Incidental Mutation 'R2231:Usb1'
ID 240042
Institutional Source Beutler Lab
Gene Symbol Usb1
Ensembl Gene ENSMUSG00000031792
Gene Name U6 snRNA biogenesis 1
Synonyms AA960436
MMRRC Submission 040232-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.125) question?
Stock # R2231 (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 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: 98.5%
  • 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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr1b G A 1: 36,739,440 (GRCm39) R336W probably damaging Het
Alkbh6 G A 7: 30,012,015 (GRCm39) probably null Het
Ankrd63 A G 2: 118,533,846 (GRCm39) probably benign Het
Arsa T C 15: 89,359,925 (GRCm39) M1V probably null Het
Cblb T A 16: 52,014,635 (GRCm39) S895T probably benign Het
Cdk8 A T 5: 146,168,414 (GRCm39) probably benign Het
Coch G A 12: 51,649,648 (GRCm39) V320I probably benign 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
Dnah5 G A 15: 28,408,563 (GRCm39) probably null Het
Eif2b5 T C 16: 20,323,520 (GRCm39) Y424H probably benign Het
Enoph1 C T 5: 100,188,136 (GRCm39) T20I probably damaging Het
Entpd7 T C 19: 43,710,255 (GRCm39) V304A 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
Kif21a G A 15: 90,869,565 (GRCm39) Q429* probably null Het
L1cam T A X: 72,904,947 (GRCm39) N503I possibly damaging Het
Myl3 T C 9: 110,596,979 (GRCm39) L113P probably damaging Het
Nup153 A G 13: 46,863,103 (GRCm39) probably null Het
Oaz3 T C 3: 94,341,846 (GRCm39) T130A probably benign Het
Or4c3d A T 2: 89,882,569 (GRCm39) F33Y probably benign Het
Or5b12b A G 19: 12,861,313 (GRCm39) I23V probably benign Het
Pacs2 G A 12: 113,026,987 (GRCm39) D605N probably damaging Het
Pdk3 G T X: 92,857,604 (GRCm39) N59K probably damaging Het
Piezo2 A T 18: 63,278,143 (GRCm39) C254S probably damaging Het
Plekhd1 T C 12: 80,768,725 (GRCm39) F403L possibly damaging Het
Pou5f1 A G 17: 35,820,959 (GRCm39) T134A probably benign Het
Ppp3r1 G A 11: 17,143,115 (GRCm39) G68R probably damaging Het
Prr5 T C 15: 84,586,981 (GRCm39) S244P probably benign Het
Sacs A G 14: 61,443,378 (GRCm39) probably null Het
Sbno1 A T 5: 124,543,767 (GRCm39) D257E probably damaging Het
Scn10a T C 9: 119,462,916 (GRCm39) E1040G possibly damaging Het
Sgce T C 6: 4,730,066 (GRCm39) K53E probably benign Het
Slc6a11 A G 6: 114,171,590 (GRCm39) T254A probably damaging Het
Spag1 A G 15: 36,191,313 (GRCm39) Y180C probably benign Het
Ssna1 G T 2: 25,162,019 (GRCm39) N58K possibly damaging Het
Tbx3 C A 5: 119,815,589 (GRCm39) N296K probably damaging Het
Tcerg1 A G 18: 42,657,309 (GRCm39) T264A unknown Het
Trdmt1 A T 2: 13,530,436 (GRCm39) F82I probably damaging Het
Ttn A T 2: 76,774,497 (GRCm39) F2136L probably damaging Het
Usp33 C T 3: 152,079,023 (GRCm39) A425V probably benign Het
Zfp92 G T X: 72,466,358 (GRCm39) L450F possibly damaging Het
Zw10 C T 9: 48,975,421 (GRCm39) T282M possibly 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
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'- AGGCTTCCTGTTGGATACTTCC -3'
(R):5'- GTGGACTTTGGGTAGACACCTC -3'

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