Incidental Mutation 'IGL01118:Ttf2'
ID50760
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ttf2
Ensembl Gene ENSMUSG00000033222
Gene Nametranscription termination factor, RNA polymerase II
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.954) question?
Stock #IGL01118
Quality Score
Status
Chromosome3
Chromosomal Location100938860-100969663 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 100967097 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000076208 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076941]
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127357
Coding Region Coverage
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik C T 3: 124,401,409 R539Q probably benign Het
Abcb1a G A 5: 8,674,687 R40H probably damaging Het
Acan T A 7: 79,098,653 S1057R possibly damaging Het
Ahnak A T 19: 9,012,578 D3742V probably damaging Het
Amdhd1 A T 10: 93,531,568 D241E probably benign Het
Cntn5 T C 9: 9,831,560 Y605C possibly damaging Het
Dgcr14 A T 16: 17,902,932 I350N probably damaging Het
Dnmt3l T C 10: 78,057,286 F299S probably damaging Het
G6pd2 A T 5: 61,810,063 M394L probably benign Het
Gm21319 T A 12: 87,773,442 N116Y probably damaging Het
Gm9839 A T 1: 32,519,843 M386K probably benign Het
Gtf2h3 T C 5: 124,595,668 V268A probably damaging Het
Hgs T C 11: 120,475,214 V195A probably damaging Het
Igkv3-2 A T 6: 70,698,994 S96C probably damaging Het
Mgl2 A G 11: 70,134,189 E12G probably benign Het
Mup11 A T 4: 60,659,780 F153I probably damaging Het
Nf1 T A 11: 79,546,986 C2057S probably damaging Het
Nkrf A G X: 36,888,757 F624S probably damaging Het
Noto T C 6: 85,424,210 S74P probably benign Het
Olfr1090 A G 2: 86,753,970 I256T probably benign Het
Pax8 T C 2: 24,442,932 probably benign Het
Psg28 A T 7: 18,428,092 V162D probably damaging Het
Rai1 T C 11: 60,187,438 F776S probably damaging Het
Taar8a A T 10: 24,076,861 H121L probably damaging Het
Tas2r113 A G 6: 132,893,315 N102S probably benign Het
Trpm1 A G 7: 64,235,824 T863A probably benign Het
Wdr62 T C 7: 30,242,781 H611R probably damaging Het
Wdr90 A T 17: 25,854,687 L762Q probably damaging Het
Yeats2 T G 16: 20,186,304 S364A probably damaging Het
Zdhhc15 G T X: 104,598,106 Q82K probably benign Het
Other mutations in Ttf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01578:Ttf2 APN 3 100956195 missense possibly damaging 0.59
IGL02218:Ttf2 APN 3 100964093 missense possibly damaging 0.61
IGL03267:Ttf2 APN 3 100944804 nonsense probably null
FR4548:Ttf2 UTSW 3 100963160 small insertion probably benign
FR4737:Ttf2 UTSW 3 100963160 small insertion probably benign
R0784:Ttf2 UTSW 3 100962710 missense probably benign 0.01
R0894:Ttf2 UTSW 3 100969549 splice site probably benign
R2083:Ttf2 UTSW 3 100969501 missense probably benign 0.18
R2125:Ttf2 UTSW 3 100948193 missense possibly damaging 0.93
R2126:Ttf2 UTSW 3 100948193 missense possibly damaging 0.93
R2230:Ttf2 UTSW 3 100957944 missense probably damaging 0.99
R3084:Ttf2 UTSW 3 100948264 missense possibly damaging 0.56
R3700:Ttf2 UTSW 3 100951008 missense probably damaging 1.00
R3963:Ttf2 UTSW 3 100941820 unclassified probably benign
R4002:Ttf2 UTSW 3 100948225 nonsense probably null
R4290:Ttf2 UTSW 3 100962761 missense probably benign 0.01
R4833:Ttf2 UTSW 3 100961406 missense probably benign 0.00
R4909:Ttf2 UTSW 3 100954315 missense probably damaging 1.00
R5011:Ttf2 UTSW 3 100963169 missense probably benign 0.14
R5523:Ttf2 UTSW 3 100959242 missense probably damaging 1.00
R5669:Ttf2 UTSW 3 100951117 nonsense probably null
R6531:Ttf2 UTSW 3 100956260 missense probably damaging 0.99
R6776:Ttf2 UTSW 3 100952553 missense probably benign 0.01
R6795:Ttf2 UTSW 3 100959262 missense probably damaging 1.00
R6861:Ttf2 UTSW 3 100969625 missense possibly damaging 0.89
R6940:Ttf2 UTSW 3 100969515 missense probably damaging 1.00
R6958:Ttf2 UTSW 3 100945932 missense probably benign 0.30
R6962:Ttf2 UTSW 3 100951137 missense probably damaging 1.00
R7211:Ttf2 UTSW 3 100959307 missense probably benign 0.00
R7365:Ttf2 UTSW 3 100963302 missense possibly damaging 0.92
R7470:Ttf2 UTSW 3 100963162 missense possibly damaging 0.85
R7534:Ttf2 UTSW 3 100950412 intron probably null
R8023:Ttf2 UTSW 3 100956255 missense probably benign 0.01
R8087:Ttf2 UTSW 3 100964096 missense probably damaging 0.96
RF027:Ttf2 UTSW 3 100963157 small insertion probably benign
RF035:Ttf2 UTSW 3 100963157 small insertion probably benign
Z1177:Ttf2 UTSW 3 100959266 nonsense probably null
Posted On2013-06-21