Incidental Mutation 'RF035:Ttf2'
ID 604521
Institutional Source Beutler Lab
Gene Symbol Ttf2
Ensembl Gene ENSMUSG00000033222
Gene Name transcription termination factor, RNA polymerase II
Synonyms 4632434F22Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.962) question?
Stock # RF035 (G1)
Quality Score 214.458
Status Not validated
Chromosome 3
Chromosomal Location 100846176-100876979 bp(-) (GRCm39)
Type of Mutation small insertion (1 aa in frame mutation)
DNA Base Change (assembly) TTCT to TTCTTCT at 100870473 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000076208 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076941]
AlphaFold Q5NC05
Predicted Effect probably benign
Transcript: ENSMUST00000076941
SMART Domains Protein: ENSMUSP00000076208
Gene: ENSMUSG00000033222

DomainStartEndE-ValueType
Pfam:zf-GRF 4 44 2.3e-10 PFAM
low complexity region 328 340 N/A INTRINSIC
low complexity region 425 436 N/A INTRINSIC
low complexity region 458 479 N/A INTRINSIC
DEXDc 542 774 8.6e-35 SMART
Blast:DEXDc 839 892 8e-7 BLAST
low complexity region 893 909 N/A INTRINSIC
low complexity region 917 932 N/A INTRINSIC
HELICc 999 1082 5.61e-16 SMART
low complexity region 1099 1110 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.4%
  • 20x: 98.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the SWI2/SNF2 family of proteins, which play a critical role in altering protein-DNA interactions. The encoded protein has been shown to have dsDNA-dependent ATPase activity and RNA polymerase II termination activity. This protein interacts with cell division cycle 5-like, associates with human splicing complexes, and plays a role in pre-mRNA splicing. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A030005L19Rik T TTTGGCTGCC 1: 82,891,310 (GRCm39) probably benign Het
Acap3 TGCATCCTGGGCTGC TGCATCCTGGGCTGCCGCATCCTGGGCTGC 4: 155,989,548 (GRCm39) probably benign Het
AI837181 G GGCT 19: 5,475,266 (GRCm39) probably benign Het
Amfr GCC GCCGGCGCGAGCTCC 8: 94,738,920 (GRCm39) probably benign Het
Amot GGAGCAGCAA G X: 144,233,984 (GRCm39) probably benign Het
Bltp1 TAT TATTATTATTATTATGAT 3: 37,104,907 (GRCm39) probably benign Het
Cacna1f GAG GAGTAG X: 7,486,293 (GRCm39) probably null Het
Calhm1 CTGTGGCTGTGGCTGTGGCTGTGG CTGTGGCTGTGGTTGTGGCTGTGGCTGTGGCTGTGG 19: 47,129,692 (GRCm39) probably benign Het
Chga G GCAT 12: 102,527,686 (GRCm39) probably benign Het
E4f1 CGC CGCTGC 17: 24,674,164 (GRCm39) probably benign Het
E4f1 CCG CCGGCG 17: 24,674,169 (GRCm39) probably benign Het
Eps8 C CTCAG 6: 137,494,068 (GRCm39) probably null Het
Exd2 GCAGCCACAGCAGCCGCAGCAGCCGCAGCCACAGCCACAGCCACAGCCACAGCCACAGC GCAGCCACAGC 12: 80,522,674 (GRCm39) probably benign Het
Exd2 CAGCCAGAGC CAGC 12: 80,522,729 (GRCm39) probably benign Het
Gm10447 AAAAAAAAAGAAAAA AAAAAA 11: 53,347,165 (GRCm39) probably benign Het
Gm10521 CTCTCTCTCT CTCTCTCTCTCTCT 1: 171,723,860 (GRCm39) probably null Het
Gm8369 TGTG TGTGCGAGTG 19: 11,489,137 (GRCm39) probably benign Het
Gucy1b2 CACACACACACACACACTTAC CAC 14: 62,646,090 (GRCm39) probably benign Het
Ier5l TTGCTGCTGCTGCTGCTG TTGCTGCTGCTGCTG 2: 30,363,832 (GRCm39) probably benign Het
Kmt2b TTCTCCT TTCTCCTTCTCCT 7: 30,285,782 (GRCm39) probably benign Het
Krtap28-10 CAG CAGCCAAAG 1: 83,019,867 (GRCm39) probably benign Het
Krtap28-10 CCACCACAGC CCACCACAGCCACAGTCACCACAGC 1: 83,020,002 (GRCm39) probably benign Het
Lmx1b TCCATCTTGATGCCGTCCAACATCTTGATGCCGTCCA TACATCTTGATGCCGTCCA 2: 33,530,501 (GRCm39) probably null Het
Mamld1 GCAACA GCAACAACA X: 70,162,418 (GRCm39) probably benign Het
Mamld1 AGC AGCGGC X: 70,162,456 (GRCm39) probably benign Het
Mamld1 AGC AGCCGC X: 70,162,444 (GRCm39) probably benign Het
Manbal CGATAGAAT C 2: 157,237,932 (GRCm39) probably null Het
Map1a GCTCCAGCTCCAGCTCCA GCTCCAGCTCCAGCTCCAGCTCCAGCTCCATCTCCAGCTCCAGCTCCA 2: 121,136,782 (GRCm39) probably benign Het
Mcph1 CTCT CTCTTCT 8: 18,702,541 (GRCm39) probably benign Het
Nefh CCTCACCTGGGGACTTGG CCTCACCTGGGGACTTGGGCTCACCTGGGGACTTGG 11: 4,891,039 (GRCm39) probably benign Het
Nusap1 GATACACGTTAGCAGTGAGGAGCAAGCTGA GATACACGTTAGCAGTGAGGAGCAAGCTGATATACACGTTAGCAGTGAGGAGCAAGCTGA 2: 119,458,060 (GRCm39) probably benign Het
Or2t49 TGGAGGTGGATTGG TG 11: 58,393,208 (GRCm39) probably benign Het
P4ha2 CCAGGTG C 11: 54,001,061 (GRCm39) probably benign Het
Pdik1l CCACCA CCACCAACACCA 4: 134,006,821 (GRCm39) probably benign Het
Polr1has CACCAC CACCACCCCCACCACCACCACAACCAC 17: 37,275,958 (GRCm39) probably benign Het
Rassf6 GCCTCACTCATGGTCCTGTAGAGCAATGGGGATTC GCCTCACTCATGGTCCTGTAGAGCAATGGGGATTCTTCCTCACTCATGGTCCTGTAGAGCAATGGGGATTC 5: 90,756,767 (GRCm39) probably benign Het
Rfx4 TCTCTCTCTCTCTCT TCTCTCTCTCTCTCTCGCTCTCTCTCTCTCT 10: 84,694,344 (GRCm39) probably benign Het
Rgs22 GCTAAAAAAAAAAAAAAAAA G 15: 36,010,981 (GRCm39) probably benign Het
Rpgrip1 AGG AGGGGG 14: 52,386,850 (GRCm39) probably benign Het
Slc39a4 TGTGGTC TGTGGTCATCATGATCACCATGGTCACCATGAGCACGGTGGTC 15: 76,499,066 (GRCm39) probably benign Het
Srpk2 ATCCT AT 5: 23,730,573 (GRCm39) probably benign Het
Strn AGTC AGTCCGTGCTCCCTTACCCCAGTCCGTGCTCCCTTACCCCTGTC 17: 78,984,714 (GRCm39) probably null Het
Tcof1 AAGAT AAGATTGGCCCTTTCCCAGAGATGCCCTTGGCTGCTGAGAT 18: 60,966,625 (GRCm39) probably benign Het
Tfeb AGC AGCCGC 17: 48,097,036 (GRCm39) probably benign Het
Tmem59 T TGTTTGTTG 4: 107,047,729 (GRCm39) probably benign Het
Trav6d-5 ATTTTT ATTTTTTTTTT 14: 53,032,791 (GRCm39) probably benign Het
Triobp CAGGACTCCCTGTGCCCAACGG CAGGACTCCCTGTGCCCAACGGAACAACCCAAGGACTCCCTGTGCCCAACGG 15: 78,851,239 (GRCm39) probably benign Het
Tsen2 GGA GGATGA 6: 115,537,028 (GRCm39) probably benign Het
Vat1l C T 8: 115,016,069 (GRCm39) L320F probably damaging Het
Xirp2 TT TTTAT 2: 67,355,888 (GRCm39) probably benign Het
Yipf3 AGAGGA AGA 17: 46,559,898 (GRCm39) probably benign Het
Zfp933 TT TTTGCGT 4: 147,910,188 (GRCm39) probably null Het
Other mutations in Ttf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01118:Ttf2 APN 3 100,874,413 (GRCm39) splice site probably benign
IGL01578:Ttf2 APN 3 100,863,511 (GRCm39) missense possibly damaging 0.59
IGL02218:Ttf2 APN 3 100,871,409 (GRCm39) missense possibly damaging 0.61
IGL03267:Ttf2 APN 3 100,852,120 (GRCm39) nonsense probably null
FR4548:Ttf2 UTSW 3 100,870,476 (GRCm39) small insertion probably benign
FR4737:Ttf2 UTSW 3 100,870,476 (GRCm39) small insertion probably benign
R0784:Ttf2 UTSW 3 100,870,026 (GRCm39) missense probably benign 0.01
R0894:Ttf2 UTSW 3 100,876,865 (GRCm39) splice site probably benign
R2083:Ttf2 UTSW 3 100,876,817 (GRCm39) missense probably benign 0.18
R2125:Ttf2 UTSW 3 100,855,509 (GRCm39) missense possibly damaging 0.93
R2126:Ttf2 UTSW 3 100,855,509 (GRCm39) missense possibly damaging 0.93
R2230:Ttf2 UTSW 3 100,865,260 (GRCm39) missense probably damaging 0.99
R3084:Ttf2 UTSW 3 100,855,580 (GRCm39) missense possibly damaging 0.56
R3700:Ttf2 UTSW 3 100,858,324 (GRCm39) missense probably damaging 1.00
R3963:Ttf2 UTSW 3 100,849,136 (GRCm39) unclassified probably benign
R4002:Ttf2 UTSW 3 100,855,541 (GRCm39) nonsense probably null
R4290:Ttf2 UTSW 3 100,870,077 (GRCm39) missense probably benign 0.01
R4833:Ttf2 UTSW 3 100,868,722 (GRCm39) missense probably benign 0.00
R4909:Ttf2 UTSW 3 100,861,631 (GRCm39) missense probably damaging 1.00
R5011:Ttf2 UTSW 3 100,870,485 (GRCm39) missense probably benign 0.14
R5523:Ttf2 UTSW 3 100,866,558 (GRCm39) missense probably damaging 1.00
R5669:Ttf2 UTSW 3 100,858,433 (GRCm39) nonsense probably null
R6531:Ttf2 UTSW 3 100,863,576 (GRCm39) missense probably damaging 0.99
R6776:Ttf2 UTSW 3 100,859,869 (GRCm39) missense probably benign 0.01
R6795:Ttf2 UTSW 3 100,866,578 (GRCm39) missense probably damaging 1.00
R6861:Ttf2 UTSW 3 100,876,941 (GRCm39) missense possibly damaging 0.89
R6940:Ttf2 UTSW 3 100,876,831 (GRCm39) missense probably damaging 1.00
R6958:Ttf2 UTSW 3 100,853,248 (GRCm39) missense probably benign 0.30
R6962:Ttf2 UTSW 3 100,858,453 (GRCm39) missense probably damaging 1.00
R7211:Ttf2 UTSW 3 100,866,623 (GRCm39) missense probably benign 0.00
R7365:Ttf2 UTSW 3 100,870,618 (GRCm39) missense possibly damaging 0.92
R7470:Ttf2 UTSW 3 100,870,478 (GRCm39) missense possibly damaging 0.85
R7534:Ttf2 UTSW 3 100,857,728 (GRCm39) splice site probably null
R8023:Ttf2 UTSW 3 100,863,571 (GRCm39) missense probably benign 0.01
R8087:Ttf2 UTSW 3 100,871,412 (GRCm39) missense probably damaging 0.96
R8219:Ttf2 UTSW 3 100,869,879 (GRCm39) missense possibly damaging 0.94
R8757:Ttf2 UTSW 3 100,857,648 (GRCm39) missense probably damaging 1.00
R8872:Ttf2 UTSW 3 100,870,644 (GRCm39) missense probably benign 0.04
R8888:Ttf2 UTSW 3 100,870,028 (GRCm39) missense probably benign 0.00
R8895:Ttf2 UTSW 3 100,870,028 (GRCm39) missense probably benign 0.00
R8900:Ttf2 UTSW 3 100,859,956 (GRCm39) missense probably damaging 1.00
R8942:Ttf2 UTSW 3 100,869,042 (GRCm39) missense probably benign 0.00
R9204:Ttf2 UTSW 3 100,869,880 (GRCm39) missense probably benign 0.12
R9451:Ttf2 UTSW 3 100,852,089 (GRCm39) missense probably damaging 1.00
R9622:Ttf2 UTSW 3 100,859,918 (GRCm39) missense probably benign 0.07
R9704:Ttf2 UTSW 3 100,859,920 (GRCm39) missense probably damaging 1.00
RF027:Ttf2 UTSW 3 100,870,473 (GRCm39) small insertion probably benign
Z1177:Ttf2 UTSW 3 100,866,582 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CACTTGGCACCAAAAGCTG -3'
(R):5'- AGCCGAGAAACCCATTTAGG -3'

Sequencing Primer
(F):5'- AAAAGCTGGGTTTCCTTTTCTCTCAG -3'
(R):5'- CTCGAACGAAAACAGTTTGTCG -3'
Posted On 2019-12-04