Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01160:Cstf2'

54107

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cstf2

Ensembl Gene

ENSMUSG00000031256

Gene Name

cleavage stimulation factor, 3' pre-RNA subunit 2

Synonyms

Cstf64, C630034J23Rik

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL01160

Quality Score

Status

Chromosome

Chromosomal Location

132959936-132987568 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to A at 132961478 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033609] [ENSMUST00000113286] [ENSMUST00000113287] [ENSMUST00000144483]

AlphaFold

Q8BIQ5

Predicted Effect

probably benign
Transcript: ENSMUST00000033609

SMART Domains

Protein: ENSMUSP00000033609
Gene: ENSMUSG00000031256

Domain	Start	End	E-Value	Type
RRM	17	90	1.55e-29	SMART
Pfam:CSTF2_hinge	112	191	9.1e-34	PFAM
low complexity region	222	232	N/A	INTRINSIC
low complexity region	251	277	N/A	INTRINSIC
low complexity region	348	365	N/A	INTRINSIC
low complexity region	415	427	N/A	INTRINSIC
low complexity region	434	466	N/A	INTRINSIC
low complexity region	472	484	N/A	INTRINSIC
low complexity region	507	532	N/A	INTRINSIC
Pfam:CSTF_C	536	576	2.4e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113286

SMART Domains

Protein: ENSMUSP00000108911
Gene: ENSMUSG00000031256

Domain	Start	End	E-Value	Type
RRM	17	90	1.55e-29	SMART
Pfam:CSTF2_hinge	109	193	1.1e-34	PFAM
low complexity region	222	232	N/A	INTRINSIC
low complexity region	251	277	N/A	INTRINSIC
low complexity region	348	365	N/A	INTRINSIC
low complexity region	415	427	N/A	INTRINSIC
low complexity region	434	466	N/A	INTRINSIC
low complexity region	472	484	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113287

SMART Domains

Protein: ENSMUSP00000108912
Gene: ENSMUSG00000031256

Domain	Start	End	E-Value	Type
RRM	17	90	1.55e-29	SMART
Pfam:CSTF2_hinge	109	193	9.6e-35	PFAM
low complexity region	222	232	N/A	INTRINSIC
low complexity region	251	277	N/A	INTRINSIC
low complexity region	322	339	N/A	INTRINSIC
low complexity region	389	401	N/A	INTRINSIC
low complexity region	408	440	N/A	INTRINSIC
low complexity region	446	458	N/A	INTRINSIC
low complexity region	481	506	N/A	INTRINSIC
Pfam:CSTF_C	508	553	1.2e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000144483

SMART Domains

Protein: ENSMUSP00000114837
Gene: ENSMUSG00000031256

Domain	Start	End	E-Value	Type
RRM	6	74	1.05e-2	SMART
Pfam:CSTF2_hinge	93	177	1.2e-35	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148080

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149658

Predicted Effect

probably benign
Transcript: ENSMUST00000156778

SMART Domains

Protein: ENSMUSP00000117592
Gene: ENSMUSG00000031256

Domain	Start	End	E-Value	Type
Pfam:CSTF2_hinge	1	34	8.7e-14	PFAM
low complexity region	65	75	N/A	INTRINSIC
low complexity region	94	120	N/A	INTRINSIC
low complexity region	214	231	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear protein with an RRM (RNA recognition motif) domain. The protein is a member of the cleavage stimulation factor (CSTF) complex that is involved in the 3' end cleavage and polyadenylation of pre-mRNAs. Specifically, this protein binds GU-rich elements within the 3'-untranslated region of mRNAs. [provided by RefSeq, Jul 2008]
PHENOTYPE: Embryonic stem cells (ESCs) hemizygous for a gene trap allele show a specific loss of differentiation potential toward the endodermal lineage and a severe defect in cardiomyocyte differentiation. Mutant ESCs differentiated into embryoid bodies fail to cavitate. [provided by MGI curators]

Allele List at MGI

All alleles(6) : Targeted, other(2) Gene trapped(4)

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp11a	A	G	8: 12,894,609 (GRCm39)	T188A	probably damaging	Het
Bfsp2	A	G	9: 103,357,367 (GRCm39)	V20A	probably benign	Het
Btn1a1	G	A	13: 23,645,907 (GRCm39)	T154M	possibly damaging	Het
Ccdc117	T	C	11: 5,481,532 (GRCm39)	S200G	probably benign	Het
Col24a1	G	A	3: 145,213,468 (GRCm39)	G1358S	probably damaging	Het
Crlf2	T	C	5: 109,705,436 (GRCm39)	T40A	possibly damaging	Het
Dcdc2a	A	G	13: 25,303,312 (GRCm39)	D281G	probably benign	Het
Dmd	T	C	X: 82,968,567 (GRCm39)	L1855P	probably damaging	Het
Dnajc5g	T	C	5: 31,267,529 (GRCm39)	V112A	probably benign	Het
Dnmt1	G	A	9: 20,828,615 (GRCm39)	P828S	possibly damaging	Het
Dock3	A	T	9: 106,783,887 (GRCm39)	S268R	probably damaging	Het
Dpep2	C	T	8: 106,713,076 (GRCm39)	V440M	possibly damaging	Het
F8	A	T	X: 74,331,667 (GRCm39)	M741K	probably damaging	Het
Fermt3	C	T	19: 6,980,626 (GRCm39)		probably null	Het
Fosb	A	G	7: 19,041,039 (GRCm39)		probably null	Het
Gm3238	C	A	10: 77,606,717 (GRCm39)		probably benign	Het
Hyal5	T	A	6: 24,876,480 (GRCm39)	S118T	possibly damaging	Het
Igf2r	T	C	17: 12,923,662 (GRCm39)	D1140G	possibly damaging	Het
Ighmbp2	G	T	19: 3,326,750 (GRCm39)		probably benign	Het
Irf3	C	A	7: 44,648,220 (GRCm39)	D28E	possibly damaging	Het
Ly6i	A	T	15: 74,851,881 (GRCm39)	I96N	possibly damaging	Het
Macrod2	T	C	2: 140,666,962 (GRCm39)		probably benign	Het
Or2b4	A	G	17: 38,116,941 (GRCm39)	R302G	probably benign	Het
Or4c117	A	T	2: 88,956,072 (GRCm39)	M1K	probably null	Het
Or4f15	A	G	2: 111,814,278 (GRCm39)	L47P	probably damaging	Het
Or52z1	C	T	7: 103,436,843 (GRCm39)	G214R	probably damaging	Het
Otof	A	T	5: 30,538,879 (GRCm39)	M1128K	probably benign	Het
Parp9	A	T	16: 35,768,368 (GRCm39)	I183F	probably damaging	Het
Pbsn	T	C	X: 76,886,177 (GRCm39)	N147S	probably benign	Het
Pcf11	A	G	7: 92,310,894 (GRCm39)	S365P	possibly damaging	Het
Pcnx4	T	G	12: 72,626,151 (GRCm39)	V1119G	probably damaging	Het
Qng1	A	G	13: 58,529,790 (GRCm39)	V274A	probably damaging	Het
Rsf1	C	T	7: 97,334,791 (GRCm39)	T1308M	probably damaging	Het
Sidt2	A	G	9: 45,854,024 (GRCm39)	L647P	probably damaging	Het
Slc28a2b	A	C	2: 122,355,277 (GRCm39)		probably null	Het
Slc7a8	A	G	14: 54,972,581 (GRCm39)	V280A	probably benign	Het
Spart	T	A	3: 55,029,177 (GRCm39)	F323I	probably damaging	Het
Supt16	A	T	14: 52,420,589 (GRCm39)	D70E	probably benign	Het
Tmc4	T	C	7: 3,678,517 (GRCm39)	Y38C	possibly damaging	Het
Tmco5b	G	T	2: 113,118,143 (GRCm39)		probably benign	Het
Trav10	G	A	14: 53,743,239 (GRCm39)		probably benign	Het
Vmn2r28	A	T	7: 5,489,477 (GRCm39)	M454K	probably damaging	Het
Vmn2r85	T	C	10: 130,254,690 (GRCm39)	T665A	probably benign	Het
Yipf7	T	C	5: 69,676,660 (GRCm39)	I160V	probably benign	Het
Zc3h18	T	C	8: 123,134,989 (GRCm39)		probably benign	Het
Zfp429	G	A	13: 67,539,132 (GRCm39)	S91L	probably damaging	Het

Other mutations in Cstf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00469:Cstf2	APN	X	132,974,905 (GRCm39)	missense	probably damaging	1.00
IGL03345:Cstf2	APN	X	132,961,794 (GRCm39)	missense	probably damaging	1.00
Z1177:Cstf2	UTSW	X	132,963,237 (GRCm39)	critical splice donor site	probably null

Posted On

2013-06-28