Incidental Mutation 'R3838:Usp14'
ID 277031
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 040779-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3838 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 9993615-10030149 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 10024532 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: ENSMUST00000128334
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142013
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150321
Meta Mutation Damage Score 0.9503 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.8%
  • 20x: 96.4%
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930486L24Rik A G 13: 60,993,041 (GRCm39) Y213H probably damaging Het
Alg8 C T 7: 97,037,752 (GRCm39) H379Y probably damaging Het
Arhgef25 T C 10: 127,025,605 (GRCm39) T12A probably benign Het
Arid4a A G 12: 71,122,559 (GRCm39) E980G possibly damaging Het
Aspm C T 1: 139,405,792 (GRCm39) H1560Y probably benign Het
Atg10 A T 13: 91,085,499 (GRCm39) I150K probably damaging Het
Bud13 A C 9: 46,201,490 (GRCm39) Q387P possibly damaging Het
Champ1 A G 8: 13,929,939 (GRCm39) Y699C probably damaging Het
Clstn1 A G 4: 149,722,790 (GRCm39) E476G probably damaging Het
Col2a1 T C 15: 97,886,857 (GRCm39) D345G unknown Het
Col2a1 A T 15: 97,898,462 (GRCm39) probably benign Het
Col9a2 C G 4: 120,911,455 (GRCm39) R599G probably damaging Het
Dnajb2 G A 1: 75,218,124 (GRCm39) probably null Het
Dock4 G T 12: 40,844,623 (GRCm39) probably null Het
Epx A T 11: 87,765,656 (GRCm39) L101Q probably damaging Het
F13a1 A T 13: 37,231,398 (GRCm39) N21K probably damaging Het
Fam13c C T 10: 70,378,478 (GRCm39) S336L probably damaging Het
Foxj3 T A 4: 119,473,821 (GRCm39) H215Q possibly damaging Het
Gcnt4 A T 13: 97,083,522 (GRCm39) R273* probably null Het
Gpam T C 19: 55,068,890 (GRCm39) N450S probably benign Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Hmcn2 T C 2: 31,303,419 (GRCm39) L3020P probably damaging Het
Hmgcr A G 13: 96,795,597 (GRCm39) I324T probably benign Het
Ighmbp2 T C 19: 3,321,658 (GRCm39) Y367C probably benign Het
Lrrc14b A G 13: 74,511,664 (GRCm39) C139R possibly damaging Het
Lsamp A T 16: 41,954,675 (GRCm39) E174V possibly damaging Het
Mid1ip1 T C X: 10,584,620 (GRCm39) V51A possibly damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Msn C A X: 95,203,805 (GRCm39) Q303K probably damaging Het
Myh7b A G 2: 155,474,909 (GRCm39) K1816E probably damaging Het
Nap1l1 T A 10: 111,331,183 (GRCm39) probably null Het
Nme2 T A 11: 93,840,803 (GRCm39) E252D probably benign Het
Ntpcr G A 8: 126,464,111 (GRCm39) V79M probably damaging Het
Ogdh C T 11: 6,288,627 (GRCm39) R235* probably null Het
Or10d1 A G 9: 39,484,267 (GRCm39) V96A probably benign Het
Or10w1 A G 19: 13,632,321 (GRCm39) D176G probably benign Het
Or9k2 C A 10: 129,998,275 (GRCm39) E307* probably null Het
P3r3urf A G 4: 116,030,718 (GRCm39) T41A probably benign Het
Pcdh20 T C 14: 88,705,899 (GRCm39) N467S probably benign Het
Pkhd1 G A 1: 20,604,853 (GRCm39) T1154I possibly damaging Het
Polq G T 16: 36,898,711 (GRCm39) R2157I probably damaging Het
Reep6 C A 10: 80,171,723 (GRCm39) A533E probably damaging Het
Senp2 T C 16: 21,828,485 (GRCm39) S32P probably damaging Het
Septin11 T A 5: 93,296,258 (GRCm39) I52N probably damaging Het
Shld2 T C 14: 33,967,325 (GRCm39) D77G probably benign Het
Slc17a4 C T 13: 24,085,752 (GRCm39) R387H probably benign Het
Spdye4b C T 5: 143,178,084 (GRCm39) T11I probably benign Het
Srrt C T 5: 137,300,387 (GRCm39) probably null Het
Sspo T A 6: 48,457,754 (GRCm39) C3085S probably damaging Het
Stim1 C T 7: 102,060,503 (GRCm39) T182I possibly damaging Het
Thbs2 C A 17: 14,908,113 (GRCm39) V217L probably benign Het
Thpo G A 16: 20,547,498 (GRCm39) R38C probably damaging Het
Tmem210 A G 2: 25,178,444 (GRCm39) E35G possibly damaging Het
Trim12c T A 7: 103,990,075 (GRCm39) probably benign Het
Tvp23b A G 11: 62,774,455 (GRCm39) H33R possibly damaging Het
Vmn2r73 A G 7: 85,507,258 (GRCm39) W685R probably benign Het
Zfp618 G A 4: 63,051,801 (GRCm39) A861T probably benign Het
Zfp715 A G 7: 42,949,180 (GRCm39) V260A 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
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
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
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'- AGACATGATGCTCCTCACATAC -3'
(R):5'- GGCTCTGAAACATGACGTTGG -3'

Sequencing Primer
(F):5'- AACATCACTAGAACAGTTTAAATGGG -3'
(R):5'- CTGCTGGCTTTGAACTCACAAAAG -3'
Posted On 2015-04-06