Mutagenetix > Incidental Mutation

Incidental Mutation 'R9374:Prpf4'

709485

Institutional Source

Beutler Lab

Gene Symbol

Prpf4

Ensembl Gene

ENSMUSG00000066148

Gene Name

pre-mRNA processing factor 4

Synonyms

1600015H11Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.951) question?

Stock #

R9374 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

62327034-62345227 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 62336131 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 286 (V286A)

Ref Sequence

ENSEMBL: ENSMUSP00000081572 (fasta)

Gene Model

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

AlphaFold

Q9DAW6

Predicted Effect

probably benign
Transcript: ENSMUST00000084524
AA Change: V286A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000081572
Gene: ENSMUSG00000066148
AA Change: V286A

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: 99.4%

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap21	A	T	2: 20,886,397 (GRCm39)	V270E	probably damaging	Het
Blvrb	A	G	7: 27,158,786 (GRCm39)	D62G	probably benign	Het
Ccdc68	T	A	18: 70,089,113 (GRCm39)	S219T	probably damaging	Het
Celf2	G	A	2: 6,590,886 (GRCm39)	T303I	possibly damaging	Het
Cep290	T	C	10: 100,372,729 (GRCm39)	S1176P	probably damaging	Het
Cpeb2	C	A	5: 43,391,584 (GRCm39)	S260*	probably null	Het
Dscam	A	T	16: 96,857,857 (GRCm39)	I51N	probably benign	Het
Erbb4	G	A	1: 68,779,642 (GRCm39)	Q45*	probably null	Het
Fam124a	T	G	14: 62,843,988 (GRCm39)	S499A	possibly damaging	Het
Hipk3	T	C	2: 104,301,850 (GRCm39)	N114S	probably benign	Het
Hnrnph3	T	C	10: 62,853,957 (GRCm39)	M54V	probably benign	Het
Map7d1	T	C	4: 126,127,429 (GRCm39)	E720G	unknown	Het
Mark2	G	T	19: 7,263,263 (GRCm39)	T201N	possibly damaging	Het
Mef2c	A	G	13: 83,810,461 (GRCm39)	N371S	probably benign	Het
Mgst3	T	C	1: 167,205,871 (GRCm39)	Y36C	probably damaging	Het
Mtor	C	T	4: 148,599,397 (GRCm39)	R1482C	probably damaging	Het
Ndst1	G	T	18: 60,845,931 (GRCm39)	T126K	probably damaging	Het
Nkain3	C	A	4: 20,778,431 (GRCm39)		probably benign	Het
Obscn	T	C	11: 58,922,787 (GRCm39)	I5850V	possibly damaging	Het
Or11g1	C	T	14: 50,651,625 (GRCm39)	S208F	probably benign	Het
Or5d14	C	T	2: 87,880,509 (GRCm39)	W153*	probably null	Het
Or6k4	A	T	1: 173,964,885 (GRCm39)	T192S	probably benign	Het
Pbx1	T	C	1: 168,258,910 (GRCm39)	D55G	possibly damaging	Het
Pi4ka	T	C	16: 17,125,574 (GRCm39)	E1187G		Het
Pkn1	A	T	8: 84,404,367 (GRCm39)	N543K	probably benign	Het
Plin1	T	C	7: 79,372,544 (GRCm39)	N343D	probably benign	Het
Pyroxd2	A	G	19: 42,719,756 (GRCm39)		probably null	Het
Rbpms	A	G	8: 34,294,173 (GRCm39)	F190S	possibly damaging	Het
Rpl10a	T	A	17: 28,548,006 (GRCm39)	F49Y	possibly damaging	Het
Slc32a1	A	G	2: 158,455,995 (GRCm39)	T217A	probably damaging	Het
Slco6c1	T	C	1: 97,055,827 (GRCm39)	S25G	probably benign	Het
Slitrk5	C	T	14: 111,916,496 (GRCm39)	T40I	probably benign	Het
Smchd1	T	C	17: 71,718,843 (GRCm39)	N842S	possibly damaging	Het
Sorbs1	G	A	19: 40,361,923 (GRCm39)	R154*	probably null	Het
Stc2	A	G	11: 31,310,332 (GRCm39)	S235P	probably benign	Het
Tcaf2	C	T	6: 42,619,728 (GRCm39)	A100T	probably benign	Het
Tcerg1l	T	C	7: 137,995,998 (GRCm39)	D170G	possibly damaging	Het
Tcf15	T	C	2: 151,986,039 (GRCm39)	L165P	probably damaging	Het
Tle5	T	C	10: 81,399,988 (GRCm39)	V62A	probably damaging	Het
Tmem200c	G	T	17: 69,148,682 (GRCm39)	G422W	probably damaging	Het
Tnfsf13b	A	G	8: 10,085,391 (GRCm39)	I294V	possibly damaging	Het
Tns3	T	A	11: 8,442,606 (GRCm39)	T586S	probably damaging	Het
Unc80	A	T	1: 66,629,460 (GRCm39)	E1319V	possibly damaging	Het
Vegfc	A	G	8: 54,622,180 (GRCm39)	I221V	possibly damaging	Het
Vmn1r86	A	T	7: 12,836,781 (GRCm39)	Y32N	possibly damaging	Het
Vmn2r111	T	A	17: 22,787,859 (GRCm39)	L497F	probably benign	Het
Wdr49	T	C	3: 75,230,931 (GRCm39)	D577G	probably benign	Het
Xpo4	A	G	14: 57,828,512 (GRCm39)	F783L	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
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
R9659:Prpf4	UTSW	4	62,334,296 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- AGTCACTTCAATACTGTGTTCACATTC -3'
(R):5'- CAGCACACCTTCTCTGGAG -3'

Sequencing Primer
(F):5'- ATACTGTGTTCACATTCCCTGATAGG -3'
(R):5'- AGTACCCTGGACTCTTAGAGCATG -3'

Posted On

2022-04-18