Incidental Mutation 'IGL00469:Cstf2'
ID 3093
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 # IGL00469
Quality Score
Status
Chromosome X
Chromosomal Location 132959936-132987568 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 132974905 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 354 (H354Q)
Ref Sequence ENSEMBL: ENSMUSP00000108911 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033609] [ENSMUST00000113286] [ENSMUST00000113287] [ENSMUST00000136510]
AlphaFold Q8BIQ5
Predicted Effect probably damaging
Transcript: ENSMUST00000033609
AA Change: H354Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000033609
Gene: ENSMUSG00000031256
AA Change: H354Q

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 damaging
Transcript: ENSMUST00000113286
AA Change: H354Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000108911
Gene: ENSMUSG00000031256
AA Change: H354Q

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 damaging
Transcript: ENSMUST00000113287
AA Change: H328Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000108912
Gene: ENSMUSG00000031256
AA Change: H328Q

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 damaging
Transcript: ENSMUST00000136510
AA Change: H140Q

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000117806
Gene: ENSMUSG00000031256
AA Change: H140Q

DomainStartEndE-ValueType
low complexity region 17 43 N/A INTRINSIC
low complexity region 134 151 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149658
Predicted Effect unknown
Transcript: ENSMUST00000156778
AA Change: H219Q
SMART Domains Protein: ENSMUSP00000117592
Gene: ENSMUSG00000031256
AA Change: H219Q

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175431
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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cacna2d4 A G 6: 119,245,239 (GRCm39) I316V probably damaging Het
Ccdc9b T C 2: 118,590,170 (GRCm39) S225G possibly damaging Het
Ccnb1ip1 G A 14: 51,029,556 (GRCm39) R169C probably damaging Het
Crip1 G T 12: 113,115,755 (GRCm39) D59Y probably damaging Het
Dcaf8l C A X: 88,449,944 (GRCm39) V62F possibly damaging Het
Dchs1 A T 7: 105,404,468 (GRCm39) D2691E probably damaging Het
Dock2 T C 11: 34,179,603 (GRCm39) probably benign Het
Fam199x T C X: 135,972,860 (GRCm39) I222T probably damaging Het
Flt1 A T 5: 147,540,415 (GRCm39) L758Q probably damaging Het
Fxr2 T G 11: 69,532,965 (GRCm39) L181R possibly damaging Het
Gpr158 G T 2: 21,751,606 (GRCm39) probably benign Het
Hsd3b9 T A 3: 98,363,716 (GRCm39) Q43L probably benign Het
Lancl2 T C 6: 57,711,011 (GRCm39) W390R probably damaging Het
Pola1 C T X: 92,638,391 (GRCm39) V459I possibly damaging Het
Pola1 T C X: 92,604,991 (GRCm39) T981A probably damaging Het
Prss44 T C 9: 110,644,557 (GRCm39) S222P probably benign Het
Sec16a T C 2: 26,318,312 (GRCm39) N1593S probably damaging Het
Slco2b1 A G 7: 99,309,318 (GRCm39) I671T probably benign Het
Tm9sf4 T C 2: 153,044,275 (GRCm39) I509T probably damaging Het
Trpc6 A G 9: 8,626,702 (GRCm39) T351A probably benign Het
Utrn T C 10: 12,282,273 (GRCm39) Q768R probably damaging Het
Zfp984 C T 4: 147,839,343 (GRCm39) G503S probably benign Het
Other mutations in Cstf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01160:Cstf2 APN X 132,961,478 (GRCm39) unclassified probably benign
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 2012-04-20