Mutagenetix > Incidental Mutations

Incidental Mutation 'R4653:Prpf4b'

351490

Institutional Source

Beutler Lab

Gene Symbol

Prpf4b

Ensembl Gene

ENSMUSG00000021413

Gene Name

pre-mRNA processing factor 4B

Synonyms

Prp4, Prp4k, Prpk

MMRRC Submission

041913-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4653 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34875302-34906064 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 34899971 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 908 (M908L)

Ref Sequence

ENSEMBL: ENSMUSP00000152654 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000077853
AA Change: M908L

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000077019
Gene: ENSMUSG00000021413
AA Change: M908L

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: ENSMUST00000221087

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221156

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221784

Predicted Effect

probably benign
Transcript: ENSMUST00000222509
AA Change: M908L

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222834

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223228

Meta Mutation Damage Score

0.0789

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

97% (66/68)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	T	C	10: 79,067,430	T351A	probably benign	Het
3930402G23Rik	A	T	8: 10,926,075		noncoding transcript	Het
4933409G03Rik	G	A	2: 68,606,215	E168K	unknown	Het
Abca4	G	T	3: 122,138,581	E295*	probably null	Het
Abi3	T	C	11: 95,832,811	I215V	probably benign	Het
Adhfe1	G	T	1: 9,550,578		probably benign	Het
Akr1a1	A	G	4: 116,637,959		probably benign	Het
Ank	T	A	15: 27,590,361	W344R	probably null	Het
Cast	A	G	13: 74,746,014	S171P	probably benign	Het
Ccdc39	A	G	3: 33,819,806		probably null	Het
Cd180	T	A	13: 102,704,908	L154H	probably damaging	Het
Cnp	A	T	11: 100,576,516	D95V	probably benign	Het
Cul1	T	C	6: 47,484,963	I20T	probably damaging	Het
Dnah6	T	C	6: 73,073,457	K3042R	possibly damaging	Het
Dpy19l1	A	C	9: 24,482,054	S140A	possibly damaging	Het
Dpys	C	A	15: 39,793,246	R475L	probably damaging	Het
Dync1i2	A	G	2: 71,247,855	N276S	probably damaging	Het
Ext2	T	C	2: 93,696,159	S711G	probably benign	Het
Fam71e2	T	C	7: 4,758,055	R553G	possibly damaging	Het
Fancm	A	G	12: 65,083,054	Y223C	probably damaging	Het
Folh1	C	A	7: 86,744,425	G360*	probably null	Het
Gcat	T	C	15: 79,035,287	S151P	probably damaging	Het
Gcm2	A	T	13: 41,102,841	D477E	probably benign	Het
Git1	A	G	11: 77,505,043	N468S	possibly damaging	Het
Gtf3c1	T	C	7: 125,674,100	I622V	probably benign	Het
Hsd17b13	G	A	5: 103,965,836	L251F	probably damaging	Het
Lamc1	T	G	1: 153,228,777	S59R	probably damaging	Het
Llgl1	A	G	11: 60,708,651	D486G	possibly damaging	Het
Lrrk1	T	C	7: 66,273,053	I1366V	probably benign	Het
Ly9	G	T	1: 171,594,029	H441Q	probably benign	Het
Myo15b	G	A	11: 115,879,987		probably null	Het
Nomo1	G	T	7: 46,061,813	A639S	probably benign	Het
P3h2	T	C	16: 26,105,277	D136G	probably damaging	Het
Pde4dip	A	T	3: 97,767,338	D87E	probably damaging	Het
Pdpk1	A	T	17: 24,106,897	D108E	probably benign	Het
Pex26	C	T	6: 121,190,125	S231L	probably damaging	Het
Prpf38b	G	A	3: 108,904,092		probably benign	Het
Prps2	T	C	X: 167,352,292	D183G	probably damaging	Het
R3hdm1	T	C	1: 128,184,444	S422P	probably damaging	Het
Rhox2a	G	C	X: 37,245,309	R43P	probably benign	Het
Rps6-ps2	A	G	8: 88,806,691		noncoding transcript	Het
Ryr3	T	A	2: 112,652,763	N4213I	probably damaging	Het
Slc7a14	A	G	3: 31,257,682	V63A	probably damaging	Het
Soga1	A	G	2: 157,040,591	F514L	probably damaging	Het
Sppl2a	C	T	2: 126,920,313		probably null	Het
Sspo	T	A	6: 48,478,646	W3077R	probably damaging	Het
Stag1	T	A	9: 100,796,716	M230K	probably damaging	Het
Sv2a	T	C	3: 96,190,762		probably null	Het
Themis2	A	G	4: 132,782,976	S638P	probably benign	Het
Trabd	A	G	15: 89,085,839	Y346C	probably damaging	Het
Trim38	A	T	13: 23,782,969	D133V	probably damaging	Het
Trmt1l	G	A	1: 151,439,569	V16I	probably benign	Het
Ube2b	A	G	11: 51,995,372		probably null	Het
Usp13	A	T	3: 32,837,924	Q84L	probably damaging	Het
Vmn1r172	G	T	7: 23,660,572	G294V	probably damaging	Het
Vmn2r59	A	T	7: 42,043,804	H457Q	probably benign	Het
Vmn2r63	A	G	7: 42,903,690	I714T	possibly damaging	Het
Vps8	T	C	16: 21,500,210	Y602H	probably damaging	Het
Zbp1	G	A	2: 173,207,815	P385S	possibly 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
R4603:Prpf4b	UTSW	13	34888164	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
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'- TAAGGAGTCGCTCATTCTTATCC -3'
(R):5'- AATGTGCAGCTCTGTCCATC -3'

Sequencing Primer
(F):5'- AGGAGTCGCTCATTCTTATCCTCATG -3'
(R):5'- TACACAGCTGCATTCTTTCTCACTG -3'

Posted On

2015-10-08