Incidental Mutation 'R1497:Usb1'
ID 168961
Institutional Source Beutler Lab
Gene Symbol Usb1
Ensembl Gene ENSMUSG00000031792
Gene Name U6 snRNA biogenesis 1
Synonyms AA960436
MMRRC Submission 039548-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.125) question?
Stock # R1497 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 96058912-96074135 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 96065325 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 59 (V59A)
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 benign
Transcript: ENSMUST00000034245
AA Change: V112A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000034245
Gene: ENSMUSG00000031792
AA Change: V112A

DomainStartEndE-ValueType
Pfam:HVSL 45 265 6.3e-70 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000126180
AA Change: V59A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000122529
Gene: ENSMUSG00000031792
AA Change: V59A

DomainStartEndE-ValueType
Pfam:HVSL 1 113 6.4e-36 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145060
Predicted Effect probably benign
Transcript: ENSMUST00000213059
Meta Mutation Damage Score 0.0747 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 94.4%
Validation Efficiency 99% (79/80)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b G T 11: 109,864,647 (GRCm39) probably benign Het
Abhd17a A G 10: 80,420,164 (GRCm39) probably benign Het
Acacb G A 5: 114,334,868 (GRCm39) E646K probably damaging Het
Afap1l2 T C 19: 56,916,743 (GRCm39) M262V probably benign Het
Anapc7 T A 5: 122,573,578 (GRCm39) probably benign Het
Car5b T A X: 162,771,400 (GRCm39) K188N probably benign Het
Caskin1 C T 17: 24,723,515 (GRCm39) R768* probably null Het
Casp8ap2 T C 4: 32,639,938 (GRCm39) S331P probably benign Het
Ccdc68 C T 18: 70,093,585 (GRCm39) probably benign Het
Cd44 A T 2: 102,673,300 (GRCm39) probably null Het
Celsr3 A G 9: 108,726,064 (GRCm39) S3090G probably benign Het
Clasp1 A T 1: 118,479,788 (GRCm39) M1023L probably benign Het
Clec16a T C 16: 10,453,123 (GRCm39) F608S probably damaging Het
Col7a1 A C 9: 108,807,893 (GRCm39) E2531A unknown Het
Ctc1 T A 11: 68,913,387 (GRCm39) C128S probably benign Het
Cyp2d41-ps T C 15: 82,666,223 (GRCm39) noncoding transcript Het
Cyp2j6 T A 4: 96,419,898 (GRCm39) I278F probably damaging Het
Dhtkd1 A T 2: 5,908,924 (GRCm39) S723R probably damaging Het
Dhx8 A G 11: 101,626,213 (GRCm39) probably benign Het
Dnah17 A T 11: 118,005,059 (GRCm39) L775Q probably damaging Het
Dnah8 C A 17: 30,971,049 (GRCm39) T2701K probably damaging Het
Eml3 T A 19: 8,913,733 (GRCm39) S424R probably damaging Het
Epm2aip1 A G 9: 111,101,315 (GRCm39) E96G possibly damaging Het
Ezr T C 17: 7,010,107 (GRCm39) H314R probably benign Het
Fam193b G T 13: 55,702,247 (GRCm39) H43Q probably damaging Het
Fam217a T A 13: 35,095,195 (GRCm39) N340I probably damaging Het
Fcrl1 A T 3: 87,292,109 (GRCm39) Q89H probably damaging Het
Flg2 A T 3: 93,127,076 (GRCm39) H1996L unknown Het
Gabpb1 C T 2: 126,481,169 (GRCm39) V327M possibly damaging Het
Gtf3c3 A G 1: 54,477,098 (GRCm39) V36A probably benign Het
Hspg2 A G 4: 137,275,407 (GRCm39) N2739S probably damaging Het
Hyal1 A G 9: 107,455,194 (GRCm39) probably null Het
Ipo13 T C 4: 117,761,856 (GRCm39) D448G probably benign Het
Kcnq5 T C 1: 21,472,610 (GRCm39) D860G possibly damaging Het
Kif13b A G 14: 64,973,715 (GRCm39) N355S probably damaging Het
Kmt2c T A 5: 25,519,513 (GRCm39) H2199L possibly damaging Het
Magi1 A G 6: 93,724,310 (GRCm39) F235S probably damaging Het
Maml1 A C 11: 50,156,534 (GRCm39) M547R possibly damaging Het
Mapk7 T C 11: 61,384,689 (GRCm39) K6E possibly damaging Het
Mbd5 T A 2: 49,147,393 (GRCm39) N534K possibly damaging Het
Mcat G A 15: 83,433,453 (GRCm39) Q34* probably null Het
Mcu T A 10: 59,284,670 (GRCm39) D180V probably damaging Het
Mettl21c G T 1: 44,048,951 (GRCm39) P199T probably benign Het
Mndal A T 1: 173,700,441 (GRCm39) S177T probably benign Het
Mpeg1 G T 19: 12,438,611 (GRCm39) C23F probably benign Het
Mup15 T A 4: 61,356,471 (GRCm39) Y98F probably benign Het
Myh8 T C 11: 67,180,638 (GRCm39) S625P probably benign Het
Nipsnap2 T C 5: 129,830,282 (GRCm39) probably benign Het
Nlrp4e T C 7: 23,019,797 (GRCm39) S95P probably benign Het
Or1e19 T A 11: 73,316,653 (GRCm39) D52V possibly damaging Het
Or4a66 T C 2: 88,531,106 (GRCm39) D189G probably damaging Het
Otop2 A G 11: 115,220,675 (GRCm39) probably null Het
Pcnx4 G C 12: 72,621,174 (GRCm39) G998A probably benign Het
Pnkd C A 1: 74,390,681 (GRCm39) probably null Het
Ppp4r4 T A 12: 103,573,204 (GRCm39) V701E probably benign Het
Ryr2 A G 13: 11,616,727 (GRCm39) I3897T probably damaging Het
Scn1a T C 2: 66,162,631 (GRCm39) E205G probably damaging Het
Sdk2 G A 11: 113,784,401 (GRCm39) probably benign Het
Serpinb5 A T 1: 106,803,782 (GRCm39) Q156L probably benign Het
Setdb1 A T 3: 95,234,778 (GRCm39) V975D probably benign Het
Shc1 A G 3: 89,335,752 (GRCm39) *470W probably null Het
Sik3 T A 9: 46,113,320 (GRCm39) V587E probably damaging Het
Sik3 C A 9: 46,132,387 (GRCm39) H1276Q probably benign Het
Spata7 T C 12: 98,635,120 (GRCm39) I384T probably damaging Het
Tanc2 T A 11: 105,812,963 (GRCm39) V1469D probably benign Het
Tasor2 T C 13: 3,620,409 (GRCm39) E2164G probably damaging Het
Tdrd5 A T 1: 156,083,372 (GRCm39) N888K probably benign Het
Tex22 T C 12: 113,039,000 (GRCm39) S34P probably benign Het
Tmed6 T C 8: 107,790,754 (GRCm39) T98A probably benign Het
Trim66 G A 7: 109,083,826 (GRCm39) P141L probably benign Het
Trpa1 T C 1: 14,956,036 (GRCm39) I778V probably benign Het
Urb2 T A 8: 124,754,816 (GRCm39) H174Q probably damaging Het
Vmn1r11 T A 6: 57,114,394 (GRCm39) N19K probably damaging Het
Vmn1r185 A T 7: 26,311,219 (GRCm39) F95L probably benign Het
Vmn1r206 C T 13: 22,805,160 (GRCm39) V16M probably benign Het
Vmn2r92 T C 17: 18,387,625 (GRCm39) V210A probably benign Het
Wdr17 A T 8: 55,125,536 (GRCm39) I448K possibly damaging Het
Zfp768 T A 7: 126,942,733 (GRCm39) Q465L probably damaging Het
Zfp804b T A 5: 6,821,105 (GRCm39) N617Y 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
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'- ACATAGGCTACTCCTGGAAGCAGGC -3'
(R):5'- TCACCCTGGATGGGCAGCACAG -3'

Sequencing Primer
(F):5'- CTCCTGGAAGCAGGCTGTAAG -3'
(R):5'- TGCTTGCTGGGCACCAC -3'
Posted On 2014-04-13