Incidental Mutation 'R0385:Usb1'
ID 31229
Institutional Source Beutler Lab
Gene Symbol Usb1
Ensembl Gene ENSMUSG00000031792
Gene Name U6 snRNA biogenesis 1
Synonyms AA960436
MMRRC Submission 038591-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.125) question?
Stock # R0385 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 96058912-96074135 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 96071946 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Cysteine at position 215 (W215C)
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: W215C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034245
Gene: ENSMUSG00000031792
AA Change: W215C

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 92.0%
Validation Efficiency
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca A G 11: 84,122,574 (GRCm39) N331S probably benign Het
Adk A G 14: 21,368,142 (GRCm39) N189S probably benign Het
Apc T A 18: 34,448,997 (GRCm39) N1930K probably damaging Het
Arhgap28 T C 17: 68,171,601 (GRCm39) D391G probably damaging Het
Atn1 G T 6: 124,720,334 (GRCm39) probably benign Het
C2cd5 T C 6: 142,987,216 (GRCm39) E471G probably damaging Het
Camta1 C A 4: 151,159,597 (GRCm39) R1614L probably damaging Het
Cap2 T C 13: 46,714,023 (GRCm39) L34P probably damaging Het
Cdc42ep2 T A 19: 5,968,553 (GRCm39) M51L probably benign Het
Cntn5 C T 9: 9,972,875 (GRCm39) A254T probably damaging Het
Dicer1 A T 12: 104,670,433 (GRCm39) L1044H probably damaging Het
Dkk3 A C 7: 111,757,430 (GRCm39) M58R probably damaging Het
Dpy19l3 G A 7: 35,452,130 (GRCm39) R5W probably damaging Het
Dsg1c C T 18: 20,416,711 (GRCm39) P871S probably damaging Het
Dusp1 A T 17: 26,726,670 (GRCm39) S131T probably benign Het
Enpp2 C T 15: 54,745,555 (GRCm39) G314R probably damaging Het
Entr1 T C 2: 26,277,671 (GRCm39) E41G possibly damaging Het
Fam222b C A 11: 78,045,756 (GRCm39) P439Q probably benign Het
Fastkd2 A T 1: 63,776,970 (GRCm39) I369F probably benign Het
Fdps G A 3: 89,002,201 (GRCm39) S205F probably damaging Het
Fmo1 A T 1: 162,663,773 (GRCm39) V252E possibly damaging Het
Frmd5 A G 2: 121,386,055 (GRCm39) Y230H probably damaging Het
Gal C T 19: 3,461,171 (GRCm39) V88I probably benign Het
Gnptab T C 10: 88,272,387 (GRCm39) I1009T probably damaging Het
Idh2 C T 7: 79,748,005 (GRCm39) A232T probably damaging Het
Klhdc7a A T 4: 139,694,016 (GRCm39) D310E probably benign Het
Klk4 T C 7: 43,533,432 (GRCm39) M97T probably benign Het
Krt82 C T 15: 101,454,028 (GRCm39) V227M probably damaging Het
Lpp T C 16: 24,580,587 (GRCm39) V226A probably damaging Het
Mbd1 AGCTGACTCGGTAC A 18: 74,406,312 (GRCm39) probably null Het
Mcm10 T C 2: 5,008,965 (GRCm39) K335E possibly damaging Het
Mpv17l A T 16: 13,758,863 (GRCm39) I96L probably benign Het
Muc6 G A 7: 141,218,313 (GRCm39) S2120F possibly damaging Het
Myb T C 10: 21,030,611 (GRCm39) D62G possibly damaging Het
Nasp A T 4: 116,467,892 (GRCm39) N364K probably benign Het
Npsr1 A G 9: 24,224,573 (GRCm39) N317D probably damaging Het
Nup210 A G 6: 91,005,777 (GRCm39) V619A possibly damaging Het
Oser1 C T 2: 163,253,316 (GRCm39) probably null Het
Pcdhb4 T C 18: 37,442,268 (GRCm39) F526S probably damaging Het
Plekhh3 T C 11: 101,055,967 (GRCm39) N444S probably damaging Het
Pnpla5 G T 15: 84,004,920 (GRCm39) L144M probably damaging Het
Pou2f2 G A 7: 24,815,501 (GRCm39) Q89* probably null Het
Ptprb A G 10: 116,186,083 (GRCm39) I1713V probably benign Het
Ptprd A G 4: 76,046,902 (GRCm39) Y442H probably damaging Het
Rad21 A T 15: 51,837,259 (GRCm39) I152N possibly damaging Het
Ralgapa1 A G 12: 55,723,823 (GRCm39) S1568P probably damaging Het
Rhag T A 17: 41,145,618 (GRCm39) V357E probably damaging Het
Rnf121 A T 7: 101,678,324 (GRCm39) D174E possibly damaging Het
Sf3b4 T C 3: 96,080,298 (GRCm39) Y16H probably damaging Het
Slc1a3 C T 15: 8,668,619 (GRCm39) V449I probably damaging Het
Slc20a2 A G 8: 23,058,409 (GRCm39) I648M probably benign Het
Slc25a25 T A 2: 32,307,834 (GRCm39) I254F probably damaging Het
Slit3 A G 11: 35,591,109 (GRCm39) H1307R probably damaging Het
Sorl1 C A 9: 41,943,205 (GRCm39) M890I probably damaging Het
Supt16 A C 14: 52,414,175 (GRCm39) M468R probably benign Het
Taf4b T C 18: 14,916,817 (GRCm39) S56P probably benign Het
Tapt1 T C 5: 44,375,443 (GRCm39) probably null Het
Tmco3 T G 8: 13,346,027 (GRCm39) C288W probably damaging Het
Tpcn2 A G 7: 144,830,911 (GRCm39) Y145H probably damaging Het
Ttn C T 2: 76,712,061 (GRCm39) probably benign Het
Usp2 C G 9: 44,004,047 (GRCm39) T305R probably damaging Het
Vmn1r13 G A 6: 57,187,690 (GRCm39) S283N probably benign Het
Vps54 A G 11: 21,256,381 (GRCm39) K467E possibly damaging Het
Wnk2 G T 13: 49,221,604 (GRCm39) S1121Y probably damaging Het
Zbed6 A T 1: 133,584,522 (GRCm39) D938E 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
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
R2230:Usb1 UTSW 8 96,070,674 (GRCm39) missense probably damaging 1.00
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'- AGTGCCCTCATGAACCGTCAAATAC -3'
(R):5'- TCTCCTCACAGGACAGGGTTGTAAG -3'

Sequencing Primer
(F):5'- AGAGGCACCAGCTATTATGTCTG -3'
(R):5'- gcacacggagccatagag -3'
Posted On 2013-04-24