Mutagenetix > Incidental Mutation

Incidental Mutation 'R8278:Prpf4'

638057

Institutional Source

Beutler Lab

Gene Symbol

Prpf4

Ensembl Gene

ENSMUSG00000066148

Gene Name

pre-mRNA processing factor 4

Synonyms

1600015H11Rik

MMRRC Submission

067701-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.951) question?

Stock #

R8278 (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 62333493 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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	A	T	16: 4,668,040 (GRCm39)	Q477L	probably benign	Het
Adcy10	A	T	1: 165,330,857 (GRCm39)	D40V	probably damaging	Het
Cab39l	T	C	14: 59,776,562 (GRCm39)	Y248H	probably damaging	Het
Casr	G	T	16: 36,336,011 (GRCm39)	D99E	probably damaging	Het
Cdh16	T	C	8: 105,345,107 (GRCm39)	E364G	probably benign	Het
Cep104	C	T	4: 154,068,122 (GRCm39)	T189I	possibly damaging	Het
Cfap418	T	A	4: 10,882,474 (GRCm39)		probably null	Het
Chd7	T	A	4: 8,862,485 (GRCm39)		probably null	Het
Chit1	G	A	1: 134,078,332 (GRCm39)	R380Q	probably benign	Het
Cpne2	A	G	8: 95,281,316 (GRCm39)	K174R	probably damaging	Het
Dchs2	T	A	3: 83,178,310 (GRCm39)	I1121N	probably damaging	Het
Fgf6	A	T	6: 126,992,781 (GRCm39)	Y78F	probably damaging	Het
H2-T10	A	T	17: 36,429,832 (GRCm39)	N320K	probably benign	Het
Heatr3	A	T	8: 88,883,361 (GRCm39)	N398I	possibly damaging	Het
Hrh4	T	C	18: 13,140,284 (GRCm39)	S60P	probably damaging	Het
Ikbip	A	G	10: 90,932,190 (GRCm39)	H278R	probably benign	Het
Jmy	A	T	13: 93,601,224 (GRCm39)	I394N	probably damaging	Het
Klhl8	T	C	5: 104,022,107 (GRCm39)	E314G	probably benign	Het
Lhx9	A	T	1: 138,766,324 (GRCm39)	C164S	probably damaging	Het
Loxl3	G	T	6: 83,025,697 (GRCm39)	G352C	probably damaging	Het
Lrrk1	A	G	7: 65,928,432 (GRCm39)	F1232S	probably benign	Het
Mpnd	A	G	17: 56,319,469 (GRCm39)	T311A	probably benign	Het
Mpp7	A	T	18: 7,444,025 (GRCm39)	D132E	probably benign	Het
Nck2	T	C	1: 43,593,740 (GRCm39)	S316P	probably damaging	Het
Nckap5	T	C	1: 125,955,509 (GRCm39)	S348G	probably damaging	Het
Nyap1	C	T	5: 137,730,077 (GRCm39)	R790H	probably damaging	Het
Or5b124	C	T	19: 13,610,958 (GRCm39)	T161I	possibly damaging	Het
Pdcd11	G	A	19: 47,094,736 (GRCm39)	V507I	probably damaging	Het
Pdzd2	T	C	15: 12,375,995 (GRCm39)	H1380R	probably benign	Het
Pgap1	C	T	1: 54,529,430 (GRCm39)	V763I	probably benign	Het
Pnma8b	G	T	7: 16,680,263 (GRCm39)	V416L	probably damaging	Het
Prkn	A	T	17: 12,269,609 (GRCm39)	N421Y	probably benign	Het
Psmb5	C	T	14: 54,855,342 (GRCm39)	G36D	probably benign	Het
Ptprq	A	G	10: 107,522,239 (GRCm39)	S571P	possibly damaging	Het
Rap1gap	A	C	4: 137,444,748 (GRCm39)	S254R	probably damaging	Het
Rufy2	A	T	10: 62,843,472 (GRCm39)	D492V	probably benign	Het
Ryr2	C	A	13: 11,610,392 (GRCm39)	E4145*	probably null	Het
Sgsm1	A	G	5: 113,407,958 (GRCm39)	F898L	probably damaging	Het
Slc26a9	C	A	1: 131,689,514 (GRCm39)	A487D	possibly damaging	Het
Slc6a15	T	C	10: 103,229,890 (GRCm39)		probably null	Het
Smad9	A	T	3: 54,696,687 (GRCm39)	T251S	probably benign	Het
Socs3	A	T	11: 117,858,478 (GRCm39)	C193*	probably null	Het
Sox6	T	A	7: 115,076,199 (GRCm39)	D813V	probably damaging	Het
Taf2	A	T	15: 54,929,361 (GRCm39)	L65*	probably null	Het
Taf6	G	A	5: 138,178,097 (GRCm39)	A468V	probably benign	Het
Tmem71	T	C	15: 66,426,961 (GRCm39)	D78G	probably damaging	Het
Tob2	T	C	15: 81,735,288 (GRCm39)	N227S	probably benign	Het
Trim34a	C	A	7: 103,898,623 (GRCm39)	Q180K	probably damaging	Het
Ugt1a9	T	C	1: 87,999,378 (GRCm39)	L276P	possibly damaging	Het
Wdr33	G	A	18: 31,960,405 (GRCm39)	R23Q	possibly damaging	Het
Wnt7b	T	G	15: 85,427,887 (GRCm39)	N189H		Het
Zfp609	G	A	9: 65,604,804 (GRCm39)	A1308V	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
R6456:Prpf4	UTSW	4	62,332,869 (GRCm39)	critical splice donor site	probably null
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
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'- GACGAGTGCCTGCTTTGTTC -3'
(R):5'- CTGGTTGTCTCAGGAATCTCC -3'

Sequencing Primer
(F):5'- GTTCTGTTACTGCACCAGACAC -3'
(R):5'- TCCTTATGGAGACGGGCCTC -3'

Posted On

2020-07-28