Mutagenetix > Incidental Mutations

Incidental Mutation 'R1551:Prpf4b'

169942

Institutional Source

Beutler Lab

Gene Symbol

Prpf4b

Ensembl Gene

ENSMUSG00000021413

Gene Name

pre-mRNA processing factor 4B

Synonyms

Prp4, Prp4k, Prpk

MMRRC Submission

039590-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1551 (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 34894443 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 679 (I679F)

Ref Sequence

ENSEMBL: ENSMUSP00000152654 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000077853
AA Change: I679F

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000077019
Gene: ENSMUSG00000021413
AA Change: I679F

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: I182F

Predicted Effect

probably benign
Transcript: ENSMUST00000221077

Predicted Effect

possibly damaging
Transcript: ENSMUST00000222509
AA Change: I679F

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.0%
20x: 83.4%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	G	7: 120,318,878	I1534M	probably benign	Het
Acad11	G	A	9: 104,126,586	A626T	probably damaging	Het
Akap9	T	A	5: 4,069,174	N3560K	probably benign	Het
Aldh3a2	C	T	11: 61,253,644	V363I	probably benign	Het
Anks1b	A	G	10: 90,076,981	T289A	probably benign	Het
Atp11a	A	G	8: 12,812,340	N64S	probably damaging	Het
Atp11c	T	C	X: 60,236,712		probably null	Het
Cd101	T	C	3: 101,012,013	H591R	probably damaging	Het
Cd36	C	T	5: 17,797,122	V294I	probably benign	Het
Cgref1	T	C	5: 30,933,585	E295G	probably benign	Het
Cit	A	G	5: 115,945,842	M787V	probably benign	Het
Clcn6	G	A	4: 148,012,778	P611S	possibly damaging	Het
Clec12a	A	C	6: 129,350,421	M1L	probably damaging	Het
Cmtm6	C	T	9: 114,746,505	R161W	probably damaging	Het
Colec10	G	T	15: 54,462,262	V163L	probably damaging	Het
Coq8b	A	G	7: 27,257,482	Y520C	probably damaging	Het
Ctsll3	C	A	13: 60,801,007	E45*	probably null	Het
Dsg3	A	G	18: 20,536,918	E663G	possibly damaging	Het
Dst	G	A	1: 34,192,212	R2962H	probably benign	Het
Etnk2	T	C	1: 133,373,257	I254T	probably damaging	Het
Fbxo36	T	C	1: 84,881,114	I40T	probably damaging	Het
Fgd2	G	A	17: 29,378,409	V568M	probably damaging	Het
Fmn1	T	C	2: 113,525,862	Y883H	possibly damaging	Het
Fpr-rs4	A	T	17: 18,022,327	T199S	possibly damaging	Het
Gm12789	A	G	4: 101,988,934	K131E	probably benign	Het
Gm17641	C	A	3: 68,870,115		silent	Het
Gm6665	G	T	18: 31,820,287	R43S	probably damaging	Het
Gm7173	C	A	X: 79,488,645	L842F	probably damaging	Het
Gzmc	T	A	14: 56,232,746	H98L	probably damaging	Het
Hecw1	T	A	13: 14,316,943	E75V	probably damaging	Het
Herc2	G	T	7: 56,146,669	V1930L	probably benign	Het
Hsh2d	G	A	8: 72,200,460	D229N	probably benign	Het
Htr6	A	T	4: 139,074,465	C99*	probably null	Het
Lgals2	C	T	15: 78,852,311	M16I	probably benign	Het
Lrrc8c	A	G	5: 105,608,224	N622D	probably damaging	Het
Myo15	A	T	11: 60,492,965	I1613F	possibly damaging	Het
Oacyl	C	T	18: 65,742,209	R455C	probably benign	Het
Olfr1323	T	C	X: 50,009,995	T81A	possibly damaging	Het
Olfr203	T	A	16: 59,303,403	N84K	probably benign	Het
Olfr272	A	T	4: 52,911,397	Y132*	probably null	Het
Orm3	A	G	4: 63,356,909		probably null	Het
Phf2	A	G	13: 48,803,603	L1096P	probably damaging	Het
Phf2	G	C	13: 48,832,103	T67S	unknown	Het
Pigt	T	C	2: 164,507,403	V542A	probably damaging	Het
Pnpla7	T	C	2: 25,047,708	F992L	probably benign	Het
Ppp2r5e	C	G	12: 75,469,567	A239P	probably damaging	Het
Pramef6	A	G	4: 143,895,693	M364T	probably benign	Het
Prmt7	A	G	8: 106,237,382	T303A	probably benign	Het
Psd4	T	A	2: 24,403,280	M719K	probably benign	Het
Ranbp9	A	T	13: 43,425,117	M160K	probably benign	Het
Rfc1	A	G	5: 65,277,363	Y687H	probably damaging	Het
Rimbp2	T	C	5: 128,806,359	K119R	probably damaging	Het
Rnf113a1	T	C	X: 37,191,393	M1T	probably null	Het
Rnf40	A	C	7: 127,596,334	K511Q	possibly damaging	Het
Ryr2	T	A	13: 11,785,143		probably null	Het
Scrib	A	T	15: 76,065,162	V365E	probably damaging	Het
Slc6a17	A	G	3: 107,472,127	V575A	possibly damaging	Het
Spta1	A	G	1: 174,240,166	N2053S	possibly damaging	Het
Ssbp2	G	A	13: 91,642,392		probably null	Het
Stab1	G	T	14: 31,160,499	N460K	probably benign	Het
Tbc1d9	T	A	8: 83,266,158	C964S	probably benign	Het
Tmed11	A	G	5: 108,779,814		probably null	Het
Tmem191c	C	A	16: 17,278,120	R285S	probably damaging	Het
Tpr	T	C	1: 150,436,801	S1917P	probably benign	Het
Vill	A	T	9: 119,063,372	H357L	probably benign	Het
Vmn1r229	A	G	17: 20,814,789	T99A	probably benign	Het
Vmn2r14	A	G	5: 109,221,417	S97P	probably damaging	Het
Wasf2	G	T	4: 133,190,172	R194L	unknown	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
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
RF002:Prpf4b	UTSW	13	34884236	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GCTCCTGTCACATTCTGAGATGACC -3'
(R):5'- GCTGTCAGAGCAGAAGATGGCATTA -3'

Sequencing Primer
(F):5'- GTCACATTCTGAGATGACCATTGG -3'
(R):5'- GGTAGGTACTGAAATGACTTTGAC -3'

Posted On

2014-04-13