Incidental Mutation 'IGL02658:Ttf1'
ID 302453
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 # IGL02658
Quality Score
Status
Chromosome 2
Chromosomal Location 28950274-28977668 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 28964023 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 633 (I633T)
Ref Sequence ENSEMBL: ENSMUSP00000097809 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100237]
AlphaFold Q62187
Predicted Effect probably damaging
Transcript: ENSMUST00000100237
AA Change: I633T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000097809
Gene: ENSMUSG00000026803
AA Change: I633T

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: ENSMUST00000142786
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b T A 11: 109,843,386 (GRCm39) Y946F probably benign Het
Abcb4 T G 5: 8,984,240 (GRCm39) W657G probably benign Het
Adcy1 T C 11: 7,088,279 (GRCm39) probably benign Het
Arap3 A G 18: 38,124,047 (GRCm39) V351A probably benign Het
Bpifb9b A C 2: 154,153,201 (GRCm39) Y89S probably benign Het
Carns1 C T 19: 4,223,083 (GRCm39) C47Y probably benign Het
Chd5 C T 4: 152,445,050 (GRCm39) H344Y probably damaging Het
Ctnna2 T C 6: 76,957,807 (GRCm39) T481A probably benign Het
Cyth1 T A 11: 118,073,072 (GRCm39) D264V probably damaging Het
Dph1 C A 11: 75,071,461 (GRCm39) L311F probably benign Het
Eif3l A G 15: 78,961,142 (GRCm39) D65G probably damaging Het
Gtf2a1l T A 17: 88,976,146 (GRCm39) F3Y probably benign Het
Hcn4 A T 9: 58,766,748 (GRCm39) T770S unknown Het
Hydin A T 8: 111,139,908 (GRCm39) I726F possibly damaging Het
Klf2 A G 8: 73,072,940 (GRCm39) I7V probably benign Het
Ltn1 A T 16: 87,212,662 (GRCm39) L633H probably damaging Het
Ncoa3 A G 2: 165,893,313 (GRCm39) D206G probably benign Het
Nlrp4a T G 7: 26,149,138 (GRCm39) D248E probably benign Het
Nyap1 A G 5: 137,733,746 (GRCm39) I429T probably damaging Het
Or1j10 T A 2: 36,267,072 (GRCm39) C95S probably damaging Het
Or2p2 G A 13: 21,256,982 (GRCm39) T163I probably damaging Het
Or2t6 T A 14: 14,175,732 (GRCm38) M117L possibly damaging Het
Or51g1 A G 7: 102,633,537 (GRCm39) M278T probably benign Het
Or8s16 A G 15: 98,211,237 (GRCm39) S65P probably damaging Het
Pcf11 T C 7: 92,296,254 (GRCm39) E1322G probably damaging Het
Plcxd2 A T 16: 45,792,689 (GRCm39) F217I probably benign Het
Plxna4 A T 6: 32,162,346 (GRCm39) I1389N probably damaging Het
Ppp1r15a T C 7: 45,174,091 (GRCm39) Y239C probably benign Het
Psma6 A G 12: 55,458,996 (GRCm39) E126G probably benign Het
R3hcc1l T A 19: 42,551,141 (GRCm39) V46E probably damaging Het
Rap1gds1 G T 3: 138,663,240 (GRCm39) H320N probably damaging Het
Sdhaf3 A G 6: 7,038,992 (GRCm39) M105V probably damaging Het
Slc22a26 T A 19: 7,765,613 (GRCm39) N345I probably benign Het
Sncaip T C 18: 53,028,027 (GRCm39) I412T possibly damaging Het
Sorcs1 A T 19: 50,178,530 (GRCm39) I864N probably damaging Het
Spag5 C T 11: 78,212,157 (GRCm39) Q1062* probably null Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Szrd1 A G 4: 140,867,057 (GRCm39) probably benign Het
Tns2 C A 15: 102,016,231 (GRCm39) probably benign Het
Trcg1 C A 9: 57,149,511 (GRCm39) S361* probably null Het
Tshz3 T C 7: 36,468,583 (GRCm39) F191L probably damaging Het
Ttc39a T C 4: 109,280,090 (GRCm39) V124A probably damaging Het
Zfp691 A G 4: 119,027,704 (GRCm39) F176S 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
IGL02148:Ttf1 APN 2 28,969,438 (GRCm39) missense probably benign 0.17
IGL02631:Ttf1 APN 2 28,959,912 (GRCm39) missense probably damaging 0.98
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