Incidental Mutation 'R2230:Usb1'
ID 239991
Institutional Source Beutler Lab
Gene Symbol Usb1
Ensembl Gene ENSMUSG00000031792
Gene Name U6 snRNA biogenesis 1
Synonyms AA960436
MMRRC Submission 040231-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.125) question?
Stock # R2230 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 96058912-96074135 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 96070674 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 200 (L200R)
Ref Sequence ENSEMBL: ENSMUSP00000034245 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034245] [ENSMUST00000126180]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000034245
AA Change: L200R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034245
Gene: ENSMUSG00000031792
AA Change: L200R

DomainStartEndE-ValueType
Pfam:HVSL 45 265 6.3e-70 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000126180
SMART Domains Protein: ENSMUSP00000122529
Gene: ENSMUSG00000031792

DomainStartEndE-ValueType
Pfam:HVSL 1 113 6.4e-36 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145060
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151223
Meta Mutation Damage Score 0.9508 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency 100% (62/62)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with several conserved domains, however, its exact function is not known. Mutations in this gene are associated with poikiloderma with neutropenia (PN), which shows phenotypic overlap with Rothmund-Thomson syndrome (RTS) caused by mutations in the RECQL4 gene. It is believed that this gene product interacts with RECQL4 protein via SMAD4 proteins, explaining the partial clinical overlap between PN and RTS. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2011]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam12 A T 7: 133,521,347 (GRCm39) N280K probably damaging Het
Adgrf4 C T 17: 42,977,789 (GRCm39) R518Q possibly damaging Het
Ankra2 T C 13: 98,407,646 (GRCm39) F199L probably damaging Het
Ankrd63 A G 2: 118,533,846 (GRCm39) probably benign Het
Apoa2 A G 1: 171,053,340 (GRCm39) K53R probably benign Het
Atr A G 9: 95,802,818 (GRCm39) R1827G probably damaging Het
Ccdc61 T C 7: 18,625,032 (GRCm39) E502G probably damaging Het
Ccn2 T A 10: 24,472,371 (GRCm39) M138K possibly damaging Het
Cdon T C 9: 35,403,222 (GRCm39) probably null Het
Cyp2c68 T A 19: 39,687,804 (GRCm39) S398C probably benign Het
Cyp2e1 T C 7: 140,344,827 (GRCm39) S98P probably damaging Het
Dock2 T A 11: 34,244,323 (GRCm39) I1036F probably damaging Het
Entpd7 T C 19: 43,710,255 (GRCm39) V304A probably benign Het
Entrep2 G A 7: 64,408,970 (GRCm39) H475Y probably damaging Het
Ergic3 A G 2: 155,859,736 (GRCm39) T346A probably damaging Het
F2 T C 2: 91,456,102 (GRCm39) D553G probably benign Het
Fam227a T A 15: 79,499,582 (GRCm39) Y591F possibly damaging Het
Gal3st1 T C 11: 3,948,282 (GRCm39) I163T probably benign Het
Gm10650 A G 3: 127,833,412 (GRCm39) noncoding transcript Het
Gm21850 G T 2: 153,900,248 (GRCm39) V202L probably benign Het
Hdc T A 2: 126,435,938 (GRCm39) E644D possibly damaging Het
Hypk G A 2: 121,287,773 (GRCm39) probably null Het
Kif21a G A 15: 90,869,565 (GRCm39) Q429* probably null Het
Mgll G A 6: 88,802,714 (GRCm39) V318M possibly damaging Het
Mrgprb3 T C 7: 48,292,770 (GRCm39) I260M probably benign Het
Musk A T 4: 58,333,672 (GRCm39) I256F possibly damaging Het
Myl3 T C 9: 110,596,979 (GRCm39) L113P probably damaging Het
Myo5c A G 9: 75,180,888 (GRCm39) D759G probably benign Het
Nkx2-1 G A 12: 56,580,071 (GRCm39) Q290* probably null Het
Oaz3 T C 3: 94,341,846 (GRCm39) T130A probably benign Het
Or10j7 A G 1: 173,011,182 (GRCm39) I273T probably benign Het
Or4c3d A T 2: 89,882,569 (GRCm39) F33Y probably benign Het
Or7g16 A G 9: 18,727,021 (GRCm39) S190P probably damaging Het
Or8c13 T C 9: 38,091,442 (GRCm39) T226A probably benign Het
Pabpc2 G A 18: 39,908,123 (GRCm39) V463I probably benign Het
Piezo2 A T 18: 63,278,143 (GRCm39) C254S probably damaging Het
Plxnd1 C A 6: 115,941,105 (GRCm39) R1302L probably damaging Het
Pnpla7 T C 2: 24,941,610 (GRCm39) probably benign Het
Ppl G A 16: 4,906,845 (GRCm39) T1150I possibly damaging Het
Prkag2 G T 5: 25,113,362 (GRCm39) A113E probably benign Het
Proz A G 8: 13,113,356 (GRCm39) Y59C probably damaging Het
Prr5 T C 15: 84,586,981 (GRCm39) S244P probably benign Het
Sec14l5 A G 16: 4,994,345 (GRCm39) T380A probably damaging Het
Snw1 A G 12: 87,499,428 (GRCm39) V391A probably benign Het
Sp2 C T 11: 96,846,762 (GRCm39) C527Y probably damaging Het
Sspo A G 6: 48,425,606 (GRCm39) I76V probably damaging Het
Sspo C A 6: 48,477,437 (GRCm39) Q5123K probably benign Het
Tbc1d21 A C 9: 58,270,363 (GRCm39) N137K probably damaging Het
Tek G A 4: 94,699,573 (GRCm39) C317Y probably damaging Het
Tet3 T C 6: 83,346,453 (GRCm39) D1328G probably damaging Het
Topbp1 T A 9: 103,223,047 (GRCm39) I1377N probably damaging Het
Trmt9b T A 8: 36,979,707 (GRCm39) C437S probably damaging Het
Ttf2 A G 3: 100,865,260 (GRCm39) V544A probably damaging Het
Ttn A T 2: 76,774,497 (GRCm39) F2136L probably damaging Het
Ugt2b38 A G 5: 87,569,527 (GRCm39) F267L probably benign Het
Vwa5a G A 9: 38,645,174 (GRCm39) G420R probably null Het
Vwa8 T C 14: 79,329,843 (GRCm39) probably null Het
Zfp708 A T 13: 67,219,036 (GRCm39) Y229* probably null Het
Zzef1 T A 11: 72,775,242 (GRCm39) M1745K probably damaging Het
Other mutations in Usb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03164:Usb1 APN 8 96,060,112 (GRCm39) missense probably damaging 1.00
R0276:Usb1 UTSW 8 96,060,085 (GRCm39) missense probably damaging 1.00
R0385:Usb1 UTSW 8 96,071,946 (GRCm39) missense probably damaging 1.00
R0730:Usb1 UTSW 8 96,070,669 (GRCm39) missense probably damaging 1.00
R0801:Usb1 UTSW 8 96,060,168 (GRCm39) splice site probably null
R1497:Usb1 UTSW 8 96,065,325 (GRCm39) missense probably benign 0.00
R2231:Usb1 UTSW 8 96,070,674 (GRCm39) missense probably damaging 1.00
R2232:Usb1 UTSW 8 96,070,674 (GRCm39) missense probably damaging 1.00
R2402:Usb1 UTSW 8 96,069,759 (GRCm39) missense probably benign 0.06
R2507:Usb1 UTSW 8 96,069,752 (GRCm39) missense probably damaging 1.00
R3821:Usb1 UTSW 8 96,060,061 (GRCm39) missense probably benign 0.35
R5085:Usb1 UTSW 8 96,070,679 (GRCm39) missense probably damaging 0.98
R5834:Usb1 UTSW 8 96,060,161 (GRCm39) utr 3 prime probably benign
R7398:Usb1 UTSW 8 96,071,931 (GRCm39) missense probably damaging 1.00
R8039:Usb1 UTSW 8 96,060,041 (GRCm39) missense probably damaging 1.00
R8816:Usb1 UTSW 8 96,071,984 (GRCm39) missense probably benign 0.13
R9716:Usb1 UTSW 8 96,070,685 (GRCm39) missense probably damaging 1.00
R9732:Usb1 UTSW 8 96,065,375 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGTTGGATACTTCCTGCACC -3'
(R):5'- ATGGTGGACTTTGGGTAGACAC -3'

Sequencing Primer
(F):5'- GCACCAACCTGTATAGTTTGTG -3'
(R):5'- TGGACTTTGGGTAGACACCTCAAAC -3'
Posted On 2014-10-15