Incidental Mutation 'R2190:Usp14'
ID 238062
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 040192-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2190 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 9993615-10030149 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 10007835 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 168 (C168S)
Ref Sequence ENSEMBL: ENSMUSP00000112368 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092096] [ENSMUST00000116669]
AlphaFold Q9JMA1
Predicted Effect probably damaging
Transcript: ENSMUST00000092096
AA Change: C203S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000089728
Gene: ENSMUSG00000047879
AA Change: C203S

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 damaging
Transcript: ENSMUST00000116669
AA Change: C168S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112368
Gene: ENSMUSG00000047879
AA Change: C168S

DomainStartEndE-ValueType
UBQ 4 73 2.63e-4 SMART
low complexity region 217 235 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128334
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145929
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154088
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.2%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 A T 8: 111,766,785 (GRCm39) T56S probably damaging Het
Acbd6 A T 1: 155,500,652 (GRCm39) H204L probably damaging Het
Acnat2 T A 4: 49,383,551 (GRCm39) M1L probably benign Het
Adgrg5 A T 8: 95,660,579 (GRCm39) I73F probably damaging Het
Ankrd52 A G 10: 128,219,487 (GRCm39) T474A probably benign Het
Arid3a A G 10: 79,782,365 (GRCm39) D252G possibly damaging Het
Aspg G T 12: 112,091,322 (GRCm39) E501D probably damaging Het
Bicral A G 17: 47,136,049 (GRCm39) I387T probably damaging Het
Bub1 T C 2: 127,652,645 (GRCm39) N574S probably benign Het
Casr G A 16: 36,315,778 (GRCm39) T764M probably damaging Het
Ccdc60 A G 5: 116,295,639 (GRCm39) S259P probably damaging Het
Ccne2 A T 4: 11,197,241 (GRCm39) N181I probably benign Het
Chd4 A G 6: 125,091,260 (GRCm39) D89G probably benign Het
Col25a1 C T 3: 130,378,364 (GRCm39) P606S probably damaging Het
Dcc A G 18: 71,680,491 (GRCm39) S582P possibly damaging Het
Dlg4 A G 11: 69,933,430 (GRCm39) D619G probably damaging Het
Elavl2 C T 4: 91,152,331 (GRCm39) V129I probably benign Het
Epha3 A G 16: 63,366,552 (GRCm39) I965T probably benign Het
Fbxw16 G A 9: 109,265,739 (GRCm39) S360L probably damaging Het
Fgf14 T C 14: 124,221,330 (GRCm39) Y158C probably damaging Het
Gm44511 A G 6: 128,803,163 (GRCm39) I16T possibly damaging Het
Has2 C A 15: 56,531,183 (GRCm39) V511F probably benign Het
Heatr5b G A 17: 79,109,185 (GRCm39) R1025C probably damaging Het
Hsd17b12 T C 2: 93,864,408 (GRCm39) Y233C probably benign Het
Il36rn A T 2: 24,170,831 (GRCm39) I43F probably damaging Het
Inpp5b T A 4: 124,678,988 (GRCm39) I465N probably damaging Het
Irak2 T A 6: 113,663,904 (GRCm39) N423K probably damaging Het
Itga2 C A 13: 115,007,141 (GRCm39) V396L probably benign Het
Itprid1 A G 6: 55,874,685 (GRCm39) T212A possibly damaging Het
Lipo2 A T 19: 33,725,969 (GRCm39) N94K probably damaging Het
Lrrc37a T C 11: 103,390,869 (GRCm39) T1519A possibly damaging Het
Macf1 A G 4: 123,353,005 (GRCm39) V1558A probably benign Het
Mocos C A 18: 24,797,114 (GRCm39) H91Q probably benign Het
Myh14 G A 7: 44,310,487 (GRCm39) T132I probably damaging Het
Nlrp2 A T 7: 5,322,237 (GRCm39) D803E possibly damaging Het
Ntsr2 T A 12: 16,704,018 (GRCm39) I173N probably damaging Het
Or14c43 A G 7: 86,115,573 (GRCm39) Y318C possibly damaging Het
Or5b105 T G 19: 13,079,857 (GRCm39) K270N probably damaging Het
Pitx3 T C 19: 46,125,486 (GRCm39) Y86C probably damaging Het
Pkp1 T C 1: 135,807,709 (GRCm39) S520G probably benign Het
Pygo1 C T 9: 72,852,529 (GRCm39) Q239* probably null Het
Rab13 A G 3: 90,130,851 (GRCm39) E68G probably damaging Het
Rfx7 A G 9: 72,525,201 (GRCm39) E797G probably benign Het
Slc5a1 T C 5: 33,261,937 (GRCm39) probably null Het
Slco1c1 A G 6: 141,508,893 (GRCm39) T518A probably benign Het
Spint1 A G 2: 119,068,661 (GRCm39) I132V probably benign Het
Stard9 T A 2: 120,544,601 (GRCm39) I4514N probably benign Het
Tenm3 T G 8: 48,848,579 (GRCm39) S87R probably damaging Het
Thap4 G T 1: 93,678,381 (GRCm39) P135Q probably damaging Het
Tmed9 A G 13: 55,741,156 (GRCm39) E57G probably benign Het
Tnrc18 C T 5: 142,761,644 (GRCm39) V594I unknown Het
Trmt1 A T 8: 85,416,470 (GRCm39) K64* probably null Het
Usf2 A G 7: 30,654,606 (GRCm39) V198A probably damaging Het
Vav3 C A 3: 109,470,130 (GRCm39) T525K probably damaging Het
Vmn1r52 A G 6: 90,156,151 (GRCm39) I152V probably benign Het
Vmn2r81 A G 10: 79,104,085 (GRCm39) D236G possibly damaging Het
Wdr19 G A 5: 65,401,509 (GRCm39) V975I possibly damaging 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
R1365:Usp14 UTSW 18 10,000,490 (GRCm39) splice site probably null
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
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'- AGCCACCATGAGGGGAGATA -3'
(R):5'- CAGCCAGGTAAGAATGGTGT -3'

Sequencing Primer
(F):5'- CAGCAAGATTATAGGGTACACTGC -3'
(R):5'- GAGACAGGGTTTTTCTGTATAACCCC -3'
Posted On 2014-10-02