Incidental Mutation 'R2021:Usp14'
ID 224050
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 040030-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2021 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 9993615-10030149 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 10024632 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 22 (T22A)
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: T22A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000089728
Gene: ENSMUSG00000047879
AA Change: T22A

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: T22A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000112368
Gene: ENSMUSG00000047879
AA Change: T22A

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: ENSMUST00000142013
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150321
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.2%
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim1 A T 19: 57,035,450 (GRCm39) S316T probably damaging Het
Alox8 C T 11: 69,077,114 (GRCm39) V460I probably damaging Het
Aoc1l2 T C 6: 48,908,385 (GRCm39) S462P probably damaging Het
Arvcf G A 16: 18,218,482 (GRCm39) A491T probably damaging Het
Asnsd1 A G 1: 53,386,386 (GRCm39) S414P possibly damaging Het
Btbd7 A G 12: 102,756,968 (GRCm39) L706P probably damaging Het
Camk2d T A 3: 126,574,105 (GRCm39) W171R probably damaging Het
Casc3 T A 11: 98,712,332 (GRCm39) S124T probably benign Het
Casp8ap2 T C 4: 32,644,560 (GRCm39) V1211A probably benign Het
Ccdc182 T C 11: 88,184,962 (GRCm39) V14A possibly damaging Het
Ccdc80 A T 16: 44,943,275 (GRCm39) Q795L probably damaging Het
Ccdc88a T G 11: 29,453,480 (GRCm39) S1614R probably damaging Het
Cemip2 G A 19: 21,822,114 (GRCm39) A1170T possibly damaging Het
Clcn6 A G 4: 148,095,109 (GRCm39) probably null Het
Cubn A G 2: 13,313,360 (GRCm39) V3070A probably benign Het
Dst G A 1: 34,205,372 (GRCm39) V1025I possibly damaging Het
Dynlt4 A G 4: 116,985,504 (GRCm39) E109G possibly damaging Het
Elk3 T A 10: 93,101,539 (GRCm39) I71F probably damaging Het
Flt3 A T 5: 147,306,300 (GRCm39) I276N probably damaging Het
Frem1 G T 4: 82,831,795 (GRCm39) T1988K probably benign Het
Golph3l T A 3: 95,524,668 (GRCm39) D306E probably benign Het
Grk2 T A 19: 4,340,698 (GRCm39) I254F probably damaging Het
Hgf C T 5: 16,781,919 (GRCm39) T214I probably benign Het
Hoxc5 C A 15: 102,922,814 (GRCm39) probably null Het
Hsd11b1 T C 1: 192,922,686 (GRCm39) T124A probably benign Het
Ipp A G 4: 116,372,565 (GRCm39) Y198C probably benign Het
Ism1 T A 2: 139,582,047 (GRCm39) probably null Het
Klhl42 A G 6: 146,993,394 (GRCm39) Y122C possibly damaging Het
Klk1b21 A T 7: 43,755,418 (GRCm39) K206* probably null Het
Lcn11 A G 2: 25,668,097 (GRCm39) K85R probably benign Het
Macf1 G T 4: 123,366,523 (GRCm39) A2746E probably damaging Het
Matn4 A G 2: 164,242,573 (GRCm39) V175A probably damaging Het
Myh2 A T 11: 67,082,545 (GRCm39) N1372Y probably damaging Het
Ncl A G 1: 86,284,677 (GRCm39) probably null Het
Nudt2 A G 4: 41,480,255 (GRCm39) D46G probably damaging Het
Obscn C T 11: 58,958,000 (GRCm39) D3567N probably benign Het
Or1j17 G C 2: 36,578,487 (GRCm39) V158L probably benign Het
Or2z9 G T 8: 72,853,930 (GRCm39) V109F possibly damaging Het
Or4a72 A T 2: 89,405,305 (GRCm39) M255K possibly damaging Het
Pamr1 T A 2: 102,464,880 (GRCm39) M343K probably benign Het
Pcdh15 T G 10: 74,467,025 (GRCm39) S1684A possibly damaging Het
Ppm1h T A 10: 122,714,433 (GRCm39) L324* probably null Het
Ppp3r2 T C 4: 49,681,723 (GRCm39) I76V probably benign Het
Prkdc G A 16: 15,494,873 (GRCm39) V748I probably benign Het
Prss47 A G 13: 65,199,591 (GRCm39) V96A probably benign Het
Rsbn1 C T 3: 103,821,789 (GRCm39) T8I probably benign Het
Rsf1 GGCG GGCGACGGCGGCG 7: 97,229,113 (GRCm39) probably benign Het
Serpinb3d A G 1: 107,006,182 (GRCm39) V302A probably benign Het
Sfrp4 A T 13: 19,816,496 (GRCm39) I177F probably benign Het
Sh3bp2 A G 5: 34,701,569 (GRCm39) probably benign Het
Slc7a12 A G 3: 14,562,393 (GRCm39) T257A probably damaging Het
Spata31e5 A T 1: 28,817,234 (GRCm39) V266D probably damaging Het
Specc1l T C 10: 75,103,425 (GRCm39) probably null Het
Stard9 A G 2: 120,534,716 (GRCm39) T3658A probably benign Het
Styxl2 A T 1: 165,928,392 (GRCm39) W407R probably benign Het
Tmem30c T C 16: 57,101,725 (GRCm39) T68A probably damaging Het
Tnr A G 1: 159,679,592 (GRCm39) I189V probably benign Het
Trrap A G 5: 144,790,298 (GRCm39) N3586S possibly damaging Het
Vmn1r68 A G 7: 10,261,918 (GRCm39) L60P probably damaging Het
Vmn2r108 G A 17: 20,691,252 (GRCm39) H424Y probably benign Het
Wdr81 C A 11: 75,336,788 (GRCm39) E1534* probably null Het
Zc3h13 A G 14: 75,567,635 (GRCm39) E976G probably damaging Het
Zfp128 T C 7: 12,623,956 (GRCm39) L108P possibly damaging Het
Zfp644 T C 5: 106,783,548 (GRCm39) I1000V 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
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

Sequencing Primer
Posted On 2014-08-25