Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02111:Prpf4b'

280159

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Prpf4b

Ensembl Gene

ENSMUSG00000021413

Gene Name

pre-mRNA processing factor 4B

Synonyms

Prp4, Prp4k, Prpk

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02111

Quality Score

Status

Chromosome

Chromosomal Location

34875302-34906064 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 34883961 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 258 (S258T)

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: S258T

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

SMART Domains

Protein: ENSMUSP00000077019
Gene: ENSMUSG00000021413
AA Change: S258T

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: S258T

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

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530077C05Rik	T	C	9: 22,424,179	I31T	probably benign	Het
Adgrg3	G	A	8: 95,034,999	R130Q	probably damaging	Het
Adipor2	A	T	6: 119,370,196	L42*	probably null	Het
Ankrd45	A	G	1: 161,163,351	K259E	probably damaging	Het
Apoc3	T	C	9: 46,234,474	K79R	possibly damaging	Het
Arhgap40	T	C	2: 158,539,844	Y416H	probably damaging	Het
Armc5	A	G	7: 128,244,083	T683A	probably benign	Het
Bora	T	C	14: 99,047,377	V21A	probably damaging	Het
Cacna1b	C	T	2: 24,606,991	S2189N	probably damaging	Het
Cct2	G	A	10: 117,053,112	T57I	probably damaging	Het
Cd200r1	A	T	16: 44,788,781	N34Y	probably damaging	Het
Cd300ld2	T	A	11: 115,012,393		probably benign	Het
Cntnap5a	G	A	1: 116,089,352	R225H	probably benign	Het
Cntnap5c	A	T	17: 58,102,108	D447V	probably damaging	Het
Cpne7	T	C	8: 123,125,653		probably benign	Het
Dap3	G	A	3: 88,929,418	T92I	probably benign	Het
Dnmbp	A	G	19: 43,867,555	L254P	probably damaging	Het
Egfem1	G	A	3: 29,650,896		probably null	Het
Fam120b	T	C	17: 15,402,585	L275P	possibly damaging	Het
Fam161a	A	T	11: 23,020,026	H68L	probably benign	Het
Fam193a	A	G	5: 34,410,657	E100G	possibly damaging	Het
Ftmt	A	T	18: 52,332,053	D147V	possibly damaging	Het
Gm10136	T	C	19: 29,003,722	K41E	probably benign	Het
Gm10797	C	T	10: 67,572,567		noncoding transcript	Het
Hsf1	A	G	15: 76,496,081		probably benign	Het
Ipo8	A	G	6: 148,799,780	V514A	probably damaging	Het
Itfg2	T	C	6: 128,410,381	H422R	probably benign	Het
Lrp4	G	T	2: 91,506,059	L1738F	probably damaging	Het
Mettl17	A	G	14: 51,891,386	E371G	probably damaging	Het
Mfsd6	A	T	1: 52,708,344	L454Q	probably damaging	Het
Myh10	A	T	11: 68,790,112	E956V	probably damaging	Het
Ncoa1	A	T	12: 4,274,944	M1K	probably null	Het
Olfr1163	T	A	2: 88,071,227	N52Y	probably benign	Het
Olfr677	A	G	7: 105,056,945	D233G	probably benign	Het
Olfr709-ps1	A	C	7: 106,926,616	V281G	probably damaging	Het
Otop1	T	A	5: 38,277,701	C89S	probably benign	Het
Pitrm1	G	T	13: 6,573,145	R775L	probably benign	Het
Prpf19	A	G	19: 10,905,094	T512A	probably benign	Het
Rhbdl2	T	C	4: 123,822,837	Y196H	probably damaging	Het
Rnf187	T	C	11: 58,937,180	D148G	probably damaging	Het
Sbds	A	G	5: 130,250,941	I74T	probably damaging	Het
Sec63	T	C	10: 42,810,888	V468A	probably damaging	Het
Slc35b3	A	T	13: 38,955,782	M23K	probably damaging	Het
Slc6a9	A	T	4: 117,864,013	Y208F	probably benign	Het
Slfn8	A	T	11: 83,004,498	L494Q	probably damaging	Het
Sorcs1	T	G	19: 50,230,245	M600L	probably benign	Het
Supt7l	T	C	5: 31,515,678		probably null	Het
Tecrl	T	A	5: 83,354,792	Q70L	probably damaging	Het
Tedc2	A	T	17: 24,218,166		probably benign	Het
Tespa1	A	G	10: 130,355,484	D99G	probably damaging	Het
Tmem126b	G	T	7: 90,469,061	Q204K	probably damaging	Het
Tmem181c-ps	A	T	17: 6,620,367		noncoding transcript	Het
Tmem184a	G	T	5: 139,813,101	T31K	possibly damaging	Het
Tmprss11e	T	A	5: 86,719,801	I137F	possibly damaging	Het
Tmprss13	C	T	9: 45,336,105	T255I	probably damaging	Het
Top1mt	G	A	15: 75,665,706		probably benign	Het
Treh	C	T	9: 44,682,961	T168I	probably benign	Het
Ttn	A	T	2: 76,767,328	I11420N	probably benign	Het
Zp2	T	C	7: 120,132,418	K705E	possibly damaging	Het
Zw10	T	C	9: 49,068,754	I395T	probably damaging	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
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
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
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
RF002:Prpf4b	UTSW	13	34884236	missense	unknown

Posted On

2015-04-16