Mutagenetix > Incidental Mutation

Incidental Mutation 'R4649:Prpf4b'

350622

Institutional Source

Beutler Lab

Gene Symbol

Prpf4b

Ensembl Gene

ENSMUSG00000021413

Gene Name

pre-mRNA processing factor 4B

Synonyms

Prp4, Prp4k, Prpk

MMRRC Submission

041910-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4649 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34875302-34906064 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 34899971 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 908 (M908L)

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: M908L

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000077019
Gene: ENSMUSG00000021413
AA Change: M908L

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: ENSMUST00000221087

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221156

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221784

Predicted Effect

probably benign
Transcript: ENSMUST00000222509
AA Change: M908L

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222834

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223228

Meta Mutation Damage Score

0.0789

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.4%

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: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,164,546	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,164,547	E685V	possibly damaging	Het
4933409G03Rik	G	A	2: 68,606,215	E168K	unknown	Het
Abca4	G	T	3: 122,169,893	V841F	probably damaging	Het
Adcy10	G	A	1: 165,504,049	E84K	probably damaging	Het
Adgrg6	C	A	10: 14,468,827	M127I	probably damaging	Het
Agpat5	A	G	8: 18,879,652	I266V	possibly damaging	Het
Agtpbp1	A	T	13: 59,528,399	Y186N	possibly damaging	Het
Alx1	A	T	10: 103,009,332	N279K	probably damaging	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
Arsi	A	G	18: 60,917,098	Y351C	probably damaging	Het
B4galnt3	T	A	6: 120,224,620	R155W	probably damaging	Het
BC028528	T	C	3: 95,888,265	E75G	probably damaging	Het
Bmp2k	C	T	5: 97,053,111	P297S	possibly damaging	Het
Btnl4	A	G	17: 34,472,628	S296P	probably benign	Het
Bzw2	A	T	12: 36,123,981	V98E	probably null	Het
Cacna1d	C	T	14: 30,095,408	M1232I	probably benign	Het
Cast	A	G	13: 74,746,014	S171P	probably benign	Het
Catsperb	G	A	12: 101,541,512	A513T	probably benign	Het
Cd19	A	G	7: 126,414,492	S42P	probably benign	Het
Chml	A	G	1: 175,687,396	S138P	probably benign	Het
Clic6	T	G	16: 92,530,939		probably null	Het
Col12a1	A	T	9: 79,639,794	V2252E	probably damaging	Het
Cplx2	G	A	13: 54,379,548	E82K	probably benign	Het
Csmd2	G	A	4: 128,546,073	V3107M	probably benign	Het
Cspg4	T	A	9: 56,886,865	V628D	possibly damaging	Het
Dcaf13	G	A	15: 39,138,242	R315Q	possibly damaging	Het
Deaf1	A	G	7: 141,297,573	V547A	possibly damaging	Het
Dmxl1	C	T	18: 49,878,631	T1285I	probably damaging	Het
Dnah3	C	A	7: 120,047,698	W1036L	probably damaging	Het
Dpy19l1	A	C	9: 24,482,054	S140A	possibly damaging	Het
Dsg2	T	A	18: 20,602,245	D1093E	possibly damaging	Het
Edaradd	T	A	13: 12,508,423	H12L	probably damaging	Het
Enam	T	C	5: 88,492,968	M163T	probably benign	Het
Fbxo22	T	A	9: 55,221,049	V218E	probably damaging	Het
Fbxo34	A	T	14: 47,529,628	K148N	probably damaging	Het
Foxi3	A	G	6: 70,956,976	D149G	probably damaging	Het
Gbp8	C	T	5: 105,041,941	G75D	probably damaging	Het
Gm10784	C	T	13: 49,945,215		noncoding transcript	Het
Gm11127	T	C	17: 36,057,876	Y104C	possibly damaging	Het
Gm7247	G	A	14: 51,569,594		probably null	Het
Grik3	T	A	4: 125,650,485	V333E	probably damaging	Het
Gsap	A	T	5: 21,226,311	D211V	probably damaging	Het
Ino80	T	C	2: 119,431,008	N725S	probably damaging	Het
Itgad	A	G	7: 128,189,531	I443V	probably benign	Het
Itsn1	T	A	16: 91,841,588	I52N	probably damaging	Het
Kmt2b	TCTCCTCCTCCTCCTCCTCCTCCTCC	TCTCCTCCTCCTCCTCCTCCTCC	7: 30,586,358		probably benign	Het
Lamc1	T	G	1: 153,228,777	S59R	probably damaging	Het
Lrrk1	T	C	7: 66,273,053	I1366V	probably benign	Het
Lyn	C	A	4: 3,738,850	Q41K	probably benign	Het
Mapk13	C	T	17: 28,778,487	R360*	probably null	Het
Mapk8ip3	T	A	17: 24,904,752	I599F	probably damaging	Het
Me1	T	C	9: 86,679,852	K60R	probably benign	Het
Mga	T	A	2: 119,941,493	D1532E	possibly damaging	Het
Miga1	G	A	3: 152,279,005	S427L	probably benign	Het
Mknk2	A	T	10: 80,669,339	V186E	probably damaging	Het
Myo1a	C	A	10: 127,710,217	N236K	probably benign	Het
Myt1	A	G	2: 181,797,414	D243G	probably benign	Het
Ncf4	T	C	15: 78,255,989	V196A	possibly damaging	Het
Nlrp5	G	T	7: 23,418,178	L442F	probably damaging	Het
Olfm4	G	A	14: 80,021,307	D332N	probably benign	Het
Olfr1254	C	A	2: 89,789,293	V20F	probably benign	Het
Olfr32	T	A	2: 90,139,088	D17V	probably damaging	Het
Osbpl11	T	A	16: 33,196,082	M69K	probably benign	Het
Oxnad1	T	A	14: 32,102,409	*312K	probably null	Het
Plekhg1	A	G	10: 3,956,985	Q634R	probably benign	Het
Plekhh2	T	C	17: 84,575,263	Y733H	probably damaging	Het
Ppp1r21	A	G	17: 88,549,513	H132R	probably benign	Het
Prkcq	T	C	2: 11,279,522	V501A	possibly damaging	Het
Prpf38b	G	A	3: 108,904,092		probably benign	Het
Prps2	T	C	X: 167,352,292	D183G	probably damaging	Het
Pudp	T	C	18: 50,568,188	D158G	probably damaging	Het
R3hdm1	T	C	1: 128,184,444	S422P	probably damaging	Het
Ranbp3	T	A	17: 56,696,640		probably null	Het
Ranbp6	A	G	19: 29,810,321	V877A	probably benign	Het
Rgsl1	A	T	1: 153,817,582	S618T	probably benign	Het
Rhox2a	G	C	X: 37,245,309	R43P	probably benign	Het
Rhox2a	A	T	X: 37,245,362	I61L	probably benign	Het
Rnf207	A	C	4: 152,312,155	D466E	probably benign	Het
Rnf7	A	G	9: 96,471,830	I80T	probably benign	Het
Ros1	T	A	10: 52,129,668	I878F	possibly damaging	Het
Rsbn1	T	A	3: 103,953,780		probably null	Het
Sbk1	T	C	7: 126,291,129	S105P	probably damaging	Het
Sdk1	T	C	5: 142,006,625	Y790H	probably damaging	Het
Sec62	T	A	3: 30,810,534	N182K	unknown	Het
Slc15a1	T	C	14: 121,478,092	Y345C	probably damaging	Het
Slc27a1	G	A	8: 71,570,764	A15T	probably benign	Het
Slc35d1	A	G	4: 103,213,229	F110L	probably damaging	Het
Slc39a5	T	A	10: 128,397,267	S333C	probably benign	Het
Tarbp1	A	G	8: 126,447,195	S927P	probably damaging	Het
Tns1	A	G	1: 73,953,771	S583P	probably damaging	Het
Trim38	A	T	13: 23,782,969	D133V	probably damaging	Het
Trim40	T	C	17: 36,882,639		probably null	Het
Trim42	C	A	9: 97,362,945	V601L	probably benign	Het
Trpc7	G	A	13: 56,887,554	R189C	probably damaging	Het
Ttc29	A	T	8: 78,333,579	Y376F	probably benign	Het
Vmn2r63	A	G	7: 42,903,690	I714T	possibly damaging	Het
Vmn2r68	C	A	7: 85,221,535	A847S	probably benign	Het
Wdr63	A	G	3: 146,048,167	S713P	probably damaging	Het
Zbp1	G	A	2: 173,207,815	P385S	possibly damaging	Het
Zfat	A	G	15: 68,184,476	Y237H	probably damaging	Het
Zfp236	A	T	18: 82,597,659	W1840R	probably damaging	Het
Zfp426	G	T	9: 20,470,627	Q341K	possibly damaging	Het
Zfp462	T	A	4: 55,009,349	N438K	probably benign	Het
Zfp952	T	A	17: 33,002,925	V88E	probably damaging	Het
Znfx1	G	T	2: 167,056,356	A216D	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
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
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'- TAAGGAGTCGCTCATTCTTATCC -3'
(R):5'- AATGTGCAGCTCTGTCCATC -3'

Sequencing Primer
(F):5'- AGGAGTCGCTCATTCTTATCCTCATG -3'
(R):5'- TACACAGCTGCATTCTTTCTCACTG -3'

Posted On

2015-10-08