Incidental Mutation 'IGL02148:Ttf1'
ID 281858
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ttf1
Ensembl Gene ENSMUSG00000026803
Gene Name transcription termination factor, RNA polymerase I
Synonyms
Accession Numbers
Essential gene? Probably essential (E-score: 0.936) question?
Stock # IGL02148
Quality Score
Status
Chromosome 2
Chromosomal Location 28950274-28977668 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 28969438 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 727 (F727L)
Ref Sequence ENSEMBL: ENSMUSP00000097809 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100237]
AlphaFold Q62187
Predicted Effect probably benign
Transcript: ENSMUST00000100237
AA Change: F727L

PolyPhen 2 Score 0.175 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000097809
Gene: ENSMUSG00000026803
AA Change: F727L

DomainStartEndE-ValueType
internal_repeat_1 13 67 1.04e-14 PROSPERO
internal_repeat_1 85 142 1.04e-14 PROSPERO
low complexity region 143 153 N/A INTRINSIC
low complexity region 171 183 N/A INTRINSIC
low complexity region 274 293 N/A INTRINSIC
low complexity region 350 387 N/A INTRINSIC
low complexity region 434 447 N/A INTRINSIC
low complexity region 451 461 N/A INTRINSIC
Blast:SANT 508 585 8e-28 BLAST
SANT 589 636 2.37e-6 SMART
SANT 638 720 1.8e-6 SMART
low complexity region 805 819 N/A INTRINSIC
low complexity region 842 857 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122866
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130506
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142786
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akna C T 4: 63,300,716 (GRCm39) probably benign Het
AU040320 T C 4: 126,733,469 (GRCm39) V663A possibly damaging Het
Cdh13 A G 8: 119,925,697 (GRCm39) D355G probably damaging Het
Cdyl2 A G 8: 117,315,983 (GRCm39) probably benign Het
Csnk1g3 C T 18: 54,086,360 (GRCm39) R422C probably benign Het
Dclk1 T A 3: 55,407,520 (GRCm39) V233D probably damaging Het
Ddx59 T C 1: 136,361,565 (GRCm39) S477P probably damaging Het
Epb41l1 A T 2: 156,353,748 (GRCm39) probably benign Het
Epha2 T C 4: 141,045,835 (GRCm39) L453P probably damaging Het
Esco2 T C 14: 66,064,044 (GRCm39) H380R probably benign Het
Fbxo38 T C 18: 62,669,298 (GRCm39) M51V probably benign Het
Fgb T C 3: 82,950,594 (GRCm39) M387V probably damaging Het
Fryl A G 5: 73,233,302 (GRCm39) L1522S probably benign Het
Gdf9 T A 11: 53,327,569 (GRCm39) M175K probably benign Het
Gm20547 C T 17: 35,079,524 (GRCm39) D243N probably benign Het
Gramd1b T A 9: 40,227,060 (GRCm39) D299V probably damaging Het
Gsg1l G T 7: 125,522,671 (GRCm39) Q186K possibly damaging Het
H2bl1 A T 13: 99,120,691 (GRCm39) F112I probably damaging Het
Katnip A T 7: 125,472,648 (GRCm39) probably null Het
Kcnh5 A G 12: 74,944,426 (GRCm39) L941P possibly damaging Het
Lrrc8d A G 5: 105,960,253 (GRCm39) D221G possibly damaging Het
Med19 T C 2: 84,515,603 (GRCm39) F96L probably damaging Het
Mei1 C A 15: 81,976,912 (GRCm39) S589* probably null Het
Myh15 G T 16: 48,936,678 (GRCm39) D708Y probably damaging Het
Naca C T 10: 127,879,753 (GRCm39) probably benign Het
Or5d43 A T 2: 88,104,566 (GRCm39) Y276N possibly damaging Het
Otog G A 7: 45,950,011 (GRCm39) C306Y probably damaging Het
Phldb1 T C 9: 44,607,369 (GRCm39) K1279E probably damaging Het
Pkd1 C T 17: 24,798,810 (GRCm39) T369I probably damaging Het
Plekha8 A G 6: 54,592,271 (GRCm39) S32G probably damaging Het
Pramel25 T A 4: 143,519,304 (GRCm39) Y22N probably benign Het
Sema4g A G 19: 44,984,908 (GRCm39) T113A probably damaging Het
Setdb2 C T 14: 59,639,764 (GRCm39) R709Q probably damaging Het
Sh3rf3 T C 10: 58,922,562 (GRCm39) M546T probably benign Het
Slc27a5 A G 7: 12,728,878 (GRCm39) V328A probably damaging Het
Spef1 T C 2: 131,014,688 (GRCm39) N78S probably benign Het
Tln1 T C 4: 43,555,388 (GRCm39) T179A probably damaging Het
Tmc5 T C 7: 118,244,547 (GRCm39) I475T probably damaging Het
Top2b A G 14: 16,400,488 (GRCm38) Y621C probably damaging Het
Tufm T C 7: 126,088,332 (GRCm39) L75P probably damaging Het
Ugt1a2 T A 1: 88,128,796 (GRCm39) D146E probably damaging Het
Usp15 G A 10: 122,963,742 (GRCm39) T533I probably damaging Het
Vmn1r113 A G 7: 20,521,747 (GRCm39) T180A probably benign Het
Vmn1r205 G T 13: 22,776,395 (GRCm39) P236T probably damaging Het
Vmn2r112 T G 17: 22,838,013 (GRCm39) C825G probably damaging Het
Zfp712 T A 13: 67,190,222 (GRCm39) I102F probably damaging Het
Other mutations in Ttf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00585:Ttf1 APN 2 28,963,895 (GRCm39) splice site probably benign
IGL00916:Ttf1 APN 2 28,960,054 (GRCm39) missense probably benign 0.05
IGL02631:Ttf1 APN 2 28,959,912 (GRCm39) missense probably damaging 0.98
IGL02658:Ttf1 APN 2 28,964,023 (GRCm39) missense probably damaging 1.00
IGL03057:Ttf1 APN 2 28,961,357 (GRCm39) missense probably damaging 0.98
R0026:Ttf1 UTSW 2 28,961,361 (GRCm39) missense possibly damaging 0.95
R0047:Ttf1 UTSW 2 28,974,667 (GRCm39) missense probably damaging 1.00
R0047:Ttf1 UTSW 2 28,974,667 (GRCm39) missense probably damaging 1.00
R0427:Ttf1 UTSW 2 28,955,054 (GRCm39) missense probably benign 0.00
R0466:Ttf1 UTSW 2 28,955,419 (GRCm39) missense possibly damaging 0.79
R0834:Ttf1 UTSW 2 28,963,962 (GRCm39) nonsense probably null
R1548:Ttf1 UTSW 2 28,955,150 (GRCm39) missense probably damaging 0.96
R1672:Ttf1 UTSW 2 28,957,164 (GRCm39) missense probably damaging 0.98
R1696:Ttf1 UTSW 2 28,960,014 (GRCm39) missense probably damaging 1.00
R1819:Ttf1 UTSW 2 28,964,796 (GRCm39) missense possibly damaging 0.60
R2000:Ttf1 UTSW 2 28,955,197 (GRCm39) missense possibly damaging 0.79
R2126:Ttf1 UTSW 2 28,961,357 (GRCm39) missense probably damaging 0.98
R2426:Ttf1 UTSW 2 28,957,197 (GRCm39) missense probably damaging 0.98
R2967:Ttf1 UTSW 2 28,955,395 (GRCm39) missense possibly damaging 0.56
R3499:Ttf1 UTSW 2 28,955,499 (GRCm39) missense possibly damaging 0.92
R3963:Ttf1 UTSW 2 28,954,816 (GRCm39) missense possibly damaging 0.68
R4342:Ttf1 UTSW 2 28,955,488 (GRCm39) missense probably benign 0.01
R4627:Ttf1 UTSW 2 28,955,172 (GRCm39) missense possibly damaging 0.72
R4676:Ttf1 UTSW 2 28,964,606 (GRCm39) missense probably damaging 0.96
R4907:Ttf1 UTSW 2 28,954,668 (GRCm39) missense possibly damaging 0.72
R4909:Ttf1 UTSW 2 28,954,668 (GRCm39) missense possibly damaging 0.72
R4926:Ttf1 UTSW 2 28,954,668 (GRCm39) missense possibly damaging 0.72
R4927:Ttf1 UTSW 2 28,954,668 (GRCm39) missense possibly damaging 0.72
R5746:Ttf1 UTSW 2 28,955,754 (GRCm39) missense probably damaging 0.96
R5948:Ttf1 UTSW 2 28,963,932 (GRCm39) missense possibly damaging 0.50
R6911:Ttf1 UTSW 2 28,954,863 (GRCm39) missense probably benign 0.41
R7909:Ttf1 UTSW 2 28,955,471 (GRCm39) missense probably benign 0.00
R8141:Ttf1 UTSW 2 28,957,238 (GRCm39) nonsense probably null
R8264:Ttf1 UTSW 2 28,954,689 (GRCm39) missense possibly damaging 0.91
R8863:Ttf1 UTSW 2 28,969,492 (GRCm39) critical splice donor site probably null
R9094:Ttf1 UTSW 2 28,957,080 (GRCm39) missense probably benign 0.15
R9281:Ttf1 UTSW 2 28,955,902 (GRCm39) missense probably benign 0.01
R9318:Ttf1 UTSW 2 28,964,666 (GRCm39) missense possibly damaging 0.47
R9440:Ttf1 UTSW 2 28,955,709 (GRCm39) missense probably benign 0.41
R9483:Ttf1 UTSW 2 28,969,492 (GRCm39) critical splice donor site probably null
X0066:Ttf1 UTSW 2 28,964,787 (GRCm39) missense probably benign 0.05
Z1176:Ttf1 UTSW 2 28,961,349 (GRCm39) missense probably damaging 1.00
Z1176:Ttf1 UTSW 2 28,955,824 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16