Mutagenetix > Incidental Mutation

Incidental Mutation 'R5155:Cstf3'

396629

Institutional Source

Beutler Lab

Gene Symbol

Cstf3

Ensembl Gene

ENSMUSG00000027176

Gene Name

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

Synonyms

4732468G05Rik

MMRRC Submission

042737-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R5155 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

104420868-104495774 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104482830 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 326 (N326S)

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 benign
Transcript: ENSMUST00000028599
AA Change: N326S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000028599
Gene: ENSMUSG00000027176
AA Change: N326S

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: ENSMUST00000129571

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.4%

Validation Efficiency

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,482,447 (GRCm39)	V4326A	probably damaging	Het
Actn4	A	G	7: 28,661,442 (GRCm39)		probably null	Het
Adamts8	A	G	9: 30,865,844 (GRCm39)	D464G	probably benign	Het
Adss1	T	C	12: 112,604,642 (GRCm39)	I366T	probably damaging	Het
Alox12e	T	C	11: 70,207,081 (GRCm39)	D575G	possibly damaging	Het
Ankrd44	A	T	1: 54,817,489 (GRCm39)	M73K	probably benign	Het
Ap4e1	A	G	2: 126,905,289 (GRCm39)	T987A	probably benign	Het
Banp	A	C	8: 122,727,759 (GRCm39)	S318R	probably damaging	Het
Bcas1	T	C	2: 170,260,538 (GRCm39)	H47R	probably damaging	Het
Brwd1	G	T	16: 95,803,993 (GRCm39)	S2524*	probably null	Het
Btbd8	T	C	5: 107,638,569 (GRCm39)	I323T	probably damaging	Het
Cand2	T	A	6: 115,769,219 (GRCm39)	D676E	probably benign	Het
Cc2d1a	A	T	8: 84,867,755 (GRCm39)	H224Q	probably benign	Het
Ccdc138	A	T	10: 58,343,394 (GRCm39)	Y83F	probably benign	Het
Ccdc162	A	T	10: 41,429,576 (GRCm39)		probably null	Het
Ccdc162	A	C	10: 41,455,147 (GRCm39)	S396A	probably damaging	Het
Ces1e	A	T	8: 93,928,034 (GRCm39)	*562R	probably null	Het
Clstn2	T	A	9: 97,338,484 (GRCm39)	M892L	probably benign	Het
Crybg3	T	C	16: 59,345,264 (GRCm39)	T2673A	possibly damaging	Het
Cux1	G	A	5: 136,594,295 (GRCm39)		probably benign	Het
Cyb5r4	T	G	9: 86,922,456 (GRCm39)	M155R	probably benign	Het
D130043K22Rik	A	G	13: 25,056,273 (GRCm39)	D535G	probably damaging	Het
Dnah2	G	A	11: 69,313,362 (GRCm39)	P4266S	probably damaging	Het
Dnah7a	T	A	1: 53,682,654 (GRCm39)	N272I	probably benign	Het
Dsg2	A	G	18: 20,731,715 (GRCm39)	Y779C	possibly damaging	Het
Eif4g3	T	A	4: 137,854,054 (GRCm39)	N507K	probably benign	Het
Elavl4	T	C	4: 110,149,833 (GRCm39)	Q3R	probably null	Het
Engase	T	G	11: 118,372,107 (GRCm39)	I133S	probably benign	Het
Ercc5	T	C	1: 44,219,782 (GRCm39)	V1018A	probably damaging	Het
Ext1	C	A	15: 52,939,213 (GRCm39)	W612L	probably damaging	Het
Faap100	T	A	11: 120,268,458 (GRCm39)	E105V	possibly damaging	Het
Fam8a1	G	A	13: 46,827,038 (GRCm39)	A270T	probably benign	Het
Fhdc1	T	G	3: 84,353,457 (GRCm39)	Q589H	probably benign	Het
Gatm	G	A	2: 122,440,334 (GRCm39)	T35I	probably benign	Het
Gcgr	T	C	11: 120,427,872 (GRCm39)	I271T	probably benign	Het
Gm527	T	A	12: 64,970,381 (GRCm39)	Y239N	probably damaging	Het
H2-Ab1	A	G	17: 34,486,358 (GRCm39)	H139R	possibly damaging	Het
Herc2	G	A	7: 55,877,574 (GRCm39)	R4547Q	possibly damaging	Het
Itga1	A	T	13: 115,171,839 (GRCm39)	S89T	probably benign	Het
Kash5	C	A	7: 44,839,078 (GRCm39)	E53*	probably null	Het
Katnip	A	G	7: 125,471,356 (GRCm39)	T1486A	probably damaging	Het
Lrba	A	G	3: 86,258,607 (GRCm39)	M1365V	probably benign	Het
Lrp1b	A	C	2: 41,618,634 (GRCm39)		probably null	Het
Map1a	G	A	2: 121,132,867 (GRCm39)	A990T	probably damaging	Het
Micall2	C	A	5: 139,695,986 (GRCm39)	L784F	probably damaging	Het
Mmp9	T	C	2: 164,790,986 (GRCm39)		probably null	Het
Mrps7	T	A	11: 115,495,655 (GRCm39)	Y64*	probably null	Het
Mslnl	C	T	17: 25,957,942 (GRCm39)	Q62*	probably null	Het
Nfil3	A	G	13: 53,122,616 (GRCm39)	L96P	probably damaging	Het
Or2f1	A	G	6: 42,721,748 (GRCm39)	Y259C	probably damaging	Het
Phf3	T	C	1: 30,863,457 (GRCm39)	D756G	possibly damaging	Het
Plxnd1	C	T	6: 115,935,949 (GRCm39)		probably null	Het
Prickle4	C	T	17: 48,000,982 (GRCm39)		probably null	Het
Prr9	T	A	3: 92,030,356 (GRCm39)	T95S	possibly damaging	Het
Prrc2a	A	G	17: 35,379,067 (GRCm39)		probably null	Het
Prrt3	A	G	6: 113,474,520 (GRCm39)		probably null	Het
Psme4	A	T	11: 30,826,806 (GRCm39)	Y1775F	probably damaging	Het
Pum2	T	C	12: 8,763,572 (GRCm39)	V243A	possibly damaging	Het
Rnf32	T	C	5: 29,408,145 (GRCm39)	S125P	probably damaging	Het
Rnf8	A	G	17: 29,845,604 (GRCm39)	Y65C	probably damaging	Het
Rph3a	T	C	5: 121,086,833 (GRCm39)	T456A	possibly damaging	Het
Scaper	T	A	9: 55,463,370 (GRCm39)	Q854L	probably null	Het
Sez6l2	T	C	7: 126,561,545 (GRCm39)	S472P	probably damaging	Het
Spsb3	T	C	17: 25,105,969 (GRCm39)		probably benign	Het
Srebf2	A	G	15: 82,080,427 (GRCm39)	D40G	probably damaging	Het
Sspo	A	G	6: 48,437,408 (GRCm39)	N1389D	probably benign	Het
Taf4b	G	T	18: 14,963,152 (GRCm39)	A631S	probably benign	Het
Tcstv1b	T	C	13: 120,635,089 (GRCm39)	S124P	probably benign	Het
Tigd4	G	A	3: 84,501,970 (GRCm39)	V296M	possibly damaging	Het
Tsc22d2	T	A	3: 58,324,737 (GRCm39)		probably benign	Het
Uso1	T	A	5: 92,315,194 (GRCm39)		probably null	Het
Vmn2r6	T	G	3: 64,445,935 (GRCm39)	N597H	probably benign	Het
Zfc3h1	T	A	10: 115,248,026 (GRCm39)	S1076R	possibly damaging	Het
Zfp64	T	A	2: 168,748,885 (GRCm39)	Q44L	probably benign	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
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
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'- GGCCCTAGAAACTCTCTTCTGC -3'
(R):5'- CACCAGGTTTAGGAAGAATCATG -3'

Sequencing Primer
(F):5'- TCTCTTCTGCTCAGAACAAGAAG -3'
(R):5'- TCATGAGTTTGAGGGCCACATAC -3'

Posted On

2016-06-21