Incidental Mutation 'R7117:Usp1'
ID 551832
Institutional Source Beutler Lab
Gene Symbol Usp1
Ensembl Gene ENSMUSG00000028560
Gene Name ubiquitin specific peptidase 1
Synonyms
MMRRC Submission 045208-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.901) question?
Stock # R7117 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 98812047-98823780 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 98817127 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 106 (K106N)
Ref Sequence ENSEMBL: ENSMUSP00000030289 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030289] [ENSMUST00000091358] [ENSMUST00000125104] [ENSMUST00000169053]
AlphaFold Q8BJQ2
Predicted Effect possibly damaging
Transcript: ENSMUST00000030289
AA Change: K106N

PolyPhen 2 Score 0.593 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000030289
Gene: ENSMUSG00000028560
AA Change: K106N

DomainStartEndE-ValueType
Pfam:UCH 80 616 9.2e-35 PFAM
Pfam:UCH_1 415 618 1.3e-11 PFAM
Pfam:UCH 723 781 3.9e-6 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000091358
AA Change: K106N

PolyPhen 2 Score 0.593 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000088917
Gene: ENSMUSG00000028560
AA Change: K106N

DomainStartEndE-ValueType
Pfam:UCH 80 622 5e-39 PFAM
Pfam:UCH_1 346 613 2.8e-11 PFAM
low complexity region 765 779 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000125104
AA Change: K63N

PolyPhen 2 Score 0.550 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000135496
Gene: ENSMUSG00000028560
AA Change: K63N

DomainStartEndE-ValueType
Pfam:UCH 37 150 4.1e-14 PFAM
Pfam:UCH_1 38 80 1.2e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000169053
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 97% (95/98)
MGI Phenotype FUNCTION: This gene encodes a member of the ubiquitin-specific peptidase family. The encoded protein acts as a catalytic subunit in a heterodimeric deubiquitinating enzyme complex that deubiquitinates Fanconi anemia, complementation group D2, and plays a role in homologous recombination-mediated DNA repair. Disruption of this gene is associated with a Fanconi anemia-like phenotype and genomic instability. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene have been defined on chromosomes 3, 12, and 15. [provided by RefSeq, Aug 2014]
PHENOTYPE: Homozygous null mice have a high rate of postnatal lethality related to cyanosis. Male survivors are infertile while female survivors have reduced fertility. Both sexes have reduced number of gametes, are sensitive to ionizing radiation, and have decreased numbers of bone marrow cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 98 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900026A02Rik T C 5: 113,339,250 (GRCm39) Y254C probably benign Het
4930480E11Rik G T X: 77,414,311 (GRCm39) M345I probably benign Het
Adam12 T C 7: 133,518,191 (GRCm39) I650V probably benign Het
Adam39 G T 8: 41,279,279 (GRCm39) G557C probably damaging Het
Ak5 A G 3: 152,321,493 (GRCm39) probably null Het
Arhgef10l C T 4: 140,291,497 (GRCm39) probably null Het
Arhgef37 C T 18: 61,637,481 (GRCm39) E394K probably benign Het
Baz2b A G 2: 59,742,841 (GRCm39) V13A Het
Bnc1 G T 7: 81,623,109 (GRCm39) A706E possibly damaging Het
Bscl2 G A 19: 8,825,878 (GRCm39) A421T possibly damaging Het
Btn1a1 A C 13: 23,643,415 (GRCm39) W345G possibly damaging Het
C3 A T 17: 57,519,655 (GRCm39) M1199K probably benign Het
Ccdc18 T G 5: 108,296,835 (GRCm39) L213V possibly damaging Het
Cers2 T C 3: 95,228,072 (GRCm39) probably null Het
Chpt1 T A 10: 88,316,711 (GRCm39) H249L probably damaging Het
Cited2 A G 10: 17,600,364 (GRCm39) E224G possibly damaging Het
Cntn5 T A 9: 10,904,704 (GRCm39) probably benign Het
Col28a1 A G 6: 8,013,122 (GRCm39) S977P possibly damaging Het
Col6a1 T C 10: 76,560,843 (GRCm39) K52E probably damaging Het
Cpne2 T A 8: 95,282,172 (GRCm39) H239Q probably damaging Het
Cr2 A T 1: 194,842,909 (GRCm39) N244K possibly damaging Het
Csf2rb2 T C 15: 78,169,385 (GRCm39) D590G probably damaging Het
Defb25 A C 2: 152,464,380 (GRCm39) C55G probably damaging Het
Dnah7b A T 1: 46,391,973 (GRCm39) probably null Het
Dvl3 T A 16: 20,346,072 (GRCm39) Y467* probably null Het
Elapor2 T A 5: 9,495,384 (GRCm39) C729* probably null Het
Extl2 T C 3: 115,821,088 (GRCm39) S312P probably damaging Het
Fam178b T C 1: 36,639,548 (GRCm39) T313A probably benign Het
Fam186b A G 15: 99,183,471 (GRCm39) Y58H probably damaging Het
Fat1 A T 8: 45,484,505 (GRCm39) I3248L probably damaging Het
Fat2 A G 11: 55,172,088 (GRCm39) F2875S probably damaging Het
Flnb T A 14: 7,894,214 (GRCm38) N760K probably benign Het
Galnt14 T C 17: 73,801,190 (GRCm39) H544R probably benign Het
Gpr137c A C 14: 45,516,484 (GRCm39) R357S probably damaging Het
Grk2 A G 19: 4,340,630 (GRCm39) probably null Het
Hectd2 A T 19: 36,577,055 (GRCm39) T342S probably benign Het
Hjv G T 3: 96,435,542 (GRCm39) V267L possibly damaging Het
Ildr2 G T 1: 166,123,380 (GRCm39) G270C probably damaging Het
Insm2 C A 12: 55,647,357 (GRCm39) A367D probably damaging Het
Kcnh5 T A 12: 75,161,219 (GRCm39) I230F possibly damaging Het
Keg1 T A 19: 12,687,042 (GRCm39) S24T probably damaging Het
Kera A T 10: 97,448,714 (GRCm39) E311D probably benign Het
Kit T A 5: 75,767,758 (GRCm39) I47K probably benign Het
Megf6 A G 4: 154,343,379 (GRCm39) T663A possibly damaging Het
Mettl21c G A 1: 44,049,808 (GRCm39) A79V probably damaging Het
Mfsd1 T A 3: 67,507,391 (GRCm39) probably null Het
Mob3b A G 4: 34,985,914 (GRCm39) probably null Het
Morc2b T A 17: 33,356,926 (GRCm39) H282L probably benign Het
Mtpap T C 18: 4,380,889 (GRCm39) probably null Het
Mtus1 A G 8: 41,536,621 (GRCm39) V365A possibly damaging Het
Muc5ac T A 7: 141,367,559 (GRCm39) Y2993* probably null Het
Mycbp2 A C 14: 103,391,513 (GRCm39) F3422V probably benign Het
Ndufb7 T A 8: 84,297,490 (GRCm39) D48E probably benign Het
Nxpe5 A G 5: 138,237,704 (GRCm39) Y88C probably damaging Het
Or51a6 T A 7: 102,604,185 (GRCm39) M208L probably benign Het
Or5d3 A G 2: 88,174,905 (GRCm39) L64P probably damaging Het
Osbpl5 T A 7: 143,263,520 (GRCm39) D121V probably benign Het
Oxnad1 A T 14: 31,813,608 (GRCm39) H3L probably benign Het
Pam C A 1: 97,904,841 (GRCm39) probably benign Het
Papolg T C 11: 23,845,207 (GRCm39) probably benign Het
Pax1 G A 2: 147,208,190 (GRCm39) G266D probably damaging Het
Pde11a A T 2: 75,906,348 (GRCm39) M623K probably damaging Het
Peg3 GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC 7: 6,712,167 (GRCm39) probably benign Het
Phf21a A T 2: 92,189,502 (GRCm39) Q587L probably benign Het
Plcb3 A G 19: 6,941,746 (GRCm39) L336P probably damaging Het
Pnp2 T C 14: 51,201,931 (GRCm39) *306Q probably null Het
Pou5f2 A G 13: 78,173,392 (GRCm39) I111M probably benign Het
Pramel32 T A 4: 88,547,195 (GRCm39) M246L probably damaging Het
Prmt3 G T 7: 49,467,843 (GRCm39) A350S probably benign Het
Rac3 A T 11: 120,614,343 (GRCm39) R163* probably null Het
Raly G T 2: 154,699,432 (GRCm39) V79L probably benign Het
Rbm20 A T 19: 53,839,989 (GRCm39) T993S possibly damaging Het
Rwdd3 A G 3: 120,964,987 (GRCm39) L56P probably benign Het
Serpina3a C T 12: 104,082,436 (GRCm39) H70Y possibly damaging Het
Sez6l2 A C 7: 126,552,915 (GRCm39) E227A possibly damaging Het
Shank1 C T 7: 43,976,585 (GRCm39) A561V unknown Het
Sidt2 C T 9: 45,864,517 (GRCm39) V71I probably benign Het
Slc35f6 T C 5: 30,815,051 (GRCm39) L326P probably damaging Het
Sox2 G A 3: 34,705,075 (GRCm39) G171S possibly damaging Het
Spef2 G A 15: 9,729,924 (GRCm39) R65C probably damaging Het
Spmap2 A T 10: 79,420,741 (GRCm39) probably null Het
Stip1 C T 19: 6,999,178 (GRCm39) G467S possibly damaging Het
Tada2a T A 11: 83,976,514 (GRCm39) I327F probably damaging Het
Tex2 A G 11: 106,435,071 (GRCm39) V785A unknown Het
Thada C A 17: 84,538,214 (GRCm39) probably null Het
Tmed1 G A 9: 21,420,550 (GRCm39) T94M possibly damaging Het
Tsr1 G T 11: 74,790,360 (GRCm39) M149I probably benign Het
Ttc8 T C 12: 98,942,761 (GRCm39) Y434H possibly damaging Het
Ttn A G 2: 76,578,519 (GRCm39) Y24125H probably damaging Het
Ttn G T 2: 76,552,253 (GRCm39) probably null Het
Ttn A G 2: 76,773,235 (GRCm39) I2435T unknown Het
Uggt2 T C 14: 119,251,938 (GRCm39) I1174M probably benign Het
Unc13b T C 4: 43,216,544 (GRCm39) I281T probably benign Het
Vwa3b A G 1: 37,174,634 (GRCm39) D15G Het
Zfp28 G A 7: 6,397,461 (GRCm39) C632Y probably damaging Het
Zfp68 T C 5: 138,604,580 (GRCm39) D581G probably benign Het
Zmynd10 A C 9: 107,424,716 (GRCm39) S21R probably benign Het
Zswim4 C T 8: 84,940,681 (GRCm39) R806H probably damaging Het
Other mutations in Usp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00715:Usp1 APN 4 98,822,818 (GRCm39) splice site probably null
IGL02692:Usp1 APN 4 98,817,197 (GRCm39) missense probably benign 0.00
R1782:Usp1 UTSW 4 98,822,435 (GRCm39) missense probably damaging 1.00
R1991:Usp1 UTSW 4 98,822,531 (GRCm39) missense probably benign 0.00
R1992:Usp1 UTSW 4 98,822,531 (GRCm39) missense probably benign 0.00
R2273:Usp1 UTSW 4 98,818,079 (GRCm39) missense probably damaging 1.00
R2274:Usp1 UTSW 4 98,818,079 (GRCm39) missense probably damaging 1.00
R2275:Usp1 UTSW 4 98,818,079 (GRCm39) missense probably damaging 1.00
R3750:Usp1 UTSW 4 98,822,357 (GRCm39) splice site probably null
R3886:Usp1 UTSW 4 98,817,973 (GRCm39) missense probably damaging 1.00
R4014:Usp1 UTSW 4 98,822,939 (GRCm39) missense probably damaging 1.00
R5141:Usp1 UTSW 4 98,822,446 (GRCm39) missense probably damaging 1.00
R5304:Usp1 UTSW 4 98,822,855 (GRCm39) missense probably benign
R5388:Usp1 UTSW 4 98,819,294 (GRCm39) missense probably benign
R5709:Usp1 UTSW 4 98,819,360 (GRCm39) missense probably damaging 0.99
R6035:Usp1 UTSW 4 98,818,082 (GRCm39) missense probably damaging 1.00
R6035:Usp1 UTSW 4 98,818,082 (GRCm39) missense probably damaging 1.00
R6592:Usp1 UTSW 4 98,814,756 (GRCm39) missense possibly damaging 0.86
R6956:Usp1 UTSW 4 98,819,243 (GRCm39) missense probably damaging 0.96
R7396:Usp1 UTSW 4 98,814,688 (GRCm39) intron probably benign
R7516:Usp1 UTSW 4 98,822,356 (GRCm39) missense probably damaging 1.00
R7590:Usp1 UTSW 4 98,822,489 (GRCm39) missense possibly damaging 0.67
R7828:Usp1 UTSW 4 98,820,544 (GRCm39) missense probably damaging 1.00
R8050:Usp1 UTSW 4 98,817,150 (GRCm39) missense probably benign 0.10
R8085:Usp1 UTSW 4 98,816,578 (GRCm39) missense probably damaging 1.00
R8298:Usp1 UTSW 4 98,819,136 (GRCm39) missense probably damaging 1.00
R8736:Usp1 UTSW 4 98,821,105 (GRCm39) missense probably damaging 1.00
R8801:Usp1 UTSW 4 98,822,848 (GRCm39) missense probably benign
R8844:Usp1 UTSW 4 98,823,017 (GRCm39) missense probably damaging 1.00
R8887:Usp1 UTSW 4 98,819,185 (GRCm39) missense probably benign 0.43
R8899:Usp1 UTSW 4 98,819,347 (GRCm39) missense probably damaging 1.00
R9063:Usp1 UTSW 4 98,819,389 (GRCm39) missense probably benign 0.00
R9275:Usp1 UTSW 4 98,819,578 (GRCm39) missense probably damaging 0.98
R9738:Usp1 UTSW 4 98,819,672 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- GCTAAGTGCTGCTGAGGATC -3'
(R):5'- TGTTCTGAACTCTCCTGAGAATC -3'

Sequencing Primer
(F):5'- CTGAGGATCAGTGGTTACTCTTG -3'
(R):5'- ATGTGTAGCCCATCTAGCCAG -3'
Posted On 2019-05-15