5'- GTTGTAAGACTTACCCTTAGAACCC -3'
(R):5'- GAAGGGGCCAAGCTTCACAC -3'

Posted On

2019-06-26