Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02590:Prpf4b'

299716

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL02590

Quality Score

Status

Chromosome

Chromosomal Location

34875302-34906064 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 34888146 bp

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

Predicted Effect

unknown
Transcript: ENSMUST00000077853
AA Change: S479P

SMART Domains

Protein: ENSMUSP00000077019
Gene: ENSMUSG00000021413
AA Change: S479P

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: S479P

Coding Region Coverage

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl3	A	G	4: 144,457,834	F118S	probably damaging	Het
Adam5	T	G	8: 24,744,135		probably benign	Het
Bok	T	C	1: 93,686,675		probably benign	Het
C1s1	C	T	6: 124,531,276	V585I	possibly damaging	Het
Chd2	C	T	7: 73,453,200	V1346I	probably benign	Het
Cyb5a	A	T	18: 84,871,607	T54S	probably benign	Het
Dnah7b	A	T	1: 46,123,777	T428S	probably benign	Het
Efhc1	T	C	1: 20,967,384	Y262H	probably damaging	Het
Fyb2	A	T	4: 104,979,053	I404F	probably damaging	Het
Glra2	T	C	X: 165,254,226	N237S	probably benign	Het
Gypc	A	G	18: 32,530,007	*96R	probably null	Het
Il15	T	C	8: 82,343,283	I51V	probably benign	Het
Itgb2	T	C	10: 77,559,513	C483R	probably damaging	Het
Kdr	C	T	5: 75,936,323	D1272N	probably benign	Het
Kif14	C	A	1: 136,496,004	T969K	probably benign	Het
Klhl42	T	C	6: 147,092,312	S261P	probably damaging	Het
Lrp1	C	A	10: 127,552,791	G3263V	probably damaging	Het
Mid1	A	G	X: 169,927,023	E5G	probably damaging	Het
Mmrn2	T	A	14: 34,399,267	L698*	probably null	Het
Myh14	T	G	7: 44,624,079	Q1393P	probably damaging	Het
Ncoa7	C	T	10: 30,694,163	E267K	probably damaging	Het
Obox5	T	C	7: 15,757,592	I19T	possibly damaging	Het
Olfr1054	A	G	2: 86,333,000	S119P	possibly damaging	Het
Olfr53	A	G	7: 140,652,392		probably null	Het
Pcnx	A	G	12: 81,994,978	Y2128C	probably damaging	Het
Plcb1	A	G	2: 135,294,864	D293G	probably benign	Het
Psapl1	A	T	5: 36,205,053	T330S	probably benign	Het
Rap1gap	A	G	4: 137,720,300	T453A	probably damaging	Het
Ric1	T	A	19: 29,567,481		probably benign	Het
Robo1	A	G	16: 73,043,132	E1590G	probably benign	Het
Sorl1	C	T	9: 42,046,561	V596I	probably benign	Het
Tlr12	A	G	4: 128,617,389	I356T	probably benign	Het
Trav8d-2	T	C	14: 53,042,449	S8P	possibly damaging	Het
Tyms	C	A	5: 30,064,151	V75L	probably benign	Het
Vmn1r230	T	A	17: 20,846,910	S120R	probably damaging	Het
Vmn2r84	T	A	10: 130,391,487		probably benign	Het
Wdr27	C	T	17: 14,917,779	A388T	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
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
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

Posted On

2015-04-16