Incidental Mutation 'R7624:Usp16'
ID 589353
Institutional Source Beutler Lab
Gene Symbol Usp16
Ensembl Gene ENSMUSG00000025616
Gene Name ubiquitin specific peptidase 16
Synonyms 2810483I07Rik, 6330514E22Rik, UBP-M, 1200004E02Rik
MMRRC Submission 045689-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7624 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 87251833-87280403 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 87273693 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 423 (M423K)
Ref Sequence ENSEMBL: ENSMUSP00000026710 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026710] [ENSMUST00000119504] [ENSMUST00000144759]
AlphaFold Q99LG0
Predicted Effect probably benign
Transcript: ENSMUST00000026710
AA Change: M423K

PolyPhen 2 Score 0.231 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000026710
Gene: ENSMUSG00000025616
AA Change: M423K

DomainStartEndE-ValueType
Pfam:zf-UBP 48 127 2.5e-23 PFAM
coiled coil region 149 182 N/A INTRINSIC
Pfam:UCH 194 821 2e-54 PFAM
Pfam:UCH_1 195 800 3.8e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000119504
AA Change: M422K

PolyPhen 2 Score 0.349 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000114058
Gene: ENSMUSG00000025616
AA Change: M422K

DomainStartEndE-ValueType
Pfam:zf-UBP 48 127 6.9e-24 PFAM
coiled coil region 149 181 N/A INTRINSIC
Pfam:UCH 193 732 1.2e-36 PFAM
Pfam:UCH_1 194 737 2.5e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000144759
SMART Domains Protein: ENSMUSP00000116323
Gene: ENSMUSG00000025616

DomainStartEndE-ValueType
Pfam:zf-UBP 48 127 2e-24 PFAM
coiled coil region 149 181 N/A INTRINSIC
Pfam:UCH 193 330 2.4e-23 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 99% (69/70)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a deubiquitinating enzyme that is phosphorylated at the onset of mitosis and then dephosphorylated at the metaphase/anaphase transition. It can deubiquitinate H2A, one of two major ubiquitinated proteins of chromatin, in vitro and a mutant form of the protein was shown to block cell division. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit embryonic lethality at E6. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atm C A 9: 53,366,068 (GRCm39) R2533L probably damaging Het
Caprin1 T A 2: 103,603,022 (GRCm39) M514L possibly damaging Het
Ccdc78 A G 17: 26,006,126 (GRCm39) E98G probably damaging Het
Cmya5 A T 13: 93,226,865 (GRCm39) M2741K possibly damaging Het
Cnot1 T G 8: 96,478,447 (GRCm39) R959S probably damaging Het
Col12a1 G T 9: 79,553,076 (GRCm39) probably null Het
Col4a3 A G 1: 82,696,605 (GRCm39) T177A probably benign Het
Cpa3 T C 3: 20,279,307 (GRCm39) N211D possibly damaging Het
Cripto C T 9: 110,775,017 (GRCm39) probably benign Het
Cryba1 T C 11: 77,613,543 (GRCm39) Y36C probably damaging Het
Ctnna1 T A 18: 35,377,897 (GRCm39) I632N probably benign Het
D630045J12Rik T C 6: 38,126,498 (GRCm39) N1504S probably damaging Het
Dgkz C A 2: 91,773,019 (GRCm39) R346L probably damaging Het
Dnajc21 G A 15: 10,461,318 (GRCm39) R211C probably benign Het
Dnajc21 A T 15: 10,461,320 (GRCm39) I210N probably damaging Het
Dscam T C 16: 96,411,524 (GRCm39) D1784G probably damaging Het
Eya3 A G 4: 132,400,262 (GRCm39) T94A probably benign Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Fat3 T C 9: 15,871,165 (GRCm39) D3742G possibly damaging Het
Ficd T C 5: 113,876,751 (GRCm39) F309L probably benign Het
Gfra1 A T 19: 58,226,878 (GRCm39) M451K probably benign Het
Gm43517 T A 12: 49,437,961 (GRCm39) L318Q Het
Gsc A T 12: 104,439,310 (GRCm39) V22E possibly damaging Het
Il4ra T C 7: 125,168,280 (GRCm39) Y100H probably damaging Het
Ilf3 T C 9: 21,309,340 (GRCm39) S486P probably benign Het
Itga10 T A 3: 96,560,269 (GRCm39) H594Q probably benign Het
Kcnf1 T C 12: 17,226,137 (GRCm39) D28G probably benign Het
Kiss1 A G 1: 133,257,160 (GRCm39) K53R possibly damaging Het
Lcn5 A G 2: 25,551,426 (GRCm39) I182V probably benign Het
Lcorl T C 5: 45,859,307 (GRCm39) D269G probably benign Het
Letm2 A T 8: 26,082,553 (GRCm39) C174* probably null Het
Met T G 6: 17,558,834 (GRCm39) V1154G probably damaging Het
Mindy3 A G 2: 12,424,000 (GRCm39) S22P probably benign Het
Mroh2b G A 15: 4,946,613 (GRCm39) R471Q probably damaging Het
Nfe2l3 T C 6: 51,435,252 (GRCm39) L604P probably damaging Het
Or12e10 A G 2: 87,640,683 (GRCm39) Q173R probably damaging Het
Or14a256 A G 7: 86,265,769 (GRCm39) F28S possibly damaging Het
Or5h18 T A 16: 58,847,382 (GRCm39) Q296L possibly damaging Het
Or8b3b C T 9: 38,583,919 (GRCm39) V274I probably benign Het
Or8u9 A T 2: 86,001,564 (GRCm39) I199N possibly damaging Het
Or9r7 A C 10: 129,962,455 (GRCm39) I157S probably damaging Het
Pcdha9 T A 18: 37,132,849 (GRCm39) Y639* probably null Het
Pom121l2 A T 13: 22,167,699 (GRCm39) I657L probably damaging Het
Prr14l T A 5: 32,986,967 (GRCm39) T843S possibly damaging Het
Rln1 A T 19: 29,309,499 (GRCm39) N93K probably damaging Het
Rpl3l A T 17: 24,951,401 (GRCm39) M101L probably benign Het
Rtkn A G 6: 83,129,158 (GRCm39) Y551C probably benign Het
Rundc1 G C 11: 101,324,305 (GRCm39) R337P possibly damaging Het
Scarf1 T A 11: 75,405,242 (GRCm39) probably null Het
Serpinb1b T A 13: 33,275,622 (GRCm39) probably null Het
Sgsm1 A T 5: 113,422,201 (GRCm39) C484* probably null Het
Slc22a19 T A 19: 7,650,668 (GRCm39) K547* probably null Het
Slc22a19 T C 19: 7,671,183 (GRCm39) T177A probably benign Het
Slc6a5 A C 7: 49,591,614 (GRCm39) K526N probably benign Het
Sqle G A 15: 59,202,603 (GRCm39) R519Q probably benign Het
Stard9 T C 2: 120,518,627 (GRCm39) I517T probably benign Het
Taf15 A T 11: 83,395,849 (GRCm39) D518V unknown Het
Tenm4 A G 7: 96,545,192 (GRCm39) M2440V possibly damaging Het
Tm6sf1 A G 7: 81,518,458 (GRCm39) M122V possibly damaging Het
Tmprss9 T A 10: 80,728,053 (GRCm39) S548T possibly damaging Het
Trim62 A T 4: 128,777,471 (GRCm39) probably benign Het
Ugt2b34 C T 5: 87,039,141 (GRCm39) V507M possibly damaging Het
Vmn1r199 T A 13: 22,566,906 (GRCm39) S67T probably benign Het
Vmn1r62 A T 7: 5,678,600 (GRCm39) M94L probably benign Het
Wnk4 G T 11: 101,155,180 (GRCm39) E364* probably null Het
Xpo1 T A 11: 23,232,584 (GRCm39) I368N probably damaging Het
Zfp366 A G 13: 99,382,804 (GRCm39) T656A probably benign Het
Zfp934 T C 13: 62,666,338 (GRCm39) M113V probably benign Het
Zkscan2 A G 7: 123,097,994 (GRCm39) V134A probably damaging Het
Other mutations in Usp16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01322:Usp16 APN 16 87,263,164 (GRCm39) missense possibly damaging 0.95
IGL01589:Usp16 APN 16 87,276,071 (GRCm39) missense probably benign 0.00
IGL02570:Usp16 APN 16 87,277,781 (GRCm39) missense probably damaging 1.00
IGL02736:Usp16 APN 16 87,261,723 (GRCm39) missense possibly damaging 0.75
IGL02973:Usp16 APN 16 87,276,627 (GRCm39) missense probably damaging 1.00
IGL03066:Usp16 APN 16 87,268,721 (GRCm39) missense probably damaging 1.00
PIT1430001:Usp16 UTSW 16 87,270,020 (GRCm39) missense probably damaging 0.99
R0395:Usp16 UTSW 16 87,272,334 (GRCm39) missense probably damaging 1.00
R0619:Usp16 UTSW 16 87,269,052 (GRCm39) missense probably benign 0.02
R1146:Usp16 UTSW 16 87,271,536 (GRCm39) missense possibly damaging 0.93
R1146:Usp16 UTSW 16 87,271,536 (GRCm39) missense possibly damaging 0.93
R1549:Usp16 UTSW 16 87,261,722 (GRCm39) missense probably damaging 1.00
R1557:Usp16 UTSW 16 87,259,030 (GRCm39) critical splice donor site probably null
R1776:Usp16 UTSW 16 87,276,204 (GRCm39) missense probably damaging 0.97
R1818:Usp16 UTSW 16 87,276,020 (GRCm39) nonsense probably null
R1835:Usp16 UTSW 16 87,277,795 (GRCm39) missense probably damaging 1.00
R2022:Usp16 UTSW 16 87,270,014 (GRCm39) missense probably damaging 1.00
R2146:Usp16 UTSW 16 87,270,075 (GRCm39) critical splice donor site probably null
R2432:Usp16 UTSW 16 87,263,246 (GRCm39) critical splice donor site probably null
R3110:Usp16 UTSW 16 87,268,736 (GRCm39) splice site probably null
R3112:Usp16 UTSW 16 87,268,736 (GRCm39) splice site probably null
R3771:Usp16 UTSW 16 87,255,571 (GRCm39) start codon destroyed probably null 1.00
R4353:Usp16 UTSW 16 87,267,242 (GRCm39) missense probably damaging 1.00
R4959:Usp16 UTSW 16 87,277,802 (GRCm39) missense probably damaging 0.99
R4973:Usp16 UTSW 16 87,277,802 (GRCm39) missense probably damaging 0.99
R5276:Usp16 UTSW 16 87,267,339 (GRCm39) critical splice donor site probably null
R5753:Usp16 UTSW 16 87,279,787 (GRCm39) missense probably damaging 0.98
R6230:Usp16 UTSW 16 87,261,686 (GRCm39) missense possibly damaging 0.48
R6267:Usp16 UTSW 16 87,280,079 (GRCm39) missense probably benign 0.00
R6473:Usp16 UTSW 16 87,280,023 (GRCm39) missense probably benign 0.00
R6736:Usp16 UTSW 16 87,267,285 (GRCm39) missense probably damaging 1.00
R7006:Usp16 UTSW 16 87,268,724 (GRCm39) missense probably damaging 1.00
R7012:Usp16 UTSW 16 87,255,632 (GRCm39) critical splice donor site probably null
R7040:Usp16 UTSW 16 87,277,817 (GRCm39) missense probably damaging 1.00
R7136:Usp16 UTSW 16 87,280,059 (GRCm39) missense probably benign
R7295:Usp16 UTSW 16 87,268,977 (GRCm39) missense probably benign 0.44
R7434:Usp16 UTSW 16 87,276,207 (GRCm39) nonsense probably null
R7497:Usp16 UTSW 16 87,263,174 (GRCm39) nonsense probably null
R7571:Usp16 UTSW 16 87,261,723 (GRCm39) missense possibly damaging 0.75
R7576:Usp16 UTSW 16 87,276,188 (GRCm39) missense probably benign 0.34
R7889:Usp16 UTSW 16 87,271,472 (GRCm39) missense probably benign 0.44
R8499:Usp16 UTSW 16 87,271,536 (GRCm39) missense possibly damaging 0.93
R8779:Usp16 UTSW 16 87,276,297 (GRCm39) missense probably benign 0.00
R9182:Usp16 UTSW 16 87,276,542 (GRCm39) missense probably benign 0.00
R9251:Usp16 UTSW 16 87,266,640 (GRCm39) missense probably benign 0.08
R9367:Usp16 UTSW 16 87,261,669 (GRCm39) missense probably benign 0.01
R9707:Usp16 UTSW 16 87,263,235 (GRCm39) missense probably benign
R9746:Usp16 UTSW 16 87,276,120 (GRCm39) missense probably benign 0.00
X0061:Usp16 UTSW 16 87,276,345 (GRCm39) missense probably benign 0.01
X0064:Usp16 UTSW 16 87,268,613 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- CATATTTCCTCACCCTGTGATGA -3'
(R):5'- CACCACTCTGCATGCTAATAAAAGT -3'

Sequencing Primer
(F):5'- TGCCTCCTGAGAATTGACG -3'
(R):5'- GAAGCTCCTGAGTTCGAATTCCAG -3'
Posted On 2019-10-24