Incidental Mutation 'IGL01160:Cstf2'
ID54107
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cstf2
Ensembl Gene ENSMUSG00000031256
Gene Namecleavage stimulation factor, 3' pre-RNA subunit 2
SynonymsC630034J23Rik, Cstf64
Accession Numbers

Genbank: NM_133196; MGI: 1343054

Is this an essential gene? Not available question?
Stock #IGL01160
Quality Score
Status
ChromosomeX
Chromosomal Location134059187-134086819 bp(+) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) T to A at 134060729 bp
ZygosityHeterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000033609] [ENSMUST00000113286] [ENSMUST00000113287] [ENSMUST00000144483]
Predicted Effect probably benign
Transcript: ENSMUST00000033609
SMART Domains Protein: ENSMUSP00000033609
Gene: ENSMUSG00000031256

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210016F16Rik A G 13: 58,381,976 V274A probably damaging Het
Atp11a A G 8: 12,844,609 T188A probably damaging Het
Bfsp2 A G 9: 103,480,168 V20A probably benign Het
Btn1a1 G A 13: 23,461,737 T154M possibly damaging Het
Ccdc117 T C 11: 5,531,532 S200G probably benign Het
Col24a1 G A 3: 145,507,713 G1358S probably damaging Het
Crlf2 T C 5: 109,557,570 T40A possibly damaging Het
Dcdc2a A G 13: 25,119,329 D281G probably benign Het
Dmd T C X: 83,924,961 L1855P probably damaging Het
Dnajc5g T C 5: 31,110,185 V112A probably benign Het
Dnmt1 G A 9: 20,917,319 P828S possibly damaging Het
Dock3 A T 9: 106,906,688 S268R probably damaging Het
Dpep2 C T 8: 105,986,444 V440M possibly damaging Het
F8 A T X: 75,288,061 M741K probably damaging Het
Fermt3 C T 19: 7,003,258 probably null Het
Fosb A G 7: 19,307,114 probably null Het
Gm14085 A C 2: 122,524,796 probably null Het
Gm3238 C A 10: 77,770,883 probably benign Het
Hyal5 T A 6: 24,876,481 S118T possibly damaging Het
Igf2r T C 17: 12,704,775 D1140G possibly damaging Het
Ighmbp2 G T 19: 3,276,750 probably benign Het
Irf3 C A 7: 44,998,796 D28E possibly damaging Het
Ly6i A T 15: 74,980,032 I96N possibly damaging Het
Macrod2 T C 2: 140,825,042 probably benign Het
Olfr1222 A T 2: 89,125,728 M1K probably null Het
Olfr124 A G 17: 37,806,050 R302G probably benign Het
Olfr1309 A G 2: 111,983,933 L47P probably damaging Het
Olfr67 C T 7: 103,787,636 G214R probably damaging Het
Otof A T 5: 30,381,535 M1128K probably benign Het
Parp9 A T 16: 35,947,998 I183F probably damaging Het
Pbsn T C X: 77,842,571 N147S probably benign Het
Pcf11 A G 7: 92,661,686 S365P possibly damaging Het
Pcnx4 T G 12: 72,579,377 V1119G probably damaging Het
Rsf1 C T 7: 97,685,584 T1308M probably damaging Het
Sidt2 A G 9: 45,942,726 L647P probably damaging Het
Slc7a8 A G 14: 54,735,124 V280A probably benign Het
Spg20 T A 3: 55,121,756 F323I probably damaging Het
Supt16 A T 14: 52,183,132 D70E probably benign Het
Tmc4 T C 7: 3,675,518 Y38C possibly damaging Het
Tmco5b G T 2: 113,287,798 probably benign Het
Trav10 G A 14: 53,505,782 probably benign Het
Vmn2r28 A T 7: 5,486,478 M454K probably damaging Het
Vmn2r85 T C 10: 130,418,821 T665A probably benign Het
Yipf7 T C 5: 69,519,317 I160V probably benign Het
Zc3h18 T C 8: 122,408,250 probably benign Het
Zfp429 G A 13: 67,391,013 S91L probably damaging Het
Other mutations in Cstf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00469:Cstf2 APN X 134074156 missense probably damaging 1.00
IGL03345:Cstf2 APN X 134061045 missense probably damaging 1.00
Z1177:Cstf2 UTSW X 134062488 critical splice donor site probably null
Posted On2013-06-28