Mutagenetix > Incidental Mutation

Incidental Mutation 'R3953:Cpsf3'

308065

Institutional Source

Beutler Lab

Gene Symbol

Cpsf3

Ensembl Gene

ENSMUSG00000054309

Gene Name

cleavage and polyadenylation specificity factor 3

Synonyms

73 kDa

MMRRC Submission

040830-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.971) question?

Stock #

R3953 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21336274-21365057 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21363806 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 632 (D632G)

Ref Sequence

ENSEMBL: ENSMUSP00000068148 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067284] [ENSMUST00000076813] [ENSMUST00000221693] [ENSMUST00000223345]

AlphaFold

Q9QXK7

Predicted Effect

probably benign
Transcript: ENSMUST00000067284
AA Change: D632G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000068148
Gene: ENSMUSG00000054309
AA Change: D632G

Domain	Start	End	E-Value	Type
Lactamase_B	24	234	8.27e-12	SMART
Beta-Casp	246	367	7.32e-45	SMART
Pfam:RMMBL	380	422	9.9e-17	PFAM
CPSF73-100_C	477	683	6.78e-81	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000076813

SMART Domains

Protein: ENSMUSP00000076090
Gene: ENSMUSG00000062054

Domain	Start	End	E-Value	Type
Pfam:Lipase_GDSL	18	213	1.3e-34	PFAM
Pfam:Lipase_GDSL_2	19	209	2.8e-27	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220665

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220940

Predicted Effect

probably benign
Transcript: ENSMUST00000221042

Predicted Effect

probably benign
Transcript: ENSMUST00000221693

Predicted Effect

probably benign
Transcript: ENSMUST00000222344

Predicted Effect

probably benign
Transcript: ENSMUST00000223345

Meta Mutation Damage Score

0.0971

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.5%

Validation Efficiency

100% (61/61)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the metallo-beta-lactamase family. The encoded protein is a 73kDa subunit of the cleavage and polyadenylation specificity factor and functions as an endonuclease that recognizes the pre-mRNA 3'-cleavage site AAUAAA prior to polyadenylation. It also cleaves after the pre-mRNA sequence ACCCA during histone 3'-end pre-mRNA processing. [provided by RefSeq, Oct 2012]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam2	G	A	14: 66,295,059 (GRCm39)	S262L	probably damaging	Het
Adgrf1	A	G	17: 43,621,098 (GRCm39)	N445S	probably benign	Het
Aldh7a1	C	A	18: 56,681,577 (GRCm39)	V198L	probably damaging	Het
Ank2	A	T	3: 126,781,809 (GRCm39)	D6E	probably damaging	Het
Arhgap31	A	G	16: 38,423,826 (GRCm39)	F747L	probably benign	Het
B4galt3	C	A	1: 171,101,613 (GRCm39)	H196N	probably damaging	Het
Cadps	T	C	14: 12,505,937 (GRCm38)	D711G	probably damaging	Het
Clspn	ACGGCGGCGGC	A	4: 126,460,230 (GRCm39)		probably null	Het
Cyp4f18	C	T	8: 72,754,801 (GRCm39)	R148H	probably damaging	Het
Dennd4a	C	A	9: 64,759,857 (GRCm39)	P321T	probably damaging	Het
Dennd5a	A	G	7: 109,504,906 (GRCm39)	M868T	probably benign	Het
Dipk1b	C	T	2: 26,525,579 (GRCm39)	P171L	probably benign	Het
Dnah2	G	A	11: 69,344,929 (GRCm39)	T2715M	probably damaging	Het
Evc2	T	C	5: 37,537,931 (GRCm39)		probably null	Het
Fkbp8	T	G	8: 70,987,517 (GRCm39)	S376A	probably damaging	Het
Gucy1a2	T	C	9: 3,582,704 (GRCm39)		probably benign	Het
Gys1	C	T	7: 45,089,470 (GRCm39)	P274S	probably damaging	Het
Hbq1a	T	C	11: 32,250,214 (GRCm39)		probably null	Het
Herc1	C	T	9: 66,341,075 (GRCm39)	Q1731*	probably null	Het
Igfn1	A	G	1: 135,894,918 (GRCm39)	Y1883H	possibly damaging	Het
Lmf1	G	A	17: 25,873,445 (GRCm39)	V317M	probably damaging	Het
Lnx1	T	C	5: 74,766,750 (GRCm39)	T455A	probably benign	Het
Mast2	A	T	4: 116,170,926 (GRCm39)	H612Q	probably damaging	Het
Mcm9	G	A	10: 53,439,440 (GRCm39)	H578Y	probably damaging	Het
Mefv	A	G	16: 3,533,264 (GRCm39)	S336P	possibly damaging	Het
Micu1	A	T	10: 59,586,326 (GRCm39)	H134L	probably benign	Het
Mrgprb2	C	T	7: 48,202,116 (GRCm39)	G203D	possibly damaging	Het
Ncapd2	T	C	6: 125,147,697 (GRCm39)	I1179V	probably damaging	Het
Nek7	C	A	1: 138,462,127 (GRCm39)	C79F	probably damaging	Het
Nup210l	A	T	3: 90,100,361 (GRCm39)	R1462S	possibly damaging	Het
Or14j6	A	T	17: 38,214,500 (GRCm39)	H21L	probably benign	Het
Or51f1	A	G	7: 102,505,824 (GRCm39)	C222R	probably damaging	Het
Or5al1	A	G	2: 85,990,282 (GRCm39)	V144A	probably benign	Het
Or5b119	G	A	19: 13,456,806 (GRCm39)	S252L	probably benign	Het
Pcnx3	A	G	19: 5,733,808 (GRCm39)		probably benign	Het
Pi4ka	A	G	16: 17,103,145 (GRCm39)		probably benign	Het
Ptgir	A	G	7: 16,640,794 (GRCm39)	M29V	possibly damaging	Het
Ptprb	A	G	10: 116,177,399 (GRCm39)	N1320S	probably benign	Het
Ralgapa2	C	T	2: 146,277,884 (GRCm39)	V426I	probably damaging	Het
Rhobtb2	T	C	14: 70,031,488 (GRCm39)	T546A	possibly damaging	Het
Robo1	A	G	16: 72,821,226 (GRCm39)	D1331G	probably damaging	Het
Sgcz	A	G	8: 37,993,346 (GRCm39)		probably benign	Het
Slc26a1	T	C	5: 108,821,448 (GRCm39)	D147G	possibly damaging	Het
Slc44a5	A	G	3: 153,877,209 (GRCm39)	D13G	probably benign	Het
Slco1a1	A	T	6: 141,868,833 (GRCm39)	M377K	probably damaging	Het
St18	T	A	1: 6,873,117 (GRCm39)	L284Q	probably damaging	Het
Tbc1d9	C	T	8: 83,960,161 (GRCm39)	T138I	probably damaging	Het
Tec	T	C	5: 72,939,520 (GRCm39)		probably null	Het
Tln2	G	A	9: 67,277,911 (GRCm39)	P368S	probably damaging	Het
Tmem131l	C	A	3: 83,817,726 (GRCm39)	C1257F	probably damaging	Het
Tmf1	C	A	6: 97,153,167 (GRCm39)	R302L	probably damaging	Het
Tnip3	A	T	6: 65,574,379 (GRCm39)	T137S	possibly damaging	Het
Trim30d	C	T	7: 104,121,728 (GRCm39)	G339D	probably damaging	Het
Tspan32	T	A	7: 142,560,735 (GRCm39)	M61K	probably damaging	Het
Ttc6	T	C	12: 57,744,238 (GRCm39)	V1290A	probably benign	Het
Ttn	A	G	2: 76,799,593 (GRCm39)	V429A	possibly damaging	Het
Vmn2r95	T	A	17: 18,660,358 (GRCm39)	Y257N	possibly damaging	Het
Vps13d	A	G	4: 144,875,450 (GRCm39)	S1686P	probably damaging	Het
Wdr41	A	G	13: 95,133,571 (GRCm39)	E75G	probably damaging	Het

Other mutations in Cpsf3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02039:Cpsf3	APN	12	21,351,457 (GRCm39)	missense	probably damaging	1.00
IGL02192:Cpsf3	APN	12	21,360,197 (GRCm39)	critical splice acceptor site	probably null
IGL02192:Cpsf3	APN	12	21,360,194 (GRCm39)	unclassified	probably benign
IGL02651:Cpsf3	APN	12	21,343,298 (GRCm39)	missense	probably damaging	1.00
IGL02963:Cpsf3	APN	12	21,352,423 (GRCm39)	missense	probably damaging	0.99
IGL03072:Cpsf3	APN	12	21,345,089 (GRCm39)	missense	possibly damaging	0.83
IGL03307:Cpsf3	APN	12	21,346,715 (GRCm39)	missense	possibly damaging	0.87
IGL03335:Cpsf3	APN	12	21,356,888 (GRCm39)	splice site	probably null
R0419:Cpsf3	UTSW	12	21,347,800 (GRCm39)	missense	probably damaging	1.00
R0441:Cpsf3	UTSW	12	21,350,085 (GRCm39)	missense	probably damaging	1.00
R1669:Cpsf3	UTSW	12	21,355,332 (GRCm39)	missense	probably damaging	1.00
R1797:Cpsf3	UTSW	12	21,356,851 (GRCm39)	missense	probably benign	0.01
R1801:Cpsf3	UTSW	12	21,363,791 (GRCm39)	missense	probably benign	0.01
R1860:Cpsf3	UTSW	12	21,346,733 (GRCm39)	missense	probably damaging	1.00
R3782:Cpsf3	UTSW	12	21,350,067 (GRCm39)	missense	possibly damaging	0.83
R3954:Cpsf3	UTSW	12	21,363,806 (GRCm39)	missense	probably benign
R3955:Cpsf3	UTSW	12	21,363,806 (GRCm39)	missense	probably benign
R3957:Cpsf3	UTSW	12	21,363,806 (GRCm39)	missense	probably benign
R4922:Cpsf3	UTSW	12	21,351,538 (GRCm39)	missense	probably damaging	1.00
R5112:Cpsf3	UTSW	12	21,341,785 (GRCm39)	missense	probably benign
R5363:Cpsf3	UTSW	12	21,358,986 (GRCm39)	missense	probably benign	0.00
R5507:Cpsf3	UTSW	12	21,347,929 (GRCm39)	missense	probably damaging	1.00
R6090:Cpsf3	UTSW	12	21,345,194 (GRCm39)	missense	probably damaging	0.99
R6144:Cpsf3	UTSW	12	21,356,887 (GRCm39)	splice site	probably null
R6238:Cpsf3	UTSW	12	21,350,163 (GRCm39)	missense	probably damaging	1.00
R7229:Cpsf3	UTSW	12	21,346,738 (GRCm39)	critical splice donor site	probably null
R7974:Cpsf3	UTSW	12	21,358,006 (GRCm39)	missense	probably damaging	1.00
R8175:Cpsf3	UTSW	12	21,350,178 (GRCm39)	missense	probably benign	0.07
R8914:Cpsf3	UTSW	12	21,345,112 (GRCm39)	missense	probably damaging	1.00
R9087:Cpsf3	UTSW	12	21,358,995 (GRCm39)	missense	probably damaging	1.00
R9149:Cpsf3	UTSW	12	21,356,844 (GRCm39)	missense	possibly damaging	0.64
R9301:Cpsf3	UTSW	12	21,350,112 (GRCm39)	missense	possibly damaging	0.93
R9378:Cpsf3	UTSW	12	21,358,039 (GRCm39)	missense	possibly damaging	0.95
R9476:Cpsf3	UTSW	12	21,350,080 (GRCm39)	missense	probably damaging	1.00
X0060:Cpsf3	UTSW	12	21,352,393 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ACCAGTACAGCACTCTCGTG -3'
(R):5'- CCAAGGCTTCGTTCCACTAAGG -3'

Sequencing Primer
(F):5'- TACAGCACTCTCGTGGGTCG -3'
(R):5'- TCGTTCCACTAAGGCACTCAC -3'

Posted On

2015-04-17