Incidental Mutation 'IGL02021:Usp22'
ID183979
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Usp22
Ensembl Gene ENSMUSG00000042506
Gene Nameubiquitin specific peptidase 22
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02021
Quality Score
Status
Chromosome11
Chromosomal Location61151785-61175055 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 61154499 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 517 (Y517F)
Ref Sequence ENSEMBL: ENSMUSP00000041263 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041683]
Predicted Effect probably damaging
Transcript: ENSMUST00000041683
AA Change: Y517F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000041263
Gene: ENSMUSG00000042506
AA Change: Y517F

DomainStartEndE-ValueType
Pfam:zf-UBP 63 124 5.5e-16 PFAM
Pfam:UCH 175 517 5.5e-60 PFAM
Pfam:UCH_1 176 501 2.8e-28 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173525
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174035
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele exhibit embryonic lethality, embryonic growth retardation, and increased apoptosis in mouse embryonic fibroblasts. Homozygotes for a hypomorphic allele are viable but show postnatal growth retardation, and impaired cell differentiation in the small intestine and brain. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002L01Rik G A 12: 3,407,890 probably benign Het
Adam10 C T 9: 70,743,909 T72I possibly damaging Het
Adam26b T A 8: 43,519,872 M698L probably benign Het
Ankrd27 A T 7: 35,614,456 H404L probably damaging Het
Atp1a1 T C 3: 101,594,208 S60G probably benign Het
Bcat1 T C 6: 145,047,289 probably benign Het
Cd177 G A 7: 24,745,206 A650V probably benign Het
Cmya5 T C 13: 93,094,549 N1344D probably benign Het
Ctsd G T 7: 142,385,476 L71I probably damaging Het
Dctn2 T C 10: 127,275,057 probably null Het
Ddr1 G A 17: 35,683,480 A801V probably damaging Het
Duoxa1 A G 2: 122,304,646 F251S probably benign Het
Fcho1 A C 8: 71,721,275 S2A probably benign Het
Gm4861 T C 3: 137,552,110 probably null Het
Gm4922 C A 10: 18,784,477 G166W probably damaging Het
Hic2 A G 16: 17,258,753 E482G probably benign Het
Hoxa5 C T 6: 52,202,657 R246K probably damaging Het
Ipo11 A T 13: 106,857,237 F721I probably damaging Het
Lama1 A T 17: 67,821,626 S2993C probably damaging Het
Lonp2 T A 8: 86,708,971 S612T probably benign Het
Lpar5 T G 6: 125,081,992 Y225* probably null Het
Map4k3 A G 17: 80,609,826 Y574H probably damaging Het
Msantd4 A G 9: 4,385,163 E296G probably damaging Het
Ncs1 A G 2: 31,284,165 D109G probably damaging Het
Nnt T C 13: 119,336,247 probably benign Het
Nr1h5 T C 3: 102,947,742 probably benign Het
Olfr1288 A G 2: 111,479,480 D232G probably benign Het
Olfr704 A T 7: 106,865,489 K170* probably null Het
Plk4 A G 3: 40,810,708 D595G probably damaging Het
Rbm17 C A 2: 11,595,438 probably benign Het
Slc24a3 T A 2: 145,518,916 I193N probably damaging Het
St5 T C 7: 109,557,372 Y57C probably damaging Het
Stat5a G T 11: 100,883,889 V759F probably damaging Het
Tgfbi T A 13: 56,631,353 L463Q probably damaging Het
Tigar G T 6: 127,089,290 A95E probably damaging Het
Tph1 A G 7: 46,656,997 I180T possibly damaging Het
Vmn2r105 A C 17: 20,227,895 I222M possibly damaging Het
Wapl A G 14: 34,722,336 I582V probably benign Het
Zfp217 A G 2: 170,115,149 V643A probably benign Het
Other mutations in Usp22
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01934:Usp22 APN 11 61155288 missense probably damaging 0.99
R0230:Usp22 UTSW 11 61159197 unclassified probably benign
R1635:Usp22 UTSW 11 61161318 nonsense probably null
R2198:Usp22 UTSW 11 61159337 missense probably damaging 0.97
R3150:Usp22 UTSW 11 61160581 missense probably damaging 0.98
R4296:Usp22 UTSW 11 61161464 splice site probably null
R4618:Usp22 UTSW 11 61161443 missense probably damaging 0.96
R4764:Usp22 UTSW 11 61160636 missense probably damaging 0.98
R4979:Usp22 UTSW 11 61157216 missense probably damaging 1.00
R5620:Usp22 UTSW 11 61158380 missense probably damaging 1.00
R6191:Usp22 UTSW 11 61174776 missense probably benign 0.24
R6750:Usp22 UTSW 11 61157216 missense probably damaging 1.00
R7129:Usp22 UTSW 11 61162949 missense probably damaging 0.98
R7991:Usp22 UTSW 11 61174762 missense probably benign 0.35
Posted On2014-05-07