Mutagenetix > Incidental Mutation

Incidental Mutation 'R1611:Cpsf6'

176807

Institutional Source

Beutler Lab

Gene Symbol

Cpsf6

Ensembl Gene

ENSMUSG00000055531

Gene Name

cleavage and polyadenylation specific factor 6

Synonyms

HPBRII-4, HPBRII-7, 4733401N12Rik, CFIM68

MMRRC Submission

039648-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.946) question?

Stock #

R1611 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

117180572-117212903 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to A at 117197733 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000135136 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069168] [ENSMUST00000175924] [ENSMUST00000176480] [ENSMUST00000176670] [ENSMUST00000176686] [ENSMUST00000177145]

AlphaFold

Q6NVF9

Predicted Effect

probably benign
Transcript: ENSMUST00000069168

SMART Domains

Protein: ENSMUSP00000068408
Gene: ENSMUSG00000055531

Domain	Start	End	E-Value	Type
RRM	82	157	8.79e-11	SMART
low complexity region	182	365	N/A	INTRINSIC
low complexity region	376	400	N/A	INTRINSIC
low complexity region	422	438	N/A	INTRINSIC
low complexity region	489	551	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000175924

SMART Domains

Protein: ENSMUSP00000135848
Gene: ENSMUSG00000055531

Domain	Start	End	E-Value	Type
PDB:3Q2T\|D	19	91	3e-48	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000176480

SMART Domains

Protein: ENSMUSP00000135550
Gene: ENSMUSG00000055531

Domain	Start	End	E-Value	Type
low complexity region	6	30	N/A	INTRINSIC
low complexity region	52	68	N/A	INTRINSIC
low complexity region	119	182	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176567

Predicted Effect

unknown
Transcript: ENSMUST00000176670
AA Change: I251F

SMART Domains

Protein: ENSMUSP00000135150
Gene: ENSMUSG00000055531
AA Change: I251F

Domain	Start	End	E-Value	Type
RRM	82	157	8.79e-11	SMART
low complexity region	182	232	N/A	INTRINSIC
low complexity region	273	402	N/A	INTRINSIC
low complexity region	413	437	N/A	INTRINSIC
low complexity region	459	475	N/A	INTRINSIC
low complexity region	526	588	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000176686

SMART Domains

Protein: ENSMUSP00000134823
Gene: ENSMUSG00000055531

Domain	Start	End	E-Value	Type
RRM	82	157	8.79e-11	SMART
low complexity region	182	365	N/A	INTRINSIC
low complexity region	376	400	N/A	INTRINSIC
low complexity region	422	438	N/A	INTRINSIC
low complexity region	489	552	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000177145

SMART Domains

Protein: ENSMUSP00000135136
Gene: ENSMUSG00000055531

Domain	Start	End	E-Value	Type
RRM	82	157	8.79e-11	SMART
low complexity region	182	365	N/A	INTRINSIC
low complexity region	376	400	N/A	INTRINSIC
low complexity region	422	438	N/A	INTRINSIC
low complexity region	489	551	N/A	INTRINSIC

Meta Mutation Damage Score

0.1088

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.2%
20x: 88.9%

Validation Efficiency

97% (75/77)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is one subunit of a cleavage factor required for 3' RNA cleavage and polyadenylation processing. The interaction of the protein with the RNA is one of the earliest steps in the assembly of the 3' end processing complex and facilitates the recruitment of other processing factors. The cleavage factor complex is composed of four polypeptides. This gene encodes the 68kD subunit. It has a domain organization reminiscent of spliceosomal proteins. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl6	A	T	11: 54,216,390 (GRCm39)	I186F	possibly damaging	Het
Actr6	T	A	10: 89,568,064 (GRCm39)	K14*	probably null	Het
Adgrv1	A	T	13: 81,707,236 (GRCm39)	V1390E	probably damaging	Het
Akap1	C	T	11: 88,736,104 (GRCm39)	R186K	probably benign	Het
Alg10b	T	A	15: 90,109,984 (GRCm39)	V99D	probably damaging	Het
Atp2c1	C	T	9: 105,320,051 (GRCm39)	G407S	probably damaging	Het
Atp9a	T	C	2: 168,515,489 (GRCm39)	M401V	probably damaging	Het
Auh	G	A	13: 52,989,532 (GRCm39)	P308L	probably benign	Het
Bclaf1	T	C	10: 20,198,998 (GRCm39)		probably benign	Het
Bcr	T	A	10: 74,961,034 (GRCm39)		probably null	Het
Bivm	T	C	1: 44,165,907 (GRCm39)	I119T	possibly damaging	Het
Cacna1h	A	G	17: 25,600,445 (GRCm39)	I1632T	probably damaging	Het
Capn9	G	A	8: 125,338,251 (GRCm39)	V537M	possibly damaging	Het
Cdk11b	G	A	4: 155,726,032 (GRCm39)		probably benign	Het
Cdk18	T	A	1: 132,050,113 (GRCm39)	I21F	probably damaging	Het
Cep85l	T	C	10: 53,224,777 (GRCm39)	T271A	probably benign	Het
Chrm5	T	C	2: 112,309,532 (GRCm39)	N528S	possibly damaging	Het
Cpt1c	T	C	7: 44,609,536 (GRCm39)	T689A	probably benign	Het
D030068K23Rik	T	C	8: 109,975,935 (GRCm39)	Y64C	unknown	Het
Ddb1	T	A	19: 10,604,128 (GRCm39)		probably null	Het
Ddb1	T	A	19: 10,590,252 (GRCm39)	C260S	probably damaging	Het
Depdc5	C	A	5: 33,148,297 (GRCm39)	Q1478K	probably damaging	Het
Diaph1	A	C	18: 38,033,755 (GRCm39)	M247R	unknown	Het
Dnai3	T	C	3: 145,801,113 (GRCm39)	Y115C	probably damaging	Het
Dusp8	T	C	7: 141,636,694 (GRCm39)	S299G	probably benign	Het
Erbb4	C	A	1: 68,079,547 (GRCm39)	G1178C	probably damaging	Het
Exoc7	A	T	11: 116,186,091 (GRCm39)	I370N	possibly damaging	Het
Fam120a	G	T	13: 49,039,219 (GRCm39)	A979E	possibly damaging	Het
Gm12353	T	A	4: 19,631,843 (GRCm39)	Y27*	probably null	Het
Gnl1	C	T	17: 36,298,441 (GRCm39)	T395I	probably damaging	Het
Hpse2	G	A	19: 42,777,504 (GRCm39)	T554I	probably damaging	Het
Hsd17b11	T	C	5: 104,157,765 (GRCm39)	I116V	probably benign	Het
Inava	G	A	1: 136,143,855 (GRCm39)	P527L	probably damaging	Het
Kif24	A	T	4: 41,423,552 (GRCm39)	V233E	probably benign	Het
Klhl5	A	G	5: 65,321,992 (GRCm39)	T673A	probably benign	Het
Kmt2c	C	A	5: 25,564,309 (GRCm39)		probably null	Het
Lipg	T	C	18: 75,081,130 (GRCm39)	N317S	possibly damaging	Het
Lpin1	A	T	12: 16,627,219 (GRCm39)	L109Q	probably null	Het
Lyst	A	G	13: 13,809,482 (GRCm39)	E384G	probably damaging	Het
Mical2	T	A	7: 111,980,671 (GRCm39)	I105N	probably damaging	Het
Muc4	C	T	16: 32,569,804 (GRCm39)	T288I	possibly damaging	Het
Naa35	G	T	13: 59,776,747 (GRCm39)	R574L	probably benign	Het
Ncor2	T	C	5: 125,187,084 (GRCm39)		probably benign	Het
Nedd9	T	A	13: 41,470,406 (GRCm39)	D249V	probably benign	Het
Nsg1	T	A	5: 38,296,060 (GRCm39)	K38*	probably null	Het
Nup155	T	A	15: 8,159,644 (GRCm39)	D518E	probably damaging	Het
Or5i1	T	A	2: 87,612,968 (GRCm39)	I28N	probably benign	Het
Ovol1	T	A	19: 5,601,098 (GRCm39)	H231L	probably damaging	Het
Parg	A	G	14: 31,960,527 (GRCm39)	I586V	probably damaging	Het
Pde7b	T	C	10: 20,310,236 (GRCm39)	N242S	probably benign	Het
Pias3	T	A	3: 96,607,013 (GRCm39)		probably null	Het
Pramel13	A	T	4: 144,119,382 (GRCm39)	V395E	probably benign	Het
Ptprf	A	G	4: 118,093,430 (GRCm39)	V404A	probably benign	Het
Rigi	T	C	4: 40,223,862 (GRCm39)	Y339C	probably damaging	Het
Rnf145	T	C	11: 44,442,625 (GRCm39)	L259P	probably damaging	Het
Rps6ka5	C	G	12: 100,537,111 (GRCm39)	V540L	possibly damaging	Het
Ryr3	C	T	2: 112,483,850 (GRCm39)	D3966N	possibly damaging	Het
Samd9l	A	T	6: 3,373,771 (GRCm39)	S1163R	probably benign	Het
Serpinb9g	T	C	13: 33,676,857 (GRCm39)	I213T	possibly damaging	Het
Sil1	A	T	18: 35,402,141 (GRCm39)	V331E	possibly damaging	Het
Ski	A	G	4: 155,244,395 (GRCm39)	F410S	probably damaging	Het
Slc25a25	C	T	2: 32,310,391 (GRCm39)	E123K	probably damaging	Het
Slfnl1	A	G	4: 120,390,574 (GRCm39)	E75G	probably benign	Het
Sp1	T	A	15: 102,339,370 (GRCm39)	I436N	probably damaging	Het
Taf4b	A	T	18: 14,977,526 (GRCm39)	E766V	probably null	Het
Tgfbr1	A	G	4: 47,396,526 (GRCm39)	Y180C	probably damaging	Het
Ube4a	T	C	9: 44,868,035 (GRCm39)		probably benign	Het
Vmn2r1	T	A	3: 64,011,958 (GRCm39)	C606*	probably null	Het
Zfp341	C	A	2: 154,487,623 (GRCm39)	H702Q	probably damaging	Het

Other mutations in Cpsf6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00504:Cpsf6	APN	10	117,202,034 (GRCm39)	unclassified	probably benign
IGL03018:Cpsf6	APN	10	117,203,861 (GRCm39)	missense	probably benign	0.02
IGL03392:Cpsf6	APN	10	117,203,884 (GRCm39)	missense	probably damaging	1.00
R1006:Cpsf6	UTSW	10	117,201,973 (GRCm39)	splice site	probably benign
R1239:Cpsf6	UTSW	10	117,197,248 (GRCm39)	unclassified	probably benign
R2041:Cpsf6	UTSW	10	117,195,033 (GRCm39)	missense	probably damaging	0.99
R2117:Cpsf6	UTSW	10	117,202,025 (GRCm39)	unclassified	probably benign
R2225:Cpsf6	UTSW	10	117,198,941 (GRCm39)	unclassified	probably benign
R4752:Cpsf6	UTSW	10	117,197,273 (GRCm39)	splice site	probably benign
R5001:Cpsf6	UTSW	10	117,203,866 (GRCm39)	missense	possibly damaging	0.71
R5176:Cpsf6	UTSW	10	117,197,189 (GRCm39)	unclassified	probably benign
R5393:Cpsf6	UTSW	10	117,197,921 (GRCm39)	unclassified	probably benign
R5696:Cpsf6	UTSW	10	117,196,934 (GRCm39)	unclassified	probably benign
R7216:Cpsf6	UTSW	10	117,197,928 (GRCm39)	missense	unknown
R7226:Cpsf6	UTSW	10	117,197,727 (GRCm39)	missense	unknown
R7522:Cpsf6	UTSW	10	117,203,734 (GRCm39)	missense	unknown
Z1088:Cpsf6	UTSW	10	117,191,946 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CCTTACAGTCTACTCTGATGCCAAGC -3'
(R):5'- GCAGCTACACAGTCAGGACAGATG -3'

Sequencing Primer
(F):5'- TCTACTCTGATGCCAAGCTAGAAAG -3'
(R):5'- TTCCTCAAGGTGGTAGAGGAC -3'

Posted On

2014-04-24