Incidental Mutation 'R7470:Ttf2'
ID 579095
Institutional Source Beutler Lab
Gene Symbol Ttf2
Ensembl Gene ENSMUSG00000033222
Gene Name transcription termination factor, RNA polymerase II
Synonyms 4632434F22Rik
MMRRC Submission 045544-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.962) question?
Stock # R7470 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 100846176-100876979 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 100870478 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Histidine at position 198 (Q198H)
Ref Sequence ENSEMBL: ENSMUSP00000076208 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076941]
AlphaFold Q5NC05
Predicted Effect possibly damaging
Transcript: ENSMUST00000076941
AA Change: Q198H

PolyPhen 2 Score 0.854 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000076208
Gene: ENSMUSG00000033222
AA Change: Q198H

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563M21Rik A T 9: 55,898,622 (GRCm39) V238E possibly damaging Het
Actn3 G A 19: 4,917,842 (GRCm39) S375L possibly damaging Het
Adgrg6 T C 10: 14,319,810 (GRCm39) T476A probably benign Het
Afm T A 5: 90,679,486 (GRCm39) S327T probably damaging Het
Apol7e T A 15: 77,602,143 (GRCm39) M247K probably benign Het
Aqp12 T A 1: 92,936,385 (GRCm39) L237Q probably damaging Het
Arhgef12 A T 9: 42,951,848 (GRCm39) S63T probably damaging Het
Axdnd1 T A 1: 156,204,086 (GRCm39) E393V Het
Cacna1g T A 11: 94,352,765 (GRCm39) D365V possibly damaging Het
Ccdc3 T A 2: 5,143,115 (GRCm39) V124E possibly damaging Het
Ccr7 C T 11: 99,036,383 (GRCm39) V180M possibly damaging Het
Cd47 T A 16: 49,704,585 (GRCm39) I119K Het
Cenpe A T 3: 134,947,916 (GRCm39) L1158F probably damaging Het
Cfi A G 3: 129,648,736 (GRCm39) R207G probably benign Het
Cyp2j6 T C 4: 96,423,708 (GRCm39) Y220C probably benign Het
Ddhd2 A G 8: 26,225,087 (GRCm39) F577L probably benign Het
Dhx40 T C 11: 86,667,528 (GRCm39) E537G probably damaging Het
Disp3 A T 4: 148,345,527 (GRCm39) C438S possibly damaging Het
Dock3 A G 9: 106,882,644 (GRCm39) S380P probably damaging Het
Ehmt2 A G 17: 35,118,372 (GRCm39) E106G possibly damaging Het
Fmnl2 A T 2: 52,932,377 (GRCm39) I119F probably damaging Het
Gm11554 A C 11: 99,695,190 (GRCm39) S8A unknown Het
Grm7 A G 6: 111,478,476 (GRCm39) I54V Het
Hbs1l T C 10: 21,234,683 (GRCm39) F579L possibly damaging Het
Hgf C A 5: 16,823,854 (GRCm39) Q684K probably benign Het
Igsf3 T C 3: 101,358,391 (GRCm39) Y741H possibly damaging Het
Il17rb C A 14: 29,719,990 (GRCm39) G304W probably damaging Het
Ino80c C T 18: 24,241,895 (GRCm39) W163* probably null Het
Kcnt1 A C 2: 25,799,845 (GRCm39) D997A probably damaging Het
Klf7 C T 1: 64,081,472 (GRCm39) probably null Het
Lingo1 T C 9: 56,527,908 (GRCm39) Y233C probably damaging Het
Lmo7 C A 14: 102,138,040 (GRCm39) T914K possibly damaging Het
Mark1 G T 1: 184,660,241 (GRCm39) Y138* probably null Het
Mcm3ap C A 10: 76,344,231 (GRCm39) T1791K probably damaging Het
Mcts2 T C 2: 152,529,582 (GRCm39) I131T probably benign Het
Mipep A G 14: 61,040,344 (GRCm39) D288G probably benign Het
Ms4a8a T A 19: 11,053,714 (GRCm39) N131Y possibly damaging Het
Nalcn T C 14: 123,809,456 (GRCm39) E232G probably benign Het
Nat10 C T 2: 103,565,226 (GRCm39) A452T probably benign Het
Nfatc2 G A 2: 168,365,227 (GRCm39) Q596* probably null Het
Nudt13 G T 14: 20,359,791 (GRCm39) G173W probably damaging Het
Or10n1 C A 9: 39,524,998 (GRCm39) T45K probably benign Het
Or1e16 T A 11: 73,286,714 (GRCm39) I45F probably damaging Het
Or5l14 A T 2: 87,792,793 (GRCm39) C148S possibly damaging Het
Or8b4 T A 9: 37,830,592 (GRCm39) I213N probably damaging Het
Otud4 T C 8: 80,399,989 (GRCm39) V901A probably benign Het
Pah G A 10: 87,399,286 (GRCm39) R155Q probably damaging Het
Pkd1l3 A G 8: 110,365,008 (GRCm39) H1130R probably benign Het
Pnliprp1 A G 19: 58,720,457 (GRCm39) N111S possibly damaging Het
Ppp1r21 T C 17: 88,869,649 (GRCm39) Y401H probably damaging Het
Prr14 A G 7: 127,074,997 (GRCm39) K466R probably null Het
Ralgapa2 A G 2: 146,266,587 (GRCm39) L663P probably damaging Het
Reg3d A T 6: 78,353,071 (GRCm39) C171S possibly damaging Het
Reln G T 5: 22,147,739 (GRCm39) L2404I probably damaging Het
Rnasel A C 1: 153,629,777 (GRCm39) I98L probably benign Het
Rnf216 T C 5: 142,978,480 (GRCm39) D886G possibly damaging Het
Rp1l1 A G 14: 64,266,015 (GRCm39) R534G probably benign Het
Selenon A C 4: 134,267,061 (GRCm39) S514A probably benign Het
Sema3d T A 5: 12,558,152 (GRCm39) I228N probably damaging Het
Serpinb9g T A 13: 33,670,617 (GRCm39) I35N probably damaging Het
Siglec1 A C 2: 130,917,744 (GRCm39) H1044Q probably benign Het
Skint5 T A 4: 113,614,128 (GRCm39) I693F unknown Het
Skint5 G T 4: 113,743,000 (GRCm39) L370M unknown Het
Slc12a1 G A 2: 125,059,815 (GRCm39) W905* probably null Het
Slc26a9 G C 1: 131,691,781 (GRCm39) V675L probably benign Het
Slc5a7 A T 17: 54,583,990 (GRCm39) Y433* probably null Het
Slc7a4 A G 16: 17,392,977 (GRCm39) I274T probably benign Het
Slmap A G 14: 26,148,575 (GRCm39) V612A probably benign Het
Spen T C 4: 141,206,605 (GRCm39) D674G unknown Het
Ssh1 T C 5: 114,080,488 (GRCm39) T981A possibly damaging Het
Sycp2l T C 13: 41,316,580 (GRCm39) S180P probably benign Het
Tdrd7 C A 4: 45,990,144 (GRCm39) S181R probably benign Het
Thada T C 17: 84,533,469 (GRCm39) N1661D probably benign Het
Tsga13 C A 6: 30,876,981 (GRCm39) D179Y possibly damaging Het
Ugt2b37 T G 5: 87,401,971 (GRCm39) Y220S probably benign Het
Unc79 C T 12: 103,061,235 (GRCm39) T1145I probably damaging Het
Unc80 T A 1: 66,661,621 (GRCm39) M1682K probably benign Het
Vcp A G 4: 42,982,891 (GRCm39) S652P probably damaging Het
Vmn2r-ps158 T A 7: 42,697,310 (GRCm39) M789K probably damaging Het
Wrnip1 T A 13: 33,000,310 (GRCm39) L439* probably null Het
Zfhx2 A G 14: 55,304,207 (GRCm39) I1259T possibly damaging Het
Zfp369 A T 13: 65,439,960 (GRCm39) T215S probably benign Het
Zfp64 A T 2: 168,767,731 (GRCm39) V627E probably damaging Het
Zfp873 T C 10: 81,895,773 (GRCm39) I168T probably benign 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
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
RF035: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'- CCAAAAGCTGGGTTTCCTTTTC -3'
(R):5'- AGCCGAGAAACCCATTTAGG -3'

Sequencing Primer
(F):5'- AAAAGCTGGGTTTCCTTTTCTCTCAG -3'
(R):5'- CTCGAACGAAAACAGTTTGTCG -3'
Posted On 2019-10-07