Mutagenetix > Incidental Mutations

Incidental Mutation 'R4991:Cstf1'

386178

Institutional Source

Beutler Lab

Gene Symbol

Cstf1

Ensembl Gene

ENSMUSG00000027498

Gene Name

cleavage stimulation factor, 3' pre-RNA, subunit 1

Synonyms

MMRRC Submission

042585-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.964) question?

Stock #

R4991 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

172370681-172382448 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 172377800 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 277 (Y277C)

Ref Sequence

ENSEMBL: ENSMUSP00000112076 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000116375] [ENSMUST00000151511]

Predicted Effect

probably damaging
Transcript: ENSMUST00000116375
AA Change: Y277C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112076
Gene: ENSMUSG00000027498
AA Change: Y277C

Domain	Start	End	E-Value	Type
Pfam:CSTF1_dimer	6	62	5.4e-28	PFAM
WD40	97	136	2.61e-3	SMART
WD40	162	201	3.29e-9	SMART
WD40	206	245	6.88e0	SMART
WD40	248	290	9.02e-7	SMART
WD40	293	334	1.44e-5	SMART
Blast:WD40	337	382	8e-9	BLAST
WD40	385	425	2.49e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000151511

SMART Domains

Protein: ENSMUSP00000121178
Gene: ENSMUSG00000027498

Domain	Start	End	E-Value	Type
PDB:2XZ2\|A	8	59	2e-7	PDB
WD40	97	136	2.61e-3	SMART

Meta Mutation Damage Score

0.4891

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.7%
20x: 90.0%

Validation Efficiency

95% (73/77)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of three subunits which combine to form cleavage stimulation factor (CSTF). CSTF is involved in the polyadenylation and 3'end cleavage of pre-mRNAs. Similar to mammalian G protein beta subunits, this protein contains transducin-like repeats. Several transcript variants with different 5' UTR, but encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy4	G	T	14: 55,773,465	T665K	probably benign	Het
Adgrf3	C	T	5: 30,199,148	V369M	probably benign	Het
Als2	T	C	1: 59,207,768	K571E	probably benign	Het
Amer3	A	C	1: 34,588,741	D687A	probably benign	Het
Asb14	T	C	14: 26,915,058	S586P	probably damaging	Het
Chmp4b	A	G	2: 154,692,625	E187G	probably benign	Het
Cox6b2	T	C	7: 4,752,161	D38G	probably damaging	Het
Cpm	G	A	10: 117,668,103	C138Y	probably damaging	Het
Csmd3	G	T	15: 48,001,478	P785Q	probably damaging	Het
Cstf2t	T	A	19: 31,084,583	N506K	probably damaging	Het
Dmpk	C	G	7: 19,088,019	L301V	probably benign	Het
Ebf2	A	T	14: 67,389,657	T265S	possibly damaging	Het
Elmo1	T	C	13: 20,342,519	F413S	probably damaging	Het
Fbp1	C	T	13: 62,865,074	V102I	probably benign	Het
Gm13212	C	A	4: 145,622,334	Q114K	probably benign	Het
Gm14548	T	G	7: 3,895,572	Q292H	probably benign	Het
Gm16432	A	C	1: 178,098,421	I218L	probably benign	Het
Gm19684	A	G	17: 36,127,472		probably benign	Het
Gm29106	T	C	1: 118,178,391	M37T	probably benign	Het
Grem2	A	G	1: 174,836,813	C157R	probably damaging	Het
Hdac5	T	A	11: 102,205,624	E252D	probably damaging	Het
Ifitm3	A	T	7: 141,010,459	F63I	probably damaging	Het
Igkv4-80	A	C	6: 69,016,665	S81A	probably benign	Het
Irx4	G	T	13: 73,265,507	R32L	probably benign	Het
Itgb1bp1	C	T	12: 21,274,848	G69D	probably damaging	Het
Kcnh3	A	G	15: 99,232,756	D418G	probably benign	Het
Kif1a	T	C	1: 93,078,808	T46A	probably benign	Het
Klk1b26	T	A	7: 44,016,249		probably null	Het
Lca5l	T	C	16: 96,159,732	E510G	possibly damaging	Het
Lrriq1	A	G	10: 103,200,559	I911T	probably damaging	Het
Mios	T	G	6: 8,215,847	S348A	probably benign	Het
Mog	T	C	17: 37,017,489		probably null	Het
Mtmr7	A	G	8: 40,554,345	S516P	probably damaging	Het
Nat8f4	T	C	6: 85,901,140	K134E	probably benign	Het
Nbeal2	C	T	9: 110,638,767	C451Y	probably damaging	Het
Nkx2-1	T	C	12: 56,534,939	Y41C	possibly damaging	Het
Nmnat1	G	A	4: 149,469,127	T176M	possibly damaging	Het
Nrxn3	T	A	12: 89,260,474	I293N	probably damaging	Het
Olfr1031	A	G	2: 85,992,287	M157V	probably damaging	Het
Olfr1447	T	G	19: 12,901,451	T110P	probably damaging	Het
Olfr313	T	C	11: 58,817,718	S237P	probably damaging	Het
Osgin1	A	G	8: 119,445,289	E274G	probably damaging	Het
Otof	G	A	5: 30,394,181	R343W	probably damaging	Het
Pcdha9	A	T	18: 36,998,345	I156F	probably damaging	Het
Pcsk4	A	G	10: 80,325,381	I233T	possibly damaging	Het
Samd4	A	T	14: 47,074,010	S262C	probably damaging	Het
Snap91	T	C	9: 86,790,154		probably null	Het
Spata31d1a	T	C	13: 59,703,151	N388D	probably benign	Het
St3gal4	A	G	9: 35,053,136	V190A	possibly damaging	Het
Sv2b	T	C	7: 75,117,722	N642S	possibly damaging	Het
Svil	T	A	18: 5,056,810	I561K	probably benign	Het
Tmem201	A	T	4: 149,728,155	Y235N	possibly damaging	Het
Tpx2	T	C	2: 152,869,724	S60P	probably benign	Het
Trpa1	T	C	1: 14,910,746	Y144C	probably benign	Het
U90926	G	A	5: 92,210,020	P91S	probably benign	Het
Utp20	G	T	10: 88,746,934	H2780Q	probably benign	Het
Vmn1r215	T	G	13: 23,076,527	F246V	probably damaging	Het
Vmn2r72	A	G	7: 85,751,130	L237S	probably damaging	Het
Washc5	A	G	15: 59,344,080	S817P	probably damaging	Het
Zbtb24	A	G	10: 41,456,618		probably null	Het
Zfp212	G	A	6: 47,926,862	R127H	probably damaging	Het
Zfp740	G	T	15: 102,208,279		probably null	Het

Other mutations in Cstf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01658:Cstf1	APN	2	172373073	missense	probably benign	0.32
IGL02306:Cstf1	APN	2	172372971	missense	probably benign	0.02
IGL02553:Cstf1	APN	2	172377854	missense	probably benign	0.19
IGL02756:Cstf1	APN	2	172375875	missense	probably damaging	1.00
R0066:Cstf1	UTSW	2	172373056	missense	probably benign	0.04
R0066:Cstf1	UTSW	2	172373056	missense	probably benign	0.04
R0244:Cstf1	UTSW	2	172377710	missense	possibly damaging	0.87
R1448:Cstf1	UTSW	2	172375875	missense	probably damaging	1.00
R1770:Cstf1	UTSW	2	172373063	missense	possibly damaging	0.59
R2055:Cstf1	UTSW	2	172380483	missense	probably benign	0.00
R2146:Cstf1	UTSW	2	172375763	missense	probably damaging	1.00
R3119:Cstf1	UTSW	2	172373070	missense	possibly damaging	0.75
R3701:Cstf1	UTSW	2	172380392	missense	probably benign	0.00
R4816:Cstf1	UTSW	2	172372985	missense	probably damaging	1.00
R4893:Cstf1	UTSW	2	172380524	missense	probably damaging	1.00
R4992:Cstf1	UTSW	2	172377800	missense	probably damaging	1.00
R5743:Cstf1	UTSW	2	172377833	missense	probably damaging	1.00
R6386:Cstf1	UTSW	2	172377896	missense	probably damaging	0.97
R7314:Cstf1	UTSW	2	172373034	missense	probably damaging	1.00
R7843:Cstf1	UTSW	2	172378000	missense	probably damaging	1.00
R7926:Cstf1	UTSW	2	172378000	missense	probably damaging	1.00
X0026:Cstf1	UTSW	2	172375860	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCAGAAAGTGCTTTTGTCCC -3'
(R):5'- CCCAGAGTTTCGCTACAGAG -3'

Sequencing Primer
(F):5'- AAGCCGAAATGTTGCGTTCC -3'
(R):5'- CTACAGAGTCTTTTCCACTTGAGAGG -3'

Posted On

2016-05-10