Incidental Mutation 'IGL02658:Ttf1'
ID302453
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ttf1
Ensembl Gene ENSMUSG00000026803
Gene Nametranscription termination factor, RNA polymerase I
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.936) question?
Stock #IGL02658
Quality Score
Status
Chromosome2
Chromosomal Location29060262-29087656 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 29074011 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 633 (I633T)
Ref Sequence ENSEMBL: ENSMUSP00000097809 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100237]
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: 109,952,560 Y946F probably benign Het
Abcb4 T G 5: 8,934,240 W657G probably benign Het
Adcy1 T C 11: 7,138,279 probably benign Het
Arap3 A G 18: 37,990,994 V351A probably benign Het
Bpifb9b A C 2: 154,311,281 Y89S probably benign Het
Carns1 C T 19: 4,173,084 C47Y probably benign Het
Chd5 C T 4: 152,360,593 H344Y probably damaging Het
Ctnna2 T C 6: 76,980,824 T481A probably benign Het
Cyth1 T A 11: 118,182,246 D264V probably damaging Het
Dph1 C A 11: 75,180,635 L311F probably benign Het
Eif3l A G 15: 79,076,942 D65G probably damaging Het
Gtf2a1l T A 17: 88,668,718 F3Y probably benign Het
Hcn4 A T 9: 58,859,465 T770S unknown Het
Hydin A T 8: 110,413,276 I726F possibly damaging Het
Klf2 A G 8: 72,319,096 I7V probably benign Het
Ltn1 A T 16: 87,415,774 L633H probably damaging Het
Ncoa3 A G 2: 166,051,393 D206G probably benign Het
Nlrp4a T G 7: 26,449,713 D248E probably benign Het
Nyap1 A G 5: 137,735,484 I429T probably damaging Het
Olfr1370 G A 13: 21,072,812 T163I probably damaging Het
Olfr285 A G 15: 98,313,356 S65P probably damaging Het
Olfr338 T A 2: 36,377,060 C95S probably damaging Het
Olfr578 A G 7: 102,984,330 M278T probably benign Het
Olfr720 T A 14: 14,175,732 M117L possibly damaging Het
Pcf11 T C 7: 92,647,046 E1322G probably damaging Het
Plcxd2 A T 16: 45,972,326 F217I probably benign Het
Plxna4 A T 6: 32,185,411 I1389N probably damaging Het
Ppp1r15a T C 7: 45,524,667 Y239C probably benign Het
Psma6 A G 12: 55,412,211 E126G probably benign Het
R3hcc1l T A 19: 42,562,702 V46E probably damaging Het
Rap1gds1 G T 3: 138,957,479 H320N probably damaging Het
Sdhaf3 A G 6: 7,038,992 M105V probably damaging Het
Slc22a26 T A 19: 7,788,248 N345I probably benign Het
Sncaip T C 18: 52,894,955 I412T possibly damaging Het
Sorcs1 A T 19: 50,190,092 I864N probably damaging Het
Spag5 C T 11: 78,321,331 Q1062* probably null Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Szrd1 A G 4: 141,139,746 probably benign Het
Tns2 C A 15: 102,107,796 probably benign Het
Trcg1 C A 9: 57,242,228 S361* probably null Het
Tshz3 T C 7: 36,769,158 F191L probably damaging Het
Ttc39a T C 4: 109,422,893 V124A probably damaging Het
Zfp691 A G 4: 119,170,507 F176S probably damaging Het
Other mutations in Ttf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00585:Ttf1 APN 2 29073883 splice site probably benign
IGL00916:Ttf1 APN 2 29070042 missense probably benign 0.05
IGL02148:Ttf1 APN 2 29079426 missense probably benign 0.17
IGL02631:Ttf1 APN 2 29069900 missense probably damaging 0.98
IGL03057:Ttf1 APN 2 29071345 missense probably damaging 0.98
R0026:Ttf1 UTSW 2 29071349 missense possibly damaging 0.95
R0047:Ttf1 UTSW 2 29084655 missense probably damaging 1.00
R0047:Ttf1 UTSW 2 29084655 missense probably damaging 1.00
R0427:Ttf1 UTSW 2 29065042 missense probably benign 0.00
R0466:Ttf1 UTSW 2 29065407 missense possibly damaging 0.79
R0834:Ttf1 UTSW 2 29073950 nonsense probably null
R1548:Ttf1 UTSW 2 29065138 missense probably damaging 0.96
R1672:Ttf1 UTSW 2 29067152 missense probably damaging 0.98
R1696:Ttf1 UTSW 2 29070002 missense probably damaging 1.00
R1819:Ttf1 UTSW 2 29074784 missense possibly damaging 0.60
R2000:Ttf1 UTSW 2 29065185 missense possibly damaging 0.79
R2126:Ttf1 UTSW 2 29071345 missense probably damaging 0.98
R2426:Ttf1 UTSW 2 29067185 missense probably damaging 0.98
R2967:Ttf1 UTSW 2 29065383 missense possibly damaging 0.56
R3499:Ttf1 UTSW 2 29065487 missense possibly damaging 0.92
R3963:Ttf1 UTSW 2 29064804 missense possibly damaging 0.68
R4342:Ttf1 UTSW 2 29065476 missense probably benign 0.01
R4627:Ttf1 UTSW 2 29065160 missense possibly damaging 0.72
R4676:Ttf1 UTSW 2 29074594 missense probably damaging 0.96
R4907:Ttf1 UTSW 2 29064656 missense possibly damaging 0.72
R4909:Ttf1 UTSW 2 29064656 missense possibly damaging 0.72
R4926:Ttf1 UTSW 2 29064656 missense possibly damaging 0.72
R4927:Ttf1 UTSW 2 29064656 missense possibly damaging 0.72
R5746:Ttf1 UTSW 2 29065742 missense probably damaging 0.96
R5948:Ttf1 UTSW 2 29073920 missense possibly damaging 0.50
R6911:Ttf1 UTSW 2 29064851 missense probably benign 0.41
R7909:Ttf1 UTSW 2 29065459 missense probably benign 0.00
R8141:Ttf1 UTSW 2 29067226 nonsense probably null
R8264:Ttf1 UTSW 2 29064677 missense possibly damaging 0.91
X0066:Ttf1 UTSW 2 29074775 missense probably benign 0.05
Z1176:Ttf1 UTSW 2 29065812 missense probably damaging 1.00
Z1176:Ttf1 UTSW 2 29071337 missense probably damaging 1.00
Posted On2015-04-16