Mutagenetix > Incidental Mutation

Incidental Mutation 'R4893:Cstf1'

377379

Institutional Source

Beutler Lab

Gene Symbol

Cstf1

Ensembl Gene

ENSMUSG00000027498

Gene Name

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

Synonyms

1700057K18Rik

MMRRC Submission

042498-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.964) question?

Stock #

R4893 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

172212601-172224368 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 172222444 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 401 (R401C)

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: R401C

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

SMART Domains

Protein: ENSMUSP00000112076
Gene: ENSMUSG00000027498
AA Change: R401C

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

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 93.8%

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030J22Rik	A	G	8: 117,697,904 (GRCm39)	I401T	probably damaging	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
Acss1	C	A	2: 150,471,786 (GRCm39)	V323F	probably damaging	Het
Adgrf3	T	G	5: 30,405,476 (GRCm39)	D286A	probably benign	Het
Akap5	T	C	12: 76,376,743 (GRCm39)	V718A	probably damaging	Het
Ankk1	A	G	9: 49,326,983 (GRCm39)	V732A	probably benign	Het
Antxr2	T	A	5: 98,151,931 (GRCm39)	D180V	probably damaging	Het
Arfgef2	T	G	2: 166,708,876 (GRCm39)	F1063V	probably benign	Het
Ascl5	A	T	1: 135,978,917 (GRCm39)	I126F	probably damaging	Het
Aspm	T	A	1: 139,417,577 (GRCm39)		probably null	Het
Atf6b	T	C	17: 34,867,586 (GRCm39)	S100P	probably damaging	Het
Baz2a	C	A	10: 127,959,284 (GRCm39)	H1266Q	possibly damaging	Het
Cdh4	A	T	2: 179,489,212 (GRCm39)		probably benign	Het
Celsr3	C	G	9: 108,726,620 (GRCm39)	S3283C	probably damaging	Het
Clca4b	C	T	3: 144,630,934 (GRCm39)	V309M	possibly damaging	Het
Cnbd2	T	C	2: 156,207,104 (GRCm39)	Y436H	probably damaging	Het
Csnk1a1	T	C	18: 61,718,372 (GRCm39)		probably benign	Het
Cul3	A	G	1: 80,266,567 (GRCm39)	I117T	probably damaging	Het
Dlgap3	A	G	4: 127,088,776 (GRCm39)	D124G	probably damaging	Het
Dnah12	A	G	14: 26,431,325 (GRCm39)	D381G	possibly damaging	Het
Dtna	T	C	18: 23,702,724 (GRCm39)	L85P	probably damaging	Het
Ephb2	A	G	4: 136,387,064 (GRCm39)	I722T	probably damaging	Het
Epn3	A	T	11: 94,382,822 (GRCm39)	F421I	probably damaging	Het
Fam83f	T	A	15: 80,576,156 (GRCm39)	L269H	probably damaging	Het
Fhip2a	T	A	19: 57,370,188 (GRCm39)	H477Q	probably benign	Het
Gata4	G	A	14: 63,439,045 (GRCm39)	A139V	probably benign	Het
Glce	T	C	9: 61,975,777 (GRCm39)	D241G	probably benign	Het
Gm17728	A	T	17: 9,641,063 (GRCm39)	I58F	probably benign	Het
Inhba	A	T	13: 16,201,134 (GRCm39)	D232V	possibly damaging	Het
Itgb2l	C	A	16: 96,229,021 (GRCm39)	R394L	probably benign	Het
Klhl14	T	C	18: 21,690,992 (GRCm39)	Y486C	probably damaging	Het
Krt1	A	G	15: 101,758,555 (GRCm39)	I203T	probably damaging	Het
Lims2	T	C	18: 32,074,864 (GRCm39)		probably null	Het
Lrrc31	T	G	3: 30,733,446 (GRCm39)	I423L	probably benign	Het
Map7d1	C	T	4: 126,127,015 (GRCm39)	D732N	unknown	Het
Mau2	A	T	8: 70,483,290 (GRCm39)		probably null	Het
Mbtps1	G	A	8: 120,244,932 (GRCm39)	R840W	probably damaging	Het
Morn3	T	C	5: 123,175,745 (GRCm39)	I214M	probably damaging	Het
Mrpl44	A	G	1: 79,755,582 (GRCm39)	K63E	probably damaging	Het
Muc20	T	C	16: 32,615,042 (GRCm39)	T112A	possibly damaging	Het
Myo6	T	A	9: 80,136,159 (GRCm39)	L94Q	probably damaging	Het
Nos1	C	A	5: 118,090,942 (GRCm39)	T1423K	possibly damaging	Het
Or2l13	A	G	16: 19,305,653 (GRCm39)	T22A	probably benign	Het
Or2t1	T	C	14: 14,328,852 (GRCm38)	V247A	probably damaging	Het
Pdzd2	T	C	15: 12,385,429 (GRCm39)	T1114A	probably benign	Het
Pgm2	T	C	5: 64,263,283 (GRCm39)	V310A	probably benign	Het
Pi4ka	T	C	16: 17,194,900 (GRCm39)	E166G	probably benign	Het
Pign	A	T	1: 105,574,436 (GRCm39)	D303E	probably damaging	Het
Pik3c3	G	T	18: 30,415,053 (GRCm39)	V149L	probably benign	Het
Pkd1l3	A	T	8: 110,365,026 (GRCm39)	Y1126F	probably benign	Het
Pkd2l1	T	A	19: 44,142,210 (GRCm39)	Q516L	probably benign	Het
Pnliprp2	C	A	19: 58,759,853 (GRCm39)	Q355K	probably benign	Het
Pnpla7	T	A	2: 24,943,688 (GRCm39)	Y1314*	probably null	Het
Ppp1r1b	A	G	11: 98,246,170 (GRCm39)	T51A	possibly damaging	Het
Prkcd	A	T	14: 30,321,382 (GRCm39)	S544T	probably damaging	Het
Pusl1	G	A	4: 155,973,998 (GRCm39)	T252I	probably benign	Het
Rnf44	A	G	13: 54,829,745 (GRCm39)		probably null	Het
Slc24a2	A	T	4: 87,145,145 (GRCm39)	V303E	probably damaging	Het
Slc28a2	T	A	2: 122,285,697 (GRCm39)		probably null	Het
Sox8	T	C	17: 25,787,963 (GRCm39)	D162G	probably damaging	Het
Spag1	T	C	15: 36,197,992 (GRCm39)		probably null	Het
Taar6	T	C	10: 23,861,298 (GRCm39)	I83V	probably benign	Het
Tes	T	A	6: 17,104,595 (GRCm39)	C359S	probably damaging	Het
Vmn2r4	A	T	3: 64,313,676 (GRCm39)	L435H	probably damaging	Het
Zfhx3	G	T	8: 109,683,639 (GRCm39)	D3693Y	unknown	Het
Zfp931	G	A	2: 177,709,996 (GRCm39)	P130L	probably damaging	Het
Zfr	T	G	15: 12,136,628 (GRCm39)	V95G	unknown	Het
Zw10	A	G	9: 48,985,325 (GRCm39)	E587G	possibly damaging	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
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
R9240:Cstf1	UTSW	2	172,217,669 (GRCm39)	missense	probably damaging	1.00
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'- GAACAAACAGGCCTTGGGTG -3'
(R):5'- AGATGGTGCAAGCTGCTCAC -3'

Sequencing Primer
(F):5'- CACATCATCAGGCTAACGTGTTGG -3'
(R):5'- GTGCAAGCTGCTCACTTCCG -3'

Posted On

2016-03-17