Incidental Mutation 'IGL01322:Usp16'
ID74094
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Usp16
Ensembl Gene ENSMUSG00000025616
Gene Nameubiquitin specific peptidase 16
Synonyms2810483I07Rik, 1200004E02Rik, UBP-M, 6330514E22Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01322
Quality Score
Status
Chromosome16
Chromosomal Location87454703-87483517 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 87466276 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 122 (V122A)
Ref Sequence ENSEMBL: ENSMUSP00000116323 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026710] [ENSMUST00000119504] [ENSMUST00000131356] [ENSMUST00000144759]
Predicted Effect possibly damaging
Transcript: ENSMUST00000026710
AA Change: V122A

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000026710
Gene: ENSMUSG00000025616
AA Change: V122A

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 possibly damaging
Transcript: ENSMUST00000119504
AA Change: V122A

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000114058
Gene: ENSMUSG00000025616
AA Change: V122A

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: ENSMUST00000131206
Predicted Effect probably benign
Transcript: ENSMUST00000131356
Predicted Effect possibly damaging
Transcript: ENSMUST00000144759
AA Change: V122A

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000116323
Gene: ENSMUSG00000025616
AA Change: V122A

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: ENSMUST00000144886
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177538
Coding Region Coverage
Validation Efficiency
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 T A 7: 120,439,199 L368Q probably damaging Het
Abca2 T A 2: 25,446,782 probably null Het
Ano7 T A 1: 93,395,508 V497D probably benign Het
B4gat1 T C 19: 5,040,009 Y345H probably damaging Het
Bckdha T A 7: 25,658,707 R12W possibly damaging Het
Bcl7c T A 7: 127,707,436 N93Y probably damaging Het
Cc2d2a C A 5: 43,689,003 T368K probably benign Het
Chek1 G A 9: 36,718,421 Q210* probably null Het
Chrdl2 A G 7: 100,017,041 Y56C probably damaging Het
Cspg4 T A 9: 56,898,588 F2228I probably damaging Het
Dnah7a T C 1: 53,434,046 M3474V probably benign Het
Dph7 T C 2: 24,965,617 S143P possibly damaging Het
Ehbp1 T A 11: 22,089,636 K821N probably damaging Het
Eomes T C 9: 118,484,830 S648P probably benign Het
Fam20a A G 11: 109,682,912 V215A probably damaging Het
Fer1l4 T A 2: 156,020,339 probably null Het
Frem2 A G 3: 53,541,038 V2319A probably benign Het
Gtf3c4 T C 2: 28,833,572 D575G probably benign Het
Ifit1bl2 A G 19: 34,619,004 V404A probably benign Het
Kcnf1 T C 12: 17,175,348 M291V probably benign Het
Klra1 T A 6: 130,364,261 I250F probably benign Het
Klra4 T A 6: 130,062,022 T136S probably benign Het
Mcrs1 A T 15: 99,243,385 I399N probably damaging Het
Neo1 T C 9: 58,907,085 E866G possibly damaging Het
Notch3 T C 17: 32,144,471 D1206G probably damaging Het
Olfr1427 A C 19: 12,099,405 V78G probably benign Het
Olfr1443 A C 19: 12,680,749 I214L probably benign Het
Olfr290 T A 7: 84,916,382 V201E probably damaging Het
Olfr299 T A 7: 86,466,272 I287N probably damaging Het
Olfr479 A G 7: 108,054,981 probably benign Het
Olfr800 A G 10: 129,660,126 T107A probably benign Het
Pnkd A G 1: 74,351,557 N336D probably damaging Het
Prag1 T C 8: 36,103,934 V557A probably benign Het
Ptgfr A C 3: 151,835,686 S62A probably benign Het
Smc2 A G 4: 52,450,842 Y220C probably damaging Het
Sufu G A 19: 46,450,943 E246K probably damaging Het
Sult2a1 T A 7: 13,832,679 R124* probably null Het
Sult4a1 T A 15: 84,086,616 Y196F possibly damaging Het
Trim15 G A 17: 36,865,083 R191W probably damaging Het
Ttn A G 2: 76,942,975 V2361A possibly damaging Het
Vmn1r122 T A 7: 21,134,111 K6N probably benign Het
Vmn1r34 G A 6: 66,636,915 Q280* probably null Het
Vmn2r45 T A 7: 8,481,333 H491L possibly damaging Het
Wdpcp T C 11: 21,711,949 L407P probably damaging Het
Zfp157 T C 5: 138,447,578 I65T probably benign Het
Other mutations in Usp16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01589:Usp16 APN 16 87479183 missense probably benign 0.00
IGL02570:Usp16 APN 16 87480893 missense probably damaging 1.00
IGL02736:Usp16 APN 16 87464835 missense possibly damaging 0.75
IGL02973:Usp16 APN 16 87479739 missense probably damaging 1.00
IGL03066:Usp16 APN 16 87471833 missense probably damaging 1.00
PIT1430001:Usp16 UTSW 16 87473132 missense probably damaging 0.99
R0395:Usp16 UTSW 16 87475446 missense probably damaging 1.00
R0619:Usp16 UTSW 16 87472164 missense probably benign 0.02
R1146:Usp16 UTSW 16 87474648 missense possibly damaging 0.93
R1146:Usp16 UTSW 16 87474648 missense possibly damaging 0.93
R1549:Usp16 UTSW 16 87464834 missense probably damaging 1.00
R1557:Usp16 UTSW 16 87462142 critical splice donor site probably null
R1776:Usp16 UTSW 16 87479316 missense probably damaging 0.97
R1818:Usp16 UTSW 16 87479132 nonsense probably null
R1835:Usp16 UTSW 16 87480907 missense probably damaging 1.00
R2022:Usp16 UTSW 16 87473126 missense probably damaging 1.00
R2146:Usp16 UTSW 16 87473187 critical splice donor site probably null
R2432:Usp16 UTSW 16 87466358 critical splice donor site probably null
R3110:Usp16 UTSW 16 87471848 splice site probably null
R3112:Usp16 UTSW 16 87471848 splice site probably null
R3771:Usp16 UTSW 16 87458683 start codon destroyed probably null 1.00
R4353:Usp16 UTSW 16 87470354 missense probably damaging 1.00
R4959:Usp16 UTSW 16 87480914 missense probably damaging 0.99
R4973:Usp16 UTSW 16 87480914 missense probably damaging 0.99
R5276:Usp16 UTSW 16 87470451 critical splice donor site probably null
R5753:Usp16 UTSW 16 87482899 missense probably damaging 0.98
R6230:Usp16 UTSW 16 87464798 missense possibly damaging 0.48
R6267:Usp16 UTSW 16 87483191 missense probably benign 0.00
R6473:Usp16 UTSW 16 87483135 missense probably benign 0.00
R6736:Usp16 UTSW 16 87470397 missense probably damaging 1.00
R7006:Usp16 UTSW 16 87471836 missense probably damaging 1.00
R7012:Usp16 UTSW 16 87458744 critical splice donor site probably null
R7040:Usp16 UTSW 16 87480929 missense probably damaging 1.00
R7136:Usp16 UTSW 16 87483171 missense probably benign
R7295:Usp16 UTSW 16 87472089 missense probably benign 0.44
R7434:Usp16 UTSW 16 87479319 nonsense probably null
R7497:Usp16 UTSW 16 87466286 nonsense probably null
R7571:Usp16 UTSW 16 87464835 missense possibly damaging 0.75
R7576:Usp16 UTSW 16 87479300 missense probably benign 0.34
R7624:Usp16 UTSW 16 87476805 missense probably benign 0.23
R7889:Usp16 UTSW 16 87474584 missense probably benign 0.44
X0061:Usp16 UTSW 16 87479457 missense probably benign 0.01
X0064:Usp16 UTSW 16 87471725 missense probably damaging 0.97
Posted On2013-10-07