Mutagenetix > Incidental Mutations

Incidental Mutation 'R8241:Prpf4b'

637572

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 #

R8241 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34875302-34906064 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 34895991 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 779 (K779N)

Ref Sequence

ENSEMBL: ENSMUSP00000077019 (fasta)

Gene Model

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

AlphaFold

Q61136

Predicted Effect

probably damaging
Transcript: ENSMUST00000077853
AA Change: K779N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000077019
Gene: ENSMUSG00000021413
AA Change: K779N

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

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.1%
20x: 98.1%

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	C	11: 110,188,630	R1233G	probably null	Het
Acacb	A	T	5: 114,195,236	I474F	possibly damaging	Het
Adora1	A	T	1: 134,203,324	V203D	probably damaging	Het
Aff4	A	G	11: 53,400,171	S653G	probably benign	Het
Agtr1a	T	C	13: 30,381,099	V49A	probably damaging	Het
Ahnak	T	C	19: 9,007,295	V1981A	probably benign	Het
Arhgap5	T	G	12: 52,518,315	Y690D	probably benign	Het
Bbs9	A	G	9: 22,678,918	I651V	probably benign	Het
Brms1	C	T	19: 5,045,979	A27V	probably benign	Het
Camta1	A	G	4: 151,083,825	V256A	probably benign	Het
Capg	G	T	6: 72,556,253		probably null	Het
Chpt1	T	C	10: 88,453,091	K154E		Het
Cyp1b1	T	C	17: 79,713,794	E173G	probably damaging	Het
Fan1	T	A	7: 64,372,486	N340Y	probably damaging	Het
Fbxw27	T	G	9: 109,773,215	N230T	possibly damaging	Het
Fer1l4	T	C	2: 156,049,665	T126A	probably benign	Het
Fut10	C	A	8: 31,260,006	S440*	probably null	Het
Gbf1	T	C	19: 46,246,137	V71A	probably damaging	Het
Gpatch8	T	C	11: 102,487,521	E201G	unknown	Het
Hic2	A	G	16: 17,259,086	Y593C	probably damaging	Het
Hlcs	A	T	16: 94,267,818	V181E	probably damaging	Het
Itpr2	A	T	6: 146,418,515	I176N	possibly damaging	Het
Kcna2	G	T	3: 107,105,022	K306N	probably damaging	Het
Kcnb1	A	G	2: 167,106,197	Y244H	probably damaging	Het
Klhl8	C	T	5: 103,867,526	V511I	probably damaging	Het
Mapk14	T	A	17: 28,715,400	D88E	possibly damaging	Het
March10	C	A	11: 105,389,915	A515S	probably benign	Het
Mrpl1	T	A	5: 96,238,874	L241I	probably damaging	Het
Mybpc1	A	T	10: 88,536,424	N781K	probably benign	Het
Nfkb2	T	A	19: 46,307,615	D186E	probably benign	Het
Olfr401	G	A	11: 74,122,209	V307I	probably benign	Het
Plcl1	A	G	1: 55,695,817	I106V	probably benign	Het
Ppp4r2	A	G	6: 100,865,083	I168M	probably damaging	Het
Qrich1	T	C	9: 108,556,561		probably null	Het
Rgs12	T	C	5: 34,965,773	F300S	probably damaging	Het
Sart3	T	A	5: 113,745,968	K661M	probably benign	Het
Scyl2	T	C	10: 89,654,109	I464V	possibly damaging	Het
Sema5a	A	G	15: 32,574,918	T391A	probably benign	Het
Sh3bgr	A	G	16: 96,223,870	T183A	unknown	Het
Sh3rf3	C	T	10: 59,104,420	P688S	probably benign	Het
Themis3	T	C	17: 66,559,967	T93A	probably benign	Het
Thsd7b	T	A	1: 130,189,951	S1402T	probably damaging	Het
Ubr1	A	T	2: 120,963,456	D82E	possibly damaging	Het
Vmn1r223	T	C	13: 23,249,812	F192S	probably benign	Het
Vmn2r98	A	G	17: 19,080,769	K678E	probably damaging	Het
Vps13d	G	T	4: 145,148,477	T1826N		Het
Vps41	A	G	13: 18,848,998	D633G	possibly damaging	Het
Wdr3	A	T	3: 100,149,943	I448N	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
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
R8298:Prpf4b	UTSW	13	34888183	missense	unknown
RF002:Prpf4b	UTSW	13	34884236	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GGGCATAGTGTTATTCTCCCATC -3'
(R):5'- ATTCTTGGGTCACTCCACAC -3'

Sequencing Primer
(F):5'- CTCAGTGCCAAATAATTTATCAGGC -3'
(R):5'- TTGGGTCACTCCACACTATAAATC -3'

Posted On

2020-07-13