Incidental Mutation 'R4909:Ttf2'
ID 379265
Institutional Source Beutler Lab
Gene Symbol Ttf2
Ensembl Gene ENSMUSG00000033222
Gene Name transcription termination factor, RNA polymerase II
Synonyms 4632434F22Rik
MMRRC Submission 042511-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.962) question?
Stock # R4909 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 100846176-100876979 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 100861631 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 620 (T620A)
Ref Sequence ENSEMBL: ENSMUSP00000076208 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076941]
AlphaFold Q5NC05
Predicted Effect probably damaging
Transcript: ENSMUST00000076941
AA Change: T620A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000076208
Gene: ENSMUSG00000033222
AA Change: T620A

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122449
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127357
Predicted Effect probably benign
Transcript: ENSMUST00000151697
SMART Domains Protein: ENSMUSP00000119032
Gene: ENSMUSG00000033222

DomainStartEndE-ValueType
Blast:DEXDc 21 82 1e-20 BLAST
low complexity region 105 121 N/A INTRINSIC
low complexity region 153 168 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200506
Meta Mutation Damage Score 0.7214 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 91.7%
Validation Efficiency 97% (101/104)
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: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030C10Rik A T 12: 20,865,089 (GRCm39) noncoding transcript Het
Aars1 G A 8: 111,781,715 (GRCm39) G929D probably damaging Het
Ablim2 C T 5: 35,959,766 (GRCm39) R73C possibly damaging Het
Actn4 A T 7: 28,598,082 (GRCm39) L506Q probably damaging Het
Adam26a A T 8: 44,023,475 (GRCm39) F5Y probably benign Het
Adamts5 G A 16: 85,696,954 (GRCm39) Q68* probably null Het
Adcy9 A G 16: 4,116,618 (GRCm39) I871T probably benign Het
Ak5 A T 3: 152,361,514 (GRCm39) L136H probably damaging Het
Ap1g2 A G 14: 55,342,483 (GRCm39) probably null Het
Ap2a1 G A 7: 44,555,805 (GRCm39) T355M probably damaging Het
Ap3s2 T C 7: 79,564,989 (GRCm39) D60G possibly damaging Het
Apold1 G A 6: 134,960,558 (GRCm39) R4Q probably benign Het
Atp13a5 G T 16: 29,152,846 (GRCm39) Q207K possibly damaging Het
BC035947 A C 1: 78,474,666 (GRCm39) I622S probably damaging Het
Bmper G T 9: 23,289,021 (GRCm39) V339F probably benign Het
Btbd8 C T 5: 107,655,176 (GRCm39) Q992* probably null Het
C1ra A G 6: 124,499,293 (GRCm39) D493G probably damaging Het
C3 C T 17: 57,533,830 (GRCm39) probably null Het
Cabp4 T A 19: 4,187,120 (GRCm39) I209F possibly damaging Het
Cacna1s A T 1: 136,007,342 (GRCm39) H453L probably damaging Het
Camk2g A G 14: 20,842,652 (GRCm39) V32A probably benign Het
Ccdc175 G A 12: 72,206,527 (GRCm39) R240C probably damaging Het
Cdk13 C T 13: 17,946,988 (GRCm39) S590N possibly damaging Het
Cfap45 A T 1: 172,357,443 (GRCm39) T24S probably benign Het
Clca3a1 T G 3: 144,730,324 (GRCm39) K174Q probably damaging Het
Col1a2 G A 6: 4,529,058 (GRCm39) probably benign Het
Colgalt1 A T 8: 72,073,277 (GRCm39) I323F possibly damaging Het
Cpeb3 A T 19: 37,152,059 (GRCm39) S106T probably damaging Het
Cpeb3 T C 19: 37,151,633 (GRCm39) S248G possibly damaging Het
Ctcfl C T 2: 172,937,191 (GRCm39) A576T probably benign Het
Cyp4f16 T G 17: 32,769,295 (GRCm39) V395G possibly damaging Het
Dchs1 C T 7: 105,415,462 (GRCm39) G605S probably damaging Het
Egflam A T 15: 7,249,110 (GRCm39) F903I probably damaging Het
Eif5a G A 11: 69,808,311 (GRCm39) A62V possibly damaging Het
Fam217a A G 13: 35,094,389 (GRCm39) S609P probably damaging Het
Fhad1 T A 4: 141,712,822 (GRCm39) I206F probably benign Het
Flt1 C A 5: 147,620,749 (GRCm39) A132S probably benign Het
Fras1 T A 5: 96,856,617 (GRCm39) M2000K probably benign Het
Frmd5 C T 2: 121,422,134 (GRCm39) probably null Het
Gle1 T C 2: 29,826,092 (GRCm39) L57P probably benign Het
Glrx3 C A 7: 137,046,765 (GRCm39) N52K probably damaging Het
Grin3b A G 10: 79,812,938 (GRCm39) *1004W probably null Het
Hectd4 T A 5: 121,401,954 (GRCm39) F347L probably benign Het
Htra1 G A 7: 130,586,802 (GRCm39) V462I probably benign Het
Itga11 A G 9: 62,662,581 (GRCm39) Y518C probably damaging Het
Krtap15-1 T C 16: 88,626,253 (GRCm39) F88L probably benign Het
Ktn1 A T 14: 47,943,917 (GRCm39) R866W probably damaging Het
Lamb1 G A 12: 31,338,280 (GRCm39) R483H probably damaging Het
Megf6 C T 4: 154,349,848 (GRCm39) R983C probably damaging Het
Mybpc3 T A 2: 90,965,157 (GRCm39) D1075E probably benign Het
Myo7b A T 18: 32,097,489 (GRCm39) N1792K probably benign Het
Nabp2 A T 10: 128,237,556 (GRCm39) probably benign Het
Neil3 A G 8: 54,091,928 (GRCm39) C7R probably damaging Het
Nxpe2 T A 9: 48,230,897 (GRCm39) I491F possibly damaging Het
Obscn A G 11: 58,952,291 (GRCm39) V4292A possibly damaging Het
Ogfod3 A G 11: 121,088,318 (GRCm39) S139P probably damaging Het
Oog2 T C 4: 143,921,669 (GRCm39) I211T possibly damaging Het
Oosp1 T C 19: 11,666,080 (GRCm39) D70G probably benign Het
Or10j2 A T 1: 173,098,546 (GRCm39) D268V probably damaging Het
Or1ab2 A G 8: 72,863,425 (GRCm39) N5S probably damaging Het
Or56a42-ps1 C A 7: 104,777,435 (GRCm39) V70L probably benign Het
Or6c210 A G 10: 129,496,589 (GRCm39) I305V probably benign Het
Padi3 T C 4: 140,522,937 (GRCm39) D345G probably damaging Het
Pcyt2 A G 11: 120,506,246 (GRCm39) F71L probably benign Het
Pi4k2b T C 5: 52,911,971 (GRCm39) probably benign Het
Pigr A C 1: 130,776,195 (GRCm39) T577P possibly damaging Het
Pirb G A 7: 3,722,361 (GRCm39) Q161* probably null Het
Pnlip A G 19: 58,664,672 (GRCm39) E204G possibly damaging Het
Pop7 G T 5: 137,500,161 (GRCm39) D57E probably benign Het
Ppfia4 A T 1: 134,260,239 (GRCm39) I8N probably damaging Het
Pprc1 A G 19: 46,052,758 (GRCm39) T759A probably damaging Het
Prom1 T C 5: 44,202,894 (GRCm39) N213S probably benign Het
Prop1 GCTTCACT GCTTCACTTCACT 11: 50,842,863 (GRCm39) probably null Het
Prop1 A T 11: 50,842,872 (GRCm39) L105H probably damaging Het
Pwp2 A T 10: 78,018,328 (GRCm39) M121K possibly damaging Het
Rap1gds1 A T 3: 138,689,509 (GRCm39) M161K possibly damaging Het
Rps6kb2 T A 19: 4,207,002 (GRCm39) probably benign Het
Rxfp1 A G 3: 79,552,109 (GRCm39) S731P probably benign Het
Scfd1 T C 12: 51,437,195 (GRCm39) V137A probably benign Het
Slc6a15 G A 10: 103,240,275 (GRCm39) D333N probably damaging Het
Sqor T C 2: 122,627,101 (GRCm39) V74A possibly damaging Het
Stil T A 4: 114,881,422 (GRCm39) Y655* probably null Het
Syt14 A T 1: 192,581,167 (GRCm39) I468K probably damaging Het
Tbc1d31 T C 15: 57,825,661 (GRCm39) probably null Het
Tspyl5 A T 15: 33,686,995 (GRCm39) S317T probably damaging Het
Ttf1 C T 2: 28,954,668 (GRCm39) H11Y possibly damaging Het
Usp32 G A 11: 84,946,598 (GRCm39) Q269* probably null Het
Vsig10 T A 5: 117,476,308 (GRCm39) V254E probably benign Het
Wdr6 C T 9: 108,450,187 (GRCm39) A1114T probably benign Het
Zfp280d A G 9: 72,238,714 (GRCm39) S63G probably damaging Het
Zfp607b A G 7: 27,403,221 (GRCm39) D559G probably benign Het
Zfp934 T C 13: 62,665,768 (GRCm39) H291R probably damaging 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
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
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'- TGTGTGAGTTGCAGACACG -3'
(R):5'- TTTAGACTGGGTCACACACTG -3'

Sequencing Primer
(F):5'- TGTGAGTTGCAGACACGTCCAG -3'
(R):5'- TGGGTCACACACTGCCCAC -3'
Posted On 2016-04-15