Mutagenetix > Incidental Mutation

Incidental Mutation 'R1587:Prpf4b'

177590

Institutional Source

Beutler Lab

Gene Symbol

Prpf4b

Ensembl Gene

ENSMUSG00000021413

Gene Name

pre-mRNA processing factor 4B

Synonyms

Prp4, Prp4k, Prpk

MMRRC Submission

039624-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1587 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34875302-34906064 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 34892150 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Aspartic acid at position 641 (A641D)

Ref Sequence

ENSEMBL: ENSMUSP00000152654 (fasta)

Gene Model

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

AlphaFold

Q61136

Predicted Effect

probably benign
Transcript: ENSMUST00000077853
AA Change: A641D

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000077019
Gene: ENSMUSG00000021413
AA Change: A641D

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: A144D

Predicted Effect

unknown
Transcript: ENSMUST00000221077
AA Change: A9D

Predicted Effect

probably benign
Transcript: ENSMUST00000222509
AA Change: A641D

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.2%
20x: 88.9%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810474O19Rik	G	T	6: 149,326,520	V355F	probably damaging	Het
A530064D06Rik	A	T	17: 48,166,417	S111T	probably benign	Het
Abhd2	A	T	7: 79,354,010	H279L	probably benign	Het
Ablim1	C	T	19: 57,083,547	M1I	probably null	Het
Agrn	T	C	4: 156,179,440	Q122R	probably damaging	Het
Arfgef1	A	T	1: 10,159,959	F1218I	probably damaging	Het
Bud13	C	T	9: 46,290,215	P395S	probably damaging	Het
Ccdc110	G	A	8: 45,941,746	V225M	probably benign	Het
Ccdc30	A	T	4: 119,353,176	S248T	probably damaging	Het
Cdh7	C	A	1: 110,100,027	Q501K	probably damaging	Het
Cwc27	T	C	13: 104,792,637	D266G	probably benign	Het
Cyp2d40	T	A	15: 82,761,133		probably null	Het
Cyp4a32	T	G	4: 115,610,534	N238K	probably benign	Het
Ddx11	T	C	17: 66,149,256	L770P	probably damaging	Het
Dgcr8	C	T	16: 18,280,291	G412E	probably damaging	Het
Disp2	C	A	2: 118,791,583	A932D	probably damaging	Het
Dlg4	T	A	11: 70,031,746	N291K	possibly damaging	Het
Dnajc7	A	G	11: 100,601,730	I39T	probably damaging	Het
Eno3	T	C	11: 70,661,470	V316A	probably damaging	Het
Ep400	G	A	5: 110,726,902	T944I	probably benign	Het
Ezh2	T	G	6: 47,552,490		probably null	Het
F7	A	T	8: 13,034,783	I270F	possibly damaging	Het
Fancc	A	G	13: 63,340,432	F245L	probably benign	Het
Fzd7	G	A	1: 59,483,006	C16Y	possibly damaging	Het
Gm29394	A	G	15: 58,028,612	*200Q	probably null	Het
Ikbkap	G	A	4: 56,786,666	Q426*	probably null	Het
Ints8	A	G	4: 11,245,722		probably null	Het
Krt36	A	T	11: 100,102,302	I449N	probably damaging	Het
Ldlr	A	T	9: 21,737,913	H328L	probably damaging	Het
Limk2	T	C	11: 3,353,455	N101S	possibly damaging	Het
Lrp4	A	G	2: 91,476,305	N321S	probably benign	Het
Mafk	T	C	5: 139,800,145	S33P	probably damaging	Het
Mbtps1	T	C	8: 119,518,219	Y831C	probably damaging	Het
Mfge8	T	A	7: 79,134,765	I344F	probably damaging	Het
Myo5b	T	C	18: 74,733,990	V1430A	probably benign	Het
Nbas	G	A	12: 13,558,685	R2154H	probably benign	Het
Nlrp6	G	A	7: 140,923,046	R355H	probably damaging	Het
Noc4l	T	C	5: 110,653,023	T76A	probably benign	Het
Nrp1	T	A	8: 128,476,282	C583S	probably damaging	Het
Olfr1161	T	A	2: 88,025,133	M137K	probably damaging	Het
Olfr1362	C	T	13: 21,611,913	D19N	probably benign	Het
Pgm5	T	A	19: 24,815,749	I318F	probably damaging	Het
Phf1	T	A	17: 26,937,492	V536D	probably damaging	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Rbm47	A	G	5: 66,024,991	I433T	probably benign	Het
S100a3	G	A	3: 90,602,311	E88K	probably benign	Het
Sesn1	A	G	10: 41,811,112	I31V	probably benign	Het
Son	T	A	16: 91,659,718	S1784R	probably damaging	Het
Srbd1	G	T	17: 85,985,437	D901E	probably damaging	Het
St8sia6	C	T	2: 13,672,605	D134N	possibly damaging	Het
Synpo2	T	A	3: 123,114,398	D423V	probably damaging	Het
Vmn2r108	A	G	17: 20,472,121	S158P	probably damaging	Het
Vmn2r109	A	T	17: 20,540,740	V785E	probably damaging	Het
Zfp143	A	G	7: 110,074,068	D124G	probably benign	Het
Zfp251	A	G	15: 76,870,284	L54P	probably damaging	Het
Zfp324	G	T	7: 12,970,643	S253I	possibly damaging	Het
Zfp59	A	G	7: 27,854,134	E337G	possibly damaging	Het
Zfp663	G	T	2: 165,353,517	Q261K	probably benign	Het
Zhx3	T	C	2: 160,781,693		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
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
R9609:Prpf4b	UTSW	13	34884049	missense	unknown
R9710:Prpf4b	UTSW	13	34899887	missense	probably damaging	1.00
RF002:Prpf4b	UTSW	13	34884236	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AGGCTGATCTATAGCTGACTAAAGGGG -3'
(R):5'- CTGGCACACTTCAGTTCTGAGATGG -3'

Sequencing Primer
(F):5'- tgtttttcaagtcaggctttctc -3'
(R):5'- CACACTTCAGTTCTGAGATGGATAGG -3'

Posted On

2014-04-24