Mutagenetix > Incidental Mutation

Incidental Mutation 'R7133:Prpf4b'

552849

Institutional Source

Beutler Lab

Gene Symbol

Prpf4b

Ensembl Gene

ENSMUSG00000021413

Gene Name

pre-mRNA processing factor 4B

Synonyms

Prpk, Prp4k, Prp4

MMRRC Submission

045218-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7133 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35059285-35090047 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 35085477 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 974 (H974Q)

Ref Sequence

ENSEMBL: ENSMUSP00000077019 (fasta)

Gene Model

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

AlphaFold

Q61136

Predicted Effect

probably benign
Transcript: ENSMUST00000077853
AA Change: H974Q

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000077019
Gene: ENSMUSG00000021413
AA Change: H974Q

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

probably benign
Transcript: ENSMUST00000222509
AA Change: H974Q

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (91/93)

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	T	A	10: 78,902,473 (GRCm39)	K614N	probably benign	Het
2610008E11Rik	T	G	10: 78,902,474 (GRCm39)	K614T	probably benign	Het
Ahsa1	T	A	12: 87,317,116 (GRCm39)	S120R	probably benign	Het
Anapc16	G	A	10: 59,832,302 (GRCm39)	T37I	possibly damaging	Het
Arid2	C	A	15: 96,276,756 (GRCm39)	P1606H	probably damaging	Het
Ash1l	TATCTCCTTTTCCAAAAA	TA	3: 88,890,764 (GRCm39)		probably null	Het
Asic1	T	A	15: 99,569,968 (GRCm39)	N96K	probably damaging	Het
Asph	A	T	4: 9,484,575 (GRCm39)	D582E	probably benign	Het
Astn1	A	G	1: 158,400,557 (GRCm39)	D528G	probably damaging	Het
Atp9b	A	G	18: 80,952,871 (GRCm39)	V164A		Het
Cbx6	C	T	15: 79,712,866 (GRCm39)	G187D	possibly damaging	Het
Cct7	A	G	6: 85,443,627 (GRCm39)	T332A	probably benign	Het
Clca4a	A	T	3: 144,667,651 (GRCm39)	L440*	probably null	Het
Crybg2	A	T	4: 133,792,754 (GRCm39)	I130F	probably benign	Het
Crybg3	T	C	16: 59,357,167 (GRCm39)	E798G	probably damaging	Het
Ctnnd2	A	G	15: 30,480,995 (GRCm39)	E81G	possibly damaging	Het
Cwc22	C	T	2: 77,759,822 (GRCm39)	R75H	possibly damaging	Het
Cym	T	G	3: 107,121,530 (GRCm39)	D254A	probably damaging	Het
Dcaf11	T	A	14: 55,806,383 (GRCm39)		probably null	Het
Dctn1	A	T	6: 83,157,026 (GRCm39)		probably null	Het
Dennd5a	C	T	7: 109,495,449 (GRCm39)		probably null	Het
Dmpk	T	A	7: 18,821,232 (GRCm39)	C217S	probably damaging	Het
Dnah1	C	A	14: 31,008,033 (GRCm39)	V2125L	probably benign	Het
Exoc4	G	A	6: 33,415,408 (GRCm39)	A427T	probably benign	Het
Farp2	G	T	1: 93,548,956 (GRCm39)	V1021F	probably damaging	Het
Flg2	T	C	3: 93,127,069 (GRCm39)	S1994P	unknown	Het
Fmnl1	T	C	11: 103,072,610 (GRCm39)		probably null	Het
Frem2	T	A	3: 53,479,760 (GRCm39)	I1978F	possibly damaging	Het
Gan	T	A	8: 117,913,969 (GRCm39)	C122*	probably null	Het
Gpr25	T	A	1: 136,188,559 (GRCm39)	Y18F	probably damaging	Het
Hoxa7	C	T	6: 52,192,720 (GRCm39)	E223K	probably benign	Het
Hypk	A	G	2: 121,283,961 (GRCm39)		probably null	Het
Ibsp	A	T	5: 104,450,172 (GRCm39)	K27*	probably null	Het
Ighv6-5	T	A	12: 114,380,395 (GRCm39)	T41S	probably benign	Het
Ighv9-4	T	C	12: 114,263,757 (GRCm39)	M59V	probably benign	Het
Il17rb	T	C	14: 29,718,828 (GRCm39)	D418G	probably damaging	Het
Ints5	T	A	19: 8,872,923 (GRCm39)	V294E	probably damaging	Het
Irx6	G	A	8: 93,405,041 (GRCm39)	C303Y	probably damaging	Het
Itih3	T	A	14: 30,639,655 (GRCm39)	I389F	probably damaging	Het
Lama1	C	T	17: 68,089,141 (GRCm39)	T1604I		Het
Lama3	C	A	18: 12,672,843 (GRCm39)	Q873K	probably benign	Het
Lhx1	T	G	11: 84,410,746 (GRCm39)	S284R	probably benign	Het
Lrba	T	A	3: 86,302,238 (GRCm39)		probably null	Het
Lrg1	C	T	17: 56,427,592 (GRCm39)	G127R	possibly damaging	Het
Macir	G	A	1: 97,573,645 (GRCm39)	P140L	probably benign	Het
Mapre1	T	A	2: 153,606,883 (GRCm39)	L205H	probably benign	Het
Meltf	A	G	16: 31,711,617 (GRCm39)	N581S	probably damaging	Het
Mgat5	A	C	1: 127,292,926 (GRCm39)	M149L	probably benign	Het
Myh1	A	G	11: 67,093,412 (GRCm39)	T168A	probably benign	Het
Naalad2	C	T	9: 18,238,673 (GRCm39)	V681I	probably benign	Het
Or51e2	A	G	7: 102,391,524 (GRCm39)	S229P	probably damaging	Het
Or52r1c	T	A	7: 102,735,205 (GRCm39)	L155Q	probably damaging	Het
Pcnx2	T	C	8: 126,528,243 (GRCm39)	T1326A	probably benign	Het
Peg3	A	T	7: 6,711,944 (GRCm39)	C1093S	probably damaging	Het
Pidd1	T	C	7: 141,019,813 (GRCm39)	S650G	probably benign	Het
Pik3c2b	T	C	1: 133,017,972 (GRCm39)	S945P	possibly damaging	Het
Plec	T	C	15: 76,060,227 (GRCm39)	T3237A	possibly damaging	Het
Prpf3	A	T	3: 95,741,052 (GRCm39)		probably null	Het
Ptpn3	T	C	4: 57,225,863 (GRCm39)	T451A	probably benign	Het
Ptprs	A	G	17: 56,724,429 (GRCm39)	Y1577H	probably damaging	Het
Rgr	C	T	14: 36,770,882 (GRCm39)	M1I	probably null	Het
Rxrg	A	T	1: 167,458,678 (GRCm39)	N257I	probably benign	Het
Sbno2	T	C	10: 79,922,146 (GRCm39)	D9G	probably damaging	Het
Scd1	T	C	19: 44,395,034 (GRCm39)	K64E	probably damaging	Het
Serpinb1a	T	A	13: 33,034,308 (GRCm39)	I28F	possibly damaging	Het
Sfmbt2	A	T	2: 10,406,818 (GRCm39)	E39V	probably damaging	Het
Slc29a1	A	G	17: 45,900,897 (GRCm39)	M89T	possibly damaging	Het
Slco4a1	T	A	2: 180,113,856 (GRCm39)	V431E	possibly damaging	Het
Smg1	C	T	7: 117,752,131 (GRCm39)	C2698Y	unknown	Het
Sptlc2	C	T	12: 87,397,151 (GRCm39)	D212N	probably benign	Het
St6galnac1	T	C	11: 116,657,899 (GRCm39)	T334A	possibly damaging	Het
Stim2	A	T	5: 54,156,263 (GRCm39)	D13V	possibly damaging	Het
Syne1	A	G	10: 5,181,592 (GRCm39)	W4248R	probably damaging	Het
Tanc1	T	C	2: 59,627,953 (GRCm39)	Y584H	probably benign	Het
Thoc6	C	A	17: 23,892,634 (GRCm39)		probably null	Het
Trim30a	T	A	7: 104,078,533 (GRCm39)	N181I	possibly damaging	Het
Trip11	T	A	12: 101,850,329 (GRCm39)	Q1245L	probably damaging	Het
Tshz3	A	G	7: 36,469,994 (GRCm39)	D661G	probably benign	Het
Ttll8	C	A	15: 88,799,630 (GRCm39)	V604L	probably damaging	Het
Ubtfl1	A	G	9: 18,320,931 (GRCm39)	D153G	probably damaging	Het
Ufsp2	C	A	8: 46,436,661 (GRCm39)	N137K	probably benign	Het
Ugt2a3	A	G	5: 87,473,393 (GRCm39)	I508T	possibly damaging	Het
Uso1	G	A	5: 92,306,324 (GRCm39)	E94K	probably benign	Het
Usp54	A	G	14: 20,611,310 (GRCm39)	S1169P	probably benign	Het
Vmn1r235	C	T	17: 21,482,292 (GRCm39)	P206S	probably benign	Het
Vmn1r69	T	C	7: 10,314,995 (GRCm39)		probably benign	Het
Zfp263	T	A	16: 3,567,255 (GRCm39)	C523*	probably null	Het
Zfp799	G	T	17: 33,039,210 (GRCm39)	T352K	probably benign	Het
Zfr	T	A	15: 12,180,724 (GRCm39)	V951E	probably damaging	Het
Zfyve26	T	C	12: 79,330,926 (GRCm39)	D431G	probably benign	Het
Zswim9	C	A	7: 12,993,664 (GRCm39)	A831S	probably damaging	Het

Other mutations in Prpf4b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00332:Prpf4b	APN	13	35,067,890 (GRCm39)	missense	probably benign	0.23
IGL00639:Prpf4b	APN	13	35,083,156 (GRCm39)	missense	possibly damaging	0.70
IGL00901:Prpf4b	APN	13	35,078,465 (GRCm39)	missense	probably damaging	1.00
IGL01301:Prpf4b	APN	13	35,068,274 (GRCm39)	missense	probably benign	0.23
IGL02027:Prpf4b	APN	13	35,073,554 (GRCm39)	missense	probably benign	0.35
IGL02111:Prpf4b	APN	13	35,067,944 (GRCm39)	missense	probably benign	0.23
IGL02256:Prpf4b	APN	13	35,083,861 (GRCm39)	missense	probably damaging	0.98
IGL02590:Prpf4b	APN	13	35,072,129 (GRCm39)	unclassified	probably benign
IGL03389:Prpf4b	APN	13	35,084,439 (GRCm39)	splice site	probably benign
IGL03411:Prpf4b	APN	13	35,079,342 (GRCm39)	missense	probably damaging	1.00
ANU18:Prpf4b	UTSW	13	35,068,274 (GRCm39)	missense	probably benign	0.23
PIT4260001:Prpf4b	UTSW	13	35,068,274 (GRCm39)	missense	probably benign	0.23
PIT4696001:Prpf4b	UTSW	13	35,083,825 (GRCm39)	missense	probably benign	0.01
R0114:Prpf4b	UTSW	13	35,074,471 (GRCm39)	splice site	probably benign
R0157:Prpf4b	UTSW	13	35,068,014 (GRCm39)	unclassified	probably benign
R1551:Prpf4b	UTSW	13	35,078,426 (GRCm39)	missense	possibly damaging	0.91
R1587:Prpf4b	UTSW	13	35,076,133 (GRCm39)	missense	probably benign	0.09
R2105:Prpf4b	UTSW	13	35,068,214 (GRCm39)	unclassified	probably benign
R2152:Prpf4b	UTSW	13	35,084,402 (GRCm39)	missense	probably benign	0.04
R2432:Prpf4b	UTSW	13	35,067,324 (GRCm39)	unclassified	probably benign
R3802:Prpf4b	UTSW	13	35,067,665 (GRCm39)	unclassified	probably benign
R3803:Prpf4b	UTSW	13	35,067,665 (GRCm39)	unclassified	probably benign
R3804:Prpf4b	UTSW	13	35,067,665 (GRCm39)	unclassified	probably benign
R3982:Prpf4b	UTSW	13	35,068,196 (GRCm39)	unclassified	probably benign
R4603:Prpf4b	UTSW	13	35,072,147 (GRCm39)	unclassified	probably benign
R4633:Prpf4b	UTSW	13	35,084,425 (GRCm39)	missense	probably damaging	1.00
R4649:Prpf4b	UTSW	13	35,083,954 (GRCm39)	missense	probably benign	0.06
R4651:Prpf4b	UTSW	13	35,083,954 (GRCm39)	missense	probably benign	0.06
R4653:Prpf4b	UTSW	13	35,083,954 (GRCm39)	missense	probably benign	0.06
R5022:Prpf4b	UTSW	13	35,067,582 (GRCm39)	unclassified	probably benign
R5028:Prpf4b	UTSW	13	35,083,958 (GRCm39)	missense	probably damaging	1.00
R5232:Prpf4b	UTSW	13	35,067,573 (GRCm39)	unclassified	probably benign
R5313:Prpf4b	UTSW	13	35,078,532 (GRCm39)	missense	probably damaging	1.00
R5440:Prpf4b	UTSW	13	35,068,076 (GRCm39)	unclassified	probably benign
R5511:Prpf4b	UTSW	13	35,068,037 (GRCm39)	unclassified	probably benign
R5863:Prpf4b	UTSW	13	35,083,111 (GRCm39)	missense	possibly damaging	0.51
R5981:Prpf4b	UTSW	13	35,070,693 (GRCm39)	missense	probably benign	0.23
R6360:Prpf4b	UTSW	13	35,085,416 (GRCm39)	missense	probably damaging	0.99
R6398:Prpf4b	UTSW	13	35,084,354 (GRCm39)	missense	probably damaging	1.00
R6556:Prpf4b	UTSW	13	35,080,015 (GRCm39)	missense	probably damaging	0.98
R6880:Prpf4b	UTSW	13	35,078,436 (GRCm39)	missense	possibly damaging	0.69
R7148:Prpf4b	UTSW	13	35,078,455 (GRCm39)	missense	probably benign	0.04
R7208:Prpf4b	UTSW	13	35,067,994 (GRCm39)	missense	unknown
R7966:Prpf4b	UTSW	13	35,085,428 (GRCm39)	missense	probably damaging	0.96
R8241:Prpf4b	UTSW	13	35,079,974 (GRCm39)	missense	probably damaging	1.00
R8298:Prpf4b	UTSW	13	35,072,166 (GRCm39)	missense	unknown
R9609:Prpf4b	UTSW	13	35,068,032 (GRCm39)	missense	unknown
R9710:Prpf4b	UTSW	13	35,083,870 (GRCm39)	missense	probably damaging	1.00
RF002:Prpf4b	UTSW	13	35,068,219 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GATTCTCTTTGAAAAGATGTGGAGG -3'
(R):5'- TGCTTCCTCAAATTTGCTGCAG -3'

Sequencing Primer
(F):5'- CTTTGAAAAGATGTGGAGGTTAAAAC -3'
(R):5'- ACCCTTGGAGTTTCTTCATC -3'

Posted On

2019-05-15