Mutagenetix > Incidental Mutation

Incidental Mutation 'R5981:Prpf4b'

481423

Institutional Source

Beutler Lab

Gene Symbol

Prpf4b

Ensembl Gene

ENSMUSG00000021413

Gene Name

pre-mRNA processing factor 4B

Synonyms

Prpk, Prp4k, Prp4

MMRRC Submission

043250-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5981 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

35059285-35090047 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 35070693 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 427 (S427P)

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: S427P

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000077019
Gene: ENSMUSG00000021413
AA Change: S427P

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

noncoding transcript
Transcript: ENSMUST00000221639

Predicted Effect

probably benign
Transcript: ENSMUST00000222509
AA Change: S427P

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.5%

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: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm2	T	C	3: 59,659,299 (GRCm39)	Y251H	probably benign	Het
Ccr3	G	A	9: 123,828,820 (GRCm39)	G52S	probably damaging	Het
Cep192	T	C	18: 67,993,661 (GRCm39)	L1992P	probably damaging	Het
Cnot1	T	C	8: 96,515,293 (GRCm39)	K23E	probably damaging	Het
Col12a1	G	A	9: 79,585,788 (GRCm39)	R1224C	probably damaging	Het
Cox7c	A	T	13: 86,194,780 (GRCm39)	S5R	possibly damaging	Het
Eps8	A	G	6: 137,459,208 (GRCm39)	V765A	probably damaging	Het
Frg1	T	C	8: 41,863,307 (GRCm39)	D104G	possibly damaging	Het
Gm11032	T	C	11: 4,571,697 (GRCm39)	V34A	probably benign	Het
Hid1	G	A	11: 115,241,774 (GRCm39)	T612I	possibly damaging	Het
Hivep1	C	T	13: 42,313,664 (GRCm39)	T1968I	probably damaging	Het
Mctp1	A	G	13: 76,905,229 (GRCm39)	D444G	probably damaging	Het
Ms4a1	T	C	19: 11,229,180 (GRCm39)	E242G	probably benign	Het
Mx1	T	C	16: 97,255,405 (GRCm39)	D216G	probably damaging	Het
Panx3	A	G	9: 37,580,177 (GRCm39)	S59P	possibly damaging	Het
Pcdhgb1	A	G	18: 37,814,907 (GRCm39)	D466G	probably damaging	Het
Plg	T	C	17: 12,597,605 (GRCm39)		probably null	Het
Rbm44	T	C	1: 91,080,411 (GRCm39)	S166P	possibly damaging	Het
Recql	A	G	6: 142,318,604 (GRCm39)	L213P	probably damaging	Het
Rwdd1	A	G	10: 33,885,081 (GRCm39)	Y60H	probably damaging	Het
Sult1b1	A	C	5: 87,682,816 (GRCm39)	I43R	probably damaging	Het
Trak2	A	T	1: 58,947,849 (GRCm39)	V597E	probably benign	Het
Usp17lb	T	A	7: 104,490,394 (GRCm39)	I177F	probably damaging	Het
Zfp410	A	G	12: 84,378,414 (GRCm39)	E193G	probably benign	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
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
R7133:Prpf4b	UTSW	13	35,085,477 (GRCm39)	missense	probably benign	0.02
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'- CACCATAATGCTAATGGGGTCATC -3'
(R):5'- CTTAAGTTTCCAAATGAGCCAAAGG -3'

Sequencing Primer
(F):5'- ATGGGGTCATCTGACTTTAAATAGTG -3'
(R):5'- CCAAAGGCTAAGGAATGGAGGAGAC -3'

Posted On

2017-06-26