Mutagenetix > Incidental Mutation

Incidental Mutation 'R6456:Prpf4'

520153

Institutional Source

Beutler Lab

Gene Symbol

Prpf4

Ensembl Gene

ENSMUSG00000066148

Gene Name

pre-mRNA processing factor 4

Synonyms

1600015H11Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.951) question?

Stock #

R6456 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

62327034-62345227 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 62332869 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000081572 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084524]

AlphaFold

Q9DAW6

Predicted Effect

probably null
Transcript: ENSMUST00000084524

SMART Domains

Protein: ENSMUSP00000081572
Gene: ENSMUSG00000066148

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
SFM	102	154	8.92e-25	SMART
WD40	219	258	1.14e-3	SMART
WD40	261	308	1.75e-4	SMART
WD40	311	350	5.18e-7	SMART
WD40	353	392	8.04e-4	SMART
WD40	395	434	2.57e-11	SMART
WD40	437	477	2.93e-6	SMART
WD40	480	519	1.74e-8	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.4%
20x: 91.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is part of a heteromeric complex that binds U4, U5, and U6 small nuclear RNAs and is involved in pre-mRNA splicing. The encoded protein also is a mitotic checkpoint protein and a regulator of chemoresistance in human ovarian cancer. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2016]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,240,474 (GRCm39)	H779L	possibly damaging	Het
Abca7	T	C	10: 79,850,984 (GRCm39)	V2097A	probably null	Het
Adam8	A	G	7: 139,566,701 (GRCm39)	S524P	possibly damaging	Het
Anapc2	T	C	2: 25,170,207 (GRCm39)	M575T	probably damaging	Het
Arhgap42	T	A	9: 9,005,823 (GRCm39)	I736L	probably benign	Het
AU040320	A	G	4: 126,736,284 (GRCm39)	N789S	probably benign	Het
Bmi1	A	G	2: 18,687,058 (GRCm39)	Y46C	probably damaging	Het
Brd10	G	A	19: 29,693,914 (GRCm39)	P1860S	possibly damaging	Het
Ccdc125	T	C	13: 100,832,817 (GRCm39)	S465P	possibly damaging	Het
Cd180	C	T	13: 102,839,344 (GRCm39)	L76F	probably damaging	Het
Cep135	T	C	5: 76,739,571 (GRCm39)		probably benign	Het
Col6a5	G	A	9: 105,822,676 (GRCm39)	T227I	unknown	Het
Cyp4a29	G	T	4: 115,108,381 (GRCm39)	M368I	probably benign	Het
Ddx28	T	A	8: 106,737,000 (GRCm39)	I353F	possibly damaging	Het
Dhx40	G	A	11: 86,675,800 (GRCm39)	T198M	probably damaging	Het
Dnai4	A	C	4: 102,906,746 (GRCm39)	M689R	probably benign	Het
Dync2i2	T	C	2: 29,922,779 (GRCm39)	S323G	probably benign	Het
Fat4	G	A	3: 39,038,128 (GRCm39)	V3927M	possibly damaging	Het
Garin1b	A	G	6: 29,334,045 (GRCm39)	N299S	probably benign	Het
Gm10226	G	T	17: 21,910,932 (GRCm39)	G56*	probably null	Het
H2-T15	A	T	17: 36,367,502 (GRCm39)	Y279N	probably damaging	Het
Itsn2	T	G	12: 4,679,923 (GRCm39)		probably benign	Het
Lrrc8a	A	G	2: 30,145,486 (GRCm39)	D100G	probably benign	Het
Madd	T	C	2: 91,008,536 (GRCm39)	H122R	probably benign	Het
Mfsd4b3-ps	C	G	10: 39,823,316 (GRCm39)	V315L	probably benign	Het
Mki67	C	G	7: 135,301,204 (GRCm39)	A1277P	possibly damaging	Het
Nlrp9b	T	A	7: 19,782,703 (GRCm39)	N872K	probably damaging	Het
Npas1	T	C	7: 16,195,851 (GRCm39)	T274A	probably benign	Het
Nrm	A	T	17: 36,176,292 (GRCm39)		probably null	Het
Or10j2	A	T	1: 173,098,105 (GRCm39)	D121V	probably damaging	Het
Pdilt	T	A	7: 119,099,706 (GRCm39)	L187F	probably damaging	Het
Pkdcc	T	C	17: 83,527,548 (GRCm39)	I242T	probably damaging	Het
Plch2	C	A	4: 155,077,459 (GRCm39)	D535Y	probably damaging	Het
Pmpca	T	A	2: 26,285,179 (GRCm39)	I468N	probably damaging	Het
Rcc1	A	G	4: 132,061,427 (GRCm39)	S361P	probably benign	Het
Rigi	T	A	4: 40,213,838 (GRCm39)	N607Y	possibly damaging	Het
Rnf213	A	G	11: 119,350,792 (GRCm39)	I3876V	probably benign	Het
Sall2	T	A	14: 52,551,050 (GRCm39)	Q715L	probably damaging	Het
Sall2	G	A	14: 52,551,051 (GRCm39)	Q713*	probably null	Het
Sin3a	A	G	9: 57,020,985 (GRCm39)	S1004G	possibly damaging	Het
Sltm	C	T	9: 70,450,269 (GRCm39)	T23M	probably damaging	Het
Spata31e2	T	A	1: 26,724,250 (GRCm39)	H310L	probably damaging	Het
Sspo	A	G	6: 48,428,740 (GRCm39)	E385G	probably benign	Het
Syne3	G	T	12: 104,906,963 (GRCm39)	R775S	possibly damaging	Het
Szt2	A	T	4: 118,233,894 (GRCm39)		probably benign	Het
Tlk2	T	C	11: 105,112,099 (GRCm39)	S151P	probably benign	Het
Trabd2b	C	T	4: 114,443,757 (GRCm39)	R305C	probably damaging	Het
Ttc21b	T	C	2: 66,018,675 (GRCm39)	Q1244R	probably damaging	Het
Vmn2r125	A	G	4: 156,703,357 (GRCm39)	N245S	probably benign	Het
Wdr64	G	A	1: 175,613,175 (GRCm39)		probably null	Het
Wdr70	G	A	15: 7,915,118 (GRCm39)	T550M	possibly damaging	Het

Other mutations in Prpf4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02305:Prpf4	APN	4	62,333,633 (GRCm39)	splice site	probably benign
IGL03158:Prpf4	APN	4	62,334,256 (GRCm39)	missense	probably benign
R0389:Prpf4	UTSW	4	62,340,842 (GRCm39)	missense	probably damaging	1.00
R0718:Prpf4	UTSW	4	62,332,777 (GRCm39)	splice site	probably benign
R2183:Prpf4	UTSW	4	62,330,046 (GRCm39)	missense	probably damaging	0.98
R5566:Prpf4	UTSW	4	62,334,206 (GRCm39)	missense	probably benign	0.36
R6629:Prpf4	UTSW	4	62,336,097 (GRCm39)	missense	possibly damaging	0.91
R7491:Prpf4	UTSW	4	62,336,113 (GRCm39)	missense	probably damaging	1.00
R8199:Prpf4	UTSW	4	62,340,866 (GRCm39)	missense	probably damaging	1.00
R8278:Prpf4	UTSW	4	62,333,493 (GRCm39)	critical splice donor site	probably null
R8855:Prpf4	UTSW	4	62,334,235 (GRCm39)	missense	probably benign	0.01
R9374:Prpf4	UTSW	4	62,336,131 (GRCm39)	missense	probably benign	0.00
R9659:Prpf4	UTSW	4	62,334,296 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- GTGGCTAAGGTTCATTGTTCCC -3'
(R):5'- TTGCTGAGTCACACCAAGAG -3'

Sequencing Primer
(F):5'- AGCTTTTAGGGATCTCGACATATCTC -3'
(R):5'- AGAGTGCATAGCTCCTTCCTGAATG -3'

Posted On

2018-06-06