Mutagenetix > Incidental Mutation

Incidental Mutation 'R8914:Cpsf3'

678837

Institutional Source

Beutler Lab

Gene Symbol

Cpsf3

Ensembl Gene

ENSMUSG00000054309

Gene Name

cleavage and polyadenylation specificity factor 3

Synonyms

73 kDa

MMRRC Submission

068766-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.971) question?

Stock #

R8914 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

21336274-21365057 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 21345112 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 141 (H141Q)

Ref Sequence

ENSEMBL: ENSMUSP00000068148 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067284] [ENSMUST00000221145] [ENSMUST00000221507] [ENSMUST00000222474] [ENSMUST00000222968]

AlphaFold

Q9QXK7

Predicted Effect

probably damaging
Transcript: ENSMUST00000067284
AA Change: H141Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000068148
Gene: ENSMUSG00000054309
AA Change: H141Q

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

possibly damaging
Transcript: ENSMUST00000221145
AA Change: H135Q

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000221507

Predicted Effect

probably benign
Transcript: ENSMUST00000222474

Predicted Effect

probably damaging
Transcript: ENSMUST00000222968
AA Change: H141Q

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Meta Mutation Damage Score

0.4728

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (62/62)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5330417H12Rik	C	T	7: 107,223,922 (GRCm39)	E51K	unknown	Het
Akr1c20	T	C	13: 4,561,215 (GRCm39)	D146G	probably benign	Het
Anapc4	T	A	5: 53,000,843 (GRCm39)	C205*	probably null	Het
Ap3s2	A	G	7: 79,564,911 (GRCm39)	I86T	probably benign	Het
Arih2	C	G	9: 108,488,938 (GRCm39)	R260P	probably damaging	Het
Atp9a	C	T	2: 168,479,420 (GRCm39)		probably null	Het
Bcl11b	C	A	12: 107,883,163 (GRCm39)	R384L	probably damaging	Het
Bltp3a	T	G	17: 28,105,887 (GRCm39)	D804E	possibly damaging	Het
Brca2	T	A	5: 150,465,208 (GRCm39)	D1657E	probably damaging	Het
Cabyr	C	A	18: 12,884,077 (GRCm39)	T188N	probably damaging	Het
Capn5	C	A	7: 97,784,997 (GRCm39)	W159L	probably damaging	Het
Ccdc121rt3	A	T	5: 112,503,087 (GRCm39)	Y206N	probably damaging	Het
Ccnl1	A	T	3: 65,854,080 (GRCm39)	S514T	unknown	Het
Cdk14	G	T	5: 5,086,515 (GRCm39)	H286Q	possibly damaging	Het
Ddx24	A	G	12: 103,390,665 (GRCm39)	S109P	possibly damaging	Het
Dnmt3a	A	T	12: 3,916,192 (GRCm39)	R126*	probably null	Het
Dpys	C	A	15: 39,720,619 (GRCm39)	R47L	probably benign	Het
Dync1li2	A	G	8: 105,152,090 (GRCm39)	V361A	probably benign	Het
Epha7	T	G	4: 28,963,892 (GRCm39)	D962E	probably damaging	Het
Erh	G	T	12: 80,684,282 (GRCm39)	A65E	probably benign	Het
Fyb2	T	C	4: 104,857,700 (GRCm39)	S626P	probably benign	Het
Gtpbp1	T	A	15: 79,600,393 (GRCm39)	V442D	probably damaging	Het
Hecw1	T	A	13: 14,422,188 (GRCm39)	I973F	probably damaging	Het
Igkv1-99	A	C	6: 68,519,340 (GRCm39)	K99T		Het
Igkv6-14	C	T	6: 70,412,180 (GRCm39)	V35I	probably benign	Het
Il18rap	C	T	1: 40,582,177 (GRCm39)	T366M	probably benign	Het
Klk1b9	C	T	7: 43,628,925 (GRCm39)	T143I	possibly damaging	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,758,813 (GRCm39)		probably benign	Het
Mettl15	A	C	2: 108,967,625 (GRCm39)		probably benign	Het
Mki67	A	G	7: 135,299,595 (GRCm39)	V1813A		Het
Mrps30	A	G	13: 118,523,755 (GRCm39)	Y6H	possibly damaging	Het
Mthfd1	T	A	12: 76,329,710 (GRCm39)	I176K	probably benign	Het
Nckap5l	C	T	15: 99,323,761 (GRCm39)	G914D	probably damaging	Het
Nemf	C	A	12: 69,363,089 (GRCm39)	E930*	probably null	Het
Nuggc	G	A	14: 65,879,354 (GRCm39)	V705I	probably benign	Het
Omd	A	T	13: 49,745,718 (GRCm39)	K376M	probably damaging	Het
Or10a3n	T	C	7: 108,492,736 (GRCm39)	R298G	probably damaging	Het
Or2n1d	A	T	17: 38,646,320 (GRCm39)	T91S	possibly damaging	Het
Or4k42	C	A	2: 111,320,004 (GRCm39)	L166F	probably damaging	Het
Or51l14	T	A	7: 103,101,090 (GRCm39)	L182Q	probably damaging	Het
Or5g27	A	G	2: 85,410,056 (GRCm39)	T158A	possibly damaging	Het
Or5p68	A	G	7: 107,945,759 (GRCm39)	V143A	probably benign	Het
Or6c200-ps1	C	A	10: 128,871,372 (GRCm39)	M2I	probably benign	Het
Pi15	A	G	1: 17,691,962 (GRCm39)	Y217C	probably damaging	Het
Pou5f1	T	C	17: 35,821,371 (GRCm39)	S328P	probably benign	Het
Pparg	T	A	6: 115,440,133 (GRCm39)	S236T	probably benign	Het
Prss23	T	C	7: 89,159,854 (GRCm39)	T72A	probably benign	Het
Ptprb	C	A	10: 116,158,567 (GRCm39)	S546*	probably null	Het
Ranbp9	A	G	13: 43,578,560 (GRCm39)	I171T	probably benign	Het
Rap1gap2	A	T	11: 74,326,587 (GRCm39)	L160*	probably null	Het
Rfxap	T	C	3: 54,715,042 (GRCm39)	T19A	probably benign	Het
Sctr	T	A	1: 119,959,386 (GRCm39)	F95I	probably benign	Het
Sf3b3	T	A	8: 111,540,439 (GRCm39)	Q994L	probably benign	Het
Slfn9	A	T	11: 82,872,132 (GRCm39)	I868N	probably damaging	Het
Top3a	A	T	11: 60,631,405 (GRCm39)	C986S	probably damaging	Het
Trak1	T	A	9: 121,272,847 (GRCm39)	L245Q	unknown	Het
Trim27	A	G	13: 21,364,993 (GRCm39)	D110G	possibly damaging	Het
Ubxn2a	T	C	12: 4,930,754 (GRCm39)	D202G	probably benign	Het
Urb1	T	C	16: 90,607,122 (GRCm39)	K36R	probably damaging	Het
Usp34	A	G	11: 23,293,604 (GRCm39)	T252A		Het
Vmn1r73	C	A	7: 11,490,328 (GRCm39)	H49N	probably damaging	Het
Vmn2r117	C	T	17: 23,679,143 (GRCm39)	V694I	probably benign	Het
Vmn2r26	T	C	6: 124,038,983 (GRCm39)	F853L	probably benign	Het
Vmn2r55	A	T	7: 12,405,024 (GRCm39)	H126Q	probably benign	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
R3953:Cpsf3	UTSW	12	21,363,806 (GRCm39)	missense	probably benign
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
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'- CCTGGAGCCTTGTATGTCATG -3'
(R):5'- ACAGTGACTTTGTTTTACCCGC -3'

Sequencing Primer
(F):5'- CCTTGTATGTCATGGCAAATGC -3'
(R):5'- CCACATTCTGCAAGTCTTAGGGAAG -3'

Posted On

2021-08-02