Incidental Mutation 'IGL02028:Ubtfl1'
ID184259
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ubtfl1
Ensembl Gene ENSMUSG00000074502
Gene Nameupstream binding transcription factor, RNA polymerase I-like 1
SynonymsHmgpi, B020006M18Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.158) question?
Stock #IGL02028
Quality Score
Status
Chromosome9
Chromosomal Location18404418-18413177 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 18409553 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Asparagine at position 126 (Y126N)
Ref Sequence ENSEMBL: ENSMUSP00000126540 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098973] [ENSMUST00000164441] [ENSMUST00000169398]
Predicted Effect possibly damaging
Transcript: ENSMUST00000098973
AA Change: Y126N

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000096572
Gene: ENSMUSG00000074502
AA Change: Y126N

DomainStartEndE-ValueType
Blast:SANT 6 64 1e-17 BLAST
HMG 100 170 5.61e-16 SMART
HMG 224 292 3.79e-4 SMART
low complexity region 297 307 N/A INTRINSIC
low complexity region 373 394 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000164441
AA Change: Y126N

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000129611
Gene: ENSMUSG00000074502
AA Change: Y126N

DomainStartEndE-ValueType
Blast:SANT 6 64 1e-17 BLAST
HMG 100 170 5.61e-16 SMART
HMG 224 292 3.79e-4 SMART
low complexity region 297 307 N/A INTRINSIC
low complexity region 373 394 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000169398
AA Change: Y126N

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000126540
Gene: ENSMUSG00000074502
AA Change: Y126N

DomainStartEndE-ValueType
Blast:SANT 6 64 1e-17 BLAST
HMG 100 170 5.61e-16 SMART
HMG 224 292 3.79e-4 SMART
low complexity region 297 307 N/A INTRINSIC
low complexity region 373 394 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi2 A G 1: 60,434,283 Y53C probably damaging Het
Acacb T A 5: 114,166,015 D166E probably damaging Het
Akap8l T C 17: 32,338,521 probably null Het
Arl6ip5 A G 6: 97,229,650 Y97C probably damaging Het
Atad5 T A 11: 80,134,110 S1772R probably benign Het
Ccdc106 A G 7: 5,059,646 Q155R probably damaging Het
Ccdc33 T C 9: 58,076,578 N446S probably benign Het
Cd3eap T C 7: 19,357,078 K368R probably damaging Het
Cdh2 T C 18: 16,650,420 D84G probably benign Het
Cntn6 A G 6: 104,859,426 K918E probably damaging Het
Dock6 T C 9: 21,838,826 D521G probably damaging Het
Etv6 C T 6: 134,248,733 A309V probably benign Het
Ezh1 G T 11: 101,199,340 H529Q probably damaging Het
Figla T C 6: 86,017,363 L40P probably damaging Het
Gabra4 T A 5: 71,633,596 Q301L probably damaging Het
Glt1d1 G A 5: 127,706,920 V313M possibly damaging Het
Gm28778 T A 1: 53,317,961 I94K possibly damaging Het
Gm4847 T C 1: 166,642,196 K103E probably benign Het
Gne A G 4: 44,066,852 S23P probably damaging Het
Hipk2 A G 6: 38,818,756 C186R possibly damaging Het
Lrp1b C T 2: 41,511,452 V283I probably damaging Het
Mcm10 A T 2: 5,008,700 D40E possibly damaging Het
Morc2b T A 17: 33,137,413 I462F possibly damaging Het
Myh1 T A 11: 67,210,615 I711N probably damaging Het
Oit3 A G 10: 59,438,655 F108L probably damaging Het
Olfr1289 T C 2: 111,483,471 F14L probably benign Het
Olfr913 T A 9: 38,594,419 L66* probably null Het
Rbm19 A G 5: 120,120,236 D172G probably damaging Het
Ribc2 A G 15: 85,143,335 D339G possibly damaging Het
Rras2 C A 7: 114,060,362 V56L probably benign Het
Scn2a A G 2: 65,763,658 E1617G probably damaging Het
Slc13a1 T A 6: 24,118,031 M236L probably benign Het
Snrnp27 C T 6: 86,682,973 R13H unknown Het
Srgap2 T C 1: 131,296,435 K92E probably damaging Het
Suco T C 1: 161,856,859 K231E possibly damaging Het
Tll2 C A 19: 41,098,649 E588* probably null Het
Tmem215 A T 4: 40,473,940 I6L possibly damaging Het
Tnc A C 4: 63,966,672 probably benign Het
Tob1 G A 11: 94,214,226 G196D probably benign Het
Uck1 G T 2: 32,258,137 Q192K probably damaging Het
Vdac3-ps1 A G 13: 18,030,884 noncoding transcript Het
Vmn1r88 C T 7: 13,177,792 S25L probably benign Het
Vmn2r109 T G 17: 20,541,080 I672L probably benign Het
Vmn2r23 T C 6: 123,741,860 F724S probably damaging Het
Vmn2r54 A T 7: 12,632,161 F282Y probably damaging Het
Vmn2r82 A T 10: 79,379,223 I347F probably benign Het
Wasf2 G A 4: 133,195,801 R474H probably damaging Het
Wdr60 C A 12: 116,256,061 R87L probably benign Het
Zmym5 T C 14: 56,804,160 H162R possibly damaging Het
Other mutations in Ubtfl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01886:Ubtfl1 APN 9 18409721 missense possibly damaging 0.93
R0112:Ubtfl1 UTSW 9 18409787 missense probably benign 0.24
R0600:Ubtfl1 UTSW 9 18409364 missense probably damaging 1.00
R1450:Ubtfl1 UTSW 9 18409913 missense possibly damaging 0.54
R1511:Ubtfl1 UTSW 9 18410193 missense probably benign 0.00
R2007:Ubtfl1 UTSW 9 18409251 missense possibly damaging 0.93
R3611:Ubtfl1 UTSW 9 18409365 missense probably damaging 1.00
R3836:Ubtfl1 UTSW 9 18409237 missense possibly damaging 0.67
R4088:Ubtfl1 UTSW 9 18409968 missense probably damaging 0.98
R4577:Ubtfl1 UTSW 9 18409493 missense probably damaging 1.00
R5057:Ubtfl1 UTSW 9 18409191 missense possibly damaging 0.83
R5224:Ubtfl1 UTSW 9 18410030 missense probably benign 0.34
R5284:Ubtfl1 UTSW 9 18409445 nonsense probably null
R5965:Ubtfl1 UTSW 9 18409542 missense probably benign 0.04
R6261:Ubtfl1 UTSW 9 18409296 missense possibly damaging 0.65
R6449:Ubtfl1 UTSW 9 18409629 missense possibly damaging 0.88
R6951:Ubtfl1 UTSW 9 18409577 missense probably benign 0.03
R7130:Ubtfl1 UTSW 9 18409847 missense probably damaging 1.00
R7133:Ubtfl1 UTSW 9 18409635 missense probably damaging 1.00
R7664:Ubtfl1 UTSW 9 18409486 missense possibly damaging 0.66
R7718:Ubtfl1 UTSW 9 18409231 missense possibly damaging 0.77
R8171:Ubtfl1 UTSW 9 18409227 missense probably benign 0.09
Z1177:Ubtfl1 UTSW 9 18409667 missense probably damaging 1.00
Posted On2014-05-07