Incidental Mutation 'R5224:Ubtfl1'
ID 402503
Institutional Source Beutler Lab
Gene Symbol Ubtfl1
Ensembl Gene ENSMUSG00000074502
Gene Name upstream binding transcription factor, RNA polymerase I-like 1
Synonyms B020006M18Rik, Hmgpi
MMRRC Submission 042797-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.132) question?
Stock # R5224 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 18315714-18322798 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 18321326 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 285 (V285L)
Ref Sequence ENSEMBL: ENSMUSP00000126540 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098973] [ENSMUST00000164441] [ENSMUST00000169398]
AlphaFold Q3USZ2
Predicted Effect probably benign
Transcript: ENSMUST00000098973
AA Change: V285L

PolyPhen 2 Score 0.339 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000096572
Gene: ENSMUSG00000074502
AA Change: V285L

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 probably benign
Transcript: ENSMUST00000164441
AA Change: V285L

PolyPhen 2 Score 0.339 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000129611
Gene: ENSMUSG00000074502
AA Change: V285L

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 probably benign
Transcript: ENSMUST00000169398
AA Change: V285L

PolyPhen 2 Score 0.339 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000126540
Gene: ENSMUSG00000074502
AA Change: V285L

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency 98% (58/59)
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb3 CGTGACCTTTCTGGT CGT 10: 85,481,386 (GRCm39) probably benign Het
Ahi1 A G 10: 20,862,921 (GRCm39) S699G probably damaging Het
Atp10d C T 5: 72,426,669 (GRCm39) A959V probably benign Het
Axl T C 7: 25,486,369 (GRCm39) M112V probably benign Het
Brd10 A T 19: 29,696,450 (GRCm39) S1014R possibly damaging Het
Camk1g A T 1: 193,037,342 (GRCm39) D119E probably damaging Het
Capn8 A C 1: 182,424,554 (GRCm39) N117T probably damaging Het
Cct3 G A 3: 88,204,532 (GRCm39) probably benign Het
Csmd3 T C 15: 47,752,080 (GRCm39) T1293A possibly damaging Het
Depdc1b A G 13: 108,521,354 (GRCm39) D387G probably damaging Het
Dtx3l A G 16: 35,759,163 (GRCm39) Y29H possibly damaging Het
Erp44 A T 4: 48,279,435 (GRCm39) N2K probably benign Het
Fmn1 A G 2: 113,195,470 (GRCm39) E390G unknown Het
Ganab T A 19: 8,887,955 (GRCm39) D396E probably benign Het
Gatd3a A G 10: 77,999,367 (GRCm39) V148A probably damaging Het
Gcc2 T A 10: 58,121,982 (GRCm39) S1140T probably damaging Het
Gm7008 T C 12: 40,273,342 (GRCm39) probably benign Het
Gphn T A 12: 78,637,361 (GRCm39) F354I probably damaging Het
H2-T7 G A 17: 36,454,231 (GRCm39) noncoding transcript Het
Hnrnpul1 G A 7: 25,444,600 (GRCm39) T236M probably damaging Het
Itpr2 T A 6: 146,068,149 (GRCm39) M2410L probably benign Het
Jaml T A 9: 45,015,564 (GRCm39) M356K probably damaging Het
Kbtbd12 T A 6: 88,594,681 (GRCm39) probably benign Het
Ldlrad3 G T 2: 101,943,954 (GRCm39) N39K probably damaging Het
Lrp1b G A 2: 41,000,852 (GRCm39) T2238I possibly damaging Het
Lypd8 T A 11: 58,277,634 (GRCm39) C139S possibly damaging Het
Masp1 G T 16: 23,313,445 (GRCm39) H163Q probably damaging Het
Mpo T C 11: 87,687,283 (GRCm39) probably benign Het
Muc19 A T 15: 91,825,910 (GRCm39) noncoding transcript Het
Muc5ac T A 7: 141,347,708 (GRCm39) S438T probably benign Het
Nav2 T C 7: 49,201,473 (GRCm39) V160A probably benign Het
Nlrc5 G T 8: 95,220,944 (GRCm39) A1128S probably benign Het
Nlrp5 T A 7: 23,117,401 (GRCm39) L375Q probably damaging Het
Nlrp9a A G 7: 26,256,717 (GRCm39) T112A probably benign Het
Nppa T C 4: 148,085,773 (GRCm39) S127P probably damaging Het
Or8k24 A G 2: 86,216,193 (GRCm39) S190P possibly damaging Het
Osbpl1a T C 18: 13,066,753 (GRCm39) N2S probably benign Het
Otoa A G 7: 120,739,016 (GRCm39) T742A probably damaging Het
Pcdh10 A G 3: 45,347,249 (GRCm39) R1015G probably damaging Het
Pdzrn3 C T 6: 101,130,272 (GRCm39) D515N probably damaging Het
Plpp1 T A 13: 112,988,046 (GRCm39) Y56* probably null Het
Ppp1r12a A G 10: 108,096,886 (GRCm39) T236A probably benign Het
Rhag T C 17: 41,139,395 (GRCm39) L110P probably damaging Het
Scn11a T A 9: 119,583,858 (GRCm39) N1586Y probably damaging Het
Sgms2 T A 3: 131,135,766 (GRCm39) K36I probably damaging Het
Slc22a2 A G 17: 12,805,719 (GRCm39) N157D probably damaging Het
Stx19 T G 16: 62,642,937 (GRCm39) M251R probably benign Het
Suco A G 1: 161,662,274 (GRCm39) I719T probably benign Het
Tnr A G 1: 159,750,885 (GRCm39) D1282G probably damaging Het
Tram1 T C 1: 13,648,349 (GRCm39) R154G probably benign Het
Ugt2b38 A G 5: 87,571,601 (GRCm39) S144P probably benign Het
Washc2 T G 6: 116,185,965 (GRCm39) *58G probably null Het
Zfp354a T A 11: 50,960,876 (GRCm39) S362R probably damaging Het
Other mutations in Ubtfl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01886:Ubtfl1 APN 9 18,321,017 (GRCm39) missense possibly damaging 0.93
IGL02028:Ubtfl1 APN 9 18,320,849 (GRCm39) missense possibly damaging 0.83
R0112:Ubtfl1 UTSW 9 18,321,083 (GRCm39) missense probably benign 0.24
R0600:Ubtfl1 UTSW 9 18,320,660 (GRCm39) missense probably damaging 1.00
R1450:Ubtfl1 UTSW 9 18,321,209 (GRCm39) missense possibly damaging 0.54
R1511:Ubtfl1 UTSW 9 18,321,489 (GRCm39) missense probably benign 0.00
R2007:Ubtfl1 UTSW 9 18,320,547 (GRCm39) missense possibly damaging 0.93
R3611:Ubtfl1 UTSW 9 18,320,661 (GRCm39) missense probably damaging 1.00
R3836:Ubtfl1 UTSW 9 18,320,533 (GRCm39) missense possibly damaging 0.67
R4088:Ubtfl1 UTSW 9 18,321,264 (GRCm39) missense probably damaging 0.98
R4577:Ubtfl1 UTSW 9 18,320,789 (GRCm39) missense probably damaging 1.00
R5057:Ubtfl1 UTSW 9 18,320,487 (GRCm39) missense possibly damaging 0.83
R5284:Ubtfl1 UTSW 9 18,320,741 (GRCm39) nonsense probably null
R5965:Ubtfl1 UTSW 9 18,320,838 (GRCm39) missense probably benign 0.04
R6261:Ubtfl1 UTSW 9 18,320,592 (GRCm39) missense possibly damaging 0.65
R6449:Ubtfl1 UTSW 9 18,320,925 (GRCm39) missense possibly damaging 0.88
R6951:Ubtfl1 UTSW 9 18,320,873 (GRCm39) missense probably benign 0.03
R7130:Ubtfl1 UTSW 9 18,321,143 (GRCm39) missense probably damaging 1.00
R7133:Ubtfl1 UTSW 9 18,320,931 (GRCm39) missense probably damaging 1.00
R7664:Ubtfl1 UTSW 9 18,320,782 (GRCm39) missense possibly damaging 0.66
R7718:Ubtfl1 UTSW 9 18,320,527 (GRCm39) missense possibly damaging 0.77
R8171:Ubtfl1 UTSW 9 18,320,523 (GRCm39) missense probably benign 0.09
R8789:Ubtfl1 UTSW 9 18,321,609 (GRCm39) missense unknown
R8811:Ubtfl1 UTSW 9 18,321,459 (GRCm39) missense probably benign
R8993:Ubtfl1 UTSW 9 18,321,637 (GRCm39) missense
R9536:Ubtfl1 UTSW 9 18,320,537 (GRCm39) missense probably benign 0.10
Z1177:Ubtfl1 UTSW 9 18,320,963 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCTCCCAGAACAGTTTCTTCAG -3'
(R):5'- AGTCCCTGAGGAATCTGTCC -3'

Sequencing Primer
(F):5'- CTCCCAGAACAGTTTCTTCAGATATG -3'
(R):5'- GGAATCTGTCCCAGGATCTAATAGC -3'
Posted On 2016-07-22