Incidental Mutation 'R1365:Usp14'
ID 156016
Institutional Source Beutler Lab
Gene Symbol Usp14
Ensembl Gene ENSMUSG00000047879
Gene Name ubiquitin specific peptidase 14
Synonyms ax, 2610005K12Rik, nmf375, ataxia, 2610037B11Rik, dUB-type TGT, NMF375
MMRRC Submission 039430-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1365 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 9993615-10030149 bp(-) (GRCm39)
Type of Mutation splice site (5 bp from exon)
DNA Base Change (assembly) C to T at 10000490 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000112368 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092096] [ENSMUST00000116669]
AlphaFold Q9JMA1
Predicted Effect probably null
Transcript: ENSMUST00000092096
SMART Domains Protein: ENSMUSP00000089728
Gene: ENSMUSG00000047879

DomainStartEndE-ValueType
UBQ 4 74 3.61e-11 SMART
Pfam:UCH 104 479 9e-57 PFAM
Pfam:UCH_1 105 456 3.2e-17 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000116669
SMART Domains Protein: ENSMUSP00000112368
Gene: ENSMUSG00000047879

DomainStartEndE-ValueType
UBQ 4 73 2.63e-4 SMART
low complexity region 217 235 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133594
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154088
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ubiquitin-specific processing (UBP) family of proteases that is a deubiquitinating enzyme (DUB) with His and Cys domains. This protein is located in the cytoplasm and cleaves the ubiquitin moiety from ubiquitin-fused precursors and ubiquitinylated proteins. Mice with a mutation that results in reduced expression of the ortholog of this protein are retarded for growth, develop severe tremors by 2 to 3 weeks of age followed by hindlimb paralysis and death by 6 to 10 weeks of age. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a hypomorphic mutation develop severe tremors by 3 weeks of age, followed by hindlimb paralysis and premature death. An underdeveloped corpus callosum, hippocampus, dentate gyrus and forebrain structures, and notable defects in synaptic transmission in both the CNS and PNS are seen. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef28 G A 13: 98,211,632 (GRCm39) T117M probably damaging Het
Asb15 T C 6: 24,567,269 (GRCm39) I530T possibly damaging Het
Brca1 T C 11: 101,392,822 (GRCm39) N1673S probably benign Het
Cd48 A T 1: 171,527,129 (GRCm39) Q185L probably damaging Het
Cog2 A T 8: 125,267,713 (GRCm39) K343I probably damaging Het
Dars2 G A 1: 160,872,564 (GRCm39) Q546* probably null Het
Dst A G 1: 34,227,275 (GRCm39) K1623E probably benign Het
Epn1 G A 7: 5,096,369 (GRCm39) R221Q probably benign Het
Gtf2b T C 3: 142,477,227 (GRCm39) I33T probably damaging Het
Hsf4 G T 8: 105,997,726 (GRCm39) R156L probably damaging Het
Itch A G 2: 155,054,951 (GRCm39) N752D probably benign Het
Kif28 G A 1: 179,567,552 (GRCm39) Q73* probably null Het
Mamdc4 T C 2: 25,456,036 (GRCm39) Y790C probably damaging Het
Med1 T C 11: 98,046,821 (GRCm39) probably benign Het
Mfsd13a C T 19: 46,354,943 (GRCm39) T40I probably benign Het
Nf1 A G 11: 79,438,711 (GRCm39) probably null Het
Oxct2b G A 4: 123,011,162 (GRCm39) V361I probably benign Het
Pid1 T C 1: 84,015,862 (GRCm39) M168V probably damaging Het
Plk1 A G 7: 121,767,852 (GRCm39) D419G probably damaging Het
Rasl10b G A 11: 83,308,665 (GRCm39) probably null Het
Rps24 A G 14: 24,541,830 (GRCm39) T6A probably damaging Het
Sem1 T C 6: 6,560,501 (GRCm39) D26G possibly damaging Het
Sin3a C T 9: 57,032,487 (GRCm39) R1141* probably null Het
Slf1 C T 13: 77,274,490 (GRCm39) A68T probably damaging Het
Trmo A G 4: 46,380,278 (GRCm39) S364P probably damaging Het
Uchl3 A G 14: 101,891,528 (GRCm39) E10G probably damaging Het
Vmn1r203 T A 13: 22,708,756 (GRCm39) M179K probably benign Het
Vps13a A G 19: 16,596,810 (GRCm39) Y3103H probably damaging Het
Zfp804a T C 2: 82,087,590 (GRCm39) L473P probably benign Het
Zfp979 A T 4: 147,697,681 (GRCm39) Y343N probably benign Het
Other mutations in Usp14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02671:Usp14 APN 18 9,997,196 (GRCm39) missense probably damaging 0.99
IGL02756:Usp14 APN 18 10,001,769 (GRCm39) critical splice donor site probably null
PIT4354001:Usp14 UTSW 18 9,996,189 (GRCm39) missense probably damaging 1.00
R1238:Usp14 UTSW 18 9,997,763 (GRCm39) missense probably benign
R1343:Usp14 UTSW 18 10,016,623 (GRCm39) missense probably benign 0.03
R1495:Usp14 UTSW 18 10,004,994 (GRCm39) missense probably benign 0.01
R1817:Usp14 UTSW 18 10,024,673 (GRCm39) missense probably damaging 1.00
R2021:Usp14 UTSW 18 10,024,632 (GRCm39) missense probably damaging 0.99
R2190:Usp14 UTSW 18 10,007,835 (GRCm39) missense probably damaging 1.00
R3836:Usp14 UTSW 18 10,024,532 (GRCm39) critical splice donor site probably null
R3837:Usp14 UTSW 18 10,024,532 (GRCm39) critical splice donor site probably null
R3838:Usp14 UTSW 18 10,024,532 (GRCm39) critical splice donor site probably null
R3839:Usp14 UTSW 18 10,024,532 (GRCm39) critical splice donor site probably null
R3870:Usp14 UTSW 18 10,002,370 (GRCm39) missense possibly damaging 0.89
R3871:Usp14 UTSW 18 10,002,370 (GRCm39) missense possibly damaging 0.89
R5388:Usp14 UTSW 18 10,018,023 (GRCm39) missense probably damaging 1.00
R5767:Usp14 UTSW 18 10,009,935 (GRCm39) intron probably benign
R5871:Usp14 UTSW 18 9,996,234 (GRCm39) missense probably benign 0.27
R5898:Usp14 UTSW 18 10,022,819 (GRCm39) missense possibly damaging 0.62
R7899:Usp14 UTSW 18 10,000,563 (GRCm39) missense possibly damaging 0.66
R8911:Usp14 UTSW 18 9,996,194 (GRCm39) missense probably damaging 1.00
R8996:Usp14 UTSW 18 10,000,521 (GRCm39) missense probably benign 0.13
R9310:Usp14 UTSW 18 9,996,239 (GRCm39) missense possibly damaging 0.67
R9723:Usp14 UTSW 18 10,009,993 (GRCm39) missense probably damaging 0.96
R9766:Usp14 UTSW 18 10,005,630 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- GACAGCAGAGCCCTGCTTCC -3'
(R):5'- GCCATACACGTATAGTTTCTATGCCCAC -3'

Sequencing Primer
(F):5'- AGGCTGGTCACTCATAACAG -3'
(R):5'- TGAACTCTGCACACCAGAAC -3'
Posted On 2014-02-11