Incidental Mutation 'R4002:Ttf2'
ID 311305
Institutional Source Beutler Lab
Gene Symbol Ttf2
Ensembl Gene ENSMUSG00000033222
Gene Name transcription termination factor, RNA polymerase II
Synonyms 4632434F22Rik
MMRRC Submission 041609-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.962) question?
Stock # R4002 (G1)
Quality Score 89
Status Validated
Chromosome 3
Chromosomal Location 100846176-100876979 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 100855541 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 96 (Q96*)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076941]
AlphaFold Q5NC05
Predicted Effect probably null
Transcript: ENSMUST00000076941
AA Change: Q885*
SMART Domains Protein: ENSMUSP00000076208
Gene: ENSMUSG00000033222
AA Change: Q885*

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: ENSMUST00000127357
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145811
Predicted Effect probably null
Transcript: ENSMUST00000151697
AA Change: Q96*
SMART Domains Protein: ENSMUSP00000119032
Gene: ENSMUSG00000033222
AA Change: Q96*

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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.4%
Validation Efficiency 97% (29/30)
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik T A 7: 41,274,964 (GRCm39) N222K possibly damaging Het
Abca13 A T 11: 9,535,415 (GRCm39) M4680L probably benign Het
Adgrv1 GA GAA 13: 81,688,251 (GRCm39) probably null Het
Afdn T C 17: 14,104,179 (GRCm39) S1157P probably damaging Het
Ank1 A G 8: 23,629,479 (GRCm39) T63A probably damaging Het
Asah1 A G 8: 41,801,176 (GRCm39) probably benign Het
Cdh18 T A 15: 23,383,048 (GRCm39) L277I possibly damaging Het
Ces3a A T 8: 105,784,093 (GRCm39) D431V probably damaging Het
Dbx1 T C 7: 49,286,265 (GRCm39) S67G probably benign Het
Dmxl2 A G 9: 54,381,116 (GRCm39) probably benign Het
Dnah7a T A 1: 53,670,840 (GRCm39) T471S probably benign Het
Efcab8 A T 2: 153,623,726 (GRCm39) K70N probably benign Het
Grcc10 A T 6: 124,717,933 (GRCm39) M1K probably null Het
Higd2a G C 13: 54,738,540 (GRCm39) C53S probably damaging Het
Kcna4 C T 2: 107,126,259 (GRCm39) P331L probably damaging Het
Keg1 T A 19: 12,696,307 (GRCm39) S164T possibly damaging Het
Ltbp1 T C 17: 75,617,154 (GRCm39) V1031A probably benign Het
Obsl1 G A 1: 75,476,743 (GRCm39) T737I possibly damaging Het
Or10al7 G A 17: 38,365,879 (GRCm39) L193F probably damaging Het
Or7g33 C T 9: 19,449,202 (GRCm39) R8K probably benign Het
Or7g35 T G 9: 19,496,010 (GRCm39) M59R probably damaging Het
Serpinb6d A G 13: 33,854,630 (GRCm39) M202V probably damaging Het
Tcf19 A G 17: 35,826,822 (GRCm39) probably null Het
Tlr11 T C 14: 50,599,984 (GRCm39) F657L probably benign Het
Ube2frt G A 12: 36,140,635 (GRCm39) probably benign Het
Zbbx C T 3: 75,012,978 (GRCm39) G151E probably damaging Het
Zfp810 C T 9: 22,190,188 (GRCm39) C240Y 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
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
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'- GGGTTTTCATACACCCCAGAGT -3'
(R):5'- CAAGGTTATTGAGTGTCAGGTCA -3'

Sequencing Primer
(F):5'- GCAGAAGAAATGCGTTTCCTC -3'
(R):5'- CAGGTCAAACTGTTTAAGTAGCTGG -3'
Posted On 2015-04-29