Mutagenetix > Incidental Mutation

Incidental Mutation 'R4882:Prpf19'

375363

Institutional Source

Beutler Lab

Gene Symbol

Prpf19

Ensembl Gene

ENSMUSG00000024735

Gene Name

pre-mRNA processing factor 19

Synonyms

D19Wsu55e, PSO4, Snev, Prp19

MMRRC Submission

042490-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4882 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

10872595-10886923 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 10876323 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000025642 (fasta)

Gene Model

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

AlphaFold

Q99KP6

Predicted Effect

probably benign
Transcript: ENSMUST00000025642

SMART Domains

Protein: ENSMUSP00000025642
Gene: ENSMUSG00000024735

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

unknown
Transcript: ENSMUST00000179297
AA Change: S94P

SMART Domains

Protein: ENSMUSP00000136858
Gene: ENSMUSG00000024735
AA Change: S94P

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

98% (59/60)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap3	A	G	4: 155,990,112 (GRCm39)	D764G	probably damaging	Het
Adgrg6	T	A	10: 14,310,081 (GRCm39)	I775F	possibly damaging	Het
Ahnak	T	A	19: 8,983,261 (GRCm39)	M1515K	probably damaging	Het
Aqp4	A	G	18: 15,531,311 (GRCm39)	V150A	possibly damaging	Het
Axdnd1	A	T	1: 156,223,129 (GRCm39)		probably null	Het
Bap1	C	T	14: 30,973,678 (GRCm39)		probably benign	Het
BB014433	A	G	8: 15,092,016 (GRCm39)	V279A	probably benign	Het
Cacng8	T	C	7: 3,460,669 (GRCm39)	Y151H	probably damaging	Het
Caskin1	T	C	17: 24,723,389 (GRCm39)	S726P	probably damaging	Het
Cd200	T	C	16: 45,217,380 (GRCm39)	T104A	probably benign	Het
Cdk12	C	T	11: 98,101,272 (GRCm39)	R377C	unknown	Het
Ceacam13	A	G	7: 17,746,997 (GRCm39)	H150R	probably benign	Het
Cebpzos	T	C	17: 79,227,220 (GRCm39)	Y65H	probably benign	Het
Cgnl1	T	A	9: 71,624,683 (GRCm39)	M630L	probably benign	Het
Dop1b	G	T	16: 93,549,802 (GRCm39)	R247L	possibly damaging	Het
Dqx1	A	G	6: 83,043,069 (GRCm39)		probably null	Het
Etaa1	T	C	11: 17,896,174 (GRCm39)	S648G	probably benign	Het
Flnb	A	G	14: 7,929,936 (GRCm38)	D2022G	possibly damaging	Het
Gpr158	T	A	2: 21,830,059 (GRCm39)	N701K	probably damaging	Het
H2-Eb2	C	T	17: 34,553,230 (GRCm39)	H139Y	probably benign	Het
Hbb-bh2	A	T	7: 103,488,455 (GRCm39)	V114E	probably damaging	Het
Ifna9	T	A	4: 88,510,540 (GRCm39)	Q28L	probably benign	Het
Inca1	T	C	11: 70,579,566 (GRCm39)	T188A	probably benign	Het
Irf9	G	T	14: 55,846,496 (GRCm39)		probably benign	Het
Kdm1b	T	A	13: 47,214,369 (GRCm39)	H238Q	probably benign	Het
Lpin1	G	C	12: 16,588,537 (GRCm39)	F851L	probably damaging	Het
Map3k9	C	T	12: 81,770,936 (GRCm39)	R884Q	probably damaging	Het
Mcm3ap	C	T	10: 76,320,495 (GRCm39)	Q818*	probably null	Het
Mcm7	A	T	5: 138,164,173 (GRCm39)		probably null	Het
Npdc1	G	A	2: 25,298,957 (GRCm39)	D284N	probably damaging	Het
Nppa	G	T	4: 148,085,544 (GRCm39)	M50I	probably benign	Het
Opcml	G	A	9: 28,812,886 (GRCm39)	E193K	probably damaging	Het
Phf14	T	A	6: 11,988,756 (GRCm39)	N665K	possibly damaging	Het
Plekhh3	G	A	11: 101,056,009 (GRCm39)	A47V	probably damaging	Het
Plekhh3	T	A	11: 101,058,764 (GRCm39)	E156V	probably null	Het
Rev3l	T	A	10: 39,697,456 (GRCm39)	V651E	possibly damaging	Het
Sgpl1	T	C	10: 60,948,044 (GRCm39)	N171S	probably damaging	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Slx4	T	C	16: 3,798,860 (GRCm39)		probably null	Het
Smchd1	T	A	17: 71,665,234 (GRCm39)		probably benign	Het
Snca	A	G	6: 60,792,719 (GRCm39)	V63A	probably benign	Het
Taok3	A	T	5: 117,390,695 (GRCm39)	Q92L	probably damaging	Het
Uhrf1	T	C	17: 56,616,401 (GRCm39)	V73A	probably damaging	Het
Usp38	G	A	8: 81,708,606 (GRCm39)	Q991*	probably null	Het
Vmn2r96	T	A	17: 18,817,866 (GRCm39)	V673E	probably damaging	Het
Zan	A	G	5: 137,436,710 (GRCm39)	Y2048H	unknown	Het
Zfp759	T	A	13: 67,287,354 (GRCm39)	Y302N	probably 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
R1503:Prpf19	UTSW	19	10,878,386 (GRCm39)	missense	possibly damaging	0.65
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
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'- GGAGCTATCCCACTCTGTGTTTG -3'
(R):5'- ACATTACAAAGCAGGGCCAG -3'

Sequencing Primer
(F):5'- CCACTCTGTGTTTGTCCAGAGTATAG -3'
(R):5'- GCAGGGAATACAAGAGACCTTCTC -3'

Posted On

2016-03-17