Mutagenetix > Incidental Mutation

Incidental Mutation 'R5363:Cpsf3'

422944

Institutional Source

Beutler Lab

Gene Symbol

Cpsf3

Ensembl Gene

ENSMUSG00000054309

Gene Name

cleavage and polyadenylation specificity factor 3

Synonyms

73 kDa

MMRRC Submission

042941-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.970) question?

Stock #

R5363 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

21285391-21315056 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 21308985 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 562 (M562K)

Ref Sequence

ENSEMBL: ENSMUSP00000068148 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067284] [ENSMUST00000222968]

AlphaFold

Q9QXK7

Predicted Effect

probably benign
Transcript: ENSMUST00000067284
AA Change: M562K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000068148
Gene: ENSMUSG00000054309
AA Change: M562K

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

noncoding transcript
Transcript: ENSMUST00000220665

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220940

Predicted Effect

probably benign
Transcript: ENSMUST00000221042

Predicted Effect

probably benign
Transcript: ENSMUST00000222968

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
8030411F24Rik	G	T	2: 148,783,378	L77F	probably damaging	Het
Abca1	A	G	4: 53,132,963	I40T	probably benign	Het
Abca13	T	C	11: 9,277,035	V597A	possibly damaging	Het
Afg3l2	G	T	18: 67,421,259	L458M	probably damaging	Het
Anapc1	A	G	2: 128,650,194		probably null	Het
Ap4e1	G	A	2: 127,037,864		probably null	Het
Apod	T	C	16: 31,311,091	T16A	probably benign	Het
Arrdc5	C	T	17: 56,300,138	V36M	probably damaging	Het
Bcan	A	G	3: 87,995,487	V328A	probably damaging	Het
Bche	A	G	3: 73,700,639	Y485H	probably damaging	Het
Btbd6	A	G	12: 112,978,136	Y356C	probably damaging	Het
Cdh4	A	G	2: 179,886,763	T555A	probably benign	Het
Ciita	C	T	16: 10,512,167	H769Y	probably damaging	Het
Clspn	A	G	4: 126,561,786	D35G	possibly damaging	Het
Cwc22	ATCTCTCTCTCTCTCTCT	ATCTCTCTCTCTCTCT	2: 77,929,459		probably null	Het
Cyp2a22	T	A	7: 26,936,433	Q235L	probably damaging	Het
Dicer1	A	G	12: 104,703,151	S1091P	probably damaging	Het
Dync1li1	T	A	9: 114,715,229	I323N	probably damaging	Het
Fam196b	G	A	11: 34,402,788	E277K	probably damaging	Het
Fat4	A	G	3: 38,888,005	N349S	probably damaging	Het
Fkbpl	G	A	17: 34,645,329	A24T	probably benign	Het
Hectd4	T	C	5: 121,310,603	M338T	probably benign	Het
Lactb2	A	T	1: 13,630,132	I225N	probably benign	Het
Ltbr	G	A	6: 125,312,794	R146W	probably damaging	Het
Mrps30	A	G	13: 118,387,162	S25P	probably benign	Het
Myg1	T	C	15: 102,337,824	V378A	probably benign	Het
Notch4	C	T	17: 34,587,123	T1731I	probably damaging	Het
Ntmt1	A	G	2: 30,820,648	D121G	probably damaging	Het
Olfr1167	A	T	2: 88,149,802	D72E	probably damaging	Het
Olfr763	C	A	10: 129,011,914	P210T	probably damaging	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Pclo	A	G	5: 14,669,410	D1187G	unknown	Het
Pkd1	T	A	17: 24,565,073	Y198N	probably benign	Het
Plk4	T	A	3: 40,801,984	N83K	possibly damaging	Het
Prune2	A	T	19: 17,118,266	Q378L	probably damaging	Het
R3hdm4	C	T	10: 79,912,458	E162K	possibly damaging	Het
Rasa1	G	T	13: 85,288,555	T118K	possibly damaging	Het
Rin3	G	A	12: 102,325,834	V97M	probably damaging	Het
Rock2	T	C	12: 16,965,654		probably null	Het
Slc34a1	A	G	13: 55,403,268	I289V	probably benign	Het
Slc34a1	T	C	13: 55,412,290	L443P	probably damaging	Het
Slco2a1	A	T	9: 103,070,263	I254F	probably damaging	Het
Spink11	T	C	18: 44,195,686	I32V	probably benign	Het
Spire1	T	C	18: 67,506,555	E296G	probably damaging	Het
Sun1	A	G	5: 139,234,743	N410D	probably damaging	Het
Syt14	T	A	1: 192,930,663	T610S	possibly damaging	Het
Tenm3	T	C	8: 48,287,831	I1206V	possibly damaging	Het
Tet3	A	T	6: 83,376,764		probably null	Het
Thbs1	A	T	2: 118,122,666	Q919L	probably damaging	Het
Trappc10	A	G	10: 78,188,840	F1152L	possibly damaging	Het
Trp63	C	A	16: 25,863,718	N176K	probably damaging	Het
Zbtb17	A	G	4: 141,466,761	E700G	probably benign	Het
Zfp446	G	A	7: 12,978,057	R69H	probably benign	Het
Zfy2	C	T	Y: 2,106,555	C693Y	possibly damaging	Het
Zxdc	A	G	6: 90,382,146	T587A	probably damaging	Het
Zyg11a	A	G	4: 108,189,622	C552R	probably damaging	Het

Other mutations in Cpsf3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02039:Cpsf3	APN	12	21301456	missense	probably damaging	1.00
IGL02192:Cpsf3	APN	12	21310193	unclassified	probably benign
IGL02192:Cpsf3	APN	12	21310196	critical splice acceptor site	probably null
IGL02651:Cpsf3	APN	12	21293297	missense	probably damaging	1.00
IGL02963:Cpsf3	APN	12	21302422	missense	probably damaging	0.99
IGL03072:Cpsf3	APN	12	21295088	missense	possibly damaging	0.83
IGL03307:Cpsf3	APN	12	21296714	missense	possibly damaging	0.87
IGL03335:Cpsf3	APN	12	21306887	splice site	probably null
R0419:Cpsf3	UTSW	12	21297799	missense	probably damaging	1.00
R0441:Cpsf3	UTSW	12	21300084	missense	probably damaging	1.00
R1669:Cpsf3	UTSW	12	21305331	missense	probably damaging	1.00
R1797:Cpsf3	UTSW	12	21306850	missense	probably benign	0.01
R1801:Cpsf3	UTSW	12	21313790	missense	probably benign	0.01
R1860:Cpsf3	UTSW	12	21296732	missense	probably damaging	1.00
R3782:Cpsf3	UTSW	12	21300066	missense	possibly damaging	0.83
R3953:Cpsf3	UTSW	12	21313805	missense	probably benign
R3954:Cpsf3	UTSW	12	21313805	missense	probably benign
R3955:Cpsf3	UTSW	12	21313805	missense	probably benign
R3957:Cpsf3	UTSW	12	21313805	missense	probably benign
R4922:Cpsf3	UTSW	12	21301537	missense	probably damaging	1.00
R5112:Cpsf3	UTSW	12	21291784	missense	probably benign
R5507:Cpsf3	UTSW	12	21297928	missense	probably damaging	1.00
R6090:Cpsf3	UTSW	12	21295193	missense	probably damaging	0.99
R6144:Cpsf3	UTSW	12	21306886	splice site	probably null
R6238:Cpsf3	UTSW	12	21300162	missense	probably damaging	1.00
R7229:Cpsf3	UTSW	12	21296737	critical splice donor site	probably null
R7974:Cpsf3	UTSW	12	21308005	missense	probably damaging	1.00
R8175:Cpsf3	UTSW	12	21300177	missense	probably benign	0.07
R8914:Cpsf3	UTSW	12	21295111	missense	probably damaging	1.00
R9087:Cpsf3	UTSW	12	21308994	missense	probably damaging	1.00
R9149:Cpsf3	UTSW	12	21306843	missense	possibly damaging	0.64
R9301:Cpsf3	UTSW	12	21300111	missense	possibly damaging	0.93
R9378:Cpsf3	UTSW	12	21308038	missense	possibly damaging	0.95
R9476:Cpsf3	UTSW	12	21300079	missense	probably damaging	1.00
X0060:Cpsf3	UTSW	12	21302392	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TTAACAGTTTTCTCACTCACAGGTG -3'
(R):5'- GGAAAACCAATCAGGGGACTTTCC -3'

Sequencing Primer
(F):5'- ACAGGTGCTCTATTTTAACGACC -3'
(R):5'- AGGGAAGACTATTTCTCCAGCTC -3'

Posted On

2016-08-04