Mutagenetix > Incidental Mutation

Incidental Mutation 'R1885:Pes1'

209463

Institutional Source

Beutler Lab

Gene Symbol

Pes1

Ensembl Gene

ENSMUSG00000020430

Gene Name

pescadillo ribosomal biogenesis factor 1

Synonyms

MMRRC Submission

039906-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1885 (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 3919482 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 52 (K52E)

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: K52E

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

SMART Domains

Protein: ENSMUSP00000020705
Gene: ENSMUSG00000020430
AA Change: K52E

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: K52E

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

SMART Domains

Protein: ENSMUSP00000105612
Gene: ENSMUSG00000020430
AA Change: K52E

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: 97.0%
3x: 96.1%
10x: 92.7%
20x: 85.1%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700102P08Rik	T	A	9: 108,270,809 (GRCm39)	D124E	possibly damaging	Het
Aarsd1	T	C	11: 101,302,227 (GRCm39)	T278A	probably benign	Het
Acox2	C	T	14: 8,248,102 (GRCm38)	M393I	probably benign	Het
Adcy10	A	G	1: 165,398,377 (GRCm39)	I1491M	probably benign	Het
Adcy3	T	A	12: 4,184,951 (GRCm39)	V209E	probably damaging	Het
Adora3	A	C	3: 105,812,152 (GRCm39)	N13H	possibly damaging	Het
Ap2b1	T	A	11: 83,281,561 (GRCm39)	N822K	probably damaging	Het
Apobec3	A	T	15: 79,781,906 (GRCm39)	H82L	probably damaging	Het
Atg9b	A	T	5: 24,593,252 (GRCm39)	W384R	probably damaging	Het
Atp8a1	A	G	5: 67,904,661 (GRCm39)	V506A	possibly damaging	Het
Atxn1	G	T	13: 45,721,280 (GRCm39)	A205D	probably benign	Het
B4galnt3	T	C	6: 120,200,601 (GRCm39)	E223G	probably damaging	Het
Brip1	C	A	11: 86,029,641 (GRCm39)	G631V	probably damaging	Het
Cacna1i	A	G	15: 80,243,145 (GRCm39)	E434G	probably damaging	Het
Caprin2	A	T	6: 148,779,383 (GRCm39)		probably null	Het
Cblif	G	A	19: 11,729,688 (GRCm39)	A216T	probably benign	Het
Ccdc80	A	C	16: 44,917,083 (GRCm39)	D613A	probably benign	Het
Ccdc81	T	C	7: 89,515,819 (GRCm39)	E620G	possibly damaging	Het
Cdhr18	A	C	14: 13,828,607 (GRCm38)	Y718D	probably damaging	Het
Cebpz	A	T	17: 79,239,545 (GRCm39)	D625E	probably benign	Het
Coq6	C	A	12: 84,419,238 (GRCm39)	N388K	probably damaging	Het
Cracd	A	G	5: 77,004,589 (GRCm39)	T317A	unknown	Het
D430041D05Rik	T	C	2: 104,060,800 (GRCm39)	M1365V	probably benign	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dap3	A	G	3: 88,838,281 (GRCm39)	L86P	probably damaging	Het
Dpysl4	T	G	7: 138,676,723 (GRCm39)	V391G	probably damaging	Het
Dyrk4	G	T	6: 126,854,144 (GRCm39)	Q550K	probably benign	Het
Epas1	A	G	17: 87,112,723 (GRCm39)	D107G	probably damaging	Het
Esrp2	A	G	8: 106,858,453 (GRCm39)	V636A	possibly damaging	Het
Etl4	T	A	2: 20,748,795 (GRCm39)	Y176N	probably damaging	Het
Etnppl	T	C	3: 130,423,111 (GRCm39)	V264A	probably benign	Het
Ezhip	GTCATCATCATCATC	GTCATCATCATCATCATC	X: 5,994,645 (GRCm39)		probably benign	Het
Fer	T	A	17: 64,445,909 (GRCm39)	V790D	probably damaging	Het
Gdpd5	G	A	7: 99,109,204 (GRCm39)	V575I	probably benign	Het
Gfus	G	T	15: 75,798,838 (GRCm39)	T123N	possibly damaging	Het
Gipc3	T	C	10: 81,177,181 (GRCm39)	I130V	probably benign	Het
Iqsec3	G	A	6: 121,405,326 (GRCm39)		probably benign	Het
Kdm5d	G	T	Y: 940,781 (GRCm39)		probably null	Het
Kl	A	G	5: 150,876,959 (GRCm39)	R260G	possibly damaging	Het
Kras	T	C	6: 145,177,843 (GRCm39)	E143G	probably damaging	Het
Ksr1	T	C	11: 78,927,347 (GRCm39)	T329A	probably damaging	Het
Ksr1	C	A	11: 78,911,204 (GRCm39)	V11F	probably null	Het
Marchf6	A	G	15: 31,502,952 (GRCm39)	V83A	probably benign	Het
Mettl2	T	C	11: 105,022,446 (GRCm39)	I212T	possibly damaging	Het
Mgat3	A	G	15: 80,095,820 (GRCm39)	I216V	probably benign	Het
Mkrn3	G	A	7: 62,068,486 (GRCm39)	A435V	probably benign	Het
Mlh1	C	A	9: 111,087,624 (GRCm39)	S24I	probably benign	Het
Mmel1	G	A	4: 154,975,333 (GRCm39)	R424Q	possibly damaging	Het
Mob3a	G	A	10: 80,527,068 (GRCm39)	Q86*	probably null	Het
Myh3	A	G	11: 66,977,453 (GRCm39)	K368E	probably benign	Het
Myo16	T	A	8: 10,372,656 (GRCm39)	N118K	probably damaging	Het
Myo5c	A	G	9: 75,157,043 (GRCm39)	S160G	probably damaging	Het
Nat1	A	T	8: 67,943,653 (GRCm39)	I13F	probably damaging	Het
Ncoa7	T	C	10: 30,524,448 (GRCm39)	N823S	possibly damaging	Het
Nwd1	T	C	8: 73,431,622 (GRCm39)	S1207P	probably benign	Het
Or2y17	T	C	11: 49,231,662 (GRCm39)	L101P	probably damaging	Het
Or4k49	G	T	2: 111,495,099 (GRCm39)	S176I	probably damaging	Het
Or5p57	T	C	7: 107,665,985 (GRCm39)	N7D	probably benign	Het
Or5w22	T	C	2: 87,363,168 (GRCm39)	S264P	probably damaging	Het
Paqr8	A	T	1: 21,005,704 (GRCm39)	H286L	probably damaging	Het
Pdzd4	G	A	X: 72,839,052 (GRCm39)	R419C	probably damaging	Het
Ppp1r13l	T	C	7: 19,111,496 (GRCm39)	S774P	probably damaging	Het
Robo2	T	C	16: 73,713,033 (GRCm39)	D1283G	probably benign	Het
Rp1l1	T	C	14: 64,265,839 (GRCm39)	V475A	probably benign	Het
Scml4	A	G	10: 42,788,223 (GRCm39)	Y51C	probably damaging	Het
Skic3	A	T	13: 76,261,166 (GRCm39)	R112S	probably benign	Het
Skic3	A	G	13: 76,278,354 (GRCm39)	Q556R	probably benign	Het
Slc2a4	C	T	11: 69,835,833 (GRCm39)	V339I	probably benign	Het
Slc39a6	G	A	18: 24,734,539 (GRCm39)		probably null	Het
Slco1b2	A	T	6: 141,628,951 (GRCm39)	Y551F	probably damaging	Het
Snx33	T	C	9: 56,833,121 (GRCm39)	H316R	probably benign	Het
Spata31d1a	T	G	13: 59,849,821 (GRCm39)	D769A	probably damaging	Het
Stmn2	A	T	3: 8,606,964 (GRCm39)	E28V	probably damaging	Het
Syt9	A	G	7: 107,035,736 (GRCm39)	D251G	probably damaging	Het
Tjap1	T	C	17: 46,573,347 (GRCm39)	T37A	probably damaging	Het
Tmc7	A	T	7: 118,160,310 (GRCm39)	F176I	possibly damaging	Het
Tprg1	A	G	16: 25,231,641 (GRCm39)	T206A	probably benign	Het
Ubqlnl	A	T	7: 103,799,272 (GRCm39)	M75K	possibly damaging	Het
Vmn2r115	ATCTTCT	ATCT	17: 23,578,962 (GRCm39)		probably benign	Het
Vmn2r12	C	T	5: 109,239,942 (GRCm39)	G207E	probably damaging	Het
Xrn2	T	G	2: 146,891,281 (GRCm39)	L697*	probably null	Het
Zfp764	A	G	7: 127,004,211 (GRCm39)	F307L	probably benign	Het
Zfp804b	T	C	5: 6,820,376 (GRCm39)	R860G	probably damaging	Het
Zranb2	A	T	3: 157,248,793 (GRCm39)		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
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'- GGACTTGAGATCATCAGACAAACC -3'
(R):5'- GGTCCCATGCAAAGGATGTG -3'

Sequencing Primer
(F):5'- TTGAGATCATCAGACAAACCCACTTG -3'
(R):5'- TGAACCTGAATGACCCTCAGTGTG -3'

Posted On

2014-06-30