Mutagenetix > Incidental Mutations

Incidental Mutation 'R7318:Cpsf1'

565675

Institutional Source

Beutler Lab

Gene Symbol

Cpsf1

Ensembl Gene

ENSMUSG00000034022

Gene Name

cleavage and polyadenylation specific factor 1

Synonyms

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.967) question?

Stock #

R7318 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

76595803-76607591 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 76597275 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 1159 (K1159*)

Ref Sequence

ENSEMBL: ENSMUSP00000071794 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071898] [ENSMUST00000160784] [ENSMUST00000161612] [ENSMUST00000161732] [ENSMUST00000162503] [ENSMUST00000230157] [ENSMUST00000231042]

Predicted Effect

probably null
Transcript: ENSMUST00000071898
AA Change: K1159*

SMART Domains

Protein: ENSMUSP00000071794
Gene: ENSMUSG00000034022
AA Change: K1159*

Domain	Start	End	E-Value	Type
Pfam:MMS1_N	92	684	7.2e-42	PFAM
low complexity region	902	910	N/A	INTRINSIC
Pfam:CPSF_A	1071	1407	4.9e-94	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000160784

SMART Domains

Protein: ENSMUSP00000124666
Gene: ENSMUSG00000022550

Domain	Start	End	E-Value	Type
transmembrane domain	50	69	N/A	INTRINSIC
Pfam:ABC1	188	304	9.2e-38	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000161612

SMART Domains

Protein: ENSMUSP00000124701
Gene: ENSMUSG00000022550

Domain	Start	End	E-Value	Type
transmembrane domain	50	69	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000161732

SMART Domains

Protein: ENSMUSP00000125482
Gene: ENSMUSG00000022550

Domain	Start	End	E-Value	Type
transmembrane domain	50	69	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000162503

SMART Domains

Protein: ENSMUSP00000125055
Gene: ENSMUSG00000022550

Domain	Start	End	E-Value	Type
transmembrane domain	50	69	N/A	INTRINSIC
Pfam:ABC1	188	304	2.3e-38	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000229287

Predicted Effect

probably null
Transcript: ENSMUST00000230157
AA Change: K1159*

Predicted Effect

probably benign
Transcript: ENSMUST00000231042

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (67/67)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cleavage and polyadenylation specificity factor (CPSF) is a multisubunit complex that plays a central role in 3-prime processing of pre-mRNAs. CPSF recognizes the AAUAAA signal in the pre-mRNA and interacts with other proteins to facilitate both RNA cleavage and poly(A) synthesis. CPSF1 is the largest subunit of the CPSF complex (Murthy and Manley, 1995 [PubMed 7590244]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	T	C	7: 40,993,687	L260S	probably benign	Het
9130230L23Rik	A	T	5: 65,988,428	S113R	unknown	Het
Abcc5	G	A	16: 20,392,543	P557S	probably benign	Het
Acad11	A	G	9: 104,081,267	T245A	probably damaging	Het
Acap2	A	G	16: 31,127,337	F263L	probably damaging	Het
Ankle2	A	T	5: 110,237,766	N327I	probably benign	Het
Appl1	T	C	14: 26,963,660	E67G	probably benign	Het
Arfgef3	A	T	10: 18,630,463	C864S	possibly damaging	Het
Arhgap20	A	G	9: 51,840,502	I418V	probably benign	Het
Arhgef2	A	T	3: 88,632,303	N102Y	probably damaging	Het
Car9	G	T	4: 43,513,089	E431D	probably damaging	Het
Cbfa2t2	T	C	2: 154,500,454	I30T	probably benign	Het
Cd40	A	T	2: 165,062,335	D34V	possibly damaging	Het
Chrnb2	T	A	3: 89,763,367		probably null	Het
Chsy1	T	G	7: 66,110,229		probably null	Het
Cpne6	A	G	14: 55,514,294	T245A	possibly damaging	Het
Crisp1	T	A	17: 40,307,777	E64D	possibly damaging	Het
D3Ertd751e	A	G	3: 41,802,551		probably null	Het
Dnah7b	T	A	1: 46,195,372	L1488Q	probably damaging	Het
Dnm2	G	A	9: 21,505,567	G799R	possibly damaging	Het
E330009J07Rik	A	G	6: 40,409,164	V333A	possibly damaging	Het
Elp2	G	A	18: 24,606,899	V61I	probably damaging	Het
Epb41l3	T	C	17: 69,266,140	L388P		Het
Fam19a1	T	C	6: 96,115,756		probably null	Het
Fam205c	TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG	TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG	4: 42,871,823		probably benign	Het
Fry	A	T	5: 150,436,993	S2035C	probably damaging	Het
Gas8	T	C	8: 123,530,968	F385L	probably benign	Het
Ghsr	T	C	3: 27,372,467	V224A	possibly damaging	Het
Gstp2	T	A	19: 4,041,065	R85W	probably benign	Het
Ighv1-20	T	A	12: 114,724,190	I6F	possibly damaging	Het
Inpp4b	T	A	8: 82,071,745	M854K	probably damaging	Het
Kif15	A	G	9: 122,987,949	E538G	probably damaging	Het
Large2	T	C	2: 92,366,028	T485A	probably benign	Het
Lmo3	T	A	6: 138,421,365		probably benign	Het
Lyg1	G	A	1: 37,949,855	P95S	probably benign	Het
Lyst	A	G	13: 13,757,443	H3552R	probably benign	Het
Mtif2	C	T	11: 29,540,115	S385L	probably benign	Het
Muc4	A	T	16: 32,755,336	I1737F	unknown	Het
Mug1	T	C	6: 121,870,652		probably null	Het
Mx1	G	T	16: 97,452,086	Q350K	probably benign	Het
Mylk3	G	T	8: 85,359,097	D269E	probably benign	Het
Myo3a	A	T	2: 22,558,320	K974*	probably null	Het
Nectin4	G	T	1: 171,380,463	R141L	probably benign	Het
Nlgn2	T	C	11: 69,825,969	H582R	probably damaging	Het
Olfr558	T	A	7: 102,710,019	Y253*	probably null	Het
Olfr613	T	A	7: 103,552,091	M102K	probably damaging	Het
Pi16	C	A	17: 29,319,234	P7Q	possibly damaging	Het
Psmd11	C	A	11: 80,456,302	L171I	probably benign	Het
Rad54l	A	G	4: 116,110,709	V152A	possibly damaging	Het
Ranbp2	T	A	10: 58,483,087	Y2473*	probably null	Het
Sertad1	T	C	7: 27,489,485	I77T	possibly damaging	Het
Sesn3	A	T	9: 14,308,577	E87D	probably damaging	Het
Slc30a5	A	T	13: 100,813,969	S260R	probably benign	Het
Slc6a12	G	A	6: 121,352,013	G111S	probably damaging	Het
Slc6a12	T	C	6: 121,352,019	Y113H	probably benign	Het
Spag17	T	G	3: 99,939,983	M76R	probably benign	Het
Stard13	G	A	5: 151,062,573	Q491*	probably null	Het
Synpo2	T	C	3: 123,117,319	S226G	probably benign	Het
Tada2b	G	A	5: 36,483,987	T24I	probably benign	Het
Tmem51	TCCCC	TCCC	4: 142,037,685		probably null	Het
Tnnt1	T	A	7: 4,510,548		probably null	Het
Usp17lb	T	C	7: 104,841,133	I196V	probably benign	Het
Utp20	T	A	10: 88,813,949	K466N	possibly damaging	Het
Wdr46	T	C	17: 33,941,885		probably null	Het
Zfp287	T	A	11: 62,714,278	Q601L	probably damaging	Het
Zfp410	T	C	12: 84,325,690	S97P	probably benign	Het

Other mutations in Cpsf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00499:Cpsf1	APN	15	76600216	missense	probably benign	0.27
IGL01013:Cpsf1	APN	15	76599297	nonsense	probably null
IGL01599:Cpsf1	APN	15	76596541	missense	probably damaging	1.00
IGL02008:Cpsf1	APN	15	76603091	missense	probably damaging	1.00
IGL02291:Cpsf1	APN	15	76602821	missense	probably damaging	1.00
IGL02901:Cpsf1	APN	15	76599496	nonsense	probably null
IGL02929:Cpsf1	APN	15	76602127	critical splice donor site	probably null
IGL03402:Cpsf1	APN	15	76596003	splice site	probably null
R0005:Cpsf1	UTSW	15	76600680	critical splice donor site	probably null
R0044:Cpsf1	UTSW	15	76599553	missense	probably benign
R0044:Cpsf1	UTSW	15	76599553	missense	probably benign
R0487:Cpsf1	UTSW	15	76597002	missense	probably damaging	1.00
R0510:Cpsf1	UTSW	15	76603657	intron	probably benign
R0630:Cpsf1	UTSW	15	76601971	missense	probably damaging	1.00
R0780:Cpsf1	UTSW	15	76600377	missense	probably benign	0.17
R1617:Cpsf1	UTSW	15	76602370	nonsense	probably null
R1717:Cpsf1	UTSW	15	76602566	missense	possibly damaging	0.77
R1889:Cpsf1	UTSW	15	76602156	missense	probably benign	0.06
R1994:Cpsf1	UTSW	15	76603160	missense	probably benign	0.03
R2168:Cpsf1	UTSW	15	76603737	missense	possibly damaging	0.69
R2359:Cpsf1	UTSW	15	76597673	missense	probably benign	0.02
R2697:Cpsf1	UTSW	15	76599329	missense	probably damaging	1.00
R2847:Cpsf1	UTSW	15	76602851	missense	probably damaging	1.00
R2848:Cpsf1	UTSW	15	76602851	missense	probably damaging	1.00
R3409:Cpsf1	UTSW	15	76601781	nonsense	probably null
R3410:Cpsf1	UTSW	15	76601781	nonsense	probably null
R3815:Cpsf1	UTSW	15	76601149	missense	probably benign	0.22
R4030:Cpsf1	UTSW	15	76601779	missense	possibly damaging	0.96
R4491:Cpsf1	UTSW	15	76597722	missense	possibly damaging	0.85
R4615:Cpsf1	UTSW	15	76596937	missense	possibly damaging	0.88
R5227:Cpsf1	UTSW	15	76598948	missense	probably damaging	1.00
R5353:Cpsf1	UTSW	15	76602571	missense	probably damaging	1.00
R5548:Cpsf1	UTSW	15	76597327	missense	possibly damaging	0.95
R5552:Cpsf1	UTSW	15	76599646	missense	probably benign	0.27
R5746:Cpsf1	UTSW	15	76599837	missense	probably benign	0.01
R6319:Cpsf1	UTSW	15	76596967	missense	probably damaging	1.00
R6360:Cpsf1	UTSW	15	76597455	frame shift	probably null
R6572:Cpsf1	UTSW	15	76597455	frame shift	probably null
R6574:Cpsf1	UTSW	15	76597455	frame shift	probably null
R6576:Cpsf1	UTSW	15	76597455	frame shift	probably null
R6577:Cpsf1	UTSW	15	76597455	frame shift	probably null
R6588:Cpsf1	UTSW	15	76596822	missense	probably damaging	1.00
R6595:Cpsf1	UTSW	15	76602510	missense	probably damaging	1.00
R6621:Cpsf1	UTSW	15	76603519	missense	probably damaging	1.00
R6880:Cpsf1	UTSW	15	76602539	missense	probably benign	0.06
R6954:Cpsf1	UTSW	15	76599496	missense	probably damaging	1.00
R7100:Cpsf1	UTSW	15	76596114	missense	possibly damaging	0.73
R7255:Cpsf1	UTSW	15	76597543	missense	probably damaging	1.00
R7371:Cpsf1	UTSW	15	76600575	missense	probably damaging	1.00
R7387:Cpsf1	UTSW	15	76602566	missense	possibly damaging	0.77
R7446:Cpsf1	UTSW	15	76601750	missense	probably benign
R7612:Cpsf1	UTSW	15	76597009	missense	probably benign	0.00
X0052:Cpsf1	UTSW	15	76596302	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- CTCCACAGGAAGATCTGTAGGG -3'
(R):5'- TAAAGGGCTATGTGGCTGC -3'

Sequencing Primer
(F):5'- TCTGTAGGGCAGGAGGC -3'
(R):5'- CTATGTGGCTGCTGGGACC -3'

Posted On

2019-06-26