Mutagenetix > Incidental Mutation

Incidental Mutation 'R5304:Cstf3'

404402

Institutional Source

Beutler Lab

Gene Symbol

Cstf3

Ensembl Gene

ENSMUSG00000027176

Gene Name

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

Synonyms

4732468G05Rik

MMRRC Submission

042887-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.965) question?

Stock #

R5304 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104420868-104495774 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 104493735 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 580 (E580*)

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 null
Transcript: ENSMUST00000028599
AA Change: E580*

SMART Domains

Protein: ENSMUSP00000028599
Gene: ENSMUSG00000027176
AA Change: E580*

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124944

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126539

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129571

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131761

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 95.9%

Validation Efficiency

99% (87/88)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy1	C	T	11: 7,014,198 (GRCm39)	A200V	probably benign	Het
Adgrv1	T	C	13: 81,726,372 (GRCm39)	D551G	possibly damaging	Het
Aldh3a2	A	G	11: 61,144,538 (GRCm39)	V340A	probably damaging	Het
Amy1	C	A	3: 113,352,013 (GRCm39)	C393F	probably damaging	Het
Ankrd16	T	C	2: 11,794,545 (GRCm39)	V310A	probably benign	Het
Arhgef15	T	C	11: 68,838,063 (GRCm39)	S686G	probably null	Het
Arid4b	T	A	13: 14,361,514 (GRCm39)	N659K	probably benign	Het
Asz1	C	T	6: 18,076,619 (GRCm39)	R191Q	probably benign	Het
Atp2a3	A	G	11: 72,879,383 (GRCm39)	I947V	probably damaging	Het
AW011738	G	A	4: 156,287,969 (GRCm39)		probably benign	Het
Bfsp1	G	T	2: 143,669,211 (GRCm39)	T456K	probably benign	Het
Cdc25c	T	C	18: 34,883,864 (GRCm39)	T40A	possibly damaging	Het
Cdh20	G	A	1: 110,036,569 (GRCm39)	C583Y	probably damaging	Het
Ceacam23	A	C	7: 17,636,617 (GRCm39)	E231D	probably benign	Het
Cfap54	A	T	10: 92,656,968 (GRCm39)	L3028Q	probably damaging	Het
Chd1	A	G	17: 15,975,213 (GRCm39)	S1088G	probably benign	Het
Chd1	A	T	17: 15,990,530 (GRCm39)	H1694L	possibly damaging	Het
Dip2a	A	T	10: 76,130,357 (GRCm39)	M622K	possibly damaging	Het
Dlgap1	A	T	17: 71,122,202 (GRCm39)	H877L	probably damaging	Het
Egfr	G	T	11: 16,834,260 (GRCm39)	M122I	probably benign	Het
Etfbkmt	T	A	6: 149,048,704 (GRCm39)	D114E	probably damaging	Het
Eva1c	T	C	16: 90,666,551 (GRCm39)	L158P	probably damaging	Het
Exo1	G	A	1: 175,720,542 (GRCm39)	V287M	probably damaging	Het
Fam171a1	T	C	2: 3,226,654 (GRCm39)	Y471H	probably damaging	Het
Fermt1	T	A	2: 132,783,986 (GRCm39)	T8S	probably benign	Het
Fgfr2	G	T	7: 129,769,504 (GRCm39)	P630T	probably damaging	Het
Fmo5	G	A	3: 97,558,938 (GRCm39)	G466E	probably damaging	Het
Hcn4	A	G	9: 58,751,215 (GRCm39)	I280M	probably benign	Het
Ifi208	A	C	1: 173,511,174 (GRCm39)	K443T	probably benign	Het
Irs3	A	G	5: 137,643,003 (GRCm39)	F145S	probably benign	Het
Kirrel1	T	A	3: 86,996,902 (GRCm39)	H300L	probably benign	Het
Krit1	A	G	5: 3,869,326 (GRCm39)	Q340R	probably damaging	Het
Lipo5	T	C	19: 33,445,149 (GRCm39)	D140G	unknown	Het
Lrrtm4	A	T	6: 79,999,683 (GRCm39)	Q365L	probably benign	Het
Lrwd1	G	T	5: 136,160,004 (GRCm39)	T353K	possibly damaging	Het
Lsm14a	A	T	7: 34,053,154 (GRCm39)	S240R	possibly damaging	Het
Map3k5	A	G	10: 19,983,984 (GRCm39)	I870V	probably benign	Het
Matcap2	A	T	9: 22,335,528 (GRCm39)	T49S	probably benign	Het
Mmp17	A	T	5: 129,671,678 (GRCm39)	E76V	probably null	Het
Mphosph10	A	G	7: 64,038,732 (GRCm39)	F272L	probably damaging	Het
Mtcl2	G	A	2: 156,865,737 (GRCm39)	Q1127*	probably null	Het
Myh10	A	G	11: 68,655,071 (GRCm39)	K380R	probably damaging	Het
Myo3b	C	T	2: 70,257,232 (GRCm39)	P1282L	probably damaging	Het
Nemp2	T	C	1: 52,682,238 (GRCm39)		probably benign	Het
Ola1	T	C	2: 73,029,778 (GRCm39)	I114V	probably damaging	Het
Or4c3d	T	A	2: 89,882,257 (GRCm39)	H137L	probably benign	Het
Or8k28	T	A	2: 86,285,779 (GRCm39)	T279S	probably damaging	Het
Pabpc4	T	G	4: 123,184,100 (GRCm39)	D204E	probably benign	Het
Pigr	A	T	1: 130,777,230 (GRCm39)	M679L	probably benign	Het
Pik3c2b	A	T	1: 132,998,146 (GRCm39)	M341L	possibly damaging	Het
Plin4	T	A	17: 56,413,132 (GRCm39)	T498S	probably benign	Het
Ppp2r5e	A	G	12: 75,562,459 (GRCm39)	S15P	possibly damaging	Het
Prdm13	T	C	4: 21,678,984 (GRCm39)	Y502C	probably damaging	Het
Ptprk	T	C	10: 28,468,050 (GRCm39)		probably null	Het
Rapgef6	T	C	11: 54,548,200 (GRCm39)	S505P	probably benign	Het
Rgmb	G	T	17: 16,040,990 (GRCm39)	S199*	probably null	Het
Rgsl1	T	C	1: 153,703,238 (GRCm39)	T173A	probably damaging	Het
Rhobtb1	G	T	10: 69,105,742 (GRCm39)	K102N	probably damaging	Het
Ripor2	A	T	13: 24,858,649 (GRCm39)	D147V	probably damaging	Het
Rsad2	A	T	12: 26,500,681 (GRCm39)	V202E	probably damaging	Het
Slc1a6	A	G	10: 78,629,141 (GRCm39)	N186S	probably damaging	Het
Sorbs3	G	A	14: 70,422,345 (GRCm39)	R622*	probably null	Het
Spag9	C	A	11: 93,959,838 (GRCm39)	D342E	probably damaging	Het
Srgap3	T	C	6: 112,743,900 (GRCm39)	Y446C	probably damaging	Het
Thsd7b	C	T	1: 129,605,980 (GRCm39)	R574*	probably null	Het
Tmem74	A	T	15: 43,730,217 (GRCm39)	Y275*	probably null	Het
Topors	A	T	4: 40,262,541 (GRCm39)	S248T	possibly damaging	Het
Trpm1	A	T	7: 63,858,694 (GRCm39)	Y239F	probably benign	Het
Ttn	T	A	2: 76,548,527 (GRCm39)	Y30179F	possibly damaging	Het
Ugt2b34	A	T	5: 87,040,724 (GRCm39)	F399L	probably damaging	Het
Ush2a	A	T	1: 188,088,995 (GRCm39)	I317F	probably damaging	Het
Usp1	T	C	4: 98,822,855 (GRCm39)	V723A	probably benign	Het
Usp34	T	G	11: 23,293,616 (GRCm39)	L237V	probably damaging	Het
Vgf	A	T	5: 137,061,140 (GRCm39)	D434V	probably damaging	Het
Vmn1r179	A	G	7: 23,628,100 (GRCm39)	N97S	probably benign	Het
Vps13a	A	G	19: 16,687,751 (GRCm39)	L899P	possibly damaging	Het
Vps33b	A	T	7: 79,924,001 (GRCm39)	I41F	probably damaging	Het
Zap70	A	T	1: 36,817,299 (GRCm39)	H210L	probably damaging	Het
Zc3h8	T	C	2: 128,770,835 (GRCm39)	D300G	probably benign	Het
Zfp958	C	A	8: 4,676,196 (GRCm39)	H55N	possibly 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
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
R6747:Cstf3	UTSW	2	104,477,112 (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'- TCCTCAAGATTGTGGAACTGC -3'
(R):5'- CTGCAGTGTTCAGAGGCTTG -3'

Sequencing Primer
(F):5'- TGTGGAACTGCACAATGCTC -3'
(R):5'- GCAGTTCAAAGATTACTGTCAACTC -3'

Posted On

2016-07-22