Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00639:Prpf4b'

13183

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Prpf4b

Ensembl Gene

ENSMUSG00000021413

Gene Name

pre-mRNA processing factor 4B

Synonyms

Prpk, Prp4k, Prp4

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00639

Quality Score

Status

Chromosome

Chromosomal Location

35059285-35090047 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 35083156 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 844 (N844S)

Ref Sequence

ENSEMBL: ENSMUSP00000152654 (fasta)

Gene Model

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

AlphaFold

Q61136

Predicted Effect

possibly damaging
Transcript: ENSMUST00000077853
AA Change: N844S

PolyPhen 2 Score 0.704 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000077019
Gene: ENSMUSG00000021413
AA Change: N844S

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: N347S

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

possibly damaging
Transcript: ENSMUST00000222509
AA Change: N844S

PolyPhen 2 Score 0.704 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222834

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223228

Coding Region Coverage

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: 12 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adipor2	A	T	6: 119,347,129 (GRCm39)	C51*	probably null	Het
Atmin	A	G	8: 117,683,396 (GRCm39)	D352G	probably damaging	Het
Cntln	A	G	4: 84,924,671 (GRCm39)	E592G	probably benign	Het
Crygd	C	T	1: 65,101,250 (GRCm39)	R115Q	probably benign	Het
Il31ra	A	T	13: 112,686,093 (GRCm39)	Y65*	probably null	Het
Megf8	T	C	7: 25,043,109 (GRCm39)	F1344L	possibly damaging	Het
Pcdh18	T	C	3: 49,710,065 (GRCm39)	I417V	probably benign	Het
Stard13	T	C	5: 150,965,704 (GRCm39)	E917G	probably damaging	Het
Tex15	T	C	8: 34,065,339 (GRCm39)	S1590P	probably benign	Het
Thrap3	C	T	4: 126,059,371 (GRCm39)	G892S	probably benign	Het
Vrk1	T	A	12: 106,022,175 (GRCm39)		probably null	Het
Zfp655	A	G	5: 145,180,955 (GRCm39)	Y271C	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
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
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

Posted On

2012-12-06