Mutagenetix > Incidental Mutations

Incidental Mutation 'R0157:Prpf4b'

22940

Institutional Source

Beutler Lab

Gene Symbol

Prpf4b

Ensembl Gene

ENSMUSG00000021413

Gene Name

pre-mRNA processing factor 4B

Synonyms

Prp4, Prp4k, Prpk

MMRRC Submission

038437-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0157 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34875302-34906064 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 34884031 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q61136

Predicted Effect

unknown
Transcript: ENSMUST00000077853
AA Change: V281A

SMART Domains

Protein: ENSMUSP00000077019
Gene: ENSMUSG00000021413
AA Change: V281A

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

noncoding transcript
Transcript: ENSMUST00000221639

Predicted Effect

unknown
Transcript: ENSMUST00000222509
AA Change: V281A

Meta Mutation Damage Score

0.0582

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.0%
20x: 88.5%

Validation Efficiency

64% (47/73)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adap2	T	A	11: 80,165,701	I180N	probably damaging	Het
Alk	T	A	17: 71,949,845	N673I	probably benign	Het
Ankrd7	T	C	6: 18,866,540	S20P	probably damaging	Het
Arhgef26	T	G	3: 62,380,971	D487E	probably damaging	Het
Arhgef4	A	G	1: 34,806,394	D1500G	probably damaging	Het
Arhgef7	A	G	8: 11,785,812	I39V	probably damaging	Het
Asap2	T	A	12: 21,206,325	I208N	probably damaging	Het
Atad5	T	C	11: 80,089,817	V16A	possibly damaging	Het
Atp2b1	T	C	10: 98,999,947	I518T	probably damaging	Het
B130006D01Rik	T	C	11: 95,726,385		probably benign	Het
BC028528	A	G	3: 95,884,968		probably null	Het
Bpifb6	T	A	2: 153,903,966	L74Q	probably benign	Het
Bptf	T	C	11: 107,074,658	T1122A	possibly damaging	Het
Cacna2d4	T	A	6: 119,312,424	D806E	probably benign	Het
Cdhr3	T	C	12: 33,061,650	Q287R	possibly damaging	Het
Cdk12	A	G	11: 98,249,776		probably benign	Het
Cenpf	T	A	1: 189,652,359	T2575S	probably benign	Het
Chd7	T	A	4: 8,833,759	I1171N	probably damaging	Het
Chd9	T	C	8: 91,008,836		probably null	Het
Ckmt1	A	G	2: 121,363,041	T361A	possibly damaging	Het
Clec4d	G	T	6: 123,267,136	R68L	probably benign	Het
Csmd2	G	T	4: 128,521,911	V2678F	probably benign	Het
Cul7	T	A	17: 46,653,835	V131E	possibly damaging	Het
Dab2	T	C	15: 6,429,827	S407P	probably benign	Het
Dnah17	C	T	11: 118,127,171	G166D	probably benign	Het
F13b	G	A	1: 139,503,847	V52I	probably benign	Het
Fam208b	C	A	13: 3,575,550	V1467L	probably benign	Het
Gjd4	T	C	18: 9,280,549	I176M	probably benign	Het
Gm13083	C	T	4: 143,615,796	P158S	probably damaging	Het
Gm4969	T	C	7: 19,107,020	H63R	possibly damaging	Het
Hoxc11	A	G	15: 102,955,001	Y159C	probably damaging	Het
Hydin	T	C	8: 110,300,010	I120T	possibly damaging	Het
Il20rb	A	G	9: 100,473,079	Y104H	probably damaging	Het
Krtap21-1	A	G	16: 89,403,542	C71R	unknown	Het
Lamc1	T	C	1: 153,262,607	D167G	probably benign	Het
Lin7c	C	A	2: 109,895,169	A73E	probably damaging	Het
Mms22l	C	A	4: 24,588,224	A952E	probably damaging	Het
Myh3	A	G	11: 67,082,909	N136S	probably benign	Het
Ndufb10	T	C	17: 24,724,244	T31A	probably benign	Het
Nlrp2	T	C	7: 5,308,770	Y37C	possibly damaging	Het
Olfr1384	T	C	11: 49,513,773	I45T	probably damaging	Het
Olfr314	T	C	11: 58,787,059	F275S	probably damaging	Het
Orc3	C	A	4: 34,607,130		probably null	Het
Pard3b	A	C	1: 62,211,633	M512L	probably damaging	Het
Pcdh10	A	G	3: 45,379,701	D150G	probably damaging	Het
Pcolce	A	T	5: 137,610,479		probably null	Het
Pdcl	A	C	2: 37,352,177	I187S	probably damaging	Het
Pkn1	T	C	8: 83,692,820	I51M	probably damaging	Het
Pla2g4e	T	A	2: 120,170,181	T692S	probably benign	Het
Plcb2	C	A	2: 118,718,541	V380F	probably damaging	Het
Pmpcb	A	T	5: 21,742,952	I218F	probably damaging	Het
Pms1	A	T	1: 53,195,037	Y773*	probably null	Het
Polr2e	C	T	10: 80,036,781	G184R	probably damaging	Het
Polr3a	T	C	14: 24,479,186	I369V	probably damaging	Het
Pzp	G	A	6: 128,523,976	Q140*	probably null	Het
Qrich2	T	A	11: 116,441,395	E2325V	probably damaging	Het
R3hdm2	T	G	10: 127,471,989	L373R	probably damaging	Het
Sema3d	A	T	5: 12,508,137	D212V	possibly damaging	Het
Sidt2	A	G	9: 45,939,267	I850T	probably damaging	Het
Slc22a29	C	T	19: 8,162,742	R433H	possibly damaging	Het
Slitrk6	A	T	14: 110,749,932	L781H	probably damaging	Het
Sox21	G	A	14: 118,235,942		probably benign	Het
Steap3	A	G	1: 120,227,649	*527R	probably null	Het
Svep1	T	C	4: 58,069,830	E2652G	possibly damaging	Het
Taar2	T	A	10: 23,941,491	F310I	probably damaging	Het
Tecta	A	G	9: 42,375,011	V783A	probably benign	Het
Vmn1r173	T	A	7: 23,702,397	I19N	probably damaging	Het
Vwa5b1	T	A	4: 138,604,879	M276L	probably benign	Het
Yeats2	A	C	16: 20,221,677	*142C	probably null	Het
Zfp26	G	T	9: 20,437,870	T466K	probably benign	Het
Zfp426	T	C	9: 20,471,136	N171S	probably benign	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
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
R7966:Prpf4b	UTSW	13	34901445	missense	probably damaging	0.96
R8241:Prpf4b	UTSW	13	34895991	missense	probably damaging	1.00
R8298:Prpf4b	UTSW	13	34888183	missense	unknown
RF002:Prpf4b	UTSW	13	34884236	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AGGTCTTCCAGTACTCGGGGAAAAC -3'
(R):5'- CGAGAAGGCGATTTGCTCTGCTTAG -3'

Sequencing Primer
(F):5'- TACTCGGGGAAAACTTGAAATTACG -3'
(R):5'- CTTTTAGGACTACGGCCAGG -3'

Posted On

2013-04-16