Mutagenetix > Incidental Mutation

Incidental Mutation 'R1503:Prpf19'

169501

Institutional Source

Beutler Lab

Gene Symbol

Prpf19

Ensembl Gene

ENSMUSG00000024735

Gene Name

pre-mRNA processing factor 19

Synonyms

D19Wsu55e, PSO4, Snev, Prp19

MMRRC Submission

039553-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1503 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

10872595-10886923 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 10878386 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 291 (F291I)

Ref Sequence

ENSEMBL: ENSMUSP00000136858 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025642] [ENSMUST00000179297]

AlphaFold

Q99KP6

Predicted Effect

probably benign
Transcript: ENSMUST00000025642
AA Change: F272I

PolyPhen 2 Score 0.235 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000025642
Gene: ENSMUSG00000024735
AA Change: F272I

Domain	Start	End	E-Value	Type
Ubox	2	68	3.65e-29	SMART
Pfam:Prp19	94	154	1.5e-25	PFAM
WD40	225	269	4.62e-1	SMART
WD40	272	311	6.32e-11	SMART
WD40	314	353	1.31e-3	SMART
WD40	356	397	2.65e-4	SMART
WD40	400	439	7.79e-11	SMART
WD40	442	482	5.92e1	SMART
WD40	483	522	4.48e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000178868

SMART Domains

Protein: ENSMUSP00000137435
Gene: ENSMUSG00000024735

Domain	Start	End	E-Value	Type
Pfam:Prp19	1	50	7.9e-23	PFAM
WD40	121	165	4.62e-1	SMART
WD40	168	207	6.32e-11	SMART
WD40	210	249	1.31e-3	SMART
WD40	252	293	2.65e-4	SMART
WD40	296	335	7.79e-11	SMART
WD40	338	378	5.92e1	SMART
WD40	379	418	4.48e-2	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000179297
AA Change: F291I

PolyPhen 2 Score 0.648 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000136858
Gene: ENSMUSG00000024735
AA Change: F291I

Domain	Start	End	E-Value	Type
Ubox	2	68	2.43e-25	SMART
Pfam:Prp19	95	153	1.3e-26	PFAM
WD40	225	269	4.62e-1	SMART
WD40	272	311	6.32e-11	SMART
WD40	314	353	1.31e-3	SMART
WD40	356	397	2.65e-4	SMART
WD40	400	439	7.79e-11	SMART
WD40	442	482	5.92e1	SMART
WD40	483	522	4.48e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186416

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187751

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190275

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191092

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191552

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.1%
20x: 92.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] PSO4 is the human homolog of yeast Pso4, a gene essential for cell survival and DNA repair (Beck et al., 2008 [PubMed 18263876]).[supplied by OMIM, Sep 2008]
PHENOTYPE: Mice homozygous for a null allele die prior to implantation and have defective cell proliferation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef6	T	C	X: 56,383,922 (GRCm39)	M5V	probably benign	Het
Atf7ip	G	T	6: 136,583,865 (GRCm39)	V1299L	probably damaging	Het
Atp12a	A	T	14: 56,610,881 (GRCm39)	N342Y	probably damaging	Het
Atp8b5	G	A	4: 43,344,430 (GRCm39)	G439D	probably damaging	Het
Bpifb2	G	A	2: 153,731,430 (GRCm39)	D269N	possibly damaging	Het
Btd	T	G	14: 31,389,612 (GRCm39)	C444W	probably damaging	Het
Cacna1a	A	G	8: 85,328,575 (GRCm39)	D1624G	probably benign	Het
Carmil3	A	C	14: 55,735,737 (GRCm39)	N563T	probably damaging	Het
Cars1	T	C	7: 143,122,726 (GRCm39)	R538G	probably benign	Het
Catsperd	A	G	17: 56,961,525 (GRCm39)	K416E	possibly damaging	Het
Cc2d2a	A	T	5: 43,852,581 (GRCm39)	Y386F	probably damaging	Het
Ccpg1	A	G	9: 72,906,760 (GRCm39)	N66S	probably benign	Het
Cd48	T	A	1: 171,523,415 (GRCm39)	L86H	probably damaging	Het
Cdan1	A	T	2: 120,560,056 (GRCm39)	H369Q	probably damaging	Het
Chil4	T	C	3: 106,113,350 (GRCm39)	D189G	probably benign	Het
Cit	T	A	5: 116,011,959 (GRCm39)	Y189N	possibly damaging	Het
Cntn3	G	A	6: 102,441,526 (GRCm39)	Q7*	probably null	Het
Csn1s2a	A	T	5: 87,923,658 (GRCm39)	I5F	possibly damaging	Het
Ctnnd1	C	T	2: 84,435,523 (GRCm39)		probably null	Het
Dmxl2	A	T	9: 54,354,272 (GRCm39)	Y391*	probably null	Het
Dnah12	T	C	14: 26,495,649 (GRCm39)	S1426P	probably damaging	Het
Dnhd1	T	G	7: 105,342,867 (GRCm39)	S1404A	possibly damaging	Het
Drosha	T	A	15: 12,848,159 (GRCm39)	C484S	probably benign	Het
Dsg4	A	T	18: 20,582,736 (GRCm39)	I125F	probably damaging	Het
Egfr	T	A	11: 16,819,301 (GRCm39)	M277K	possibly damaging	Het
Eml5	G	T	12: 98,797,433 (GRCm39)	L1059I	probably damaging	Het
Erbb4	G	T	1: 68,385,705 (GRCm39)	H295N	probably benign	Het
Etl4	T	G	2: 20,748,685 (GRCm39)	V139G	possibly damaging	Het
Fhip1a	T	A	3: 85,579,784 (GRCm39)	Y807F	possibly damaging	Het
Frem3	A	T	8: 81,413,647 (GRCm39)	E1969D	probably damaging	Het
Gdf3	T	A	6: 122,583,296 (GRCm39)	D357V	probably damaging	Het
Gimap8	T	A	6: 48,624,463 (GRCm39)		probably null	Het
Gml2	C	A	15: 74,693,201 (GRCm39)	S68*	probably null	Het
Gphn	A	G	12: 78,551,403 (GRCm39)	I248V	possibly damaging	Het
Greb1	A	T	12: 16,774,820 (GRCm39)	Y192*	probably null	Het
Hmbs	A	C	9: 44,248,729 (GRCm39)	L215W	probably benign	Het
Iglon5	T	A	7: 43,128,449 (GRCm39)	T123S	probably benign	Het
Ints2	C	T	11: 86,117,607 (GRCm39)	R705H	probably damaging	Het
Ints8	A	T	4: 11,245,842 (GRCm39)	L212Q	probably damaging	Het
Itgad	A	G	7: 127,797,293 (GRCm39)	Y846C	probably benign	Het
Kcnj1	A	G	9: 32,307,788 (GRCm39)	T51A	probably damaging	Het
Kif9	A	T	9: 110,339,506 (GRCm39)	K449N	possibly damaging	Het
Kifbp	A	G	10: 62,395,187 (GRCm39)	V485A	probably damaging	Het
Klk1b11	G	A	7: 43,428,333 (GRCm39)	W241*	probably null	Het
Krt32	T	C	11: 99,974,936 (GRCm39)		probably null	Het
Loxl1	A	G	9: 58,200,923 (GRCm39)	F513S	probably damaging	Het
Mapk8ip3	A	T	17: 25,123,897 (GRCm39)	S571T	probably damaging	Het
Mcam	C	T	9: 44,052,588 (GRCm39)	R606C	probably damaging	Het
Mtss1	T	C	15: 58,823,521 (GRCm39)	N282S	probably damaging	Het
Myh13	T	A	11: 67,244,500 (GRCm39)	D1012E	probably benign	Het
Myo16	A	G	8: 10,552,817 (GRCm39)	T952A	probably benign	Het
Neb	T	C	2: 52,188,632 (GRCm39)	D874G	probably damaging	Het
Nek11	A	G	9: 105,040,403 (GRCm39)	Y553H	probably damaging	Het
Nr2c2	T	A	6: 92,082,312 (GRCm39)	V9D	probably benign	Het
Nxf1	T	A	19: 8,739,800 (GRCm39)	F51L	probably benign	Het
Or1e1f	T	G	11: 73,855,394 (GRCm39)		probably null	Het
Or1j15	A	T	2: 36,458,885 (GRCm39)	I92F	probably damaging	Het
Or2aj5	A	G	16: 19,425,062 (GRCm39)	S119P	probably benign	Het
Or4c35	T	C	2: 89,808,872 (GRCm39)	V250A	probably damaging	Het
Or5bw2	A	G	7: 6,573,470 (GRCm39)	N160S	probably damaging	Het
Or6s1	A	G	14: 51,308,191 (GRCm39)	S220P	probably damaging	Het
Or6z6	T	C	7: 6,491,178 (GRCm39)	I232V	probably damaging	Het
Pcdhb8	A	T	18: 37,489,572 (GRCm39)	N76Y	probably damaging	Het
Pdzrn4	T	A	15: 92,297,685 (GRCm39)	F217I	probably damaging	Het
Ppp1r16a	T	A	15: 76,578,599 (GRCm39)	H434Q	probably benign	Het
R3hdm2	G	T	10: 127,307,695 (GRCm39)	E319*	probably null	Het
Sel1l3	A	G	5: 53,295,271 (GRCm39)	Y777H	probably damaging	Het
Serpinb5	G	A	1: 106,798,019 (GRCm39)	A3T	possibly damaging	Het
Skp2	C	A	15: 9,127,998 (GRCm39)	V88F	probably damaging	Het
Slc25a16	T	C	10: 62,764,155 (GRCm39)	Y71H	probably damaging	Het
Slc6a6	T	A	6: 91,717,973 (GRCm39)	I304N	probably damaging	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Sox17	C	A	1: 4,562,151 (GRCm39)	G222C	probably damaging	Het
Trmu	T	A	15: 85,779,220 (GRCm39)	V289E	possibly damaging	Het
Vdac2	A	G	14: 21,887,945 (GRCm39)	E96G	probably damaging	Het
Wdhd1	A	T	14: 47,484,857 (GRCm39)	D885E	probably benign	Het
Zfp646	A	G	7: 127,479,308 (GRCm39)	N495S	probably damaging	Het
Zfp663	T	C	2: 165,194,573 (GRCm39)	T549A	probably damaging	Het
Zfp935	G	A	13: 62,602,951 (GRCm39)	A83V	possibly damaging	Het

Other mutations in Prpf19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01115:Prpf19	APN	19	10,877,567 (GRCm39)	missense	probably damaging	0.99
IGL01395:Prpf19	APN	19	10,878,375 (GRCm39)	missense	probably damaging	0.98
IGL02111:Prpf19	APN	19	10,882,458 (GRCm39)	missense	probably benign
IGL02163:Prpf19	APN	19	10,879,800 (GRCm39)	missense	probably benign	0.07
IGL02653:Prpf19	APN	19	10,880,328 (GRCm39)	splice site	probably benign
bojan	UTSW	19	10,875,154 (GRCm39)	intron	probably benign
R0179:Prpf19	UTSW	19	10,875,172 (GRCm39)	splice site	probably benign
R1856:Prpf19	UTSW	19	10,879,780 (GRCm39)	missense	probably damaging	0.96
R2229:Prpf19	UTSW	19	10,874,962 (GRCm39)	missense	probably benign	0.02
R4755:Prpf19	UTSW	19	10,875,154 (GRCm39)	intron	probably benign
R4882:Prpf19	UTSW	19	10,876,323 (GRCm39)	intron	probably benign
R4972:Prpf19	UTSW	19	10,876,709 (GRCm39)	intron	probably benign
R5110:Prpf19	UTSW	19	10,876,651 (GRCm39)	splice site	probably benign

Predicted Primers

PCR Primer
(F):5'- GGCCTGACCTGACAGTCAAAATGAG -3'
(R):5'- ACCTGGCAGTCAGACTACATGGAG -3'

Sequencing Primer
(F):5'- CTCTGCATGGATTTAAGGACAG -3'
(R):5'- GGGCCATCTGTACTGTACCTATAAAC -3'

Posted On

2014-04-13