Mutagenetix > Incidental Mutation

Incidental Mutation 'R6747:Cstf3'

530567

Institutional Source

Beutler Lab

Gene Symbol

Cstf3

Ensembl Gene

ENSMUSG00000027176

Gene Name

cleavage stimulation factor, 3' pre-RNA, subunit 3

Synonyms

4732468G05Rik

MMRRC Submission

044864-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R6747 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

104420868-104495774 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 104477112 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 168 (V168F)

Ref Sequence

ENSEMBL: ENSMUSP00000028599 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028599]

AlphaFold

Q99LI7

PDB Structure

Crystal Structure of the HAT-C domain of murine CstF-77 [X-RAY DIFFRACTION]
Crystal structure of HAT domain of murine CstF-77 [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000028599
AA Change: V168F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000028599
Gene: ENSMUSG00000027176
AA Change: V168F

Domain	Start	End	E-Value	Type
low complexity region	10	27	N/A	INTRINSIC
HAT	45	77	4.67e-8	SMART
HAT	79	110	5.04e-4	SMART
HAT	117	152	1.38e-1	SMART
HAT	163	196	4.39e-4	SMART
HAT	229	261	1.19e0	SMART
HAT	271	303	9.12e0	SMART
HAT	319	352	2.73e0	SMART
HAT	354	387	7.31e-1	SMART
HAT	424	456	2.37e0	SMART
HAT	458	494	1.46e0	SMART
low complexity region	597	619	N/A	INTRINSIC

Meta Mutation Damage Score

0.2368

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 96.0%

Validation Efficiency

97% (68/70)

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 of three (including CSTF1 and CSTF2) cleavage stimulation factors that combine to form the cleavage stimulation factor complex (CSTF). This complex is involved in the polyadenylation and 3' end cleavage of pre-mRNAs. The encoded protein functions as a homodimer and interacts directly with both CSTF1 and CSTF2 in the CSTF complex. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	C	T	3: 121,919,962 (GRCm39)		probably null	Het
Acyp1	C	T	12: 85,325,679 (GRCm39)	V107I	probably null	Het
Aftph	T	C	11: 20,676,144 (GRCm39)		probably null	Het
Agtpbp1	A	T	13: 59,692,167 (GRCm39)		probably null	Het
Arhgap15	C	A	2: 44,006,689 (GRCm39)	P269T	probably damaging	Het
Arhgap30	T	C	1: 171,235,297 (GRCm39)	V557A	probably damaging	Het
Asb3	T	A	11: 31,031,493 (GRCm39)	M410K	probably benign	Het
B4galnt2	T	C	11: 95,759,460 (GRCm39)		probably null	Het
Birc2	A	G	9: 7,860,262 (GRCm39)		probably null	Het
Cav2	A	T	6: 17,286,950 (GRCm39)	N69Y	probably damaging	Het
Cc2d2b	G	A	19: 40,784,111 (GRCm39)	C826Y	probably benign	Het
Cenpf	T	A	1: 189,385,051 (GRCm39)	T2410S	probably benign	Het
Chchd1	A	G	14: 20,753,448 (GRCm39)	D24G	probably benign	Het
Cmip	G	A	8: 118,163,618 (GRCm39)	G450S	probably benign	Het
Col11a1	C	T	3: 114,006,099 (GRCm39)	Q534*	probably null	Het
Col3a1	G	T	1: 45,377,782 (GRCm39)		probably benign	Het
Cox4i1	T	C	8: 121,399,969 (GRCm39)	I31T	possibly damaging	Het
Dapk1	T	C	13: 60,873,154 (GRCm39)	I352T	probably benign	Het
Ddx52	T	C	11: 83,846,128 (GRCm39)	V456A	probably damaging	Het
Dmxl2	A	T	9: 54,323,372 (GRCm39)	H1337Q	probably damaging	Het
Dnah7a	T	C	1: 53,675,221 (GRCm39)	T369A	probably benign	Het
Dppa1	T	A	11: 46,516,422 (GRCm39)	I8F	unknown	Het
Ebf1	G	T	11: 44,774,641 (GRCm39)	V213F	probably damaging	Het
Foxb2	C	A	19: 16,850,197 (GRCm39)	E270*	probably null	Het
Gclc	A	T	9: 77,695,527 (GRCm39)	R450W	probably damaging	Het
Grin2d	T	C	7: 45,511,692 (GRCm39)	E251G	probably damaging	Het
Hal	A	T	10: 93,336,539 (GRCm39)	N423Y	probably damaging	Het
Krtap4-8	T	A	11: 99,670,917 (GRCm39)	I185F	unknown	Het
Lrp3	T	A	7: 34,910,862 (GRCm39)	Q61L	probably benign	Het
Met	A	C	6: 17,571,466 (GRCm39)	Q1296H	probably damaging	Het
Mphosph9	T	A	5: 124,435,762 (GRCm39)	N557I	possibly damaging	Het
Mrpl46	C	A	7: 78,432,729 (GRCm39)	W16C	probably benign	Het
Myh13	G	A	11: 67,241,245 (GRCm39)	R874Q	probably damaging	Het
Nelfb	G	A	2: 25,093,393 (GRCm39)	T453I	probably benign	Het
Nos2	A	G	11: 78,843,780 (GRCm39)	D909G	probably damaging	Het
Nr5a2	T	C	1: 136,810,082 (GRCm39)	E431G	possibly damaging	Het
Nsmce2	A	G	15: 59,463,573 (GRCm39)	D149G	probably benign	Het
Or52b1	C	T	7: 104,979,234 (GRCm39)	R55H	probably benign	Het
Or5ac21	T	C	16: 59,124,004 (GRCm39)	F164L	probably benign	Het
Pcbp4	C	A	9: 106,337,847 (GRCm39)		probably null	Het
Peg10	A	G	6: 4,757,137 (GRCm39)		probably benign	Het
Pms2	C	T	5: 143,862,237 (GRCm39)	P154L	probably benign	Het
Pou6f2	A	C	13: 18,303,772 (GRCm39)	L112R	probably benign	Het
Pramel30	T	C	4: 144,059,548 (GRCm39)	W420R	probably benign	Het
Prdm6	A	T	18: 53,598,118 (GRCm39)		probably benign	Het
Prob1	G	A	18: 35,788,207 (GRCm39)	R12W	probably damaging	Het
Rif1	T	A	2: 51,968,275 (GRCm39)		probably null	Het
Rpl9-ps6	A	G	19: 32,443,543 (GRCm39)	S137P	probably benign	Het
Rsf1	GGCG	GGCGACGGCAGCG	7: 97,229,113 (GRCm39)		probably benign	Homo
Sec23ip	A	G	7: 128,354,573 (GRCm39)		silent	Het
Slc38a9	T	C	13: 112,826,714 (GRCm39)	C151R	probably benign	Het
Slc39a8	T	C	3: 135,554,941 (GRCm39)		probably null	Het
Slc6a18	C	A	13: 73,826,110 (GRCm39)		probably benign	Het
Snw1	T	C	12: 87,511,480 (GRCm39)	D57G	probably damaging	Het
Sox6	C	G	7: 115,140,966 (GRCm39)	R505P	probably damaging	Het
Speg	T	C	1: 75,387,039 (GRCm39)		probably null	Het
Spire2	C	T	8: 124,083,585 (GRCm39)	R190C	probably damaging	Het
Stard9	A	C	2: 120,528,864 (GRCm39)	H1707P	possibly damaging	Het
Tenm3	G	T	8: 48,796,278 (GRCm39)	T237K	probably damaging	Het
Themis2	T	A	4: 132,523,573 (GRCm39)	E31V	possibly damaging	Het
Trim56	T	G	5: 137,143,375 (GRCm39)	Q47P	probably damaging	Het
Trim58	T	C	11: 58,542,090 (GRCm39)	I350T	probably benign	Het
Ttll7	C	T	3: 146,649,811 (GRCm39)	P639S	probably benign	Het
Ubxn6	A	G	17: 56,377,650 (GRCm39)		probably null	Het
Vmn2r114	A	T	17: 23,528,850 (GRCm39)	F417L	probably benign	Het
Vmn2r29	T	A	7: 7,234,421 (GRCm39)	M822L	probably benign	Het
Vps9d1	T	C	8: 123,980,746 (GRCm39)	D27G	probably damaging	Het
Wdr3	C	T	3: 100,046,040 (GRCm39)	R931Q	probably damaging	Het
Whamm	G	A	7: 81,228,050 (GRCm39)		probably null	Het
Zcchc24	T	C	14: 25,757,457 (GRCm39)	H142R	probably damaging	Het
Zfp292	T	C	4: 34,806,894 (GRCm39)	K2050R	probably damaging	Het

Other mutations in Cstf3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01911:Cstf3	APN	2	104,476,976 (GRCm39)	missense	probably damaging	1.00
IGL02734:Cstf3	APN	2	104,439,539 (GRCm39)	splice site	probably benign
IGL03025:Cstf3	APN	2	104,439,276 (GRCm39)	missense	possibly damaging	0.82
Amanita	UTSW	2	104,420,926 (GRCm39)	start gained	probably benign
Ptomaine	UTSW	2	104,479,807 (GRCm39)	missense	probably benign
R0043:Cstf3	UTSW	2	104,475,430 (GRCm39)	splice site	probably benign
R0189:Cstf3	UTSW	2	104,482,791 (GRCm39)	missense	probably damaging	1.00
R0332:Cstf3	UTSW	2	104,476,812 (GRCm39)	critical splice donor site	probably null
R0499:Cstf3	UTSW	2	104,479,950 (GRCm39)	missense	possibly damaging	0.95
R1476:Cstf3	UTSW	2	104,478,564 (GRCm39)	missense	possibly damaging	0.82
R1677:Cstf3	UTSW	2	104,494,623 (GRCm39)	intron	probably benign
R1881:Cstf3	UTSW	2	104,484,563 (GRCm39)	missense	probably benign
R1916:Cstf3	UTSW	2	104,486,101 (GRCm39)	missense	possibly damaging	0.90
R3720:Cstf3	UTSW	2	104,483,431 (GRCm39)	splice site	probably benign
R3813:Cstf3	UTSW	2	104,439,466 (GRCm39)	missense	probably damaging	1.00
R5155:Cstf3	UTSW	2	104,482,830 (GRCm39)	missense	probably benign
R5304:Cstf3	UTSW	2	104,493,735 (GRCm39)	nonsense	probably null
R5564:Cstf3	UTSW	2	104,439,347 (GRCm39)	intron	probably benign
R5869:Cstf3	UTSW	2	104,489,585 (GRCm39)	splice site	probably null
R6172:Cstf3	UTSW	2	104,481,987 (GRCm39)	missense	probably damaging	1.00
R6841:Cstf3	UTSW	2	104,486,076 (GRCm39)	missense	probably benign	0.22
R6959:Cstf3	UTSW	2	104,479,807 (GRCm39)	missense	probably benign
R7139:Cstf3	UTSW	2	104,483,409 (GRCm39)	missense	possibly damaging	0.87
R7143:Cstf3	UTSW	2	104,476,961 (GRCm39)	missense	probably benign	0.01
R7350:Cstf3	UTSW	2	104,439,301 (GRCm39)	missense	probably damaging	1.00
R7794:Cstf3	UTSW	2	104,420,926 (GRCm39)	start gained	probably benign
R8315:Cstf3	UTSW	2	104,420,926 (GRCm39)	start gained	probably benign
R8873:Cstf3	UTSW	2	104,475,355 (GRCm39)	missense	possibly damaging	0.92
R9188:Cstf3	UTSW	2	104,439,223 (GRCm39)	missense	possibly damaging	0.68
R9339:Cstf3	UTSW	2	104,493,778 (GRCm39)	missense	probably damaging	1.00
R9612:Cstf3	UTSW	2	104,483,370 (GRCm39)	missense	possibly damaging	0.80
R9762:Cstf3	UTSW	2	104,494,684 (GRCm39)	nonsense	probably null
R9801:Cstf3	UTSW	2	104,421,024 (GRCm39)	missense	possibly damaging	0.73
X0013:Cstf3	UTSW	2	104,489,622 (GRCm39)	missense	possibly damaging	0.58

Predicted Primers

PCR Primer
(F):5'- GCATGGGACTCTGGGTATAC -3'
(R):5'- GCACCTGACACTAGAAGCTC -3'

Sequencing Primer
(F):5'- GACTCTGGGTATACACCTAAAAGTG -3'
(R):5'- TGACACTAGAAGCTCATCTCTG -3'

Posted On

2018-08-01