Incidental Mutation 'R5564:Cstf3'
ID 436726
Institutional Source Beutler Lab
Gene Symbol Cstf3
Ensembl Gene ENSMUSG00000027176
Gene Name cleavage stimulation factor, 3' pre-RNA, subunit 3
Synonyms 4732468G05Rik
MMRRC Submission 043121-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.966) question?
Stock # R5564 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 104420868-104495774 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to A at 104439347 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 benign
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122900
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137961
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.5%
Validation Efficiency 98% (57/58)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm2 T C 3: 59,659,513 (GRCm39) V322A probably benign Het
Abca8b G T 11: 109,825,407 (GRCm39) L1598M probably benign Het
Adam4 T C 12: 81,466,348 (GRCm39) T758A probably benign Het
B3galnt2 T C 13: 14,169,814 (GRCm39) I424T probably damaging Het
Cacna1g T C 11: 94,321,312 (GRCm39) Y1316C probably damaging Het
Cacna2d1 T C 5: 16,517,517 (GRCm39) S388P probably damaging Het
Ccdc157 A G 11: 4,098,765 (GRCm39) L247S probably damaging Het
Cdh8 A G 8: 99,757,498 (GRCm39) I700T possibly damaging Het
Cdhr3 G T 12: 33,098,985 (GRCm39) Y535* probably null Het
Clasp2 T C 9: 113,641,836 (GRCm39) probably null Het
Col16a1 T A 4: 129,947,151 (GRCm39) D165E probably damaging Het
Col9a1 A T 1: 24,234,436 (GRCm39) probably benign Het
Cpa3 A T 3: 20,296,307 (GRCm39) I10N possibly damaging Het
Dnah3 C A 7: 119,570,689 (GRCm39) probably null Het
E2f6 T C 12: 16,874,706 (GRCm39) C263R probably benign Het
Eps8l2 C A 7: 140,936,534 (GRCm39) Q288K possibly damaging Het
Fam193a T A 5: 34,578,199 (GRCm39) V231D probably damaging Het
Gjd3 C T 11: 102,691,029 (GRCm39) G325S probably benign Het
Gpatch8 T A 11: 102,429,111 (GRCm39) E39D unknown Het
Gpr107 C T 2: 31,042,375 (GRCm39) A2V probably damaging Het
Kansl3 G T 1: 36,385,045 (GRCm39) H629N possibly damaging Het
Kcna10 C A 3: 107,101,545 (GRCm39) H59N probably benign Het
Kitl A T 10: 99,915,886 (GRCm39) E138D possibly damaging Het
Kpna2 T C 11: 106,881,571 (GRCm39) K353R probably damaging Het
M1ap T A 6: 82,958,798 (GRCm39) I143N probably damaging Het
Macf1 A G 4: 123,420,538 (GRCm39) S239P possibly damaging Het
Med13l T A 5: 118,880,105 (GRCm39) S1066T probably damaging Het
Mettl23 G T 11: 116,739,865 (GRCm39) E47* probably null Het
Or52i2 T C 7: 102,319,433 (GRCm39) F102S probably damaging Het
Or5af1 C T 11: 58,722,039 (GRCm39) Q20* probably null Het
Proca1 T A 11: 78,092,699 (GRCm39) D48E possibly damaging Het
Rab34 T G 11: 78,082,458 (GRCm39) V227G probably damaging Het
Rab7 A T 6: 87,990,632 (GRCm39) L14Q probably damaging Het
Rasgef1c C T 11: 49,847,934 (GRCm39) S23F probably benign Het
Rit1 A G 3: 88,633,457 (GRCm39) probably benign Het
Scin T C 12: 40,174,568 (GRCm39) T172A probably benign Het
Scmh1 C A 4: 120,325,575 (GRCm39) N97K probably damaging Het
Skint6 T C 4: 112,846,162 (GRCm39) E655G possibly damaging Het
Slc22a15 A G 3: 101,771,905 (GRCm39) V243A probably benign Het
Smg1 A G 7: 117,789,042 (GRCm39) probably benign Het
Smim7 C T 8: 73,324,867 (GRCm39) G3R probably damaging Het
Snurf C T 7: 59,645,282 (GRCm39) R44H possibly damaging Het
Snx13 G A 12: 35,174,471 (GRCm39) A667T possibly damaging Het
Sowaha T G 11: 53,369,590 (GRCm39) H382P probably damaging Het
Tbc1d2 C T 4: 46,629,912 (GRCm39) G252R probably benign Het
Tmem259 G T 10: 79,814,442 (GRCm39) probably null Het
Topbp1 A G 9: 103,211,277 (GRCm39) T945A probably damaging Het
Tor1aip2 T C 1: 155,939,307 (GRCm39) probably benign Het
Ube3b T C 5: 114,527,136 (GRCm39) V118A probably damaging Het
Usp38 T C 8: 81,711,717 (GRCm39) K773E probably damaging Het
Wnk1 G A 6: 119,925,852 (GRCm39) probably benign Het
Zfp871 A G 17: 32,994,842 (GRCm39) V111A possibly 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
R0332:Cstf3 UTSW 2 104,476,812 (GRCm39) critical splice donor site probably null
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
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'- TCATATAGTCCACGTAATGCCTTC -3'
(R):5'- ACAGTTTCCAGAATCTGCCAGAAC -3'

Sequencing Primer
(F):5'- TTCCAAAGGTCCGGAGTTCAGATC -3'
(R):5'- CTGGGGAACTGGGCAAC -3'
Posted On 2016-10-24