Incidental Mutation 'R7365:Ttf2'
ID 571687
Institutional Source Beutler Lab
Gene Symbol Ttf2
Ensembl Gene ENSMUSG00000033222
Gene Name transcription termination factor, RNA polymerase II
Synonyms 4632434F22Rik
MMRRC Submission 045449-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.962) question?
Stock # R7365 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 100846176-100876979 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 100870618 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Tyrosine at position 152 (D152Y)
Ref Sequence ENSEMBL: ENSMUSP00000076208 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076941]
AlphaFold Q5NC05
Predicted Effect possibly damaging
Transcript: ENSMUST00000076941
AA Change: D152Y

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000076208
Gene: ENSMUSG00000033222
AA Change: D152Y

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: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (96/96)
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: 96 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123K08Rik T C 5: 138,561,198 (GRCm39) S155G probably benign Het
Abcc4 T C 14: 118,865,066 (GRCm39) N320S probably damaging Het
Akr1c19 G A 13: 4,287,069 (GRCm39) R96H probably benign Het
Ankrd17 T C 5: 90,439,010 (GRCm39) D451G possibly damaging Het
Ano8 T A 8: 71,937,754 (GRCm39) D36V probably damaging Het
Aqp3 A G 4: 41,098,003 (GRCm39) V36A probably benign Het
Atf7ip A G 6: 136,537,708 (GRCm39) T314A probably benign Het
Atp2c1 A T 9: 105,300,198 (GRCm39) D700E probably damaging Het
Axin2 G A 11: 108,830,202 (GRCm39) V341M possibly damaging Het
Bin3 A G 14: 70,371,976 (GRCm39) Q139R probably damaging Het
Brca2 A G 5: 150,455,802 (GRCm39) D181G probably damaging Het
Capn3 A G 2: 120,325,295 (GRCm39) E466G probably damaging Het
Ccdc14 T A 16: 34,543,989 (GRCm39) Y830* probably null Het
Cdk12 T C 11: 98,111,910 (GRCm39) F723L unknown Het
Cep89 G A 7: 35,129,353 (GRCm39) R630H probably damaging Het
Cip2a T A 16: 48,822,016 (GRCm39) S215T probably benign Het
Clca3a2 T A 3: 144,804,545 (GRCm39) I61F probably damaging Het
Clca4b T C 3: 144,628,529 (GRCm39) T393A not run Het
Cldn5 G A 16: 18,595,845 (GRCm39) A34T probably damaging Het
Cobll1 A T 2: 64,928,717 (GRCm39) S870T probably damaging Het
Col12a1 T C 9: 79,613,642 (GRCm39) K68E probably damaging Het
Crnn A T 3: 93,055,841 (GRCm39) Q209L probably damaging Het
Cwf19l1 A T 19: 44,120,579 (GRCm39) F45I probably damaging Het
Cyfip2 T A 11: 46,098,267 (GRCm39) K1052* probably null Het
D930020B18Rik G A 10: 121,503,716 (GRCm39) probably null Het
Dcc G A 18: 71,959,194 (GRCm39) P193S probably damaging Het
Dda1 T A 8: 71,927,137 (GRCm39) C48S probably benign Het
Disc1 A G 8: 125,881,780 (GRCm39) R572G probably damaging Het
Dnah7a A T 1: 53,536,297 (GRCm39) M2582K probably benign Het
Dsel C T 1: 111,789,303 (GRCm39) G411S probably damaging Het
Dynlrb2 T C 8: 117,241,696 (GRCm39) V80A probably benign Het
Eif3a A T 19: 60,755,082 (GRCm39) D1033E unknown Het
Enam C A 5: 88,649,347 (GRCm39) H285Q possibly damaging Het
Ep400 T C 5: 110,867,480 (GRCm39) D980G unknown Het
Epha7 C T 4: 28,871,937 (GRCm39) S422L probably benign Het
Erc2 A C 14: 27,762,346 (GRCm39) D703A probably damaging Het
Ezh2 G T 6: 47,510,692 (GRCm39) S639* probably null Het
Fbn1 G A 2: 125,193,969 (GRCm39) H1333Y probably damaging Het
Flad1 A G 3: 89,315,972 (GRCm39) S197P possibly damaging Het
Foxl3 A G 5: 138,806,736 (GRCm39) H82R probably damaging Het
Gfm2 G T 13: 97,279,529 (GRCm39) C26F probably benign Het
Golga2 C T 2: 32,193,013 (GRCm39) Q444* probably null Het
Gp5 A T 16: 30,127,426 (GRCm39) V416D probably damaging Het
Gpat2 A G 2: 127,268,901 (GRCm39) probably null Het
Gpr137c A G 14: 45,516,471 (GRCm39) D353G probably damaging Het
Hoxa13 A C 6: 52,236,862 (GRCm39) W133G probably damaging Het
Hydin A T 8: 111,327,905 (GRCm39) K4804M probably damaging Het
Hydin A T 8: 111,284,294 (GRCm39) I3189F probably damaging Het
Ice2 T C 9: 69,307,794 (GRCm39) F26S probably damaging Het
Ints11 T C 4: 155,956,687 (GRCm39) probably null Het
Ipo5 A G 14: 121,157,497 (GRCm39) I112V probably benign Het
Itgax T A 7: 127,734,481 (GRCm39) S346R probably damaging Het
Kcnj13 T A 1: 87,316,739 (GRCm39) M125L probably damaging Het
Lmbrd1 T A 1: 24,783,948 (GRCm39) V359E possibly damaging Het
Lrrc7 T G 3: 157,903,798 (GRCm39) K287N probably damaging Het
Mau2 C T 8: 70,481,884 (GRCm39) A191T possibly damaging Het
Mkx C A 18: 7,000,747 (GRCm39) R65L possibly damaging Het
Mroh4 T A 15: 74,482,220 (GRCm39) K746* probably null Het
Myh4 A G 11: 67,133,674 (GRCm39) T238A probably damaging Het
Nlrp9c T A 7: 26,070,822 (GRCm39) N920Y possibly damaging Het
Nr4a3 T G 4: 48,051,290 (GRCm39) S15A possibly damaging Het
Ntn4 T C 10: 93,480,666 (GRCm39) L130P probably damaging Het
Or2ag13 A G 7: 106,313,171 (GRCm39) V239A probably benign Het
Or4a68 A G 2: 89,270,542 (GRCm39) V27A probably benign Het
Or4f59 A T 2: 111,873,359 (GRCm39) V6E possibly damaging Het
Or56a42-ps1 T A 7: 104,777,552 (GRCm39) I21F probably benign Het
Or8d23 A T 9: 38,842,072 (GRCm39) I202F probably damaging Het
Otog T C 7: 45,947,732 (GRCm39) L110P probably damaging Het
Platr25 G A 13: 62,848,719 (GRCm39) H48Y probably benign Het
Plcxd2 T C 16: 45,800,789 (GRCm39) E145G probably damaging Het
Pltp A T 2: 164,696,242 (GRCm39) N143K probably damaging Het
Pnpt1 T C 11: 29,111,334 (GRCm39) Y735H probably damaging Het
Prom1 A G 5: 44,178,173 (GRCm39) Y520H probably damaging Het
Rag2 A G 2: 101,461,118 (GRCm39) Y476C probably damaging Het
Rdh16f2 A G 10: 127,712,893 (GRCm39) Y297C probably damaging Het
Ryr1 T C 7: 28,785,180 (GRCm39) E1844G probably benign Het
Ryr2 A G 13: 11,655,161 (GRCm39) C3679R probably damaging Het
Sirt1 A G 10: 63,157,782 (GRCm39) I544T probably benign Het
Slc26a10 A T 10: 127,012,716 (GRCm39) I382N possibly damaging Het
Sox2 C A 3: 34,705,121 (GRCm39) P186Q possibly damaging Het
Spata31e5 A T 1: 28,819,233 (GRCm39) M16K probably benign Het
Tnpo3 A G 6: 29,556,995 (GRCm39) L752P probably damaging Het
Top2b T A 14: 16,416,649 (GRCm38) N1136K probably benign Het
Tpsg1 G T 17: 25,592,184 (GRCm39) G86V probably damaging Het
Txndc15 T C 13: 55,862,601 (GRCm39) L4P unknown Het
Unc5a T C 13: 55,144,386 (GRCm39) V237A possibly damaging Het
Urb1 CACTTAC CAC 16: 90,569,461 (GRCm39) probably benign Het
Vav3 C A 3: 109,535,415 (GRCm39) P616T possibly damaging Het
Vmn2r15 T A 5: 109,441,105 (GRCm39) D251V probably benign Het
Vmn2r15 A G 5: 109,445,388 (GRCm39) L12S probably benign Het
Wfs1 A C 5: 37,125,076 (GRCm39) I605S probably benign Het
Wif1 G A 10: 120,919,814 (GRCm39) R187Q possibly damaging Het
Yipf1 A G 4: 107,207,738 (GRCm39) probably null Het
Zdhhc20 G T 14: 58,111,377 (GRCm39) F74L possibly damaging Het
Zfp507 T C 7: 35,475,843 (GRCm39) T303A unknown Het
Zfp763 A T 17: 33,252,352 (GRCm39) 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
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
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'- TCCATGGCCTTGCTTGGAAG -3'
(R):5'- GACATTTTAGATACAAGGCAGCC -3'

Sequencing Primer
(F):5'- GAAGCCATTCCTTCAGCTTTCTTAG -3'
(R):5'- GAGTCACAGCTTCACTCT -3'
Posted On 2019-09-13