Incidental Mutation 'R0332:Cstf3'
ID 35905
Institutional Source Beutler Lab
Gene Symbol Cstf3
Ensembl Gene ENSMUSG00000027176
Gene Name cleavage stimulation factor, 3' pre-RNA, subunit 3
Synonyms 4732468G05Rik
MMRRC Submission 038541-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.966) question?
Stock # R0332 (G1)
Quality Score 194
Status Validated
Chromosome 2
Chromosomal Location 104420868-104495774 bp(+) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to T at 104476812 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000028599 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028599]
AlphaFold Q99LI7
PDB Structure Crystal Structure of the HAT-C domain of murine CstF-77 [X-RAY DIFFRACTION]
Crystal structure of HAT domain of murine CstF-77 [X-RAY DIFFRACTION]
Predicted Effect probably null
Transcript: ENSMUST00000028599
SMART Domains Protein: ENSMUSP00000028599
Gene: ENSMUSG00000027176

DomainStartEndE-ValueType
low complexity region 10 27 N/A INTRINSIC
HAT 45 77 4.67e-8 SMART
HAT 79 110 5.04e-4 SMART
HAT 117 152 1.38e-1 SMART
HAT 163 196 4.39e-4 SMART
HAT 229 261 1.19e0 SMART
HAT 271 303 9.12e0 SMART
HAT 319 352 2.73e0 SMART
HAT 354 387 7.31e-1 SMART
HAT 424 456 2.37e0 SMART
HAT 458 494 1.46e0 SMART
low complexity region 597 619 N/A INTRINSIC
Meta Mutation Damage Score 0.9594 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 96.9%
  • 20x: 94.6%
Validation Efficiency 100% (63/63)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is one of three (including CSTF1 and CSTF2) cleavage stimulation factors that combine to form the cleavage stimulation factor complex (CSTF). This complex is involved in the polyadenylation and 3' end cleavage of pre-mRNAs. The encoded protein functions as a homodimer and interacts directly with both CSTF1 and CSTF2 in the CSTF complex. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aggf1 T C 13: 95,505,954 (GRCm39) E211G probably damaging Het
Aox3 A G 1: 58,181,910 (GRCm39) N299S probably benign Het
Arhgef7 T A 8: 11,874,701 (GRCm39) Y777* probably null Het
Atad1 A G 19: 32,679,934 (GRCm39) probably benign Het
Bltp3a T C 17: 28,112,268 (GRCm39) probably null Het
Bop1 A G 15: 76,340,187 (GRCm39) Y130H probably damaging Het
Ccar2 G T 14: 70,379,384 (GRCm39) probably benign Het
Ccdc110 G T 8: 46,396,001 (GRCm39) E631* probably null Het
Cfap54 C T 10: 92,871,319 (GRCm39) D634N probably damaging Het
Cldn8 C T 16: 88,359,246 (GRCm39) silent Het
Dgkq T C 5: 108,802,965 (GRCm39) probably benign Het
Dsp T A 13: 38,366,204 (GRCm39) L546* probably null Het
Eif3g A T 9: 20,809,280 (GRCm39) probably benign Het
Fam228a T A 12: 4,785,018 (GRCm39) I38F probably damaging Het
Fto A T 8: 92,128,518 (GRCm39) probably benign Het
Gcnt4 G T 13: 97,083,018 (GRCm39) V105L probably benign Het
Gm10644 A G 8: 84,660,210 (GRCm39) L45S possibly damaging Het
Gm7275 A T 16: 47,894,132 (GRCm39) noncoding transcript Het
Gm7579 T C 7: 141,766,112 (GRCm39) S173P unknown Het
Gpatch8 T C 11: 102,372,668 (GRCm39) N290S unknown Het
Grep1 A T 17: 23,933,578 (GRCm39) probably benign Het
Hspb8 T A 5: 116,547,532 (GRCm39) D150V probably damaging Het
Ifitm1 T C 7: 140,548,366 (GRCm39) probably benign Het
Ifnl2 T C 7: 28,208,756 (GRCm39) T99A possibly damaging Het
Ints4 T C 7: 97,166,925 (GRCm39) L577P probably damaging Het
Jph4 T C 14: 55,351,467 (GRCm39) E183G possibly damaging Het
Loxhd1 T A 18: 77,471,526 (GRCm39) probably null Het
Mug1 G A 6: 121,826,856 (GRCm39) probably null Het
Nlrp2 C A 7: 5,320,629 (GRCm39) C836F probably damaging Het
Nup210l G T 3: 90,039,616 (GRCm39) probably benign Het
Optn C T 2: 5,028,926 (GRCm39) G526R probably damaging Het
Or51h1 A T 7: 102,308,672 (GRCm39) I215F probably damaging Het
Or7e178 A G 9: 20,225,352 (GRCm39) L288S probably benign Het
Phykpl A G 11: 51,477,502 (GRCm39) E98G probably benign Het
Pikfyve A G 1: 65,303,558 (GRCm39) N1648D probably benign Het
Plppr5 A T 3: 117,465,581 (GRCm39) R277S probably benign Het
Ppp1r36 T A 12: 76,474,677 (GRCm39) F86L probably benign Het
Ptgis A T 2: 167,056,753 (GRCm39) L278Q probably damaging Het
Rasa2 A T 9: 96,488,229 (GRCm39) F90Y probably damaging Het
Setd3 T C 12: 108,073,838 (GRCm39) K480E probably benign Het
Slc66a1 C T 4: 139,027,610 (GRCm39) S244N possibly damaging Het
Snx2 T C 18: 53,345,983 (GRCm39) F389L probably benign Het
Sulf2 G A 2: 165,931,119 (GRCm39) T296M probably benign Het
Supt16 A T 14: 52,418,614 (GRCm39) H214Q probably damaging Het
Tbx4 A T 11: 85,789,356 (GRCm39) M12L probably benign Het
Tlk1 A T 2: 70,575,909 (GRCm39) probably null Het
Tmprss7 C T 16: 45,501,001 (GRCm39) V267M probably benign Het
Tmub2 G A 11: 102,179,174 (GRCm39) R291H probably damaging Het
Trpm2 A T 10: 77,783,822 (GRCm39) V217E probably damaging Het
Try10 T A 6: 41,331,154 (GRCm39) V10E probably benign Het
Ttn A G 2: 76,596,226 (GRCm39) V20229A probably benign Het
Ttn A C 2: 76,608,538 (GRCm39) probably null Het
Usf2 T A 7: 30,654,604 (GRCm39) M199L possibly damaging Het
Usp37 A T 1: 74,534,869 (GRCm39) S26T possibly damaging Het
Vrk1 G C 12: 106,024,884 (GRCm39) Q253H probably benign Het
Wdr72 A T 9: 74,064,534 (GRCm39) probably null Het
Xrra1 T C 7: 99,525,449 (GRCm39) F123L probably damaging Het
Zfhx3 T C 8: 109,673,255 (GRCm39) I1435T probably damaging Het
Zfp712 T A 13: 67,188,877 (GRCm39) H550L probably damaging Het
Other mutations in Cstf3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01911:Cstf3 APN 2 104,476,976 (GRCm39) missense probably damaging 1.00
IGL02734:Cstf3 APN 2 104,439,539 (GRCm39) splice site probably benign
IGL03025:Cstf3 APN 2 104,439,276 (GRCm39) missense possibly damaging 0.82
Amanita UTSW 2 104,420,926 (GRCm39) start gained probably benign
Ptomaine UTSW 2 104,479,807 (GRCm39) missense probably benign
R0043:Cstf3 UTSW 2 104,475,430 (GRCm39) splice site probably benign
R0189:Cstf3 UTSW 2 104,482,791 (GRCm39) missense probably damaging 1.00
R0499:Cstf3 UTSW 2 104,479,950 (GRCm39) missense possibly damaging 0.95
R1476:Cstf3 UTSW 2 104,478,564 (GRCm39) missense possibly damaging 0.82
R1677:Cstf3 UTSW 2 104,494,623 (GRCm39) intron probably benign
R1881:Cstf3 UTSW 2 104,484,563 (GRCm39) missense probably benign
R1916:Cstf3 UTSW 2 104,486,101 (GRCm39) missense possibly damaging 0.90
R3720:Cstf3 UTSW 2 104,483,431 (GRCm39) splice site probably benign
R3813:Cstf3 UTSW 2 104,439,466 (GRCm39) missense probably damaging 1.00
R5155:Cstf3 UTSW 2 104,482,830 (GRCm39) missense probably benign
R5304:Cstf3 UTSW 2 104,493,735 (GRCm39) nonsense probably null
R5564:Cstf3 UTSW 2 104,439,347 (GRCm39) intron probably benign
R5869:Cstf3 UTSW 2 104,489,585 (GRCm39) splice site probably null
R6172:Cstf3 UTSW 2 104,481,987 (GRCm39) missense probably damaging 1.00
R6747:Cstf3 UTSW 2 104,477,112 (GRCm39) missense probably damaging 1.00
R6841:Cstf3 UTSW 2 104,486,076 (GRCm39) missense probably benign 0.22
R6959:Cstf3 UTSW 2 104,479,807 (GRCm39) missense probably benign
R7139:Cstf3 UTSW 2 104,483,409 (GRCm39) missense possibly damaging 0.87
R7143:Cstf3 UTSW 2 104,476,961 (GRCm39) missense probably benign 0.01
R7350:Cstf3 UTSW 2 104,439,301 (GRCm39) missense probably damaging 1.00
R7794:Cstf3 UTSW 2 104,420,926 (GRCm39) start gained probably benign
R8315:Cstf3 UTSW 2 104,420,926 (GRCm39) start gained probably benign
R8873:Cstf3 UTSW 2 104,475,355 (GRCm39) missense possibly damaging 0.92
R9188:Cstf3 UTSW 2 104,439,223 (GRCm39) missense possibly damaging 0.68
R9339:Cstf3 UTSW 2 104,493,778 (GRCm39) missense probably damaging 1.00
R9612:Cstf3 UTSW 2 104,483,370 (GRCm39) missense possibly damaging 0.80
R9762:Cstf3 UTSW 2 104,494,684 (GRCm39) nonsense probably null
R9801:Cstf3 UTSW 2 104,421,024 (GRCm39) missense possibly damaging 0.73
X0013:Cstf3 UTSW 2 104,489,622 (GRCm39) missense possibly damaging 0.58
Predicted Primers PCR Primer
(F):5'- GCCTGTCTTCAGTGACTCTAACTTGG -3'
(R):5'- ACACAACCTCGTTGATAAACTCTTCGG -3'

Sequencing Primer
(F):5'- ccaggctgcccttgaac -3'
(R):5'- GTTGATAAACTCTTCGGACAGCAG -3'
Posted On 2013-05-09