Incidental Mutation 'IGL01886:Ubtfl1'
ID 179130
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ubtfl1
Ensembl Gene ENSMUSG00000074502
Gene Name upstream binding transcription factor, RNA polymerase I-like 1
Synonyms Hmgpi, B020006M18Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.129) question?
Stock # IGL01886
Quality Score
Status
Chromosome 9
Chromosomal Location 18404418-18413177 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 18409721 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 182 (V182M)
Ref Sequence ENSEMBL: ENSMUSP00000126540 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098973] [ENSMUST00000164441] [ENSMUST00000169398]
AlphaFold Q3USZ2
Predicted Effect possibly damaging
Transcript: ENSMUST00000098973
AA Change: V182M

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000096572
Gene: ENSMUSG00000074502
AA Change: V182M

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: V182M

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000129611
Gene: ENSMUSG00000074502
AA Change: V182M

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: V182M

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000126540
Gene: ENSMUSG00000074502
AA Change: V182M

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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akt1 C T 12: 112,659,158 V136M probably benign Het
Ankrd34c A T 9: 89,730,265 L8M possibly damaging Het
Anks6 C A 4: 47,044,850 W352L probably damaging Het
Arhgap12 A T 18: 6,027,613 N768K probably damaging Het
C130026I21Rik A G 1: 85,254,186 probably benign Het
Clec7a A T 6: 129,463,177 probably benign Het
Cyp3a13 G A 5: 137,898,820 P411S probably damaging Het
Elavl2 A G 4: 91,264,093 V129A probably damaging Het
Ercc6 T A 14: 32,569,580 S994T possibly damaging Het
Esco1 T A 18: 10,595,262 K8I probably damaging Het
Esr1 T A 10: 4,856,861 I259K probably damaging Het
Filip1l A G 16: 57,571,250 I734V possibly damaging Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Grin3a T A 4: 49,702,814 I891F probably damaging Het
Kat7 T C 11: 95,306,133 T27A probably benign Het
Kdm1a A G 4: 136,561,016 probably null Het
Kifc5b T C 17: 26,932,117 V663A probably damaging Het
Lama1 T G 17: 67,807,797 S2314A probably benign Het
Lrrc69 C T 4: 14,703,984 V279I probably benign Het
Mast3 A T 8: 70,782,139 L774Q possibly damaging Het
Med27 C A 2: 29,413,482 P9Q probably damaging Het
Myo5a C A 9: 75,169,090 probably benign Het
Myoz1 T C 14: 20,655,309 K14E probably damaging Het
Neb T C 2: 52,183,845 probably benign Het
Nlrp1a T C 11: 71,123,501 T308A probably benign Het
Olfr364-ps1 A G 2: 37,146,509 Y99C probably damaging Het
Olfr926 G T 9: 38,877,548 C124F probably damaging Het
Orc1 T A 4: 108,603,957 probably null Het
Pnkp G A 7: 44,862,207 A76T probably damaging Het
Polr3h T C 15: 81,917,390 E95G probably damaging Het
Prpf40b T A 15: 99,304,447 M62K unknown Het
Prpf8 C A 11: 75,495,744 Q1075K probably benign Het
Ptprg A G 14: 12,179,280 K766E probably benign Het
Rabgap1l A T 1: 160,342,042 N778K probably damaging Het
Riok3 T A 18: 12,139,385 N204K probably damaging Het
Shank3 A G 15: 89,531,663 K650E probably damaging Het
Sim1 T A 10: 50,984,315 S758T probably damaging Het
Slu7 T G 11: 43,439,260 N171K probably damaging Het
Sult6b2 A G 6: 142,790,126 probably null Het
Taf6l C T 19: 8,778,086 probably null Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Other mutations in Ubtfl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02028:Ubtfl1 APN 9 18409553 missense possibly damaging 0.83
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
R8789:Ubtfl1 UTSW 9 18410313 missense unknown
R8811:Ubtfl1 UTSW 9 18410163 missense probably benign
R8993:Ubtfl1 UTSW 9 18410341 missense
Z1177:Ubtfl1 UTSW 9 18409667 missense probably damaging 1.00
Posted On 2014-05-07