Incidental Mutation 'R5753:Usp16'
ID 444918
Institutional Source Beutler Lab
Gene Symbol Usp16
Ensembl Gene ENSMUSG00000025616
Gene Name ubiquitin specific peptidase 16
Synonyms 2810483I07Rik, 1200004E02Rik, UBP-M, 6330514E22Rik
MMRRC Submission 043358-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5753 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 87454703-87483517 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 87482899 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 746 (Y746N)
Ref Sequence ENSEMBL: ENSMUSP00000026710 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026704] [ENSMUST00000026710] [ENSMUST00000119504] [ENSMUST00000144759] [ENSMUST00000175977] [ENSMUST00000177376]
AlphaFold Q99LG0
Predicted Effect probably benign
Transcript: ENSMUST00000026704
SMART Domains Protein: ENSMUSP00000026704
Gene: ENSMUSG00000025613

DomainStartEndE-ValueType
Pfam:Cpn60_TCP1 39 529 6.7e-156 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000026710
AA Change: Y746N

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000026710
Gene: ENSMUSG00000025616
AA Change: Y746N

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
SMART Domains Protein: ENSMUSP00000114058
Gene: ENSMUSG00000025616

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 noncoding transcript
Transcript: ENSMUST00000135399
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146386
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149656
Predicted Effect probably benign
Transcript: ENSMUST00000175750
SMART Domains Protein: ENSMUSP00000134920
Gene: ENSMUSG00000025613

DomainStartEndE-ValueType
Pfam:Cpn60_TCP1 1 238 1.2e-69 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000175977
SMART Domains Protein: ENSMUSP00000135651
Gene: ENSMUSG00000025613

DomainStartEndE-ValueType
Pfam:Cpn60_TCP1 39 132 4.5e-32 PFAM
Pfam:Cpn60_TCP1 120 470 1.9e-94 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176241
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176589
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177275
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177485
Predicted Effect probably benign
Transcript: ENSMUST00000177376
SMART Domains Protein: ENSMUSP00000135498
Gene: ENSMUSG00000025613

DomainStartEndE-ValueType
PDB:4B2T|Q 1 51 1e-29 PDB
SCOP:d1oela1 26 51 8e-4 SMART
Meta Mutation Damage Score 0.9018 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 96.0%
Validation Efficiency 97% (58/60)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310003L06Rik C T 5: 87,972,515 (GRCm38) T377I probably damaging Het
Abcb1a A G 5: 8,723,160 (GRCm38) D796G probably damaging Het
Actn3 T C 19: 4,864,567 (GRCm38) probably null Het
Ada A T 2: 163,735,398 (GRCm38) S57T probably benign Het
Adamts6 A G 13: 104,347,350 (GRCm38) Y359C probably damaging Het
Adcy1 A T 11: 7,130,300 (GRCm38) I348F probably damaging Het
Ankrd11 T C 8: 122,895,304 (GRCm38) E603G possibly damaging Het
Bcas3 A G 11: 85,822,084 (GRCm38) probably benign Het
Cldn1 C A 16: 26,363,121 (GRCm38) V113L probably benign Het
Dock9 T C 14: 121,634,625 (GRCm38) T540A probably benign Het
Erp27 A G 6: 136,919,877 (GRCm38) F109S probably damaging Het
F13a1 G A 13: 36,898,108 (GRCm38) Q541* probably null Het
Fam124a T C 14: 62,606,539 (GRCm38) S499P probably benign Het
Fgd3 T A 13: 49,274,940 (GRCm38) E486V possibly damaging Het
Flnc T C 6: 29,433,489 (GRCm38) S11P probably benign Het
Gm12508 C A 4: 55,254,787 (GRCm38) noncoding transcript Het
Grk2 C T 19: 4,290,468 (GRCm38) R295H probably damaging Het
Gtf2ird1 A G 5: 134,410,983 (GRCm38) M131T probably damaging Het
Hist1h4d G A 13: 23,581,604 (GRCm38) M1I probably null Het
Itpripl2 A G 7: 118,491,009 (GRCm38) V109A probably damaging Het
Jakmip2 T C 18: 43,559,116 (GRCm38) E585G probably damaging Het
Kbtbd3 A T 9: 4,331,404 (GRCm38) I593F possibly damaging Het
Lgr4 C T 2: 110,002,512 (GRCm38) Q316* probably null Het
Mcf2l T C 8: 12,999,993 (GRCm38) F305S probably damaging Het
Nos1ap T A 1: 170,349,399 (GRCm38) K145M probably damaging Het
Olfr1143 A T 2: 87,803,252 (GRCm38) M288L probably benign Het
Olfr1264 T C 2: 90,021,503 (GRCm38) T188A possibly damaging Het
Olfr1301 T A 2: 111,754,801 (GRCm38) I184K possibly damaging Het
Olfr19 A T 16: 16,673,620 (GRCm38) Y120* probably null Het
Olfr64 A G 7: 103,893,201 (GRCm38) L178P probably damaging Het
Olfr73 G A 2: 88,034,576 (GRCm38) L188F probably damaging Het
Olfr735 T A 14: 50,345,588 (GRCm38) T285S probably damaging Het
Pcdh9 T A 14: 93,888,161 (GRCm38) D191V probably damaging Het
Pde4d T A 13: 109,772,722 (GRCm38) probably benign Het
Phkb C T 8: 85,878,230 (GRCm38) A88V probably damaging Het
Plec A G 15: 76,173,420 (GRCm38) S4128P probably damaging Het
Plekha5 A T 6: 140,537,004 (GRCm38) probably null Het
Rgs13 A C 1: 144,140,740 (GRCm38) N88K probably benign Het
Rho T A 6: 115,935,487 (GRCm38) I104N probably damaging Het
Rnps1 T C 17: 24,418,164 (GRCm38) probably benign Het
Slc10a7 G T 8: 78,525,299 (GRCm38) probably null Het
Slc39a7 C T 17: 34,030,176 (GRCm38) R246K probably damaging Het
Sort1 G C 3: 108,345,774 (GRCm38) G510A probably damaging Het
Spag6l A G 16: 16,766,967 (GRCm38) probably null Het
Sync T A 4: 129,293,386 (GRCm38) Y70* probably null Het
Tex45 A T 8: 3,484,112 (GRCm38) I350L probably benign Het
Timm8a2 T C 14: 122,034,877 (GRCm38) V64A probably benign Het
Tnfrsf11b C A 15: 54,254,059 (GRCm38) V267L possibly damaging Het
Trim30b A G 7: 104,357,337 (GRCm38) V104A possibly damaging Het
Tusc3 T C 8: 39,096,946 (GRCm38) S244P probably damaging Het
Vax1 G T 19: 59,166,382 (GRCm38) H274Q probably benign Het
Vmn2r108 A G 17: 20,462,917 (GRCm38) V675A probably damaging Het
Vmn2r12 A T 5: 109,091,804 (GRCm38) W298R probably damaging Het
Zfp948 A G 17: 21,586,894 (GRCm38) N116S probably damaging Het
Zkscan2 A G 7: 123,480,700 (GRCm38) V678A probably benign Het
Other mutations in Usp16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01322:Usp16 APN 16 87,466,276 (GRCm38) missense possibly damaging 0.95
IGL01589:Usp16 APN 16 87,479,183 (GRCm38) missense probably benign 0.00
IGL02570:Usp16 APN 16 87,480,893 (GRCm38) missense probably damaging 1.00
IGL02736:Usp16 APN 16 87,464,835 (GRCm38) missense possibly damaging 0.75
IGL02973:Usp16 APN 16 87,479,739 (GRCm38) missense probably damaging 1.00
IGL03066:Usp16 APN 16 87,471,833 (GRCm38) missense probably damaging 1.00
PIT1430001:Usp16 UTSW 16 87,473,132 (GRCm38) missense probably damaging 0.99
R0395:Usp16 UTSW 16 87,475,446 (GRCm38) missense probably damaging 1.00
R0619:Usp16 UTSW 16 87,472,164 (GRCm38) missense probably benign 0.02
R1146:Usp16 UTSW 16 87,474,648 (GRCm38) missense possibly damaging 0.93
R1146:Usp16 UTSW 16 87,474,648 (GRCm38) missense possibly damaging 0.93
R1549:Usp16 UTSW 16 87,464,834 (GRCm38) missense probably damaging 1.00
R1557:Usp16 UTSW 16 87,462,142 (GRCm38) critical splice donor site probably null
R1776:Usp16 UTSW 16 87,479,316 (GRCm38) missense probably damaging 0.97
R1818:Usp16 UTSW 16 87,479,132 (GRCm38) nonsense probably null
R1835:Usp16 UTSW 16 87,480,907 (GRCm38) missense probably damaging 1.00
R2022:Usp16 UTSW 16 87,473,126 (GRCm38) missense probably damaging 1.00
R2146:Usp16 UTSW 16 87,473,187 (GRCm38) critical splice donor site probably null
R2432:Usp16 UTSW 16 87,466,358 (GRCm38) critical splice donor site probably null
R3110:Usp16 UTSW 16 87,471,848 (GRCm38) splice site probably null
R3112:Usp16 UTSW 16 87,471,848 (GRCm38) splice site probably null
R3771:Usp16 UTSW 16 87,458,683 (GRCm38) start codon destroyed probably null 1.00
R4353:Usp16 UTSW 16 87,470,354 (GRCm38) missense probably damaging 1.00
R4959:Usp16 UTSW 16 87,480,914 (GRCm38) missense probably damaging 0.99
R4973:Usp16 UTSW 16 87,480,914 (GRCm38) missense probably damaging 0.99
R5276:Usp16 UTSW 16 87,470,451 (GRCm38) critical splice donor site probably null
R6230:Usp16 UTSW 16 87,464,798 (GRCm38) missense possibly damaging 0.48
R6267:Usp16 UTSW 16 87,483,191 (GRCm38) missense probably benign 0.00
R6473:Usp16 UTSW 16 87,483,135 (GRCm38) missense probably benign 0.00
R6736:Usp16 UTSW 16 87,470,397 (GRCm38) missense probably damaging 1.00
R7006:Usp16 UTSW 16 87,471,836 (GRCm38) missense probably damaging 1.00
R7012:Usp16 UTSW 16 87,458,744 (GRCm38) critical splice donor site probably null
R7040:Usp16 UTSW 16 87,480,929 (GRCm38) missense probably damaging 1.00
R7136:Usp16 UTSW 16 87,483,171 (GRCm38) missense probably benign
R7295:Usp16 UTSW 16 87,472,089 (GRCm38) missense probably benign 0.44
R7434:Usp16 UTSW 16 87,479,319 (GRCm38) nonsense probably null
R7497:Usp16 UTSW 16 87,466,286 (GRCm38) nonsense probably null
R7571:Usp16 UTSW 16 87,464,835 (GRCm38) missense possibly damaging 0.75
R7576:Usp16 UTSW 16 87,479,300 (GRCm38) missense probably benign 0.34
R7624:Usp16 UTSW 16 87,476,805 (GRCm38) missense probably benign 0.23
R7889:Usp16 UTSW 16 87,474,584 (GRCm38) missense probably benign 0.44
R8499:Usp16 UTSW 16 87,474,648 (GRCm38) missense possibly damaging 0.93
R8779:Usp16 UTSW 16 87,479,409 (GRCm38) missense probably benign 0.00
R9182:Usp16 UTSW 16 87,479,654 (GRCm38) missense probably benign 0.00
R9251:Usp16 UTSW 16 87,469,752 (GRCm38) missense probably benign 0.08
R9367:Usp16 UTSW 16 87,464,781 (GRCm38) missense probably benign 0.01
R9707:Usp16 UTSW 16 87,466,347 (GRCm38) missense probably benign
R9746:Usp16 UTSW 16 87,479,232 (GRCm38) missense probably benign 0.00
X0061:Usp16 UTSW 16 87,479,457 (GRCm38) missense probably benign 0.01
X0064:Usp16 UTSW 16 87,471,725 (GRCm38) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- GAATTTTCTTGAGGCCTTTAACTGG -3'
(R):5'- GTGAAACCACTGCCCTTTGG -3'

Sequencing Primer
(F):5'- GGTTCATGACCTAGTTTTTGCAC -3'
(R):5'- GATTCCATTTCACAATCTGTCAGG -3'
Posted On 2016-11-21