Mutagenetix > Incidental Mutation

Incidental Mutation 'R2869:Pes1'

266453

Institutional Source

Beutler Lab

Gene Symbol

Pes1

Ensembl Gene

ENSMUSG00000020430

Gene Name

pescadillo ribosomal biogenesis factor 1

Synonyms

MMRRC Submission

040457-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2869 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

3913975-3930004 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 3926834 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 372 (T372K)

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: T368K

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000020705
Gene: ENSMUSG00000020430
AA Change: T368K

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: T372K

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000105612
Gene: ENSMUSG00000020430
AA Change: T372K

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

0.0986

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.7%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Als2	A	G	1: 59,250,296 (GRCm39)	S483P	probably damaging	Het
C030034I22Rik	T	A	17: 69,725,106 (GRCm39)		noncoding transcript	Het
Carmil1	G	A	13: 24,229,051 (GRCm39)		silent	Het
Ccl27a	C	T	4: 41,769,640 (GRCm39)	R73Q	probably benign	Het
Cd6	A	G	19: 10,771,990 (GRCm39)	I307T	possibly damaging	Het
Dennd2b	A	T	7: 109,156,637 (GRCm39)	Y38N	probably benign	Het
Dhx57	A	T	17: 80,558,805 (GRCm39)	D1051E	probably benign	Het
Eif4enif1	C	T	11: 3,192,586 (GRCm39)	P805S	probably damaging	Het
Fan1	A	G	7: 64,012,938 (GRCm39)	I668T	probably benign	Het
Frmpd4	A	T	X: 166,260,243 (GRCm39)	D1166E	probably benign	Homo
Gbp11	C	T	5: 105,478,866 (GRCm39)	D191N	probably benign	Het
Ggt6	A	T	11: 72,328,187 (GRCm39)	N229I	probably benign	Het
Gm26902	T	A	19: 34,452,210 (GRCm39)	H106L	probably benign	Het
Gm37340	G	A	2: 6,955,739 (GRCm39)		probably benign	Het
Gm9874	A	T	17: 30,704,763 (GRCm39)		probably benign	Het
Gria2	G	A	3: 80,609,799 (GRCm39)	T670I	probably damaging	Het
Gsdme	A	T	6: 50,185,157 (GRCm39)	C432*	probably null	Het
Habp2	T	A	19: 56,276,423 (GRCm39)		probably benign	Het
Hmcn1	A	T	1: 150,614,467 (GRCm39)	V1313D	possibly damaging	Het
Kcnb1	A	G	2: 166,947,855 (GRCm39)	L331P	probably damaging	Het
Klf8	A	T	X: 152,165,678 (GRCm39)	E82D	probably damaging	Homo
Krt13	A	G	11: 100,008,475 (GRCm39)	S421P	unknown	Het
Lactbl1	G	A	4: 136,354,097 (GRCm39)	C37Y	probably damaging	Het
Lzts2	C	A	19: 45,012,534 (GRCm39)	S321*	probably null	Het
Marchf8	C	T	6: 116,378,106 (GRCm39)		probably benign	Het
Meikin	T	C	11: 54,264,333 (GRCm39)	V103A	possibly damaging	Het
Mki67	G	A	7: 135,309,878 (GRCm39)	P191L	probably benign	Het
Mlxip	A	G	5: 123,590,730 (GRCm39)	M878V	probably benign	Het
Mpp7	G	A	18: 7,461,678 (GRCm39)	P65L	possibly damaging	Het
Myo9b	G	A	8: 71,786,981 (GRCm39)	R721Q	probably benign	Het
Nav1	A	G	1: 135,388,495 (GRCm39)		silent	Het
Nbn	T	A	4: 15,963,810 (GRCm39)	D70E	probably damaging	Het
Nell1	A	T	7: 49,899,405 (GRCm39)		probably benign	Het
Nomo1	C	A	7: 45,696,361 (GRCm39)	T293N	probably damaging	Het
Notum	A	G	11: 120,551,022 (GRCm39)	V48A	probably benign	Het
Nwd2	A	T	5: 63,957,671 (GRCm39)	I334L	probably benign	Het
Or10z1	T	C	1: 174,078,092 (GRCm39)	S134G	probably benign	Het
Or4k2	T	C	14: 50,423,811 (GRCm39)	T288A	probably benign	Het
Or6c211	A	T	10: 129,505,628 (GRCm39)	C253*	probably null	Het
Ostc	T	C	3: 130,497,157 (GRCm39)	N80S	probably damaging	Het
Otud4	T	A	8: 80,387,702 (GRCm39)	N300K	possibly damaging	Het
Palmd	T	C	3: 116,717,400 (GRCm39)	R366G	possibly damaging	Het
Parp1	A	G	1: 180,401,230 (GRCm39)	D45G	probably damaging	Het
Plcl1	A	T	1: 55,736,309 (GRCm39)	D550V	probably benign	Het
Ppp1r7	T	A	1: 93,285,585 (GRCm39)		probably null	Het
Prdx4	A	G	X: 154,123,460 (GRCm39)	V15A	probably benign	Homo
Psmb8	T	C	17: 34,419,144 (GRCm39)	I146T	probably damaging	Het
Psmd13	A	T	7: 140,466,968 (GRCm39)	T116S	probably damaging	Het
Pzp	A	T	6: 128,462,519 (GRCm39)		probably null	Het
Serinc2	A	G	4: 130,159,005 (GRCm39)	S29P	probably damaging	Het
Slc39a8	T	A	3: 135,592,554 (GRCm39)		probably null	Het
Sppl2c	C	T	11: 104,078,141 (GRCm39)	P314S	probably benign	Het
St7	C	T	6: 17,819,276 (GRCm39)	P60L	probably damaging	Het
Stx3	A	T	19: 11,766,938 (GRCm39)	V91D	probably damaging	Het
Taf6l	A	G	19: 8,755,992 (GRCm39)		probably benign	Het
Tafa2	A	T	10: 123,540,270 (GRCm39)	H42L	possibly damaging	Het
Tnni3k	C	T	3: 154,644,387 (GRCm39)		probably null	Het
Tprg1	T	C	16: 25,231,590 (GRCm39)	W189R	probably damaging	Het
Trim32	A	G	4: 65,532,694 (GRCm39)	D417G	probably damaging	Het
Vmn2r68	A	C	7: 84,882,834 (GRCm39)	M306R	probably benign	Het
Vwa7	G	A	17: 35,240,218 (GRCm39)	M395I	probably damaging	Het
Ybx3	G	A	6: 131,347,376 (GRCm39)	A253V	probably damaging	Het
Zfp53	A	T	17: 21,728,340 (GRCm39)	E124D	probably benign	Het
Zzz3	T	A	3: 152,152,481 (GRCm39)		silent	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
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'- CAGGAGTGTAGTTGTTATCCCAG -3'
(R):5'- ACATAGTACCTGGTGCAGAGC -3'

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

Posted On

2015-02-18