Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02305:Prpf4'

287568

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Prpf4

Ensembl Gene

ENSMUSG00000066148

Gene Name

pre-mRNA processing factor 4

Synonyms

1600015H11Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.941) question?

Stock #

IGL02305

Quality Score

Status

Chromosome

Chromosomal Location

62327034-62345227 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 62333633 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 benign
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

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts16	G	A	13: 70,921,048 (GRCm39)	T599I	probably damaging	Het
Ahi1	A	G	10: 20,846,796 (GRCm39)	T409A	probably benign	Het
Apol10b	T	A	15: 77,469,630 (GRCm39)	R182S	possibly damaging	Het
Arhgap35	A	G	7: 16,297,590 (GRCm39)	F492L	probably benign	Het
Ccdc136	A	G	6: 29,406,173 (GRCm39)	D173G	probably damaging	Het
Ccndbp1	T	C	2: 120,841,933 (GRCm39)	L67P	probably damaging	Het
Dync2h1	C	T	9: 7,122,678 (GRCm39)	V2093I	probably benign	Het
Eps15l1	T	C	8: 73,140,853 (GRCm39)	K213R	probably null	Het
Fat4	A	T	3: 39,064,137 (GRCm39)	N4698Y	probably damaging	Het
Frmpd1	G	T	4: 45,249,209 (GRCm39)	R133L	probably damaging	Het
Gdi2	T	A	13: 3,606,428 (GRCm39)	M158K	probably damaging	Het
Hoxc8	A	G	15: 102,901,025 (GRCm39)	Y156C	probably damaging	Het
Iho1	A	T	9: 108,283,031 (GRCm39)	M219K	possibly damaging	Het
Kcnh2	T	C	5: 24,527,658 (GRCm39)	D898G	possibly damaging	Het
Kng2	T	C	16: 22,819,374 (GRCm39)		probably benign	Het
Men1	T	C	19: 6,390,168 (GRCm39)	L566P	probably damaging	Het
Mtmr2	T	C	9: 13,706,551 (GRCm39)	W153R	probably damaging	Het
Mug2	T	G	6: 122,013,015 (GRCm39)	L309R	probably benign	Het
Myo7a	A	G	7: 97,700,836 (GRCm39)	*2165R	probably null	Het
Ogfod2	T	C	5: 124,250,910 (GRCm39)		probably null	Het
Or8b48	C	T	9: 38,492,809 (GRCm39)	P79S	probably damaging	Het
Or8g20	A	T	9: 39,396,333 (GRCm39)	I72N	probably damaging	Het
Pard6g	T	C	18: 80,160,985 (GRCm39)	L366P	probably damaging	Het
Pdlim4	A	T	11: 53,946,759 (GRCm39)	L117H	probably damaging	Het
Pkd1l1	G	A	11: 8,852,467 (GRCm39)	A672V	probably benign	Het
Pomt2	A	G	12: 87,164,703 (GRCm39)		probably benign	Het
Rad17	C	T	13: 100,770,370 (GRCm39)		probably null	Het
Ryr3	T	A	2: 112,475,622 (GRCm39)	I4499F	probably damaging	Het
Sav1	A	G	12: 70,033,550 (GRCm39)		probably benign	Het
Scube1	A	T	15: 83,491,591 (GRCm39)	F887I	probably damaging	Het
Slc5a6	T	C	5: 31,195,179 (GRCm39)	S473G	probably benign	Het
Taf1b	T	C	12: 24,594,270 (GRCm39)	S268P	possibly damaging	Het
Tmem135	A	T	7: 88,814,331 (GRCm39)		probably null	Het
Vmn2r104	A	T	17: 20,263,118 (GRCm39)	N114K	probably benign	Het
Ypel5	A	T	17: 73,155,591 (GRCm39)	Y53F	probably benign	Het
Zfp438	A	G	18: 5,213,674 (GRCm39)	V428A	possibly damaging	Het
Zzef1	T	C	11: 72,757,423 (GRCm39)		probably benign	Het

Other mutations in Prpf4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2015-04-16