Incidental Mutation 'R2507:Usb1'
ID 251344
Institutional Source Beutler Lab
Gene Symbol Usb1
Ensembl Gene ENSMUSG00000031792
Gene Name U6 snRNA biogenesis 1
Synonyms AA960436
MMRRC Submission 040413-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.125) question?
Stock # R2507 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 96058912-96074135 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 96069752 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 100 (F100S)
Ref Sequence ENSEMBL: ENSMUSP00000122529 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034245] [ENSMUST00000126180] [ENSMUST00000213059]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000034245
AA Change: F153S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000034245
Gene: ENSMUSG00000031792
AA Change: F153S

DomainStartEndE-ValueType
Pfam:HVSL 45 265 6.3e-70 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000126180
AA Change: F100S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000122529
Gene: ENSMUSG00000031792
AA Change: F100S

DomainStartEndE-ValueType
Pfam:HVSL 1 113 6.4e-36 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145060
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151223
Predicted Effect probably benign
Transcript: ENSMUST00000213059
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.7%
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020N01Rik A G 10: 21,497,681 (GRCm39) probably benign Het
4930535I16Rik G A 4: 123,811,740 (GRCm39) probably benign Het
Akr1b1 C T 6: 34,286,999 (GRCm39) E186K probably damaging Het
Apc A T 18: 34,449,590 (GRCm39) N2128I possibly damaging Het
Api5 T C 2: 94,260,162 (GRCm39) I31M probably damaging Het
Armcx4 T G X: 133,596,128 (GRCm39) V2012G possibly damaging Het
Aurka T C 2: 172,212,365 (GRCm39) E4G probably benign Het
B4galt5 T A 2: 167,148,558 (GRCm39) M187L probably benign Het
Bsn T C 9: 107,993,313 (GRCm39) D813G probably damaging Het
Bub1 A T 2: 127,643,343 (GRCm39) D1000E probably benign Het
Cacna1f T G X: 7,492,687 (GRCm39) probably null Het
Cdh6 A G 15: 13,041,447 (GRCm39) I539T probably benign Het
Cdhr3 T C 12: 33,088,914 (GRCm39) D756G probably benign Het
Cenph A T 13: 100,907,744 (GRCm39) D85E probably benign Het
Chd9 C T 8: 91,760,615 (GRCm39) P2120L probably benign Het
Clec2h A G 6: 128,650,945 (GRCm39) N75S probably benign Het
Cnga1 C T 5: 72,776,404 (GRCm39) V20I possibly damaging Het
Cox4i1 T A 8: 121,400,029 (GRCm39) V51E possibly damaging Het
Cpne3 A T 4: 19,553,871 (GRCm39) N53K probably damaging Het
Cpt1b A G 15: 89,303,301 (GRCm39) F585L probably benign Het
Daam1 G A 12: 72,021,997 (GRCm39) D732N probably damaging Het
Dner A T 1: 84,560,801 (GRCm39) C115S probably damaging Het
Dop1a T A 9: 86,395,170 (GRCm39) F759Y probably damaging Het
Dst T C 1: 34,050,990 (GRCm39) Y29H probably damaging Het
Dst T C 1: 34,227,498 (GRCm39) V1875A possibly damaging Het
Duox1 A G 2: 122,163,619 (GRCm39) D817G probably benign Het
Emc2 A T 15: 43,375,094 (GRCm39) probably null Het
Erich3 A T 3: 154,404,296 (GRCm39) E51V probably null Het
Exoc2 A G 13: 31,066,348 (GRCm39) Y443H possibly damaging Het
Fbf1 T C 11: 116,046,252 (GRCm39) R200G probably benign Het
Fdxr G A 11: 115,162,806 (GRCm39) T100I probably damaging Het
Galnt11 C G 5: 25,452,610 (GRCm39) P41A probably damaging Het
Galnt4 A G 10: 98,945,148 (GRCm39) K291R possibly damaging Het
Gm12695 T A 4: 96,642,426 (GRCm39) E301V probably damaging Het
Gopc C T 10: 52,229,422 (GRCm39) probably null Het
Gria1 A T 11: 57,180,146 (GRCm39) T699S probably null Het
Gsr T G 8: 34,170,316 (GRCm39) D200E probably benign Het
Ikzf2 G A 1: 69,578,447 (GRCm39) A282V probably benign Het
Irak2 T C 6: 113,624,639 (GRCm39) I45T probably damaging Het
Irx1 T C 13: 72,107,939 (GRCm39) K248E probably damaging Het
Kcns3 A C 12: 11,142,087 (GRCm39) V204G possibly damaging Het
Lmo1 C A 7: 108,739,848 (GRCm39) M91I probably damaging Het
Map3k21 A G 8: 126,666,677 (GRCm39) D623G possibly damaging Het
Map4 A G 9: 109,866,551 (GRCm39) probably benign Het
Mark3 T A 12: 111,593,676 (GRCm39) V236E probably damaging Het
Med23 A G 10: 24,786,711 (GRCm39) D939G probably damaging Het
Mrgpra9 A G 7: 46,885,242 (GRCm39) C142R possibly damaging Het
N4bp2 T A 5: 65,947,404 (GRCm39) D11E probably benign Het
Ntng2 T C 2: 29,097,531 (GRCm39) N310S probably damaging Het
Or10ak7 T C 4: 118,791,122 (GRCm39) M308V probably benign Het
Or6b3 A G 1: 92,439,100 (GRCm39) S217P probably damaging Het
Pcolce A G 5: 137,605,313 (GRCm39) V260A possibly damaging Het
Pds5b C A 5: 150,679,893 (GRCm39) T533K possibly damaging Het
Pecr A G 1: 72,301,135 (GRCm39) Y268H probably benign Het
Phax T A 18: 56,719,956 (GRCm39) F299Y probably damaging Het
Phip T C 9: 82,797,392 (GRCm39) H537R possibly damaging Het
Pramel32 T A 4: 88,547,448 (GRCm39) K161N possibly damaging Het
Prpf39 T A 12: 65,104,589 (GRCm39) F551L probably benign Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Ralgapa1 G A 12: 55,764,986 (GRCm39) P889S probably damaging Het
Rpap1 A G 2: 119,610,535 (GRCm39) probably null Het
Rufy3 T C 5: 88,797,757 (GRCm39) S645P probably damaging Het
Samd1 CGAGGAGGAGGAGGAGGAGGA CGAGGAGGAGGAGGAGGA 8: 84,725,625 (GRCm39) probably benign Het
Spata7 G T 12: 98,624,709 (GRCm39) A172S probably benign Het
Stk35 A G 2: 129,643,435 (GRCm39) T140A probably damaging Het
Thop1 T G 10: 80,906,098 (GRCm39) M1R probably null Het
Tlr1 T C 5: 65,082,639 (GRCm39) Y646C probably damaging Het
Tpp2 A G 1: 44,040,609 (GRCm39) Y290C probably benign Het
Tpr A G 1: 150,268,695 (GRCm39) M1V probably null Het
Trim6 T C 7: 103,877,392 (GRCm39) F161L probably damaging Het
Ubash3b T C 9: 41,068,650 (GRCm39) K25E possibly damaging Het
Unc45b G A 11: 82,830,963 (GRCm39) probably null Het
Unc80 A G 1: 66,651,266 (GRCm39) N1537S possibly damaging Het
Vmn1r17 C A 6: 57,338,244 (GRCm39) L40F probably damaging Het
Vmn1r233 A T 17: 21,214,110 (GRCm39) M280K probably benign Het
Zfp37 A T 4: 62,109,493 (GRCm39) C524S probably damaging Het
Zfp426 T C 9: 20,381,727 (GRCm39) K420R probably benign 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
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'- GAGAGATTTAGAGGACTGCTTGC -3'
(R):5'- TGTATTGCCCCTGAAACCCC -3'

Sequencing Primer
(F):5'- TGCTTGCTTGTTCTTGACAAAC -3'
(R):5'- CTCAAGTTCTTCTCCTAGGTAGG -3'
Posted On 2014-12-04