Incidental Mutation 'R6261:Ubtfl1'
ID 506704
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 044404-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.132) question?
Stock # R6261 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 18315714-18322798 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 18320592 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 40 (D40A)
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: D40A

PolyPhen 2 Score 0.651 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000096572
Gene: ENSMUSG00000074502
AA Change: D40A

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: D40A

PolyPhen 2 Score 0.651 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000129611
Gene: ENSMUSG00000074502
AA Change: D40A

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: D40A

PolyPhen 2 Score 0.651 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000126540
Gene: ENSMUSG00000074502
AA Change: D40A

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
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.7%
Validation Efficiency 100% (65/65)
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot8 T C 2: 164,636,979 (GRCm39) D257G probably damaging Het
Adamtsl1 T C 4: 86,255,115 (GRCm39) V736A probably benign Het
Anln A G 9: 22,275,342 (GRCm39) L521S probably damaging Het
Arfgap2 T G 2: 91,100,627 (GRCm39) S311A probably benign Het
Brdt A T 5: 107,496,369 (GRCm39) E160D probably benign Het
Ccdc187 A G 2: 26,166,215 (GRCm39) I738T probably damaging Het
Cd59a G C 2: 103,934,550 (GRCm39) G6A probably damaging Het
Cd5l C T 3: 87,275,915 (GRCm39) P295L probably benign Het
Cdhr17 T C 5: 17,017,183 (GRCm39) noncoding transcript Het
Cnot1 A G 8: 96,468,549 (GRCm39) S1432P probably benign Het
Cnot8 T A 11: 58,004,877 (GRCm39) I192N probably damaging Het
Col4a1 G T 8: 11,257,409 (GRCm39) probably null Het
Cuta A G 17: 27,158,301 (GRCm39) L11P possibly damaging Het
Cyp2c39 G A 19: 39,556,463 (GRCm39) R433H probably damaging Het
Cyp4a12b T A 4: 115,271,740 (GRCm39) Y150* probably null Het
Dcaf15 G A 8: 84,825,734 (GRCm39) A291V probably benign Het
Dcstamp A T 15: 39,618,131 (GRCm39) H180L possibly damaging Het
Egfr A G 11: 16,839,964 (GRCm39) I659M probably benign Het
Fzd8 A G 18: 9,214,598 (GRCm39) E560G possibly damaging Het
Gm5111 A T 6: 48,566,526 (GRCm39) probably benign Het
Gm7945 T C 14: 41,104,780 (GRCm39) T214A unknown Het
Gpi1 T C 7: 33,920,170 (GRCm39) T168A possibly damaging Het
Gys2 T C 6: 142,405,134 (GRCm39) I218V probably benign Het
Gzmf T A 14: 56,443,949 (GRCm39) I74L probably benign Het
Hacl1 G A 14: 31,357,728 (GRCm39) A70V probably damaging Het
Herc2 T A 7: 55,846,820 (GRCm39) L3590* probably null Het
Idh2 GGTCCCAG GG 7: 79,748,077 (GRCm39) probably benign Het
Igfals G T 17: 25,100,339 (GRCm39) V477F possibly damaging Het
Igkv8-28 A T 6: 70,120,874 (GRCm39) V23E probably benign Het
Isg20l2 T A 3: 87,839,395 (GRCm39) V202E probably damaging Het
Jakmip2 A G 18: 43,708,599 (GRCm39) I288T probably benign Het
Kansl3 A G 1: 36,404,686 (GRCm39) V88A probably benign Het
Kcna3 A G 3: 106,945,266 (GRCm39) T510A possibly damaging Het
Map2k5 G T 9: 63,245,380 (GRCm39) L140I probably benign Het
Map3k19 A G 1: 127,750,336 (GRCm39) I1005T possibly damaging Het
Mmp25 G A 17: 23,849,768 (GRCm39) A541V possibly damaging Het
Ms4a14 T A 19: 11,281,384 (GRCm39) E391D probably benign Het
Mtrf1l A G 10: 5,765,550 (GRCm39) probably null Het
Myom1 A G 17: 71,433,132 (GRCm39) N1591S probably damaging Het
Nos1 G A 5: 118,074,635 (GRCm39) V1060M probably benign Het
Nsun5 C T 5: 135,400,385 (GRCm39) T142M probably damaging Het
Odc1 A G 12: 17,600,655 (GRCm39) E430G probably benign Het
Or8g36 C A 9: 39,422,105 (GRCm39) V304F probably benign Het
P2ry12 T C 3: 59,125,328 (GRCm39) I116V probably null Het
Patl1 T A 19: 11,897,695 (GRCm39) V94E probably damaging Het
Plin3 A T 17: 56,588,488 (GRCm39) Y255* probably null Het
Pou6f1 T C 15: 100,477,827 (GRCm39) T439A probably damaging Het
Prdm13 T C 4: 21,678,366 (GRCm39) K708R probably damaging Het
Prr14l A G 5: 32,986,748 (GRCm39) S916P possibly damaging Het
Rab34 T A 11: 78,082,028 (GRCm39) probably null Het
Rps7 A G 12: 28,685,593 (GRCm39) S21P possibly damaging Het
Scn9a A T 2: 66,314,240 (GRCm39) L1815Q probably damaging Het
Sesn3 A G 9: 14,232,459 (GRCm39) Y244C probably benign Het
Slc15a2 A G 16: 36,581,973 (GRCm39) F284L probably benign Het
Slc25a44 C T 3: 88,328,218 (GRCm39) G72D probably damaging Het
Slco6d1 A G 1: 98,427,588 (GRCm39) T640A probably benign Het
Sspo A T 6: 48,439,125 (GRCm39) E1591V possibly damaging Het
Tbata C A 10: 61,011,644 (GRCm39) T60K possibly damaging Het
Tbc1d2 T A 4: 46,637,692 (GRCm39) T185S possibly damaging Het
Tlcd4 T A 3: 121,028,708 (GRCm39) I60F possibly damaging Het
Tmem87a A G 2: 120,234,502 (GRCm39) S14P possibly damaging Het
Tnnt2 C A 1: 135,778,292 (GRCm39) probably null Het
Trex1 A G 9: 108,887,709 (GRCm39) V94A probably benign Het
Zc3hav1 A T 6: 38,309,935 (GRCm39) Y296N probably benign Het
Zfp521 T A 18: 13,977,684 (GRCm39) N910Y probably damaging Het
Zfp53 A G 17: 21,728,975 (GRCm39) E336G possibly 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
R5224:Ubtfl1 UTSW 9 18,321,326 (GRCm39) missense probably benign 0.34
R5284:Ubtfl1 UTSW 9 18,320,741 (GRCm39) nonsense probably null
R5965:Ubtfl1 UTSW 9 18,320,838 (GRCm39) missense probably benign 0.04
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'- AGATTCATCAGGCTGTGGAC -3'
(R):5'- AGGCAGTCAAGGGTCTTTTG -3'

Sequencing Primer
(F):5'- CATCAGGCTGTGGACTTAGTCTC -3'
(R):5'- TCGGTCAGGATGCTCCGTG -3'
Posted On 2018-03-15