Incidental Mutation 'R1495:Usp14'
ID 168818
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 039546-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1495 (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 10004994 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 225 (S225T)
Ref Sequence ENSEMBL: ENSMUSP00000112368 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092096] [ENSMUST00000116669]
AlphaFold Q9JMA1
Predicted Effect probably benign
Transcript: ENSMUST00000092096
AA Change: S260T

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000089728
Gene: ENSMUSG00000047879
AA Change: S260T

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 benign
Transcript: ENSMUST00000116669
AA Change: S225T

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000112368
Gene: ENSMUSG00000047879
AA Change: S225T

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: ENSMUST00000133594
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154088
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.5%
  • 20x: 93.3%
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik A G 13: 119,614,356 (GRCm39) N488S probably benign Het
Acot10 G A 15: 20,665,593 (GRCm39) R383C probably damaging Het
Acsm2 A G 7: 119,177,349 (GRCm39) D263G probably damaging Het
Adcy2 G T 13: 68,944,654 (GRCm39) Q243K probably benign Het
Aggf1 G A 13: 95,492,921 (GRCm39) R563* probably null Het
Agt A G 8: 125,286,194 (GRCm39) F296S probably damaging Het
Akap14 T C X: 36,427,618 (GRCm39) D39G possibly damaging Het
Akt3 T C 1: 176,930,608 (GRCm39) M117V probably benign Het
Ankar T C 1: 72,682,450 (GRCm39) T1154A probably benign Het
Arvcf T A 16: 18,207,251 (GRCm39) L70Q probably damaging Het
Ccdc171 A T 4: 83,599,332 (GRCm39) K724* probably null Het
Ccdc91 A G 6: 147,435,670 (GRCm39) T85A possibly damaging Het
Ccdc9b T G 2: 118,591,013 (GRCm39) K173N probably damaging Het
Cdh3 C T 8: 107,265,629 (GRCm39) T224I probably damaging Het
Clstn3 T C 6: 124,426,876 (GRCm39) I482V probably benign Het
Cnot9 A G 1: 74,562,759 (GRCm39) E176G probably damaging Het
Cntnap4 T G 8: 113,608,395 (GRCm39) L1272V possibly damaging Het
Cyb5a T A 18: 84,869,605 (GRCm39) M1K probably null Het
Cyp2c23 A G 19: 43,993,947 (GRCm39) I473T probably benign Het
Dbil5 T A 11: 76,109,276 (GRCm39) M60K probably benign Het
Defa38 T A 8: 21,585,217 (GRCm39) Q75L probably benign Het
Dgkg A T 16: 22,319,129 (GRCm39) L644Q probably damaging Het
Disp3 T C 4: 148,334,282 (GRCm39) I1004V probably benign Het
Egf T A 3: 129,506,655 (GRCm39) I599F probably damaging Het
Epc2 A G 2: 49,426,675 (GRCm39) T145A probably damaging Het
Extl1 TGCGTTGCACCGATACCGGG TG 4: 134,084,988 (GRCm39) probably benign Het
Extl3 A T 14: 65,313,316 (GRCm39) V622E probably benign Het
Fam227a C T 15: 79,510,446 (GRCm39) V403I probably benign Het
Fat2 T A 11: 55,153,499 (GRCm39) D3571V probably benign Het
Fcho2 A G 13: 98,886,358 (GRCm39) probably null Het
Fras1 A G 5: 96,676,445 (GRCm39) N64S possibly damaging Het
Gabbr1 A G 17: 37,366,832 (GRCm39) N352S possibly damaging Het
Gabra1 T C 11: 42,045,771 (GRCm39) N113S probably damaging Het
Glg1 T C 8: 111,924,307 (GRCm39) Y227C probably damaging Het
Gm5141 A T 13: 62,922,084 (GRCm39) C362S probably damaging Het
Gprc6a T A 10: 51,504,533 (GRCm39) T104S probably benign Het
Jph1 A C 1: 17,161,876 (GRCm39) V262G probably benign Het
Kank1 C G 19: 25,387,713 (GRCm39) T434R probably damaging Het
Kmt2e A G 5: 23,704,325 (GRCm39) S1173G possibly damaging Het
Krt75 G A 15: 101,482,308 (GRCm39) probably benign Het
Lyzl1 G T 18: 4,181,192 (GRCm39) W77L probably null Het
Nipbl T G 15: 8,380,764 (GRCm39) N676T probably benign Het
Obscn C T 11: 58,970,986 (GRCm39) S2300N probably damaging Het
Or9a2 T G 6: 41,748,837 (GRCm39) Y132S probably damaging Het
Osbpl1a T A 18: 12,891,896 (GRCm39) M350L probably benign Het
Pecam1 T C 11: 106,579,682 (GRCm39) D460G probably damaging Het
Pik3c2a T A 7: 115,987,300 (GRCm39) K540N probably benign Het
Prdm12 T A 2: 31,530,205 (GRCm39) I32N probably damaging Het
Prkd1 T C 12: 50,413,135 (GRCm39) S679G probably damaging Het
Psen2 C T 1: 180,056,419 (GRCm39) A393T probably damaging Het
Ptprh T A 7: 4,583,888 (GRCm39) T235S probably benign Het
Ranbp3 C T 17: 57,012,527 (GRCm39) P182L probably benign Het
Serpinb7 A T 1: 107,379,390 (GRCm39) K266* probably null Het
Sesn3 T C 9: 14,219,817 (GRCm39) S69P probably damaging Het
Slc12a6 T C 2: 112,184,535 (GRCm39) M818T probably damaging Het
Slc25a53 C A X: 135,916,084 (GRCm39) C4F unknown Het
Snx1 T A 9: 66,003,879 (GRCm39) L255F probably benign Het
Sptbn2 T G 19: 4,769,004 (GRCm39) S46A possibly damaging Het
Taf4 A G 2: 179,574,820 (GRCm39) F595S probably damaging Het
Tec A T 5: 72,944,098 (GRCm39) V103E probably damaging Het
Tmco5b T C 2: 113,121,136 (GRCm39) S147P possibly damaging Het
Uchl5 C T 1: 143,675,675 (GRCm39) T93I possibly damaging Het
Usp45 C A 4: 21,797,385 (GRCm39) Q238K possibly damaging Het
Vmn1r6 T A 6: 56,980,058 (GRCm39) M218K possibly damaging Het
Zfp84 T A 7: 29,476,728 (GRCm39) Y473* probably null Het
Zyg11b G A 4: 108,123,410 (GRCm39) P186S probably 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
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'- ACTTAGGAATGCTGTATGCTTGGGGAT -3'
(R):5'- CACCAGCGGTGACACCTTCTAAAA -3'

Sequencing Primer
(F):5'- tttgactttacaaatacatttcagcc -3'
(R):5'- AATAGTCTTTCAGGGATTTTGAGC -3'
Posted On 2014-04-13