Incidental Mutation 'R5085:Usb1'
ID 387377
Institutional Source Beutler Lab
Gene Symbol Usb1
Ensembl Gene ENSMUSG00000031792
Gene Name U6 snRNA biogenesis 1
Synonyms AA960436
MMRRC Submission 042674-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.125) question?
Stock # R5085 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 96058912-96074135 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 96070679 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 202 (T202A)
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: T202A

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000034245
Gene: ENSMUSG00000031792
AA Change: T202A

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 0.2479 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.4%
Validation Efficiency 92% (69/75)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik A T 16: 4,653,837 (GRCm39) K129* probably null Het
Adamts6 A T 13: 104,443,751 (GRCm39) D162V probably damaging Het
Alms1 C A 6: 85,597,714 (GRCm39) P1316T possibly damaging Het
AU040320 A T 4: 126,722,664 (GRCm39) N394I possibly damaging Het
Cacng8 T C 7: 3,464,096 (GRCm39) L416P possibly damaging Het
Ccdc136 T A 6: 29,419,313 (GRCm39) N944K probably damaging Het
Clcn1 C T 6: 42,290,814 (GRCm39) T896I probably benign Het
Col16a1 A T 4: 129,947,964 (GRCm39) Y228F probably damaging Het
Cyfip1 A G 7: 55,548,083 (GRCm39) D561G probably benign Het
Ddr1 T A 17: 35,993,667 (GRCm39) probably null Het
Dedd2 A T 7: 24,918,411 (GRCm39) L48Q probably damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Dph3b-ps A G 13: 106,683,558 (GRCm39) noncoding transcript Het
Dppa3 T C 6: 122,606,891 (GRCm39) F127S probably damaging Het
Dpy19l4 C T 4: 11,265,943 (GRCm39) probably null Het
Flrt3 T C 2: 140,502,177 (GRCm39) T484A probably damaging Het
Gldc T C 19: 30,128,936 (GRCm39) E179G probably damaging Het
Gm14403 A G 2: 177,200,282 (GRCm39) E76G probably benign Het
Gm6421 G A 13: 117,494,969 (GRCm39) noncoding transcript Het
Grk5 T C 19: 61,065,122 (GRCm39) V262A probably damaging Het
Grp A G 18: 66,013,230 (GRCm39) Q132R probably benign Het
Hap1 A G 11: 100,246,537 (GRCm39) F123L probably damaging Het
Hrc A G 7: 44,986,445 (GRCm39) D532G probably damaging Het
Igsf9b C A 9: 27,228,733 (GRCm39) F164L probably benign Het
Irag1 G T 7: 110,470,700 (GRCm39) L672I probably damaging Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Kansl1 C T 11: 104,315,168 (GRCm39) R290Q probably damaging Het
Kifc2 T A 15: 76,545,496 (GRCm39) L81Q probably damaging Het
Klrc3 T C 6: 129,616,538 (GRCm39) R160G probably damaging Het
Mal A G 2: 127,482,193 (GRCm39) M70T probably benign Het
Mep1a T G 17: 43,789,035 (GRCm39) R580S probably damaging Het
Methig1 A T 15: 100,251,130 (GRCm39) I14F probably damaging Het
Mtf1 T C 4: 124,715,101 (GRCm39) L242P probably damaging Het
Nfkb1 C A 3: 135,309,568 (GRCm39) A509S probably benign Het
Or2h2b-ps1 C G 17: 37,480,858 (GRCm39) S227T probably benign Het
Or2n1b G A 17: 38,460,003 (GRCm39) D175N probably damaging Het
Or5ac24 A T 16: 59,165,449 (GRCm39) I205K probably damaging Het
Or7a36 G T 10: 78,819,928 (GRCm39) M101I probably benign Het
Or8k23 A T 2: 86,186,318 (GRCm39) M136K probably damaging Het
Pabpc2 A T 18: 39,907,635 (GRCm39) N300I probably damaging Het
Peg10 C T 6: 4,755,864 (GRCm39) probably benign Het
Ppp1r3a T A 6: 14,719,603 (GRCm39) D437V probably damaging Het
Prickle1 A G 15: 93,398,783 (GRCm39) S682P probably damaging Het
Prkab2 T C 3: 97,580,308 (GRCm39) probably benign Het
Pus3 T A 9: 35,476,932 (GRCm39) L243Q possibly damaging Het
Relch A G 1: 105,605,905 (GRCm39) S182G probably damaging Het
Rgs19 G A 2: 181,331,336 (GRCm39) T99M possibly damaging Het
Ripk2 A G 4: 16,127,663 (GRCm39) S360P possibly damaging Het
Rock1 A G 18: 10,140,210 (GRCm39) I127T probably damaging Het
Serpinb10 T G 1: 107,469,947 (GRCm39) M143R probably damaging Het
Sipa1l3 G A 7: 29,048,000 (GRCm39) S247F probably damaging Het
Skint6 T A 4: 113,093,465 (GRCm39) Q226L probably damaging Het
Slc6a19 T C 13: 73,839,872 (GRCm39) M137V probably benign Het
Supv3l1 A T 10: 62,271,291 (GRCm39) N415K probably benign Het
Tekt4 A G 17: 25,692,749 (GRCm39) R192G probably damaging Het
Trgv7 A T 13: 19,362,598 (GRCm39) K96* probably null Het
Tshz1 T C 18: 84,032,053 (GRCm39) N785S probably benign Het
Utp18 A T 11: 93,761,363 (GRCm39) D348E possibly damaging Het
Vmn1r42 T G 6: 89,821,598 (GRCm39) I324L probably benign Het
Wnt8a A T 18: 34,678,656 (GRCm39) R157* probably null Het
Ypel1 A G 16: 16,902,472 (GRCm39) probably null Het
Zfp235 A G 7: 23,836,546 (GRCm39) K31E probably damaging Het
Zhx2 G C 15: 57,686,089 (GRCm39) W486S 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
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
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'- AGGCTTCCTGTTGGATACTTCC -3'
(R):5'- TGGACTTTGGGTAGACACCTC -3'

Sequencing Primer
(F):5'- GATACTTCCTGCACCAACCTGTATAG -3'
(R):5'- TTTGGGTAGACACCTCAAACTC -3'
Posted On 2016-06-06