Mutagenetix > Incidental Mutations

Incidental Mutation 'R8298:Prpf4b'

639099

Institutional Source

Beutler Lab

Gene Symbol

Prpf4b

Ensembl Gene

ENSMUSG00000021413

Gene Name

pre-mRNA processing factor 4B

Synonyms

Prp4, Prp4k, Prpk

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R8298 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34875302-34906064 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34888183 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 491 (H491R)

Ref Sequence

ENSEMBL: ENSMUSP00000077019 (fasta)

Gene Model

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

AlphaFold

Q61136

Predicted Effect

unknown
Transcript: ENSMUST00000077853
AA Change: H491R

SMART Domains

Protein: ENSMUSP00000077019
Gene: ENSMUSG00000021413
AA Change: H491R

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

97% (62/64)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700024P16Rik	A	C	4: 104,948,831	E369D	probably damaging	Het
4930453N24Rik	A	G	16: 64,766,332	L343P	probably benign	Het
Aak1	T	A	6: 86,925,079	F77I	possibly damaging	Het
Abca3	T	C	17: 24,385,401	L582P	probably damaging	Het
Acat1	A	T	9: 53,594,424	S136R	probably damaging	Het
Adamts2	T	C	11: 50,777,131	F507L	possibly damaging	Het
Adcy3	G	A	12: 4,206,482	A763T	probably damaging	Het
Adgrv1	A	T	13: 81,385,914	C5849*	probably null	Het
Adrb2	A	T	18: 62,178,682	N357K	probably benign	Het
Ak9	A	G	10: 41,389,058	E404G		Het
Akap13	T	C	7: 75,747,804	L2576P	probably damaging	Het
Armcx5	AGACAAAGCTAAAGAGGTCTGTGTCAAATCCAGGGCTGGGGACAAAGCTAAAGAGGTCTGTGTCAAATCCAGGGCTGGGGACAAAGCTA	AGACAAAGCTAAAGAGGTCTGTGTCAAATCCAGGGCTGGGGACAAAGCTA	X: 135,745,704		probably benign	Het
Arv1	A	G	8: 124,728,372	Y108C	probably damaging	Het
Casp8ap2	T	A	4: 32,640,429	H494Q	probably benign	Het
Ccdc88b	A	G	19: 6,850,281	L951P	probably damaging	Het
D830039M14Rik	A	T	10: 61,475,583	M160K	noncoding transcript	Het
Dbf4	A	G	5: 8,412,115		probably benign	Het
Dennd4a	A	G	9: 64,906,875	D1458G	probably benign	Het
Dock10	T	C	1: 80,536,937	K1422R	probably benign	Het
Dyrk3	C	T	1: 131,129,375	D354N	probably damaging	Het
Epha3	T	A	16: 63,566,598	I892F	probably benign	Het
Evi5	G	A	5: 107,816,865	S317L	possibly damaging	Het
Evl	C	T	12: 108,652,973	P76S	probably benign	Het
Gm1000	T	C	12: 104,476,177		probably benign	Het
Gm1979	T	C	5: 26,001,150	N190S	probably damaging	Het
Gm3633	T	C	14: 42,640,718	E72G		Het
Gm5414	T	C	15: 101,624,170	Y506C	unknown	Het
Gm572	T	A	4: 148,658,093	H96Q	possibly damaging	Het
Gml	T	C	15: 74,813,692	E148G	probably damaging	Het
Got1l1	T	C	8: 27,198,558	D255G	probably benign	Het
Hydin	A	G	8: 110,600,383	N4785D	probably damaging	Het
Kcnk12	A	T	17: 87,797,285	F57Y	probably damaging	Het
Klhdc9	C	A	1: 171,358,861	G336C	probably damaging	Het
Kprp	T	C	3: 92,825,300	T148A	probably damaging	Het
Lama3	G	A	18: 12,525,853	R2022Q	probably benign	Het
Lelp1	A	T	3: 92,135,620	S41T	unknown	Het
Lnx2	A	T	5: 147,024,517	M535K	probably benign	Het
Mmp9	T	A	2: 164,950,359	F294L	probably null	Het
Myo7a	T	C	7: 98,098,334	Y97C	probably damaging	Het
Nav2	T	C	7: 49,554,261		probably null	Het
Ndufaf3	T	C	9: 108,566,921	T3A	probably benign	Het
Nrxn1	A	G	17: 90,704,169	I344T	probably damaging	Het
Olfr1020	T	C	2: 85,850,189	S246P	probably damaging	Het
Olfr1137	A	T	2: 87,711,032	S291R	probably damaging	Het
Olfr3	T	C	2: 36,813,026	E22G	probably benign	Het
Pccb	T	C	9: 100,985,832	D384G	probably damaging	Het
Plekhg3	C	T	12: 76,577,078	H1032Y	probably damaging	Het
Ppfia3	A	G	7: 45,360,194	S125P	probably damaging	Het
Prl7a2	T	C	13: 27,661,011	M131V	probably benign	Het
Prmt3	A	G	7: 49,857,438	T517A	probably benign	Het
Rhot1	T	A	11: 80,246,676	C335S	probably benign	Het
Robo1	C	T	16: 72,972,132		probably benign	Het
Samd3	A	T	10: 26,245,570	D195V	probably damaging	Het
Sh3gl2	T	A	4: 85,379,410	D208E	possibly damaging	Het
Spta1	A	T	1: 174,247,387	D2393V	probably damaging	Het
Tgs1	T	C	4: 3,605,840	L785P	probably damaging	Het
Tmem25	C	T	9: 44,798,819		probably benign	Het
Trappc10	A	G	10: 78,202,919	Y780H	probably damaging	Het
Ttn	C	A	2: 76,727,167	W29861L	probably damaging	Het
Usp1	T	A	4: 98,930,899	D199E	probably damaging	Het
Vmn2r40	A	G	7: 8,908,149	I715T		Het
Zfp169	G	A	13: 48,498,377	Q68*	probably null	Het
Zfp418	T	A	7: 7,182,815	Y592*	probably null	Het
Zfp712	A	G	13: 67,040,912	V517A	probably benign	Het
Zfp934	A	T	13: 62,518,481	H146Q		Het
Zgrf1	T	C	3: 127,615,229	S1662P	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
R8241:Prpf4b	UTSW	13	34895991	missense	probably damaging	1.00
RF002:Prpf4b	UTSW	13	34884236	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TTGAGCATTGAGTTCAAAGTCACC -3'
(R):5'- GCACAGAAGGTTCGCTTTTAAATTCAG -3'

Sequencing Primer
(F):5'- AGTTCAAAGTCACCTTTTATTCTTCC -3'
(R):5'- CAGGTATTCACTAATGACAGTTAGGC -3'

Posted On

2020-07-28