Mutagenetix > Incidental Mutations

Incidental Mutation 'R5863:Prpf4b'

454023

Institutional Source

Beutler Lab

Gene Symbol

Prpf4b

Ensembl Gene

ENSMUSG00000021413

Gene Name

pre-mRNA processing factor 4B

Synonyms

Prp4, Prp4k, Prpk

MMRRC Submission

043232-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5863 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34875302-34906064 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 34899128 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 829 (I829N)

Ref Sequence

ENSEMBL: ENSMUSP00000152654 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000077853
AA Change: I829N

PolyPhen 2 Score 0.514 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000077019
Gene: ENSMUSG00000021413
AA Change: I829N

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

unknown
Transcript: ENSMUST00000220965
AA Change: I332N

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

possibly damaging
Transcript: ENSMUST00000222509
AA Change: I829N

PolyPhen 2 Score 0.514 (Sensitivity: 0.88; Specificity: 0.90)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222834

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223228

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 93.4%

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aacs	T	C	5: 125,503,223	I204T	possibly damaging	Het
Abcc2	A	G	19: 43,798,136	I136V	probably benign	Het
Adam6a	T	C	12: 113,544,367	I120T	probably benign	Het
Add3	C	A	19: 53,233,870	L303I	probably benign	Het
Als2cr12	G	T	1: 58,691,749	H49Q	probably benign	Het
Anln	A	G	9: 22,337,984	L149P	probably damaging	Het
Arhgef4	A	G	1: 34,722,845	E394G	unknown	Het
Asns	G	A	6: 7,675,443	Q520*	probably null	Het
Auh	T	G	13: 52,898,658	N141T	probably benign	Het
B3galt2	G	A	1: 143,646,366	R80Q	probably benign	Het
Bcl9	T	C	3: 97,210,350	T343A	probably benign	Het
C3	T	A	17: 57,223,141	I487F	probably benign	Het
Cast	T	C	13: 74,736,756	K326E	probably damaging	Het
Ccdc185	T	A	1: 182,748,557	H189L	possibly damaging	Het
Cep112	A	G	11: 108,606,232	E51G	probably damaging	Het
Cpvl	G	A	6: 53,873,428	P475S	probably damaging	Het
Cstf2t	G	T	19: 31,083,077	L4F	probably damaging	Het
Dido1	A	G	2: 180,661,773	V1446A	probably benign	Het
Dlg2	T	A	7: 91,711,779	M35K	probably benign	Het
Dnah12	C	T	14: 26,854,921	L3043F	probably damaging	Het
Fam135a	A	G	1: 24,014,782	S1225P	possibly damaging	Het
Fhod3	T	C	18: 25,125,753	F1443S	probably benign	Het
Gm14226	C	A	2: 155,024,291	T56N	probably benign	Het
Itgb4	C	T	11: 115,990,922	R766W	probably damaging	Het
Kcnj8	T	A	6: 142,565,688	I398F	probably benign	Het
Khdrbs1	G	A	4: 129,722,700	R284C	probably damaging	Het
Nog	A	G	11: 89,301,530	L164P	probably damaging	Het
Olfr46	G	A	7: 140,610,631	G155D	probably damaging	Het
Olfr898	T	C	9: 38,349,787	S235P	probably benign	Het
Pkhd1	T	A	1: 20,520,210	Q1771L	possibly damaging	Het
Prl3c1	T	A	13: 27,203,610	*193K	probably null	Het
Rassf1	C	T	9: 107,557,824	P103S	probably damaging	Het
Rdh16f2	A	C	10: 127,876,387	I238L	probably benign	Het
Sdk2	G	T	11: 113,834,984	D1146E	probably damaging	Het
Slc16a3	T	C	11: 120,957,953	F412L	probably benign	Het
Slc24a1	T	C	9: 64,928,542	T768A	unknown	Het
Stk32a	A	G	18: 43,315,144	N396S	probably benign	Het
Ston1	T	C	17: 88,635,945	S260P	possibly damaging	Het
Tmem135	A	G	7: 89,147,968		probably null	Het
Tmem30c	A	G	16: 57,270,055	V263A	probably benign	Het
Ttn	T	A	2: 76,756,758	T21632S	probably damaging	Het
Ube2w	A	G	1: 16,585,307	I141T	probably damaging	Het
Zfp651	A	G	9: 121,767,530	S651G	probably benign	Het
Zscan20	A	T	4: 128,586,348	C783*	probably null	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
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
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

Predicted Primers

PCR Primer
(F):5'- AGTAAAATGTATTGCACCTGGC -3'
(R):5'- AGTGCTTAGACAGGGCACAC -3'

Sequencing Primer
(F):5'- GCACCTGGCATTCCCTGTG -3'
(R):5'- ACGCTGCTTCCACCAGAG -3'

Posted On

2017-02-10