Mutagenetix > Incidental Mutations

Incidental Mutation 'R4603:Prpf4b'

345810

Institutional Source

Beutler Lab

Gene Symbol

Prpf4b

Ensembl Gene

ENSMUSG00000021413

Gene Name

pre-mRNA processing factor 4B

Synonyms

Prp4, Prp4k, Prpk

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4603 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34875302-34906064 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 34888164 bp

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077853] [ENSMUST00000222509]

Predicted Effect

unknown
Transcript: ENSMUST00000077853
AA Change: S485P

SMART Domains

Protein: ENSMUSP00000077019
Gene: ENSMUSG00000021413
AA Change: S485P

Domain	Start	End	E-Value	Type
low complexity region	40	62	N/A	INTRINSIC
low complexity region	68	80	N/A	INTRINSIC
coiled coil region	102	123	N/A	INTRINSIC
low complexity region	142	150	N/A	INTRINSIC
low complexity region	156	170	N/A	INTRINSIC
low complexity region	178	197	N/A	INTRINSIC
low complexity region	210	233	N/A	INTRINSIC
low complexity region	238	249	N/A	INTRINSIC
low complexity region	284	294	N/A	INTRINSIC
low complexity region	299	324	N/A	INTRINSIC
low complexity region	340	360	N/A	INTRINSIC
low complexity region	390	417	N/A	INTRINSIC
low complexity region	435	497	N/A	INTRINSIC
low complexity region	521	535	N/A	INTRINSIC
low complexity region	562	581	N/A	INTRINSIC
S_TKc	687	1003	4.99e-74	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000220965

Predicted Effect

probably benign
Transcript: ENSMUST00000221077

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221639

Predicted Effect

unknown
Transcript: ENSMUST00000222509
AA Change: S485P

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Pre-mRNA splicing occurs in two sequential transesterification steps, and the protein encoded by this gene is thought to be involved in pre-mRNA splicing and in signal transduction. This protein belongs to a kinase family that includes serine/arginine-rich protein-specific kinases and cyclin-dependent kinases (CDKs). This protein is regarded as a CDK-like kinase (Clk) with homology to mitogen-activated protein kinases (MAPKs). [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029J07Rik	A	T	8: 45,970,468	I69N	probably damaging	Het
1810024B03Rik	A	G	2: 127,187,099	V60A	probably damaging	Het
Afg3l1	A	G	8: 123,501,935	T747A	probably benign	Het
Aldh4a1	T	C	4: 139,643,429	S408P	probably damaging	Het
Ank2	T	C	3: 127,032,016	T445A	probably benign	Het
Antxrl	A	G	14: 34,075,835	E589G	possibly damaging	Het
Arhgef12	C	T	9: 43,010,193	G329R	probably benign	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
AY358078	T	A	14: 51,826,075	C393S	possibly damaging	Het
Brca2	T	A	5: 150,536,165	C302S	possibly damaging	Het
Ccdc169	T	A	3: 55,150,805	M4K	probably benign	Het
Ccdc66	T	C	14: 27,500,420	N122S	probably damaging	Het
Cd226	T	C	18: 89,207,219	V80A	probably damaging	Het
Cdc73	T	C	1: 143,677,857		probably null	Het
Cse1l	T	C	2: 166,944,532	V604A	probably benign	Het
Cxcr1	G	C	1: 74,192,737	T42S	probably benign	Het
Dhx9	TCC	TC	1: 153,467,051		probably null	Het
Ercc3	G	A	18: 32,245,571	A202T	probably benign	Het
Erp27	A	G	6: 136,919,949	V85A	probably damaging	Het
Fgf8	T	G	19: 45,738,153	I137L	probably benign	Het
Fgfrl1	T	A	5: 108,703,535	V106D	probably damaging	Het
Gaa	T	C	11: 119,278,958	W613R	probably damaging	Het
Gabarap	A	G	11: 69,994,461	N66S	probably benign	Het
Gm13103	T	A	4: 143,852,881	H345Q	probably benign	Het
Gm13178	A	G	4: 144,703,228	V397A	probably benign	Het
Gp1bb	A	T	16: 18,621,143	L67Q	probably damaging	Het
Gpn1	T	C	5: 31,497,352		probably null	Het
Gstt1	T	C	10: 75,794,135	Y48C	probably damaging	Het
Impad1	T	C	4: 4,767,878	I299M	probably damaging	Het
Iqcg	C	T	16: 33,040,764	R194K	probably null	Het
Iqcg	C	G	16: 33,040,763		probably null	Het
Kcnj3	C	T	2: 55,446,979	R286*	probably null	Het
Klhl38	T	A	15: 58,323,220	I38F	possibly damaging	Het
Kmo	C	A	1: 175,651,642	P248Q	probably benign	Het
Mbtps1	A	T	8: 119,535,347	D354E	probably damaging	Het
Mcpt9	C	T	14: 56,028,592	V60M	probably damaging	Het
Mical3	C	A	6: 120,934,838	E1083*	probably null	Het
Mprip	T	C	11: 59,731,573	V162A	probably damaging	Het
Mrc2	G	A	11: 105,348,431		probably null	Het
Myocd	T	C	11: 65,187,745	D408G	possibly damaging	Het
Myt1l	A	G	12: 29,842,540	T59A	probably benign	Het
Ndufb7	A	G	8: 83,566,865	E16G	probably damaging	Het
Ndufs7	T	A	10: 80,256,667	Y203*	probably null	Het
Nploc4	C	T	11: 120,385,787	V478I	probably benign	Het
Nrap	A	G	19: 56,335,024		probably null	Het
Oit1	T	A	14: 8,358,429	S57C	probably damaging	Het
Olfr513	A	T	7: 108,755,627	Y257F	probably damaging	Het
Olfr777	G	A	10: 129,268,405	A306V	probably benign	Het
Pald1	T	C	10: 61,348,616	T241A	probably benign	Het
Pdss2	T	C	10: 43,372,201	S234P	probably damaging	Het
Pias2	T	A	18: 77,130,107	V335E	probably damaging	Het
Ppip5k2	C	A	1: 97,755,136	K187N	probably damaging	Het
Ppp3cb	T	C	14: 20,520,646	N339S	possibly damaging	Het
Ppp4r1	T	G	17: 65,813,464	C181G	probably damaging	Het
Prkdc	G	A	16: 15,810,824	E3478K	probably damaging	Het
Psme3	T	A	11: 101,317,609		probably null	Het
Ptpre	C	A	7: 135,667,643	Y284*	probably null	Het
Scnn1a	A	G	6: 125,322,160	I94V	probably damaging	Het
Secisbp2l	C	T	2: 125,740,737	G933D	possibly damaging	Het
Shc2	T	C	10: 79,623,856	D418G	probably benign	Het
Sidt1	A	T	16: 44,255,026	D661E	probably damaging	Het
Slc35e2	T	C	4: 155,617,649	F290S	probably benign	Het
Sorcs1	A	G	19: 50,312,964		probably null	Het
Stox2	A	G	8: 47,192,935	S497P	probably damaging	Het
Tmem270	C	A	5: 134,901,628	E260*	probably null	Het
Tmtc2	T	C	10: 105,413,530	Y114C	probably benign	Het
Trim46	A	G	3: 89,243,651	F188S	probably benign	Het
Trim7	T	A	11: 48,837,528	M1K	probably null	Het
Txnip	A	G	3: 96,558,288	E18G	probably benign	Het
Usp34	A	G	11: 23,464,633	N2859D	probably damaging	Het
Vmn2r94	T	A	17: 18,257,385	I255F	probably benign	Het
Xkr5	T	A	8: 18,933,717	N603I	possibly damaging	Het
Zfp512	C	T	5: 31,480,226	A497V	probably benign	Het
Zfp518b	T	C	5: 38,673,627	N345S	probably damaging	Het

Other mutations in Prpf4b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00332:Prpf4b	APN	13	34883907	missense	probably benign	0.23
IGL00639:Prpf4b	APN	13	34899173	missense	possibly damaging	0.70
IGL00901:Prpf4b	APN	13	34894482	missense	probably damaging	1.00
IGL01301:Prpf4b	APN	13	34884291	missense	probably benign	0.23
IGL02027:Prpf4b	APN	13	34889571	missense	probably benign	0.35
IGL02111:Prpf4b	APN	13	34883961	missense	probably benign	0.23
IGL02256:Prpf4b	APN	13	34899878	missense	probably damaging	0.98
IGL02590:Prpf4b	APN	13	34888146	unclassified	probably benign
IGL03389:Prpf4b	APN	13	34900456	splice site	probably benign
IGL03411:Prpf4b	APN	13	34895359	missense	probably damaging	1.00
ANU18:Prpf4b	UTSW	13	34884291	missense	probably benign	0.23
PIT4260001:Prpf4b	UTSW	13	34884291	missense	probably benign	0.23
PIT4696001:Prpf4b	UTSW	13	34899842	missense	probably benign	0.01
R0114:Prpf4b	UTSW	13	34890488	splice site	probably benign
R0157:Prpf4b	UTSW	13	34884031	unclassified	probably benign
R1551:Prpf4b	UTSW	13	34894443	missense	possibly damaging	0.91
R1587:Prpf4b	UTSW	13	34892150	missense	probably benign	0.09
R2105:Prpf4b	UTSW	13	34884231	unclassified	probably benign
R2152:Prpf4b	UTSW	13	34900419	missense	probably benign	0.04
R2432:Prpf4b	UTSW	13	34883341	unclassified	probably benign
R3802:Prpf4b	UTSW	13	34883682	unclassified	probably benign
R3803:Prpf4b	UTSW	13	34883682	unclassified	probably benign
R3804:Prpf4b	UTSW	13	34883682	unclassified	probably benign
R3982:Prpf4b	UTSW	13	34884213	unclassified	probably benign
R4633:Prpf4b	UTSW	13	34900442	missense	probably damaging	1.00
R4649:Prpf4b	UTSW	13	34899971	missense	probably benign	0.06
R4651:Prpf4b	UTSW	13	34899971	missense	probably benign	0.06
R4653:Prpf4b	UTSW	13	34899971	missense	probably benign	0.06
R5022:Prpf4b	UTSW	13	34883599	unclassified	probably benign
R5028:Prpf4b	UTSW	13	34899975	missense	probably damaging	1.00
R5232:Prpf4b	UTSW	13	34883590	unclassified	probably benign
R5313:Prpf4b	UTSW	13	34894549	missense	probably damaging	1.00
R5440:Prpf4b	UTSW	13	34884093	unclassified	probably benign
R5511:Prpf4b	UTSW	13	34884054	unclassified	probably benign
R5863:Prpf4b	UTSW	13	34899128	missense	possibly damaging	0.51
R5981:Prpf4b	UTSW	13	34886710	missense	probably benign	0.23
R6360:Prpf4b	UTSW	13	34901433	missense	probably damaging	0.99
R6398:Prpf4b	UTSW	13	34900371	missense	probably damaging	1.00
R6556:Prpf4b	UTSW	13	34896032	missense	probably damaging	0.98
R6880:Prpf4b	UTSW	13	34894453	missense	possibly damaging	0.69
R7133:Prpf4b	UTSW	13	34901494	missense	probably benign	0.02
R7148:Prpf4b	UTSW	13	34894472	missense	probably benign	0.04
R7208:Prpf4b	UTSW	13	34884011	missense	unknown
RF002:Prpf4b	UTSW	13	34884236	missense	unknown

Predicted Primers

PCR Primer
(F):5'- ACCATGTCTGGACACCTTTCT -3'
(R):5'- CCCTCCAGTACACCAATTTTCCTAAC -3'

Sequencing Primer
(F):5'- GCCTTATAGCTGGATCTCATCGAAG -3'
(R):5'- TCCTAACCTAGAATCATGAAATGGC -3'

Posted On

2015-09-25