Mutagenetix > Incidental Mutation

Incidental Mutation 'R7208:Prpf4b'

560882

Institutional Source

Beutler Lab

Gene Symbol

Prpf4b

Ensembl Gene

ENSMUSG00000021413

Gene Name

pre-mRNA processing factor 4B

Synonyms

Prp4, Prp4k, Prpk

MMRRC Submission

045285-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7208 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34875302-34906064 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 34884011 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 274 (D274E)

Ref Sequence

ENSEMBL: ENSMUSP00000077019 (fasta)

Gene Model

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

AlphaFold

Q61136

Predicted Effect

unknown
Transcript: ENSMUST00000077853
AA Change: D274E

SMART Domains

Protein: ENSMUSP00000077019
Gene: ENSMUSG00000021413
AA Change: D274E

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

unknown
Transcript: ENSMUST00000222509
AA Change: D274E

Meta Mutation Damage Score

0.0578

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.4%

Validation Efficiency

99% (76/77)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110008L16Rik	A	G	12: 55,308,645		probably null	Het
Aass	T	C	6: 23,074,630	K854E	probably damaging	Het
Abcd2	G	T	15: 91,190,682	Y309*	probably null	Het
Ache	G	A	5: 137,291,489	G360D	probably damaging	Het
Acot12	T	C	13: 91,781,242	L396P	probably benign	Het
Acox2	T	G	14: 8,241,303	D603A	probably benign	Het
Adam3	C	A	8: 24,711,401	K245N	probably damaging	Het
Ankhd1	T	C	18: 36,625,028	I925T	probably benign	Het
Arhgap27	C	T	11: 103,360,759	V48M	probably damaging	Het
Atm	A	T	9: 53,512,008		probably null	Het
B4galt4	T	A	16: 38,753,940	F92Y	probably damaging	Het
Brwd1	C	T	16: 96,035,959	R891Q	probably damaging	Het
Calcr	T	C	6: 3,687,612	Q462R	probably benign	Het
Ccdc112	T	C	18: 46,287,631	R351G	probably damaging	Het
Ccdc80	T	G	16: 45,096,710	S610A	probably benign	Het
Cdh20	C	A	1: 104,954,071	N420K	possibly damaging	Het
Cntn3	G	A	6: 102,278,422	R172*	probably null	Het
Ctnnd1	G	T	2: 84,622,046	Q78K	possibly damaging	Het
D16Ertd472e	A	T	16: 78,575,926	L41H	probably damaging	Het
Dclk2	A	T	3: 86,799,602		probably null	Het
Dmwd	C	T	7: 19,080,309	H295Y	probably benign	Het
Dnaic2	T	C	11: 114,757,162	V588A	unknown	Het
Dtx4	C	T	19: 12,482,073		probably null	Het
Dync2h1	C	A	9: 7,141,059	D1323Y	probably damaging	Het
Fcgbp	T	A	7: 28,104,021	H1683Q	probably benign	Het
Fndc3c1	G	C	X: 106,435,073	L724V	possibly damaging	Het
Gm4070	A	C	7: 105,902,179	S555R	possibly damaging	Het
Gm9195	A	G	14: 72,451,752	S1876P	possibly damaging	Het
Grhl2	A	C	15: 37,335,736	K431T	probably damaging	Het
Grm7	T	G	6: 111,358,569	I647S	possibly damaging	Het
Gtf2ird1	T	C	5: 134,411,094	N94S	probably benign	Het
Hmgcs1	G	T	13: 119,701,084	G195W	probably damaging	Het
Hrc	A	T	7: 45,336,565	Y380F	possibly damaging	Het
Kcnu1	C	T	8: 25,919,637	Q863*	probably null	Het
Lemd2	G	A	17: 27,196,191	P300L	probably damaging	Het
Lnpep	A	T	17: 17,552,910	Y665*	probably null	Het
Lrfn1	A	G	7: 28,467,139	T653A	probably benign	Het
Ly6g6c	A	G	17: 35,067,411	T8A	unknown	Het
Mcm5	T	C	8: 75,121,716		probably null	Het
Med28	A	T	5: 45,523,452	D86V	probably damaging	Het
Mup11	A	G	4: 60,659,726	S171P	possibly damaging	Het
Nckap1	A	G	2: 80,540,198	F383L	probably benign	Het
Nid1	G	C	13: 13,468,385	G303R	probably benign	Het
Nkain3	A	G	4: 20,282,892	V147A	probably benign	Het
Olfr361	A	G	2: 37,085,658	V30A	probably benign	Het
Pde9a	G	A	17: 31,420,284	V63I	possibly damaging	Het
Pdlim2	T	A	14: 70,174,377	I69F	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398		probably benign	Het
Phf20l1	T	C	15: 66,604,789	I245T	probably benign	Het
Prmt8	C	T	6: 127,689,829	R394H	possibly damaging	Het
Psmd6	A	T	14: 14,112,225		probably null	Het
Rgs16	T	C	1: 153,741,670	L69P	probably damaging	Het
Robo3	A	T	9: 37,424,724	I482N	probably damaging	Het
Scara3	C	T	14: 65,931,266	V301I	possibly damaging	Het
Serpina1b	T	A	12: 103,728,294	H397L	probably benign	Het
Skint11	T	A	4: 114,231,747	L246Q	probably damaging	Het
Skint5	T	A	4: 113,539,339	R1212S	unknown	Het
Slc11a2	T	C	15: 100,402,332	D348G	probably benign	Het
Slc15a2	T	C	16: 36,756,281	K495E	probably benign	Het
Son	T	G	16: 91,662,102	D2072E	unknown	Het
Stau1	A	G	2: 166,963,574	V34A	probably damaging	Het
Stk3	G	T	15: 35,073,116	L153I	possibly damaging	Het
Swi5	A	T	2: 32,287,910	V13E	probably benign	Het
Syne2	A	T	12: 76,031,398		probably null	Het
Synm	T	C	7: 67,734,915	M558V	probably benign	Het
Tep1	T	A	14: 50,824,556		probably null	Het
Tmc6	A	G	11: 117,776,325	V149A	probably benign	Het
Tmem214	T	A	5: 30,870,721	V95E	possibly damaging	Het
Tnnt2	T	A	1: 135,850,376		probably null	Het
Txlna	A	G	4: 129,631,278		probably null	Het
Vmn2r26	T	C	6: 124,061,989	I841T	probably damaging	Het
Wasf2	G	A	4: 133,195,734	V452I	probably damaging	Het
Wdr62	C	T	7: 30,252,336	D673N	probably damaging	Het
Wdr78	T	G	4: 103,066,352	I427L	probably benign	Het
Wdr95	C	T	5: 149,595,371	T559I	probably benign	Het
Zbtb40	A	T	4: 136,999,626		probably null	Het
Zfat	T	C	15: 68,180,007	E646G	probably benign	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
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
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
R9609:Prpf4b	UTSW	13	34884049	missense	unknown
R9710:Prpf4b	UTSW	13	34899887	missense	probably damaging	1.00
RF002:Prpf4b	UTSW	13	34884236	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GAACGGACCAGGCACAGATC -3'
(R):5'- GCCAGGTCTTCTACTGGGTG -3'

Sequencing Primer
(F):5'- CCAGGCACAGATCGGACAAAAG -3'
(R):5'- TTCCCAGAAGAAGCATCCTTTG -3'

Posted On

2019-06-26