Mutagenetix > Incidental Mutation

Incidental Mutation 'R8968:Cpsf1'

682890

Institutional Source

Beutler Lab

Gene Symbol

Cpsf1

Ensembl Gene

ENSMUSG00000034022

Gene Name

cleavage and polyadenylation specific factor 1

Synonyms

MMRRC Submission

068802-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.970) question?

Stock #

R8968 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

76480003-76491791 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 76486169 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 358 (R358*)

Ref Sequence

ENSEMBL: ENSMUSP00000071794 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071898] [ENSMUST00000230157] [ENSMUST00000231042]

AlphaFold

Q9EPU4

Predicted Effect

probably null
Transcript: ENSMUST00000071898
AA Change: R358*

SMART Domains

Protein: ENSMUSP00000071794
Gene: ENSMUSG00000034022
AA Change: R358*

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 null
Transcript: ENSMUST00000230157
AA Change: R358*

Predicted Effect

probably benign
Transcript: ENSMUST00000231042

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	A	13: 77,480,429 (GRCm39)	L1153*	probably null	Het
Adamts2	T	C	11: 50,683,550 (GRCm39)	I944T	possibly damaging	Het
Aqp9	A	T	9: 71,045,485 (GRCm39)	C67*	probably null	Het
Armt1	G	T	10: 4,404,150 (GRCm39)	G412W	probably damaging	Het
B4galt1	T	C	4: 40,807,243 (GRCm39)	D381G	probably benign	Het
Bmp5	A	T	9: 75,780,579 (GRCm39)	H292L	probably benign	Het
Brpf1	T	C	6: 113,299,510 (GRCm39)	F1181S	probably damaging	Het
Btbd7	C	A	12: 102,779,025 (GRCm39)	G414C	probably damaging	Het
Ccdc65	A	T	15: 98,616,723 (GRCm39)	K204*	probably null	Het
Cdk5	T	A	5: 24,627,379 (GRCm39)	K88M	probably damaging	Het
Cdrt4	T	A	11: 62,883,634 (GRCm39)	L112Q	probably damaging	Het
Cenpb	T	C	2: 131,020,547 (GRCm39)	E417G	unknown	Het
Cep135	T	C	5: 76,754,576 (GRCm39)	I351T	possibly damaging	Het
Ces1d	A	T	8: 93,914,383 (GRCm39)	S226R	probably damaging	Het
Cfap97	T	A	8: 46,623,114 (GRCm39)	V168E	possibly damaging	Het
CN725425	T	C	15: 91,130,090 (GRCm39)	C318R	possibly damaging	Het
Cnga3	T	A	1: 37,300,460 (GRCm39)	D393E	probably benign	Het
Cplane1	A	T	15: 8,230,765 (GRCm39)	H1014L	possibly damaging	Het
Cyp2b23	G	A	7: 26,378,963 (GRCm39)	P167L	probably damaging	Het
Cyp2c70	A	T	19: 40,142,059 (GRCm39)	H477Q	probably benign	Het
D930020B18Rik	A	C	10: 121,490,721 (GRCm39)	Y107S	probably damaging	Het
Dhrs1	A	T	14: 55,978,192 (GRCm39)	F216I	probably benign	Het
Dmgdh	A	T	13: 93,845,767 (GRCm39)	K474*	probably null	Het
Dsp	T	C	13: 38,335,596 (GRCm39)	I11T	possibly damaging	Het
Erh	G	T	12: 80,684,282 (GRCm39)	A65E	probably benign	Het
Fmnl1	AGGCTCTGG	AGG	11: 103,077,444 (GRCm39)		probably benign	Het
Grid2	A	C	6: 64,643,139 (GRCm39)	H967P	probably benign	Het
Hc	A	G	2: 34,922,317 (GRCm39)	I503T	possibly damaging	Het
Herc3	T	C	6: 58,867,183 (GRCm39)	L824S	probably damaging	Het
Hfm1	T	C	5: 107,065,439 (GRCm39)	D80G	probably benign	Het
Hjurp	CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT	C	1: 88,193,999 (GRCm39)		probably benign	Het
Hspa1l	A	G	17: 35,196,230 (GRCm39)	K90E	possibly damaging	Het
Impa2	G	A	18: 67,451,497 (GRCm39)	V264I	probably benign	Het
Ipmk	C	T	10: 71,199,333 (GRCm39)	R65W	probably damaging	Het
Klhl38	C	T	15: 58,185,500 (GRCm39)	V410I	probably benign	Het
Lcn4	A	G	2: 26,558,360 (GRCm39)	I175T	possibly damaging	Het
Lipo2	C	A	19: 33,726,917 (GRCm39)	W40L	probably damaging	Het
Mgam	A	T	6: 40,734,745 (GRCm39)		probably null	Het
Myo16	T	A	8: 10,619,700 (GRCm39)	I1417N	unknown	Het
Or2n1d	A	T	17: 38,646,320 (GRCm39)	T91S	possibly damaging	Het
Or4a66	T	A	2: 88,531,137 (GRCm39)	I179F	probably benign	Het
Or52e19b	A	T	7: 103,032,667 (GRCm39)	C181S	probably damaging	Het
Or5j3	G	A	2: 86,128,526 (GRCm39)	R122H	probably benign	Het
Pcdha11	A	G	18: 37,145,307 (GRCm39)	N466S	probably damaging	Het
Pif1	C	T	9: 65,499,076 (GRCm39)	T432M	probably damaging	Het
Pigt	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	2: 164,341,589 (GRCm39)		probably null	Het
Pkd1l3	CCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGACACACCTGCATCCAATAGCCCACCACAGGGGACATCAGACACACCTGGATTCAGCAGCCCAACACAGGTGACAACAGCCACACTTGTATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACATCTGCATCCATCAGCCCACCACAGGTAATATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACA	CCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGACACACCTGCATCCAATAGCCCACCACAGGGGACATCAGACACACCTGGATTCAGCAGCCCAACACAGGTGACAACAGCCACACTTGTATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACATCTGCATCCATCAGCCCACCACAGGTAATATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACA	8: 110,350,420 (GRCm39)		probably benign	Het
Pole	T	C	5: 110,459,949 (GRCm39)	S1118P	possibly damaging	Het
Ppp4r4	T	C	12: 103,566,706 (GRCm39)	M652T	probably benign	Het
Prex2	A	T	1: 11,180,562 (GRCm39)	K376*	probably null	Het
Prps1l1	A	T	12: 35,035,205 (GRCm39)	I107F	probably damaging	Het
Resf1	T	A	6: 149,228,664 (GRCm39)	V570D	probably damaging	Het
Rfc1	C	T	5: 65,432,778 (GRCm39)	V761I	probably benign	Het
Ripk4	T	C	16: 97,547,203 (GRCm39)	E353G	probably benign	Het
Robo2	C	A	16: 73,767,941 (GRCm39)		probably null	Het
Rrm1	C	T	7: 102,117,545 (GRCm39)	A745V	probably benign	Het
Sash1	A	T	10: 8,606,179 (GRCm39)	V737D	probably benign	Het
Sel1l2	T	C	2: 140,127,209 (GRCm39)	K101E	probably benign	Het
Selenbp2	A	T	3: 94,607,337 (GRCm39)	I253F	probably benign	Het
Setd1a	C	T	7: 127,385,279 (GRCm39)	P662L	possibly damaging	Het
Slc16a6	C	T	11: 109,345,776 (GRCm39)	V496I	possibly damaging	Het
Slc4a4	A	T	5: 89,232,512 (GRCm39)	M239L	probably benign	Het
Slc7a8	G	C	14: 55,018,750 (GRCm39)	A12G	probably benign	Het
Snx30	T	C	4: 59,886,517 (GRCm39)	S309P	possibly damaging	Het
Spen	T	C	4: 141,197,701 (GRCm39)	N3389S	probably benign	Het
Spg11	T	C	2: 121,922,687 (GRCm39)	T921A	probably damaging	Het
Tanc2	T	A	11: 105,758,400 (GRCm39)	D720E	possibly damaging	Het
Tmprss9	A	T	10: 80,730,163 (GRCm39)	I688F	possibly damaging	Het
Trap1	A	G	16: 3,862,490 (GRCm39)	V596A	possibly damaging	Het
Ttc32	G	T	12: 9,080,187 (GRCm39)	R44L	probably benign	Het
Tusc3	T	A	8: 39,597,898 (GRCm39)	N288K	probably benign	Het
Ush2a	G	A	1: 188,127,956 (GRCm39)	G656E	probably damaging	Het
Vill	T	C	9: 118,892,671 (GRCm39)		probably null	Het
Vmn1r5	A	T	6: 56,963,182 (GRCm39)	R286*	probably null	Het
Vmn2r14	T	C	5: 109,365,533 (GRCm39)	T514A	probably benign	Het
Vmn2r32	G	A	7: 7,477,204 (GRCm39)	H396Y	probably benign	Het
Vmn2r75	A	T	7: 85,820,765 (GRCm39)	Y56*	probably null	Het
Wdfy3	C	T	5: 102,011,983 (GRCm39)	S2668N	probably benign	Het
Wdr72	G	A	9: 74,059,729 (GRCm39)	D392N	probably benign	Het
Zfp518a	A	C	19: 40,901,870 (GRCm39)	K600Q	possibly damaging	Het

Other mutations in Cpsf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00499:Cpsf1	APN	15	76,484,416 (GRCm39)	missense	probably benign	0.27
IGL01013:Cpsf1	APN	15	76,483,497 (GRCm39)	nonsense	probably null
IGL01599:Cpsf1	APN	15	76,480,741 (GRCm39)	missense	probably damaging	1.00
IGL02008:Cpsf1	APN	15	76,487,291 (GRCm39)	missense	probably damaging	1.00
IGL02291:Cpsf1	APN	15	76,487,021 (GRCm39)	missense	probably damaging	1.00
IGL02901:Cpsf1	APN	15	76,483,696 (GRCm39)	nonsense	probably null
IGL02929:Cpsf1	APN	15	76,486,327 (GRCm39)	critical splice donor site	probably null
IGL03402:Cpsf1	APN	15	76,480,203 (GRCm39)	splice site	probably null
R0005:Cpsf1	UTSW	15	76,484,880 (GRCm39)	critical splice donor site	probably null
R0044:Cpsf1	UTSW	15	76,483,753 (GRCm39)	missense	probably benign
R0044:Cpsf1	UTSW	15	76,483,753 (GRCm39)	missense	probably benign
R0487:Cpsf1	UTSW	15	76,481,202 (GRCm39)	missense	probably damaging	1.00
R0510:Cpsf1	UTSW	15	76,487,857 (GRCm39)	intron	probably benign
R0630:Cpsf1	UTSW	15	76,486,171 (GRCm39)	missense	probably damaging	1.00
R0780:Cpsf1	UTSW	15	76,484,577 (GRCm39)	missense	probably benign	0.17
R1617:Cpsf1	UTSW	15	76,486,570 (GRCm39)	nonsense	probably null
R1717:Cpsf1	UTSW	15	76,486,766 (GRCm39)	missense	possibly damaging	0.77
R1889:Cpsf1	UTSW	15	76,486,356 (GRCm39)	missense	probably benign	0.06
R1994:Cpsf1	UTSW	15	76,487,360 (GRCm39)	missense	probably benign	0.03
R2168:Cpsf1	UTSW	15	76,487,937 (GRCm39)	missense	possibly damaging	0.69
R2359:Cpsf1	UTSW	15	76,481,873 (GRCm39)	missense	probably benign	0.02
R2697:Cpsf1	UTSW	15	76,483,529 (GRCm39)	missense	probably damaging	1.00
R2847:Cpsf1	UTSW	15	76,487,051 (GRCm39)	missense	probably damaging	1.00
R2848:Cpsf1	UTSW	15	76,487,051 (GRCm39)	missense	probably damaging	1.00
R3409:Cpsf1	UTSW	15	76,485,981 (GRCm39)	nonsense	probably null
R3410:Cpsf1	UTSW	15	76,485,981 (GRCm39)	nonsense	probably null
R3815:Cpsf1	UTSW	15	76,485,349 (GRCm39)	missense	probably benign	0.22
R4030:Cpsf1	UTSW	15	76,485,979 (GRCm39)	missense	possibly damaging	0.96
R4491:Cpsf1	UTSW	15	76,481,922 (GRCm39)	missense	possibly damaging	0.85
R4615:Cpsf1	UTSW	15	76,481,137 (GRCm39)	missense	possibly damaging	0.88
R5227:Cpsf1	UTSW	15	76,483,148 (GRCm39)	missense	probably damaging	1.00
R5353:Cpsf1	UTSW	15	76,486,771 (GRCm39)	missense	probably damaging	1.00
R5548:Cpsf1	UTSW	15	76,481,527 (GRCm39)	missense	possibly damaging	0.95
R5552:Cpsf1	UTSW	15	76,483,846 (GRCm39)	missense	probably benign	0.27
R5746:Cpsf1	UTSW	15	76,484,037 (GRCm39)	missense	probably benign	0.01
R6319:Cpsf1	UTSW	15	76,481,167 (GRCm39)	missense	probably damaging	1.00
R6360:Cpsf1	UTSW	15	76,481,655 (GRCm39)	frame shift	probably null
R6572:Cpsf1	UTSW	15	76,481,655 (GRCm39)	frame shift	probably null
R6574:Cpsf1	UTSW	15	76,481,655 (GRCm39)	frame shift	probably null
R6576:Cpsf1	UTSW	15	76,481,655 (GRCm39)	frame shift	probably null
R6577:Cpsf1	UTSW	15	76,481,655 (GRCm39)	frame shift	probably null
R6588:Cpsf1	UTSW	15	76,481,022 (GRCm39)	missense	probably damaging	1.00
R6595:Cpsf1	UTSW	15	76,486,710 (GRCm39)	missense	probably damaging	1.00
R6621:Cpsf1	UTSW	15	76,487,719 (GRCm39)	missense	probably damaging	1.00
R6880:Cpsf1	UTSW	15	76,486,739 (GRCm39)	missense	probably benign	0.06
R6954:Cpsf1	UTSW	15	76,483,696 (GRCm39)	missense	probably damaging	1.00
R7100:Cpsf1	UTSW	15	76,480,314 (GRCm39)	missense	possibly damaging	0.73
R7255:Cpsf1	UTSW	15	76,481,743 (GRCm39)	missense	probably damaging	1.00
R7318:Cpsf1	UTSW	15	76,481,475 (GRCm39)	nonsense	probably null
R7371:Cpsf1	UTSW	15	76,484,775 (GRCm39)	missense	probably damaging	1.00
R7387:Cpsf1	UTSW	15	76,486,766 (GRCm39)	missense	possibly damaging	0.77
R7446:Cpsf1	UTSW	15	76,485,950 (GRCm39)	missense	probably benign
R7612:Cpsf1	UTSW	15	76,481,209 (GRCm39)	missense	probably benign	0.00
R7739:Cpsf1	UTSW	15	76,484,511 (GRCm39)	missense	probably benign	0.00
R7878:Cpsf1	UTSW	15	76,484,700 (GRCm39)	missense	probably damaging	1.00
R8334:Cpsf1	UTSW	15	76,487,787 (GRCm39)	missense	probably benign	0.26
R8345:Cpsf1	UTSW	15	76,485,690 (GRCm39)	missense	probably benign
R8382:Cpsf1	UTSW	15	76,485,151 (GRCm39)	missense	probably benign
R8403:Cpsf1	UTSW	15	76,484,483 (GRCm39)	missense	probably damaging	0.96
R8972:Cpsf1	UTSW	15	76,481,528 (GRCm39)	missense	probably damaging	1.00
R9257:Cpsf1	UTSW	15	76,484,992 (GRCm39)	missense	probably benign
R9627:Cpsf1	UTSW	15	76,484,088 (GRCm39)	missense	probably damaging	0.97
R9776:Cpsf1	UTSW	15	76,486,779 (GRCm39)	missense	probably damaging	1.00
X0052:Cpsf1	UTSW	15	76,480,502 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- GCTTCTCCGTGTACTTGAGG -3'
(R):5'- AGGCGGCCTTCATCTCTTATG -3'

Sequencing Primer
(F):5'- CTCCGTGTACTTGAGGAGGAG -3'
(R):5'- AAGATGGTCATCTCCCTCAAGGG -3'

Posted On

2021-10-11