Mutagenetix > Incidental Mutation

Incidental Mutation 'R9240:Cstf1'

700668

Institutional Source

Beutler Lab

Gene Symbol

Cstf1

Ensembl Gene

ENSMUSG00000027498

Gene Name

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

Synonyms

1700057K18Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.964) question?

Stock #

R9240 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

172212601-172224368 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 172217669 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 94 (P94Q)

Ref Sequence

ENSEMBL: ENSMUSP00000112076 (fasta)

Gene Model

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

AlphaFold

Q99LC2

Predicted Effect

probably damaging
Transcript: ENSMUST00000116375
AA Change: P94Q

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

SMART Domains

Protein: ENSMUSP00000112076
Gene: ENSMUSG00000027498
AA Change: P94Q

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 damaging
Transcript: ENSMUST00000151511
AA Change: P94Q

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

SMART Domains

Protein: ENSMUSP00000121178
Gene: ENSMUSG00000027498
AA Change: P94Q

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.6%

Validation Efficiency

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl1	A	G	8: 46,966,406 (GRCm39)	I187V	probably benign	Het
Adam7	C	A	14: 68,747,208 (GRCm39)	V584L	probably benign	Het
Arsg	T	A	11: 109,463,093 (GRCm39)	V451E	probably benign	Het
Btbd8	A	G	5: 107,600,034 (GRCm39)	D175G	probably benign	Het
Cacnb3	C	T	15: 98,540,486 (GRCm39)	P338L	probably benign	Het
Cars1	G	T	7: 143,138,533 (GRCm39)	P218Q	probably benign	Het
Ccdc180	T	C	4: 45,917,566 (GRCm39)		probably null	Het
Cdh23	C	T	10: 60,215,044 (GRCm39)	D1431N	probably benign	Het
Cenpf	A	T	1: 189,389,167 (GRCm39)	V1555D	probably benign	Het
Creb3l2	T	C	6: 37,311,506 (GRCm39)	N428D	possibly damaging	Het
Crebbp	A	T	16: 3,917,537 (GRCm39)		probably null	Het
Dis3l	A	G	9: 64,217,447 (GRCm39)		probably null	Het
Dlc1	A	T	8: 37,052,005 (GRCm39)	D124E	probably benign	Het
Dpysl3	C	T	18: 43,487,867 (GRCm39)	V159I	probably benign	Het
Eea1	T	G	10: 95,776,824 (GRCm39)	I5S	probably benign	Het
F7	A	T	8: 13,085,173 (GRCm39)	T400S	probably damaging	Het
Fbxo38	C	A	18: 62,651,632 (GRCm39)	E558*	probably null	Het
Fcgr2b	C	T	1: 170,797,042 (GRCm39)		probably null	Het
Fktn	G	A	4: 53,734,854 (GRCm39)	G125D	probably benign	Het
Flt1	T	C	5: 147,618,676 (GRCm39)	N220D	probably benign	Het
Fzd9	A	G	5: 135,278,812 (GRCm39)	Y358H	probably damaging	Het
Gcc2	C	T	10: 58,106,398 (GRCm39)	Q545*	probably null	Het
Gkn3	T	C	6: 87,365,789 (GRCm39)	N10S	probably benign	Het
Gls	C	G	1: 52,207,553 (GRCm39)	V604L	probably benign	Het
Gtf2i	T	A	5: 134,292,619 (GRCm39)	Q375L	probably benign	Het
Hells	A	G	19: 38,935,289 (GRCm39)	M320V	possibly damaging	Het
Ints3	T	C	3: 90,310,410 (GRCm39)	S497G	possibly damaging	Het
Iqub	C	A	6: 24,505,622 (GRCm39)	L95F	probably benign	Het
Mat1a	G	A	14: 40,827,573 (GRCm39)	C9Y	probably benign	Het
Mfsd4b5	A	G	10: 39,851,099 (GRCm39)	L103P	probably damaging	Het
Ms4a14	T	C	19: 11,281,864 (GRCm39)	I231M	possibly damaging	Het
Muc16	T	C	9: 18,449,309 (GRCm39)	T7580A	unknown	Het
Myb	A	T	10: 21,016,500 (GRCm39)	L670Q	probably damaging	Het
Nisch	A	G	14: 30,906,988 (GRCm39)	L236P	unknown	Het
Or5d38	A	C	2: 87,955,231 (GRCm39)	F33V	probably benign	Het
Plscr4	A	T	9: 92,366,934 (GRCm39)	M183L	probably benign	Het
Polr1a	T	A	6: 71,940,661 (GRCm39)	C998*	probably null	Het
Prokr2	A	T	2: 132,223,377 (GRCm39)	V55E	possibly damaging	Het
Prr12	A	T	7: 44,684,075 (GRCm39)	V1655E	probably damaging	Het
Rsf1	GGCGGCGGC	GGCGGCGGCCGCGGCGGC	7: 97,229,119 (GRCm39)		probably benign	Het
Rspo1	C	T	4: 124,885,132 (GRCm39)	L3F	probably benign	Het
Rtn4rl1	C	A	11: 75,156,082 (GRCm39)	D171E	probably damaging	Het
Ryr1	A	G	7: 28,743,313 (GRCm39)	F3895L	probably damaging	Het
Scn8a	G	T	15: 100,915,068 (GRCm39)	G1211*	probably null	Het
Slc4a11	C	T	2: 130,533,664 (GRCm39)	A100T	probably damaging	Het
Smarcd3	T	A	5: 24,801,831 (GRCm39)	M103L	probably benign	Het
Smg1	A	T	7: 117,739,031 (GRCm39)	S3458T	probably benign	Het
Smg6	C	T	11: 74,825,884 (GRCm39)	R738W	probably damaging	Het
Spef2	G	A	15: 9,578,401 (GRCm39)	Q1708*	probably null	Het
Taf2	A	T	15: 54,926,464 (GRCm39)	V162E	probably null	Het
Tbc1d23	A	T	16: 57,032,748 (GRCm39)	N154K	possibly damaging	Het
Tbx3	A	G	5: 119,818,960 (GRCm39)	S532G	probably benign	Het
Tedc1	T	C	12: 113,121,310 (GRCm39)	I177T	probably benign	Het
Tnrc6b	G	C	15: 80,764,262 (GRCm39)	G588A	probably damaging	Het
Top2a	T	A	11: 98,901,368 (GRCm39)	K519*	probably null	Het
Trim47	T	A	11: 115,999,148 (GRCm39)	M243L	probably benign	Het
Ttn	A	T	2: 76,641,865 (GRCm39)		probably null	Het
Uggt1	T	C	1: 36,221,696 (GRCm39)	E624G	possibly damaging	Het
Vmn1r43	G	A	6: 89,846,877 (GRCm39)	T203M	probably damaging	Het
Vmn2r9	A	G	5: 108,996,099 (GRCm39)	V183A	possibly damaging	Het
Zfp212	T	A	6: 47,906,032 (GRCm39)	V197E	probably benign	Het

Other mutations in Cstf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01658:Cstf1	APN	2	172,214,993 (GRCm39)	missense	probably benign	0.32
IGL02306:Cstf1	APN	2	172,214,891 (GRCm39)	missense	probably benign	0.02
IGL02553:Cstf1	APN	2	172,219,774 (GRCm39)	missense	probably benign	0.19
IGL02756:Cstf1	APN	2	172,217,795 (GRCm39)	missense	probably damaging	1.00
R0066:Cstf1	UTSW	2	172,214,976 (GRCm39)	missense	probably benign	0.04
R0066:Cstf1	UTSW	2	172,214,976 (GRCm39)	missense	probably benign	0.04
R0244:Cstf1	UTSW	2	172,219,630 (GRCm39)	missense	possibly damaging	0.87
R1448:Cstf1	UTSW	2	172,217,795 (GRCm39)	missense	probably damaging	1.00
R1770:Cstf1	UTSW	2	172,214,983 (GRCm39)	missense	possibly damaging	0.59
R2055:Cstf1	UTSW	2	172,222,403 (GRCm39)	missense	probably benign	0.00
R2146:Cstf1	UTSW	2	172,217,683 (GRCm39)	missense	probably damaging	1.00
R3119:Cstf1	UTSW	2	172,214,990 (GRCm39)	missense	possibly damaging	0.75
R3701:Cstf1	UTSW	2	172,222,312 (GRCm39)	missense	probably benign	0.00
R4816:Cstf1	UTSW	2	172,214,905 (GRCm39)	missense	probably damaging	1.00
R4893:Cstf1	UTSW	2	172,222,444 (GRCm39)	missense	probably damaging	1.00
R4991:Cstf1	UTSW	2	172,219,720 (GRCm39)	missense	probably damaging	1.00
R4992:Cstf1	UTSW	2	172,219,720 (GRCm39)	missense	probably damaging	1.00
R5743:Cstf1	UTSW	2	172,219,753 (GRCm39)	missense	probably damaging	1.00
R6386:Cstf1	UTSW	2	172,219,816 (GRCm39)	missense	probably damaging	0.97
R7314:Cstf1	UTSW	2	172,214,954 (GRCm39)	missense	probably damaging	1.00
R7843:Cstf1	UTSW	2	172,219,920 (GRCm39)	missense	probably damaging	1.00
R8212:Cstf1	UTSW	2	172,219,872 (GRCm39)	missense	probably damaging	1.00
R8930:Cstf1	UTSW	2	172,217,623 (GRCm39)	missense	probably benign
R8932:Cstf1	UTSW	2	172,217,623 (GRCm39)	missense	probably benign
R9089:Cstf1	UTSW	2	172,217,807 (GRCm39)	missense
R9545:Cstf1	UTSW	2	172,212,885 (GRCm39)	intron	probably benign
R9610:Cstf1	UTSW	2	172,214,984 (GRCm39)	missense	probably benign	0.33
R9611:Cstf1	UTSW	2	172,214,984 (GRCm39)	missense	probably benign	0.33
X0026:Cstf1	UTSW	2	172,217,780 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTAGAGCAAGTGAATGGCTGTG -3'
(R):5'- TACCTCAATTGGCATGGCAC -3'

Sequencing Primer
(F):5'- CGCCTCACATAGCATGGAATGG -3'
(R):5'- ACCTCAATTGGCATGGCACTTTTG -3'

Posted On

2022-02-07